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	NSWES967	WT	HH	HZ	NC
chr1	1212672	1212672	G	C	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon4:c.C403G:p.P135A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0281720310952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.08310	T	0.207	0.26969	T	0.053	0.22573	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.235	0.30780	L	1.0	0.41392	T	-1.41	0.34795	N	0.155	0.16028	-1.0132	0.25912	T	0.044	0.18742	T	9	0.050721765	0.04847	T	0.028172	0.50884	D	0.019	0.03383	0.252	0.19067	0.299770980665	0.29595	0.43165785380135496	0.43082	0.147009752136	0.16587	0.376572281122	0.21769	T	0.25469	0.62538	T	-0.238393	0.15554	T	-0.580211	0.14526	T	0.13436418936032	0.15779	T	0.591441	0.21800	T	0.10247607	0.24214	0.06472879	0.13016	0.10247607	0.24214	0.06472879	0.13015	-3.308	0.13841	T	0.41340978526035865	0.50335	0.071	0.03811	B	.	.	0.831720	0.12032	8.588	0.70608782249302515	0.09351	0.03361	0.08454	N	AEFDBI	0.105131	0.21015	N	-0.895685609138517	0.10945	0.5255889	-0.995093367029709	0.09895	0.4949975	0.998569004455424	0.37206	0.646311	0.45356	0	0.516746	0.08562	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	3.69	0.746	0.17514	0.080000	0.14657	3.146000	0.36504	-0.232000	0.07691	0.000000	0.06391	0.982000	0.30508	0.056000	0.15673	0.2846:0.0:0.5504:0.1651	4.495	0.11245	789	0.46346	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tyrosine-protein kinase ephrin type A/B receptor-like|Tumour necrosis factor receptor 4, 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	633.33	34	chr1	1212672	.	G	C	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.494;DP=687;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.311;SOR=0.52	GT:AD:DP:GQ:PL	0/1:33,29:62:99:647,0,789	18	0	1	0
chr1	3763781	3763781	C	T	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon8:c.C1397T:p.T466M	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0058	0.00339457	0.0068	0.0012	0.0056	0	0.0109	0.0099	0.0044	0.0007	0.0064165	992	154602	rs144028564	0.0067	0.0067	0.0067	0.0067	0.0074	0.0066	0.0065	0.0070	0.0069	0.0011	0.0074	0.0184	0.0001	0.0094	0.0019	0.0071	0.0065	0.0012	0.0069	0.0069	0.0068	0.0070	0.0110	0.0066	0.0064	0.0097	0.0092	0.0012	0.0022	0.0110	0.0204	0.0004	0.0086	0	0.0095	0.0090	0.0012	0.381	0.11156	T	0.136	0.34009	T	0.0	0.02946	B	0.001	0.04355	B	0.077984	0.02322	N	1.973700	1	0.08975	N	0.11	0.08516	N	2.25	0.17761	T	-0.48	0.15379	N	0.161	0.16864	-0.9941	0.31538	T	0.014	0.05608	T	10	0.0037753582	0.00070	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.09067344847882812	0.09000	0.13105625566	0.14780	0.287918627262	0.08620	T	0.001754	0.01176	T	-0.765393	0.00014	T	-0.859887	0.00844	T	0.00164817917624442	0.00017	T	0.263374	0.04265	T	0.01385771	0.00072	0.031199833	0.01675	0.01385771	0.00072	0.031199833	0.01675	-3.209	0.12591	T	.	.	0.066	0.02313	B	.	.	-1.476959	0.00309	0.005	0.93255571769026302	0.22947	0.00243	0.01347	N	AEFDBI	0.023133	0.01247	N	-1.2574682187906	0.04202	0.1891989	-1.26791833404371	0.04871	0.2308145	0.254859351864128	0.18722	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.76	-3.17	0.04882	-3.765000	0.00418	-6.632000	0.01346	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1621:0.4807:0.0:0.3573	5.202	0.14591	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.02632	1105.33	40	chr1	3763781	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.03;SOR=0.722	GT:AD:DP:GQ:PL	0/1:57,45:102:99:1119,0,1370	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	0/1:20,4:24:32:.:.:32,0,365:.	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	0/1:159,36:204:70:.:.:70,0,4925:.	7	0	12	0
chr1	12276474	12276474	C	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.C2886G:p.N962K,VPS13D:NM_018156:exon19:c.C2886G:p.N962K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.00377998706888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	0.988	0.65571	D	0.76	0.62418	P	0.000003	0.62929	D	0.099394	0.988204	0.40722	D	2.08	0.57402	M	.	.	.	.	.	.	0.58	0.61511	-0.8821	0.49593	T	0.192	0.54404	T	10	0.46249995	0.59370	T	0.00378	0.08806	T	.	.	0.539	0.65018	0.082315109003	0.07666	0.5253306198152572	0.52457	.	.	0.821717500687	0.85291	D	0.556763	0.85090	D	-0.0622428	0.42556	T	-0.327184	0.41782	T	0.873305976390839	0.52317	D	0.922308	0.72522	D	0.45681882	0.64473	0.36865684	0.62151	0.45681882	0.64473	0.36865684	0.62151	-9.42	0.70360	D	0.7654145461074551	0.84686	0.527	0.65793	A	.;.	.;.	3.606357	0.50966	23.0	0.99774521274026717	0.86174	0.95185	0.63751	D	ALL	0.453198	0.50643	N	0.352578702669321	0.58876	4.062619	0.36974556561838	0.59705	4.15074	0.999995928227925	0.74766	0.658043	0.49183	0	0.653731	0.59785	0	0.659943	0.59835	0	0.674467	0.66132	0	.	.	6.06	3.89	0.44098	1.956000	0.40007	1.785000	0.28750	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8581:0.0:0.1419	13.985	0.63840	730	0.54327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2123.33	33	chr1	12276474	.	C	G	2123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.474;DP=786;ExcessHet=0;FS=5.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.479;SOR=0.395	GT:AD:DP:GQ:PL	0/1:74,84:158:99:2137,0,2007	18	0	1	0
chr1	12895160	12895160	A	G	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon3:c.T292C:p.W98R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000900751693478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.067	0.35918	T	0.393	0.15355	T	0.035	0.20614	B	0.048	0.24975	B	0.489833	0.12070	N	0.782869	1	0.08975	N	2.205	0.62170	M	2.33	0.16492	T	-7.59	0.95305	D	0.216	0.24135	-0.9740	0.36344	T	0.025	0.10688	T	10	0.122258335	0.23189	T	9.01E-4	0.00844	T	0.058	0.16647	0.609	0.74182	0.043077524339	0.03247	0.1856254885102338	0.18480	.	.	0.634588718414	0.57795	T	0.098737	0.40285	T	-0.243493	0.14907	T	-0.587537	0.13880	T	0.578959286212921	0.35578	D	.	.	.	0.06548455	0.13998	0.05725825	0.10377	0.06548455	0.13998	0.05725825	0.10376	-3.673	0.18920	T	.	.	0.559	0.67191	A	.	.	1.819935	0.23127	15.90	0.39768714017180984	0.02765	0.00515	0.02406	N	AEFI	0.026516	0.02004	N	-1.12268718496827	0.06241	0.2867652	-1.23118383088517	0.05416	0.2579909	1.15730272507718E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.99	-0.598	0.11065	0.078000	0.14615	-0.942000	0.06844	0.355000	0.20016	0.062000	0.21832	0.000000	0.08366	0.162000	0.20715	0.5213:0.0:0.188:0.2906	1.667	0.02636	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	940.33	39	chr1	12895160	.	A	G	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.68;MQRankSum=2.38;QD=11.9;ReadPosRankSum=-1.856;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,27:79:99:0|1:12895156_T_A:954,0,2086:12895156	18	0	1	0
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	50.59	10	chr1	13308568	.	T	C	50.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.792;DP=382;ExcessHet=0.1259;FS=21.813;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=32.49;MQRankSum=0.277;QD=2.98;ReadPosRankSum=-1.465;SOR=3.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,3:17:47:.:.:47,0,562:.	16	0	2	1
chr1	16044514	16044514	C	T	exonic	CLCNKB	.	nonsynonymous SNV	CLCNKB:NM_000085:exon2:c.C22T:p.R8C	Bartter syndrome, type 3, Autosomal recessive;Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.601	0.399928303379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985164800	1.445e-05	1.847e-05	1.641e-05	1.247e-05	0.0003	9.29e-06	7.88e-06	6.101e-05	2.525e-05	5.981e-05	0	0	0	0	0.0003	1.263e-05	4.991e-05	0	4.601e-05	4.596e-05	1.285e-05	8.074e-05	6.545e-05	2.11e-05	1.527e-05	1.972e-05	1.125e-05	4.828e-05	0	6.545e-05	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.667	0.53020	P	0.562376	0.11323	N	0.786789	0.698081	0.33393	D	2.9	0.83903	M	-1.93	0.84842	D	-4.11	0.74980	D	0.5	0.58202	0.193	0.85785	D	0.609	0.86140	D	10	0.70203215	0.72504	D	0.399928	0.93375	D	0.601	0.84237	.	.	0.900686038383	0.89969	0.645170761240476	0.64452	0.0391847313903	0.04173	.	.	.	0.335784	0.70537	T	-0.0486763	0.44648	T	-0.00171996	0.70225	D	0.734918534755707	0.42466	D	0.950205	0.80929	D	0.35862112	0.57731	0.2360207	0.48862	0.35862112	0.57731	0.2360207	0.48861	-6.259	0.48397	T	.	.	0.254	0.48847	B	.;.	.;.	4.531022	0.71134	25.6	0.99880408867616954	0.95653	0.75964	0.37223	D	AEFDBI	0.242516	0.36396	N	0.339240421968072	0.58174	3.988193	0.263518685103978	0.53424	3.511277	0.0312808171359642	0.13992	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.23	3.22	0.36041	1.987000	0.40309	2.378000	0.32469	0.573000	0.29008	0.984000	0.35821	0.152000	0.23188	0.661000	0.32996	0.2263:0.7737:0.0:0.0	8.726	0.33630	433	0.80627	.;.	.	.	.	.	.	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	935.33	55	chr1	16044514	.	C	T	935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=974;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-2.026;SOR=0.83	GT:AD:DP:GQ:PL	0/1:62,40:102:99:949,0,1501	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	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	0/1:393,160:553:99:.:.:3559,0,11257:.	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	0/1:539,214:753:99:.:.:4223,0,14650:.	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	0/1:631,109:740:99:1117,0,22531	5	0	14	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	0/1:342,192:534:99:.:.:4454,0,10902:.	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	0/1:381,137:518:99:2695,0,12732	0	0	19	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:754,125:879:99:1252,0,20113	12	0	7	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:369,70:439:99:557,0,9430	13	0	6	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:294,44:338:99:364,0,7817	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	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|1:39,10:49:99:0|1:16579293_A_G:303,0,1608:16579293	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|1:39,10:49:99:0|1:16579293_A_G:303,0,1608:16579293	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|1:41,8:49:99:0|1:16579305_G_A:213,0,1694:16579305	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|1:43,8:51:99:0|1:16579305_G_A:207,0,1737:16579305	8	0	11	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	0/1:283,60:343:99:848,0,8011	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	0/1:90,21:111:99:343,0,2863	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	0/1:163,47:210:99:838,0,4535	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	0/1:425,115:540:99:1806,0,13330	14	0	5	0
chr1	16946876	16946876	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon17:c.C2399T:p.A800V	.	363	1149	10	0	0	10	0.00433276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0122393817701	0.0019	0.00239617	0.0058	0.0004	0	0	0	0.0070	0.0091	0.0073	0.0014812	229	154602	rs41267493	0.0028	0.0029	0.0026	0.0030	0.0066	0.0028	0.0027	0.0061	0.0059	0.0003	0.0009	0.0179	2.729e-05	0.0001	0.0033	0.0025	0.0032	0.0066	0.0019	0.0020	0.0018	0.0019	0.0081	0.0017	0.0016	0.0061	0.0054	0.0004	0	0.0008	0.0176	0	0.0005	0.0102	0.0021	0.0014	0.0081	0.008	0.58626	D	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	0.944602	0.26686	N	.	.	.	2.84	0.10674	T	-1.16	0.29727	N	0.186	0.20262	-0.9926	0.31933	T	0.014	0.05369	T	9	0.0054492056	0.00120	T	0.012239	0.30635	T	0.018	0.03083	.	.	0.221734844693	0.21761	0.07561405111527064	0.07497	0.35885140757	0.37586	0.392924010754	0.24081	T	.	.	.	-0.645384	0.00077	T	-0.696519	0.06018	T	0.024701215326786	0.01234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14293	B	.	.	3.189692	0.43335	21.7	0.99810435716389179	0.89442	0.71580	0.35075	D	AEFDBI	0.136332	0.25697	N	-0.347368641476783	0.27368	1.501046	-0.235573406897796	0.30272	1.702995	0.00560507813019016	0.10990	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.5	2.37	0.28337	1.770000	0.38162	5.767000	0.49719	0.524000	0.24156	0.844000	0.30348	1.000000	0.68203	0.257000	0.23443	0.7608:0.2391:0.0:0.0	8.339	0.31396	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002041	0.000000	0.001370	0.000000	0.000000	0.000000	0.006211	0.003906	0.02632	565.33	40	chr1	16946876	.	C	T	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=811;ExcessHet=0;FS=2.044;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.579;SOR=1.035	GT:AD:DP:GQ:PL	0/1:50,25:75:99:579,0,1612	18	0	1	0
chr1	17027759	17027759	C	T	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon5:c.G530A:p.R177H	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	238179	Gastrointestinal_stromal_tumor|Hereditary_pheochromocytoma-paraganglioma|not_provided|Paragangliomas_4|Pheochromocytoma|not_specified|Hereditary_cancer-predisposing_syndrome	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.799	0.397935509526	7.7e-05	0.000199681	1.647e-05	9.612e-05	8.639e-05	0	0	0	0	0	1.94e-05	3	154602	rs150437793	1.536e-05	2.19e-05	9.751e-06	2.1e-05	9.131e-05	1.006e-05	8.59e-06	2.419e-05	1.27e-05	9.131e-05	6.713e-05	0	5.054e-05	0	0	9.215e-06	3.37e-05	2.335e-05	3.939e-05	3.937e-05	6.424e-05	1.343e-05	0.0003	1.714e-05	1.129e-05	0.0001	8.282e-05	2.405e-05	0	0.0003	0	0	0	0	0	0	0	0.0	0.91255	D	0.007	0.74150	D	0.611	0.39680	P	0.38	0.43842	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.965	0.96539	H	-4.23	0.97006	D	-4.17	0.75456	D	0.789	0.78546	1.088	0.99146	D	0.937	0.97927	D	10	0.805691	0.79911	D	0.397936	0.93334	D	0.799	0.93425	.	.	0.982479477968	0.98229	0.8827251957297785	0.88240	0.59830580156	0.55004	0.674279928207	0.63448	T	0.702013	0.91428	D	0.306207	0.83458	D	0.377915	0.91356	D	0.998786866664886	0.95158	D	0.928407	0.74412	D	0.9060633	0.91931	0.80791265	0.88768	0.8766362	0.89394	0.80138737	0.88357	-14.194	0.93670	D	0.8796678996048423	0.93781	0.909	0.83352	P	.;.;.	.;.;.	5.098652	0.85179	28.5	0.99919420525810621	0.98654	0.97176	0.73137	D	AEFDBCIJ	0.925430	0.90497	D	0.60761661712547	0.73654	6.001827	0.600439740030707	0.74974	6.228939	0.999999999999115	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.373000	0.78878	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.527	0.90928	840	0.37365	4Fe-4S ferredoxin-type, iron-sulphur binding domain;4Fe-4S ferredoxin-type, iron-sulphur 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	.	.	.	.	.	.	.	.	0.02632	1195.33	37	chr1	17027759	.	C	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.659;DP=735;ExcessHet=0;FS=1.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.564;SOR=0.914	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1209,0,1458	18	0	1	0
chr1	17438267	17438267	A	G	exonic	RCC2	.	nonsynonymous SNV	RCC2:NM_001136204:exon1:c.T248C:p.V83A,RCC2:NM_018715:exon2:c.T248C:p.V83A	.	359	1149	14	0	0	14	0.00605536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0013	0.00219649	0.0045	0.0006	0.0016	0.0002	0.0047	0.0041	0	0.0126	0.0022057	341	154602	rs200660338	0.0028	0.0027	0.0027	0.0030	0.0087	0.0027	0.0027	0.0080	0.0078	0.0005	0.0007	0	5.18e-05	0.0033	0.0051	0.0027	0.0019	0.0087	0.0023	0.0023	0.0021	0.0026	0.0107	0.0021	0.0020	0.0083	0.0075	0.0005	0	0.0007	0	0	0.0033	0	0.0034	0.0024	0.0107	0.369	0.11586	T	0.806	0.03993	T	0.0	0.02946	B	0.0	0.01387	B	0.774214	0.09523	N	0.852017	0.99918	0.21543	N	1.085	0.27262	L	1.33	0.35031	T	0.39	0.03521	N	0.1	0.09207	-0.9890	0.32853	T	0.048	0.20395	T	10	0.0034547746	0.00061	T	.	.	.	0.014	0.01968	.	.	0.043077524339	0.03247	0.19436126816134353	0.19354	1.63069660363	0.89218	0.824599742889	0.85735	D	0.032243	0.22400	T	-0.593608	0.00159	T	-0.619762	0.11204	T	0.00438792510085257	0.00047	T	.	.	.	0.03901998	0.05308	0.058205187	0.10716	0.03901998	0.05307	0.058205187	0.10716	-4.199	0.26737	T	.	.	0.183	0.39630	B	.;.	.;.	1.998206	0.25390	16.74	0.90359611567091214	0.19623	0.01159	0.04181	N	AEFDBHCIJ	0.040281	0.05971	N	-1.05091254641253	0.07569	0.3520919	-1.017522591387	0.09400	0.4674583	0.999999990127784	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.93	1.77	0.23848	-0.224000	0.09169	3.445000	0.38408	0.441000	0.21086	0.000000	0.06391	0.990000	0.31317	0.530000	0.29707	0.8561:0.0:0.1439:0.0	5.965	0.18553	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	386.33	34	chr1	17438267	.	A	G	386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.646;DP=669;ExcessHet=0;FS=1.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.792;SOR=0.936	GT:AD:DP:GQ:PL	0/1:27,19:46:99:400,0,622	18	0	1	0
chr1	21896286	21896286	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon2:c.G88A:p.D30N,HSPG2:NM_005529:exon2:c.G88A:p.D30N	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0269743568634	.	.	8.245e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs762213934	3.353e-05	3.352e-05	3.676e-05	3.026e-05	4.227e-05	2.566e-05	2.312e-05	3.257e-05	2.919e-05	0	0	0	2.519e-05	0	0	4.227e-05	0	1.159e-05	6.58e-06	6.57e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.013	0.53900	D	0.027	0.55341	D	0.555	0.38231	P	0.08	0.28873	B	0.102910	0.19771	N	0.359554	0.994361	0.23533	N	2.3	0.65703	M	-1.28	0.79376	T	-1.54	0.37375	N	0.332	0.37301	-0.7246	0.59234	T	0.268	0.63939	T	10	0.19850957	0.35823	T	0.026974	0.49839	D	0.096	0.27654	0.407	0.44066	0.656232129661	0.65336	0.3951396869012096	0.39428	0.441847054258	0.44170	0.656765520573	0.60947	T	0.276344	0.64892	T	-0.128585	0.31724	T	-0.314823	0.43139	T	0.438918203115463	0.30389	T	0.832417	0.50060	T	0.124524415	0.29216	0.09210018	0.21689	0.124524415	0.29215	0.09210018	0.21688	-4.679	0.33149	T	.	.	0.099	0.16626	B	.	.	3.028183	0.40554	21.2	0.99766532116538942	0.85500	0.55949	0.29993	D	AEFDGBCI	0.164759	0.29118	N	-0.301546662846044	0.29090	1.610124	-0.282602397302303	0.28670	1.600389	0.999999521929508	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.85	3.9	0.44240	1.153000	0.31287	5.882000	0.50656	0.589000	0.31548	0.027000	0.20232	1.000000	0.68203	0.120000	0.19168	0.0:0.8127:0.1873:0.0	11.137	0.47604	775	0.48401	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1195.33	36	chr1	21896286	.	C	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.768;DP=737;ExcessHet=0;FS=3.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.264;SOR=1.054	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1209,0,1500	18	0	1	0
chr1	22955369	22955369	G	A	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon7:c.C710T:p.A237V	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.050761660546	.	.	0.0003	0	0	0	0	0	0	0.0007	3.88e-05	6	154602	rs562795697	8.01e-05	7.798e-05	5.645e-05	0.0001	0.0007	6.786e-05	6.346e-05	0.0004	0.0004	3.165e-05	2.801e-05	0	0	0	0.0007	5.468e-05	5.173e-05	0.0006	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0004	8.14e-06	5.14e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.985	0.53793	M	0.99	0.41750	T	.	.	.	0.804	0.79986	.	.	.	.	.	.	.	0.32952905	0.50204	T	0.050762	0.64379	D	.	.	.	.	0.316788114976	0.31282	0.6964412038935782	0.69585	.	.	.	.	.	0.002851	0.02248	T	-0.184646	0.23047	T	-0.142213	0.59925	T	0.713110506534576	0.41353	D	0.920908	0.71352	D	0.18711556	0.40151	0.56453305	0.74797	0.18711556	0.40150	0.56453305	0.74798	-7.244	0.55796	T	.	.	0.312	0.53936	B	.;.	.;.	3.981646	0.58534	24.0	0.98683857765128635	0.44652	0.98301	0.81414	D	AEFDGBI	0.863545	0.78211	D	0.43383823508697	0.63292	4.560226	0.518297928741623	0.69223	5.329648	0.999998667886694	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	7.638000	0.82478	9.595000	0.81054	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	14.667	0.68522	787	0.46738	Beta-lactamase-related;Beta-lactamase-related	.	.	.	.	.	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	1078.33	33	chr1	22955369	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.726;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.777;SOR=0.737	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1092,0,1125	18	0	1	0
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.02632	4622.33	33	chr1	25392026	.	C	G	4622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=949;ExcessHet=0;FS=7.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.44;MQRankSum=-4.224;QD=15.21;ReadPosRankSum=-0.931;SOR=0.423	GT:AD:DP:GQ:PL	0/1:124,180:304:99:4636,0,2996	18	0	1	0
chr1	26185065	26185065	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon14:c.G1208A:p.R403Q,CNKSR1:NM_001297648:exon14:c.G413A:p.R138Q,CNKSR1:NM_006314:exon14:c.G1187A:p.R396Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00431676747355	.	.	5.023e-05	0	0	0	0	9.119e-05	0	0	2.59e-05	4	154602	rs775999289	3.51e-05	3.557e-05	3.834e-05	3.182e-05	5.847e-05	2.713e-05	2.453e-05	2.373e-05	2.106e-05	0	0	0	2.526e-05	0	0	3.242e-05	0.0001	5.847e-05	3.286e-05	3.283e-05	3.855e-05	2.691e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0	0.303	0.15149	T	0.349	0.17585	T	0.07	0.23866	B	0.003	0.08700	B	0.466569	0.04901	N	1.277140	1	0.08975	N	0.1	0.08449	N	2.67	0.12473	T	-0.8	0.24244	N	0.213	0.24385	-1.0228	0.22802	T	0.024	0.10103	T	10	0.044643342	0.03444	T	0.004317	0.10498	T	0.120	0.33359	0.309	0.28128	0.112648838833	0.10856	0.12752296023919515	0.12678	0.245692011296	0.27094	0.229523807764	0.01933	T	0.004696	0.04103	T	-0.413977	0.01871	T	-0.832426	0.01220	T	0.0411290603381231	0.03896	T	0.790621	0.43132	T	0.03546157	0.04178	0.029241994	0.01241	0.03546157	0.04177	0.029241994	0.01241	-4.614	0.32347	T	.	.	0.075	0.06756	B	.;.;.	.;.;.	0.779480	0.11495	8.097	0.97006577690500473	0.31965	0.08272	0.14223	N	AEFDBHCI	0.080974	0.16379	N	-1.01782019317899	0.08234	0.3853517	-1.10399734532525	0.07624	0.3715553	0.999966912180475	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.55	-7.95	0.01015	-0.403000	0.07275	-3.919000	0.02452	0.671000	0.69459	0.209000	0.24412	0.000000	0.08366	0.841000	0.39698	0.3722:0.2586:0.2532:0.116	1.805	0.02892	414	0.81871	Pleckstrin homology domain;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	948.33	33	chr1	26185065	.	G	A	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.51;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=2.15;SOR=0.68	GT:AD:DP:GQ:PL	0/1:36,33:69:99:962,0,838	18	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	32577.0	38	chr1	26282323	.	A	*	32577.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.299;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=5;MLEAF=0.132;MQ=59.94;MQRankSum=0;QD=30.05;ReadPosRankSum=0.454;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,4:35:41:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1597,1275,1243:26282320	14	0	5	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	1|0:0,19:43:99:0|1:26282357_CTGGGGCCGGG_*:1944,977,895:26282357	9	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,22:47:99:0|1:26282357_CTGGGGCCGGG_*:861,0,805:26282357	8	0	8	3
chr1	26300943	26300943	G	C	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon4:c.C182G:p.A61G,UBXN11:NM_183008:exon5:c.C182G:p.A61G	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0220678641844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.39575	T	0.066	0.92824	T	0.827	0.63424	P	0.258	0.56425	B	0.222896	0.16097	N	0.591910	1	0.19781	N	2.175	0.60977	M	0.29	0.58897	T	-1.22	0.39119	N	0.221	0.24758	-0.9065	0.47274	T	0.224	0.58843	T	10	0.19327256	0.35089	T	0.022068	0.44919	T	0.184	0.45763	0.222	0.14518	0.695489126173	0.69286	0.25404249405222135	0.25318	0.631637362583	0.57115	0.32625579834	0.14368	T	0.046288	0.27380	T	-0.028709	0.47604	T	-0.279015	0.46905	T	0.587667524814606	0.35915	D	0.756224	0.37950	T	0.043288875	0.06718	0.06504885	0.13126	0.043288875	0.06718	0.06504885	0.13126	-3.192	0.12383	T	.	.	0.108	0.33778	B	.;.;.;.;.;.	.;.;.;.;.;.	3.019512	0.40410	21.2	0.99141967171707424	0.53573	0.43796	0.27177	N	AEFDGBHCI	0.172631	0.29967	N	-0.256641455995331	0.30839	1.723393	-0.371645805383036	0.25845	1.423912	0.999685262839225	0.41756	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.03	2.1	0.26226	1.824000	0.38710	4.619000	0.44068	-0.169000	0.11342	0.993000	0.37899	0.971000	0.29754	0.238000	0.22948	0.1114:0.2048:0.6838:0.0	5.463	0.15921	394	0.83065	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2951.33	37	chr1	26300943	.	G	C	2951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.957;DP=978;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.619;SOR=0.771	GT:AD:DP:GQ:PL	0/1:101,116:217:99:2965,0,2588	18	0	1	0
chr1	31633200	31633200	T	C	exonic	PEF1	.	nonsynonymous SNV	PEF1:NM_001359651:exon3:c.A230G:p.N77S,PEF1:NM_012392:exon3:c.A440G:p.N147S	.	.	.	.	.	.	.	.	.	.	.	3372297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.500	0.0499204400765	7.7e-05	0.000199681	8.37e-05	9.974e-05	8.772e-05	0.0003	0	4.541e-05	0	0.0001	7.76e-05	12	154602	rs143340788	7.73e-05	7.73e-05	7.215e-05	8.251e-05	0.0007	6.533e-05	6.136e-05	0.0004	0.0003	0.0006	0.0001	0.0002	0.0001	0	0.0007	5.666e-05	0.0001	4.639e-05	0.0001	0.0001	0.0001	0.0002	0.0003	9.14e-05	7.697e-05	0.0001	9.907e-05	0.0002	0	0.0003	0	0.0002	0	0	7.349e-05	0.0005	0	0.069	0.35537	T	0.088	0.40586	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	-0.53	0.70833	T	-4.4	0.77308	D	0.696	0.70088	-0.2331	0.76806	T	0.439	0.77802	T	10	0.5887908	0.66262	D	0.04992	0.64023	D	0.500	0.78350	.	.	0.832391418235	0.83080	0.41320747691155246	0.41236	0.558772882634	0.52446	0.599169194698	0.52786	T	0.426518	0.77629	T	-0.31505	0.07310	T	-0.33629	0.40763	T	0.498733520507812	0.32583	T	0.89721	0.64041	D	0.33601928	0.55961	0.25720724	0.51433	0.33601928	0.55961	0.25720724	0.51433	-9.227	0.69146	D	.	.	0.148	0.32661	B	.	.	4.700130	0.75395	26.3	0.99848833892072564	0.92838	0.95748	0.65986	D	AEFDGBHCI	0.954066	0.97087	D	0.594217362527285	0.72814	5.865127	0.564253049218635	0.72393	5.80304	0.999999999999994	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	4.84	4.84	0.62125	7.629000	0.82391	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	14.083	0.64460	740	0.53092	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	0.003525	0.000000	0.009511	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	2494.81	34	chr1	31633200	.	T	C	2494.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.68;SOR=0.917	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2522,261,0	18	1	0	0
chr1	33635271	33635271	G	T	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon31:c.C5029A:p.Q1677K,CSMD2:NM_052896:exon31:c.C4909A:p.Q1637K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00715055697772	7.7e-05	.	5.813e-05	0	0	0	0	7.555e-05	0	0.0001	4.53e-05	7	154602	rs143173205	3.559e-05	3.557e-05	3.814e-05	3.302e-05	0.0010	2.764e-05	2.503e-05	0.0005	0.0003	0.0004	0	0	0	0	0.0010	1.979e-05	0.0001	2.32e-05	3.311e-05	3.295e-05	3.881e-05	2.714e-05	4.434e-05	1.268e-05	8.03e-06	1.177e-05	6.26e-06	2.439e-05	0	0	0	0	0	0.0032	4.434e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.367	0.34030	B	0.14	0.33554	B	0.010795	0.29783	N	0.353536	1	0.81001	D	0.3	0.10203	N	2.37	0.15964	T	-0.21	0.10308	N	0.311	0.38643	-1.0526	0.13682	T	0.033	0.14377	T	10	0.15698138	0.29554	T	0.007151	0.18951	T	0.082	0.23913	.	.	0.345175991111	0.34120	0.5832887450189136	0.58257	.	.	0.579099595547	0.49959	T	0.023933	0.18182	T	-0.33057	0.06068	T	-0.532321	0.19055	T	0.0796196048701145	0.09938	T	0.763424	0.43725	T	0.26555943	0.49625	0.26125512	0.51900	0.26555943	0.49625	0.26125512	0.51899	-7.156	0.55939	T	.	.	0.072	0.04764	B	.;.;.;.	.;.;.;.	3.160007	0.42816	21.6	0.81692445232289723	0.13812	0.91058	0.52777	D	AEFBCI	0.532299	0.55222	D	0.0615328364827691	0.44674	2.73722	0.27099249919143	0.53852	3.552	0.999993231122637	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.26897	0.05253	2	0.584449	0.35598	0	.	.	5.89	5.89	0.94758	5.193000	0.64958	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.245	0.93885	489	0.76795	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB 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	0.002039	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3750.81	33	chr1	33635271	.	G	T	3750.81	.	AC=2;AF=0.053;AN=38;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.3;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3778,384,0	18	1	0	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	119.19	186	chr1	46613215	.	G	C	119.19	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.95;DP=2309;ExcessHet=0.119;FS=110.979;InbreedingCoeff=-0.2116;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.01;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,28:127:54:.:.:54,0,2878:.	8	0	2	9
chr1	54139884	54139884	G	T	exonic	CDCP2	.	nonsynonymous SNV	CDCP2:NM_001353655:exon5:c.C986A:p.A329E,CDCP2:NM_201546:exon5:c.C986A:p.A329E	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0095	0.00778754	0.0030	0.0295	0.0017	0	0	0.0005	0.0011	0.0001	0.0028525	441	154602	rs138864964	0.0009	0.0009	0.0010	0.0008	0.0289	0.0009	0.0009	0.0274	0.0268	0.0289	0.0022	0.0020	0	1.872e-05	0.0021	0.0001	0.0021	5.797e-05	0.0085	0.0085	0.0084	0.0086	0.0283	0.0081	0.0079	0.0269	0.0264	0.0283	0	0.0051	0.0023	0	0	0.0034	0.0002	0.0085	0	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.795	0.57940	P	0.000010	0.62929	D	0.066357	0.95721	0.38013	D	1.55	0.39271	L	1.61	0.28391	T	-2.49	0.54217	N	0.382	0.42345	-1.0489	0.14705	T	0.055	0.23148	T	10	0.0064850748	0.00147	T	.	.	.	0.149	0.39377	.	.	0.344945010812	0.34105	0.557498861204305	0.55676	0.274598798256	0.29952	0.409648418427	0.26408	T	0.083934	0.37166	T	-0.603275	0.00139	T	-0.61771	0.11365	T	0.0257272730967003	0.01369	T	0.736326	0.35288	T	0.5302048	0.68842	0.6856439	0.81516	0.5302048	0.68843	0.6856439	0.81517	-6.917	0.53425	T	.	.	0.277	0.51523	B	.;.	.;.	3.427819	0.47631	22.5	0.99459625401595664	0.65736	0.83952	0.43041	D	AEFBI	.	.	.	0.581932043666143	0.72047	5.744719	0.602298490045028	0.75107	6.252347	0.976149744797198	0.29698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.7	5.7	0.88690	2.510000	0.45129	11.697000	0.94442	0.676000	0.76740	0.980000	0.35271	1.000000	0.68203	0.992000	0.67800	0.0:0.1286:0.8714:0.0	16.786	0.85437	842	0.36989	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB 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	0.003021	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1705.33	37	chr1	54139884	.	G	T	1705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.489;DP=827;ExcessHet=0;FS=4.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=2.36;SOR=0.824	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1719,0,1537	18	0	1	0
chr1	67103255	67103255	T	A	exonic	C1orf141	.	nonsynonymous SNV	C1orf141:NM_001276352:exon7:c.A542T:p.D181V	.	449	1033	37	3	0	43	0.0203888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00539137	0.0104	0.0023	0.0070	0	0.0025	0.0115	0.0102	0.0133	0.0022121	342	154602	rs182783858	0.0078	0.0075	0.0077	0.0078	0.0208	0.0076	0.0076	0.0176	0.0164	0.0011	0.0037	0.0157	5.758e-05	0.0013	0.0208	0.0080	0.0101	0.0113	0.0050	0.0050	0.0054	0.0045	0.0112	0.0047	0.0046	0.0088	0.0080	0.0010	0	0.0051	0.0158	0.0002	0.0013	0.0204	0.0071	0.0099	0.0112	0.129	0.26852	T	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999979	0.18612	N	.	.	.	.	.	.	-0.64	0.18670	N	0.133	0.12913	-0.9831	0.34281	T	0.023	0.09741	T	5	0.004222423	0.00084	T	.	.	.	0.064	0.18567	.	.	0.12205267543	0.11705	.	.	.	.	.	.	.	.	.	.	-0.543854	0.00318	T	-0.543597	0.17945	T	0.00552059366229315	0.00060	T	0.542646	0.19863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.35034	B	.;.;.	.;.;.	0.808408	0.11794	8.365	0.83758081773936288	0.14903	0.01592	0.05174	N	AEFGBI	0.042645	0.06644	N	-0.904125580540234	0.10745	0.5149883	-1.09972139414414	0.07707	0.3759127	0.217717380184154	0.18318	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.66	-3.36	0.04606	-0.011000	0.12659	0.405000	0.18046	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.608000	0.31589	0.3532:0.3567:0.0:0.2901	3.284	0.06517	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	0	0	.	.	.	.	.	.	.	.	0.02632	561.33	33	chr1	67103255	.	T	A	561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.591;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,26:66:99:575,0,974	18	0	1	0
chr1	67395667	67395667	T	A	exonic	IL12RB2	.	nonsynonymous SNV	IL12RB2:NM_001258215:exon14:c.T1909A:p.C637S,IL12RB2:NM_001559:exon16:c.T2167A:p.C723S,IL12RB2:NM_001374259:exon17:c.T2167A:p.C723S	.	422	1087	13	0	0	13	0.00594422	.	.	.	1153689	IL12RB2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0013	0.00139776	0.0024	0	0.0015	0.0001	0	0.0015	0.0044	0.0105	0.0021539	333	154602	rs144657291	0.0015	0.0015	0.0012	0.0018	0.0100	0.0015	0.0014	0.0094	0.0092	0.0002	0.0010	0.0075	0	0.0003	0.0036	0.0008	0.0020	0.0100	0.0014	0.0014	0.0013	0.0016	0.0081	0.0013	0.0012	0.0061	0.0054	9.624e-05	0	0.0018	0.0118	0.0002	0.0003	0.0034	0.0014	0.0009	0.0081	0.523	0.43708	T	0.305	0.20037	T	0.008	0.14655	B	0.002	0.06944	B	0.027660	0.01672	N	2.055580	1	0.08975	N	1.04	0.26193	L	1.16	0.38073	T	-1.03	0.31981	N	0.051	0.03841	-1.0959	0.04625	T	0.013	0.05081	T	10	0.00401327	0.00078	T	.	.	.	0.036	0.09122	0.391	0.41443	0.180583059064	0.17676	0.21174528499747977	0.21090	0.163251288877	0.18421	0.225918412209	0.01680	T	0.070212	0.33904	T	-0.611125	0.00125	T	-0.643651	0.09405	T	0.0274566821795771	0.01609	T	0.558444	0.19458	T	0.035381913	0.04153	0.055016465	0.09572	0.035381913	0.04153	0.055016465	0.09571	-2.115	0.03649	T	.	.	0.079	0.13876	B	.;.;.	.;.;.	-0.992636	0.00782	0.025	0.65680128115233283	0.07841	0.01880	0.05784	N	AEFDBI	0.088498	0.17940	N	-1.55510369656308	0.01505	0.06571165	-1.60397519775079	0.01631	0.07402698	0.897341833285068	0.26000	0.615465	0.37627	0	0.633656	0.55848	0	0.536957	0.11973	0	0.727631	0.95156	0	.	.	4.98	-3.27	0.04735	-1.526000	0.02333	-3.964000	0.02424	-2.113000	0.00388	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2497:0.2934:0.4569	4.873	0.13002	443	0.79878	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005435	0.002924	0.000000	0.000000	0.024390	0.000000	0.02632	2452.33	35	chr1	67395667	.	T	A	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=812;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.084;SOR=0.645	GT:AD:DP:GQ:PL	0/1:84,90:174:99:2466,0,2258	18	0	1	0
chr1	74205591	74205591	G	T	exonic	FPGT	.	nonsynonymous SNV	FPGT:NM_003838:exon4:c.G1544T:p.G515V,FPGT:NM_001199328:exon5:c.G782T:p.G261V	.	438	1079	5	0	0	5	0.0023116	.	.	.	3250793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0412603924561	.	0.000399361	0.0001	0	0.0003	0.0001	0	8.993e-05	0	0.0003	0.0001164	18	154602	rs200809071	6.912e-05	6.977e-05	6.264e-05	7.565e-05	0.0012	5.782e-05	5.393e-05	0.0006	0.0004	0	0.0006	0	0	0	0.0012	2.159e-05	0.0001	0.0004	7.881e-05	7.875e-05	8.997e-05	6.714e-05	0.0002	4.494e-05	3.51e-05	4.765e-05	3.339e-05	2.407e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0002	0.006	0.61437	D	0.025	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.999989	0.81001	D	.	.	.	1.49	0.31470	T	-3.82	0.71997	D	0.279	0.33250	-0.9005	0.47942	T	0.141	0.46165	T	9	0.17497957	0.32405	T	0.04126	0.59828	D	0.284	0.60219	.	.	0.379193981924	0.37526	0.47100141007130286	0.47019	.	.	.	.	.	.	.	.	-0.284951	0.10150	T	-0.325122	0.42009	T	0.339972943067551	0.26622	T	0.849215	0.53152	T	0.2395253	0.46844	0.30826125	0.56845	0.2395253	0.46844	0.30826125	0.56844	-4.64	0.32670	T	.	.	0.187	0.51925	B	.;.	.;.	4.238824	0.64244	24.7	0.99685770924337591	0.79574	0.98974	0.89400	D	AEFDBIJ	0.907110	0.86073	D	0.737644529230296	0.82097	7.679501	0.680844589958572	0.80929	7.408776	0.999999885350259	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	7.776000	0.84252	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.426000	0.27362	0.0783:0.0:0.9217:0.0	12.902	0.57526	941	0.13089	L-fucokinase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	2064.33	97	chr1	74205591	.	G	T	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=1267;ExcessHet=0;FS=4.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.081;SOR=1.108	GT:AD:DP:GQ:PL	0/1:76,78:154:99:2078,0,1906	18	0	1	0
chr1	77992788	77992788	G	T	exonic	DNAJB4	.	nonsynonymous SNV	DNAJB4:NM_001317100:exon2:c.G13T:p.D5Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	.	0	.	0	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	719.33	34	chr1	77992788	.	G	T	719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=720;ExcessHet=0;FS=6.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.127;SOR=1.375	GT:AD:DP:GQ:PL	0/1:55,30:85:99:733,0,1406	18	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	872.8	78	chr1	85158755	.	A	G	872.8	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.11;DP=1169;ExcessHet=0.7564;FS=87.916;InbreedingCoeff=-0.1339;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=0.078;SOR=8.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,14:71:7:0|1:85158755_A_G:7,0,1699:85158755	14	0	4	1
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,17:70:99:0|1:85158755_A_G:173,0,1475:85158755	4	0	11	4
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|1:69,29:98:99:0|1:99884396_T_C:525,0,1463:99884396	4	0	15	0
chr1	109250113	109250113	-	CGT	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.34_35insCGT:p.T12_P13insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1e-05	1.231e-05	0	2.214e-05	0.0004	6.6e-06	5.24e-06	9.607e-05	7.608e-05	0	0	0	0	0	0.0004	0	0	0.0002	6.632e-06	6.573e-06	0	1.359e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	24347.9	48	chr1	109250113	.	A	ACGT	24347.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=967;ExcessHet=5.6906;FS=0.604;InbreedingCoeff=-0.2862;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.18;ReadPosRankSum=-0.219;SOR=0.723	GT:AD:DP:GQ:PL	0/1:16,19:35:99:749,0,615	18	0	1	0
chr1	109281881	109281881	G	A	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.C257T:p.A86V,PSRC1:NM_001005290:exon4:c.C257T:p.A86V,PSRC1:NM_001032291:exon4:c.C257T:p.A86V,PSRC1:NM_001350238:exon4:c.C257T:p.A86V,PSRC1:NM_001350239:exon4:c.C257T:p.A86V,PSRC1:NM_001350240:exon4:c.C257T:p.A86V,PSRC1:NM_001350241:exon4:c.C257T:p.A86V,PSRC1:NM_001350242:exon4:c.C257T:p.A86V,PSRC1:NM_001363309:exon4:c.C257T:p.A86V,PSRC1:NM_032636:exon4:c.C257T:p.A86V	.	434	1063	23	2	0	27	0.0125406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0018	0.00159744	0.0033	0.0007	0.0009	0	0.0023	0.0029	0.0023	0.0104	0.0030271	468	154602	rs116496512	0.0032	0.0032	0.0029	0.0034	0.0132	0.0031	0.0031	0.0108	0.0099	0.0007	0.0014	0.0035	0	0.0022	0.0132	0.0030	0.0029	0.0096	0.0022	0.0022	0.0021	0.0023	0.0064	0.0020	0.0019	0.0046	0.0040	0.0004	0.0011	0.0014	0.0043	0	0.0024	0.0171	0.0031	0.0028	0.0064	0.006	0.63226	D	0.0	0.92824	D	0.01	0.15535	B	0.027	0.21085	B	0.027528	0.25742	N	0.397080	1	0.08975	N	2.075	0.57047	M	0.18	0.60361	T	-2.26	0.50502	N	0.229	0.28498	-1.0019	0.29372	T	0.080	0.31586	T	10	0.0059845746	0.00134	T	.	.	.	0.133	0.36157	.	.	0.650309897564	0.64740	0.2293252498829944	0.22847	0.20603035663	0.23027	0.357421278954	0.19009	T	0.066274	0.39161	T	-0.361159	0.04065	T	-0.283595	0.46435	T	0.0356868979356617	0.02925	T	0.675332	0.28377	T	0.15835074	0.35630	0.1507517	0.35539	0.15835074	0.35630	0.1507517	0.35539	-7.069	0.54537	T	.	.	0.139	0.30370	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.896661	0.38380	20.7	0.99884311473574006	0.95970	0.20971	0.21235	N	AEFDBHI	0.297057	0.40674	N	-0.540945000539414	0.20769	1.097295	-0.513461371108263	0.21788	1.180281	0.999999834253446	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	6.03	5.12	0.69459	2.337000	0.43605	6.645000	0.56196	0.676000	0.76740	0.060000	0.21767	0.998000	0.33993	0.447000	0.27828	0.0826:0.0:0.9174:0.0	11.417	0.49198	650	0.62973	.;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, 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	0.004532	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.05263	2656.83	34	chr1	109281881	.	G	A	2656.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.869;DP=801;ExcessHet=0.119;FS=4.246;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.498;SOR=0.728	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1349,0,982	17	0	2	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|1:99,24:123:99:0|1:110222977_C_G:233,0,3632:110222977	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|1:99,24:123:99:0|1:110222977_C_G:233,0,3632:110222977	8	0	11	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	0/1:69,38:116:99:263,0,1230	3	0	16	0
chr1	116616395	116616395	A	C	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon3:c.T106G:p.S36A,IGSF3:NM_001542:exon3:c.T106G:p.S36A	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0171542218026	.	.	4.35e-05	0	0	0	0	6.355e-05	0	6.252e-05	3.84e-05	1	26028	rs763295548	1.577e-05	1.573e-05	8.188e-06	2.343e-05	0.0005	1.05e-05	8.77e-06	8.512e-05	3.545e-05	0	0	0	0	0	0.0005	1.171e-05	4.986e-05	5.805e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.10517	T	0.286	0.22084	T	0.997	0.70673	D	0.982	0.75477	D	0.000058	0.53742	D	0.132624	0.999998	0.58761	D	2.295	0.65404	M	4.11	0.02916	T	-1.24	0.31375	N	0.642	0.65416	-0.9091	0.46965	T	0.015	0.06282	T	10	0.7555025	0.75951	D	0.017154	0.38730	T	0.206	0.49396	0.423	0.46693	0.623116182173	0.62006	0.2701670396184123	0.26929	1.37602116957	0.84662	0.608052253723	0.54041	T	0.039007	0.25040	T	-0.241529	0.15154	T	-0.402569	0.33086	T	0.768515944480896	0.44350	D	0.688231	0.29741	T	0.10604356	0.25075	0.09516991	0.22558	0.10604356	0.25075	0.09516991	0.22558	-6.254	0.48967	T	.	.	0.203	0.44579	B	.;.;.	.;.;.	4.507396	0.70554	25.5	0.99510344990499655	0.68558	0.99135	0.91741	D	AEFBI	0.887157	0.81917	D	0.654552000669151	0.76664	6.528448	0.625685809119065	0.76812	6.560267	0.999979864973408	0.50053	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.65	4.65	0.57626	6.987000	0.75976	8.056000	0.76378	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.059	0.52852	656	0.62345	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	38	chr1	116616395	.	A	C	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.001;DP=668;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.77;MQRankSum=-1.69;QD=15.71;ReadPosRankSum=0.641;SOR=0.428	GT:AD:DP:GQ:PL	0/1:16,27:43:99:689,0,473	18	0	1	0
chr1	120449241	120449241	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.C827T:p.A276V	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782789067	0.0006	0.0022	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	6.761e-05	0.0002	0	3.756e-05	0.0005	0.0008	0.0004	0.0002	9.259e-05	0.0006	0.0001	8.128e-05	0.0004	5.562e-05	4.392e-05	7.395e-05	5.118e-05	2.425e-05	0	6.592e-05	0.0003	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	.	.	.	.	.	.	.	.	0.05263	143.83	116	chr1	120449241	.	C	T	143.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.631;DP=1893;ExcessHet=0.119;FS=5.409;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=38.23;MQRankSum=-0.11;QD=0.24;ReadPosRankSum=1.72;SOR=0.607	GT:AD:DP:GQ:PL	0/1:303,45:348:85:85,0,7604	17	0	2	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	1570.43	40	chr1	148123871	.	C	A	1570.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.97;DP=783;ExcessHet=0.7564;FS=2.799;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=34.29;MQRankSum=2.75;QD=8.22;ReadPosRankSum=-0.486;SOR=0.94	GT:AD:DP:GQ:PL	0/1:22,13:35:99:328,0,632	15	0	4	0
chr1	150497543	150497543	A	G	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon6:c.A644G:p.H215R,TARS2:NM_001271895:exon8:c.A788G:p.H263R,TARS2:NM_025150:exon10:c.A1034G:p.H345R	.	428	1089	5	0	0	5	0.00229043	.	.	.	364463	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	0.0224772810314	0.0062	0.00179712	0.0051	0.0014	0.0014	0	0.0073	0.0074	0.0088	0.0022	0.0051746	800	154602	rs115390773	0.0068	0.0068	0.0070	0.0066	0.0078	0.0067	0.0066	0.0077	0.0076	0.0010	0.0021	0.0007	0	0.0101	0.0053	0.0078	0.0063	0.0020	0.0054	0.0054	0.0052	0.0055	0.0072	0.0050	0.0049	0.0067	0.0065	0.0012	0.1156	0.0030	0.0006	0	0.0101	0.0034	0.0072	0.0038	0.0012	0.474	0.10945	T	0.69	0.11407	T	0.0	0.02946	B	0.001	0.04355	B	0.001625	0.38439	N	0.251191	1	0.81001	D	-2.42	0.00071	N	-0.1	0.64264	T	2.55	0.00222	N	0.188	0.20528	-1.0527	0.13655	T	0.016	0.06377	T	10	0.004318863	0.00087	T	0.022477	0.45373	T	0.067	0.19503	.	.	0.367612772649	0.36367	0.5335454136905511	0.53279	0.515429993858	0.49451	0.318209052086	0.13150	T	0.003229	0.06968	T	-0.618769	0.00112	T	-0.6522	0.08801	T	0.00351738604523017	0.00037	T	0.60264	0.22576	T	0.017723493	0.00297	0.031311452	0.01704	0.018937642	0.00417	0.034975633	0.02661	2.63	0.00071	T	0.033098511950648064	0.00136	0.047	0.00243	B	.;.;.;.	.;.;.;.	-0.091914	0.03689	0.749	0.25475923750142315	0.01176	0.01253	0.04406	N	AEFDGBI	0.032176	0.03584	N	-1.39773382501968	0.02660	0.1177558	-1.21022998561263	0.05744	0.2745864	2.72357574607139E-4	0.06300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	0.482	0.16025	0.013000	0.13206	0.324000	0.17215	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.790000	0.37311	0.4432:0.1277:0.2981:0.131	2.039	0.03332	154	0.93967	Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Threonyl/alanyl tRNA synthetase, SAD|Threonine-tRNA ligase catalytic 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	1	0	.	.	.	.	.	.	.	.	0.02632	331.33	36	chr1	150497543	.	A	G	331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.056;DP=641;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.466;SOR=0.26	GT:AD:DP:GQ:PL	0/1:11,14:25:99:345,0,343	18	0	1	0
chr1	150966805	150966805	C	T	exonic	CERS2	.	nonsynonymous SNV	CERS2:NM_022075:exon9:c.G799A:p.V267I,CERS2:NM_181746:exon9:c.G799A:p.V267I	.	416	1100	6	0	0	6	0.00271985	.	.	.	2809244	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.259	0.0861433383445	0.0052	0.00139776	0.0044	0.0013	0.0009	0	0.0060	0.0067	0.0077	0.0008	0.0044049	681	154602	rs149992226	0.0057	0.0057	0.0059	0.0056	0.0066	0.0056	0.0056	0.0065	0.0064	0.0009	0.0021	0.0007	2.519e-05	0.0087	0.0050	0.0066	0.0056	0.0008	0.0041	0.0041	0.0039	0.0042	0.0062	0.0038	0.0037	0.0057	0.0055	0.0010	0.0110	0.0027	0.0006	0	0.0087	0	0.0062	0.0033	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.082	0.24665	B	0.016	0.17743	B	0.045501	0.23530	N	0.432065	0.506783	0.35111	D	0.955	0.23872	L	-2.02	0.85542	D	0.4	0.03463	N	0.101	0.10483	-0.9662	0.37974	T	0.141	0.46091	T	10	0.009523839	0.00215	T	0.086143	0.74676	D	0.259	0.57090	.	.	0.506211326956	0.50260	0.3773828193069793	0.37653	0.473242482484	0.46558	0.335771918297	0.15805	T	0.297313	0.66992	T	-0.389189	0.02723	T	-0.326552	0.41851	T	0.00465204864061136	0.00050	T	0.681532	0.29028	T	0.026583321	0.01734	0.03311632	0.02154	0.026583321	0.01734	0.03311632	0.02154	-1.59	0.01959	T	.	.	0.082	0.08512	B	.;.;.;.	.;.;.;.	0.255302	0.06340	2.804	0.85889374377096495	0.16177	0.34362	0.25049	N	AEFBHCI	0.328095	0.42887	N	-1.47447815784535	0.02032	0.08928095	-1.36004425520012	0.03689	0.1725863	0.999635956049564	0.41205	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	-0.581	0.11126	-0.256000	0.08778	-0.523000	0.08678	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.777000	0.36790	0.0:0.6921:0.0:0.3079	12.443	0.54971	117	0.95266	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Likely benign	0	0	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	1731.33	41	chr1	150966805	.	C	T	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.363;DP=770;ExcessHet=0;FS=2.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.193;SOR=0.489	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1745,0,1241	18	0	1	0
chr1	151405611	151405611	G	A	exonic	POGZ	.	stopgain	POGZ:NM_145796:exon17:c.C3139T:p.R1047X,POGZ:NM_207171:exon17:c.C3265T:p.R1089X,POGZ:NM_001194938:exon18:c.C3238T:p.R1080X,POGZ:NM_001194937:exon19:c.C3397T:p.R1133X,POGZ:NM_015100:exon19:c.C3424T:p.R1142X	White-Sutton syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	789842	Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome|not_provided	MONDO:MONDO:0014606,MedGen:C4225351,OMIM:616364,Orphanet:468678|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000015	0.62929	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.397	0.48689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	8.358904	0.97470	37	0.99673025631876644	0.78717	0.95623	0.65465	D	AEFDGBCI	0.160166	0.28607	N	0.726159225383348	0.81348	7.500963	0.601966466745956	0.75084	6.248105	0.982092505015691	0.30352	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	4.94	0.64645	1.871000	0.39176	8.638000	0.77881	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.6922:0.3078	13.297	0.59740	191	0.92559	.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2233.33	34	chr1	151405611	.	G	A	2233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=879;ExcessHet=0;FS=4.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.487;SOR=1.04	GT:AD:DP:GQ:PL	0/1:86,78:164:99:2247,0,2213	18	0	1	0
chr1	152213889	152213891	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.7738_7740del:p.H2580del	.	590	927	5	0	0	5	0.00268962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230403957	1.296e-05	0.0004	1.166e-05	1.414e-05	0.0001	5.39e-06	3.46e-06	5.23e-05	3.541e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	4.628e-05	0.0003	1.762e-05	7.797e-05	0.0013	1.753e-05	1.182e-05	0.0004	0.0003	4.282e-05	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	386.79	43	chr1	152213888	.	CGTG	C	386.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=1051;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=25.06;MQRankSum=0.771;QD=3;ReadPosRankSum=1.1;SOR=0.672	GT:AD:DP:GQ:PL	0/1:68,9:77:99:173,0,2811	17	0	2	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|1:233,28:261:99:1|0:152214800_C_T:435,0,9646:152214800	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|1:233,28:261:99:1|0:152214800_C_T:435,0,9646:152214800	9	0	10	0
chr1	152215299	152215301	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.6328_6330del:p.H2110del	.	437	1069	16	0	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	0	0	0	0.0682	4.53e-05	7	154602	rs758102976	6.168e-06	0.0002	4.091e-06	8.266e-06	6.042e-05	2.9e-06	2.1e-06	1.001e-05	3.74e-06	6.042e-05	2.244e-05	0	0	0	0	5.401e-06	0	0	1.784e-05	7.561e-05	1.712e-05	1.862e-05	3.893e-05	2.96e-06	1.11e-06	.	.	3.893e-05	0	0	0	0	0	0	1.744e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005898	0.000000	0.001538	0.004902	0.000000	0.019231	0.008333	0.014019	0.05263	135.77	97	chr1	152215298	.	CGTG	C	135.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.207;DP=2625;ExcessHet=0.119;FS=8.723;InbreedingCoeff=-0.0427;MLEAC=1;MLEAF=0.026;MQ=30.46;MQRankSum=0.236;QD=0.28;ReadPosRankSum=0.614;SOR=4.016	GT:AD:DP:GQ:PL	0/1:238,17:255:1:1,0,9735	17	0	2	0
chr1	152216709	152216711	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.4918_4920del:p.H1640del	.	491	1022	9	0	0	9	0.00438383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403795514	6.077e-05	0.0006	4.854e-05	7.283e-05	0.0007	4.767e-05	4.358e-05	0.0005	0.0004	0	0	0	2.914e-05	0	0.0003	1.703e-05	7.089e-05	0.0007	4.618e-05	0.0002	0	9.894e-05	0.0009	1.478e-05	9.26e-06	0.0002	6.698e-05	6.124e-05	0	0	0	0	0	0	2.077e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	413.79	22	chr1	152216708	.	CGTG	C	413.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.63;DP=940;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=24.54;MQRankSum=1.29;QD=4.36;ReadPosRankSum=-1.055;SOR=0.044	GT:AD:DP:GQ:PL	0/1:38,10:48:99:306,0,1564	17	0	2	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	4465.79	1333	chr1	152306286	.	A	C	4465.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.757;DP=13859;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.24;MQRankSum=-9.886;QD=1.08;ReadPosRankSum=5.9;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1151,90:1241:99:0|1:152306286_A_C:274,0,47585:152306286	16	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4024.75	1333	chr1	152306292	.	G	GCC	4024.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.203;DP=13924;ExcessHet=0.3672;FS=0.953;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.62;MQRankSum=-10.23;QD=0.95;ReadPosRankSum=6.22;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1193,89:1282:99:0|1:152306286_A_C:126,0,49552:152306286	16	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3840.75	1333	chr1	152306294	.	ATG	A	3840.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.481;DP=13958;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.84;MQRankSum=-10.23;QD=0.9;ReadPosRankSum=5.99;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1205,88:1293:68:0|1:152306286_A_C:68,0,50231:152306286	16	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	3485.79	1333	chr1	152306299	.	T	A	3485.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.225;DP=13952;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=54.17;MQRankSum=-10.57;QD=0.82;ReadPosRankSum=5.09;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1214,88:1302:41:0|1:152306286_A_C:41,0,50711:152306286	16	0	3	0
chr1	152759907	152759907	G	A	exonic	KPRP	.	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.G319A:p.V107I	.	430	1072	18	2	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00143544866918	0.0010	0.00179712	0.0019	0.0003	0.0005	0	0.0003	0.0012	0.0033	0.0083	0.0016882	261	154602	rs141893273	0.0014	0.0014	0.0012	0.0016	0.0081	0.0013	0.0013	0.0076	0.0074	8.965e-05	0.0013	0.0054	0	0.0002	0.0033	0.0009	0.0015	0.0081	0.0014	0.0014	0.0012	0.0016	0.0069	0.0013	0.0012	0.0050	0.0044	0.0004	0	0.0046	0.0072	0	0	0.0068	0.0010	0.0014	0.0069	.	.	.	0.166	0.30828	T	0.001	0.07471	B	0.01	0.14941	B	0.197705	0.16681	N	0.502898	1	0.08975	N	1.455	0.36767	L	.	.	.	.	.	.	0.135	0.13198	-0.9933	0.31749	T	0.013	0.05081	T	10	0.0041950047	0.00083	T	0.001435	0.02139	T	.	.	.	.	0.0986583533028	0.09354	0.0326603906186976	0.03214	.	.	0.262207508087	0.05156	T	0.011288	0.10090	T	-0.583315	0.00184	T	-0.605963	0.12315	T	0.00202387368533371	0.00021	T	0.352865	0.07937	T	0.031186612	0.02914	0.034994595	0.02667	0.031186612	0.02914	0.034994595	0.02667	-5.355	0.40484	T	.	.	0.082	0.08948	B	.	.	0.144917	0.05383	1.861	0.57246240920058877	0.05727	0.06025	0.11992	N	AEFDGBHIJ	0.040569	0.06054	N	-0.85380326589887	0.11956	0.5799864	-0.853312163780188	0.13208	0.6839292	0.999999999064034	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	3.73	0.41982	0.675000	0.24912	.	.	-0.119000	0.14319	0.001000	0.13787	0.006000	0.19429	0.001000	0.02609	0.1692:0.0:0.8308:0.0	9.188	0.36341	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	2316.33	303	chr1	152759907	.	G	A	2316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.23;DP=2064;ExcessHet=0;FS=2.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.015;SOR=0.906	GT:AD:DP:GQ:PL	0/1:119,84:203:99:2330,0,3309	18	0	1	0
chr1	153544677	153544677	G	A	exonic	S100A4	.	nonsynonymous SNV	S100A4:NM_002961:exon2:c.C118T:p.R40W,S100A4:NM_019554:exon3:c.C118T:p.R40W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0375060662816	.	0.000199681	0.0001	0.0002	8.637e-05	0	0	4.496e-05	0	0.0007	0.0001229	19	154602	rs576307674	4.994e-05	4.994e-05	3.675e-05	6.325e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	5.974e-05	2.236e-05	0	2.519e-05	0	0.0010	1.169e-05	0.0002	0.0005	5.91e-05	5.906e-05	5.141e-05	6.714e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.007e-05	7.221e-05	0	0	0	0	0	0	4.411e-05	0	0.0006	0.009	0.57480	D	0.004	0.74150	D	0.996	0.68779	D	0.96	0.70309	D	0.150612	0.17980	N	0.540673	0.651903	0.30526	N	2.24	0.63355	M	2.86	0.10482	T	-4.05	0.74504	D	0.414	0.45426	-1.1132	0.02809	T	0.030	0.12892	T	10	0.23982707	0.41130	T	0.037506	0.57658	D	0.075	0.21907	0.509	0.60540	0.717020191167	0.71453	0.4687445027751802	0.46793	0.548597812381	0.51797	0.432840526104	0.29596	T	0.358109	0.72472	T	-0.394811	0.02503	T	-0.448517	0.27861	T	0.356687754392624	0.27279	T	0.969003	0.88824	D	0.19147393	0.40776	0.18557078	0.41678	0.19147393	0.40776	0.18557078	0.41677	-9.744	0.72365	D	.	.	0.281	0.51592	B	.;.;.;.	.;.;.;.	4.501317	0.70410	25.5	0.99903420431661694	0.97502	0.07059	0.13085	N	AEFDGBCI	0.493427	0.52965	N	0.0932795210384736	0.46149	2.859828	-0.0340708783299594	0.38188	2.246271	0.999989313078375	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.662677	0.59975	0	0.550183	0.17644	0	.	.	4.83	1.55	0.22356	1.015000	0.29565	1.427000	0.26414	0.676000	0.76740	0.001000	0.13787	0.008000	0.19753	0.979000	0.57723	0.0:0.0:0.4397:0.5603	9.942	0.40754	830	0.39242	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	2895.83	143	chr1	153544677	.	G	A	2895.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=959;ExcessHet=0.119;FS=4.131;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=3.45;SOR=0.5	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1593,0,1328	17	0	2	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:78,36:125:99:197,0,1044	7	0	10	2
chr1	153969060	153969060	C	T	exonic	CREB3L4	.	nonsynonymous SNV	CREB3L4:NM_001255978:exon3:c.C305T:p.P102L,CREB3L4:NM_001255979:exon3:c.C305T:p.P102L,CREB3L4:NM_001255980:exon3:c.C245T:p.P82L,CREB3L4:NM_001255981:exon3:c.C245T:p.P82L,CREB3L4:NM_130898:exon3:c.C305T:p.P102L	.	426	1072	23	0	1	24	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0237530776103	0.0021	0.00159744	0.0021	0.0005	0.0023	0	0.0003	0.0030	0.0055	0.0008	0.0020246	313	154602	rs145524837	0.0020	0.0020	0.0020	0.0020	0.0208	0.0020	0.0020	0.0178	0.0166	0.0011	0.0026	0.0103	0	7.488e-05	0.0208	0.0019	0.0033	0.0009	0.0020	0.0020	0.0020	0.0020	0.0052	0.0018	0.0017	0.0042	0.0039	0.0003	0	0.0052	0.0144	0	9.409e-05	0.0204	0.0020	0.0043	0.0012	0.035	0.44029	D	0.091	0.40110	T	0.009	0.15093	B	0.006	0.12133	B	0.116301	0.19199	N	0.526054	0.999999	0.81001	D	1.545	0.39105	L	1.5	0.31205	T	-4.11	0.74980	D	0.1	0.13626	-1.1149	0.02681	T	0.056	0.23450	T	9	0.0041995347	0.00084	T	0.023753	0.46723	T	0.045	0.12272	.	.	0.59394422163	0.59072	0.20103837455742993	0.20020	0.0457446897951	0.04968	0.373551338911	0.21341	T	0.109296	0.70926	T	-0.515253	0.00469	T	-0.510568	0.21257	T	0.036404728261075	0.03051	T	0.741226	0.36808	T	0.07794568	0.17721	0.1271747	0.30618	0.07794568	0.17721	0.1271747	0.30617	-4.292	0.28065	T	.	.	0.073	0.05979	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.546140	0.19823	14.45	0.88629529250892269	0.18128	0.24129	0.22297	N	AEFDBCI	0.241948	0.36349	N	-0.334680935260879	0.27839	1.530635	-0.336698483472447	0.26924	1.490462	0.999999726237806	0.74766	0.542737	0.22433	0	0.587265	0.34161	0	0.685571	0.62057	0	0.444512	0.06955	0	.	.	4.71	3.79	0.42757	0.353000	0.19868	1.268000	0.25273	0.530000	0.24713	0.028000	0.20300	0.001000	0.17328	0.795000	0.37519	0.0:0.8364:0.1636:0.0	12.993	0.58035	75	0.96833	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1284.33	37	chr1	153969060	.	C	T	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=771;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.843;SOR=0.743	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1298,0,1083	18	0	1	0
chr1	161525238	161525238	G	A	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G580A:p.E194K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00415609767531	.	.	0.0002	9.913e-05	8.663e-05	0.0002	0.0011	0.0002	0	0.0001	0.000461	12	26028	rs41297714	9.312e-05	0.0003	8.857e-05	9.772e-05	0.0004	8.033e-05	7.525e-05	0.0003	0.0002	8.961e-05	4.474e-05	0	0.0004	0.0005	0	6.21e-05	1.657e-05	0.0002	0.0001	0.0002	2.573e-05	0.0002	0.0002	6.516e-05	5.327e-05	2.26e-05	9.07e-06	0	0	0.0001	0	0.0002	0.0009	0	4.412e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.469	0.36524	P	0.394	0.44277	B	0.000545	0.43413	U	0.000000	0.999055	0.45965	D	3.445	0.92174	M	2.82	0.10871	T	-3.12	0.63782	D	0.403	0.44379	-1.1459	0.01153	T	0.039	0.16634	T	10	0.11169535	0.20924	T	0.004156	0.09963	T	0.155	0.40530	.	.	0.491112125781	0.48745	0.16582593583199207	0.16502	.	.	0.690599739552	0.65793	T	0.019564	0.15561	T	-0.301708	0.08499	T	-0.379011	0.35840	T	0.555747270584106	0.34694	D	0.847115	0.52772	T	0.78781104	0.83137	0.5543965	0.74228	0.78781104	0.83138	0.5543965	0.74229	-12.286	0.86216	D	.	.	0.323	0.54754	B	.	.	2.337496	0.29950	18.29	0.99839552832052192	0.92057	0.94583	0.61639	D	AEFDBI	0.669447	0.63687	D	-0.0316419242072472	0.40426	2.400555	-0.17917131774579	0.32302	1.836495	0.999998829585728	0.74766	0.495885	0.18260	0	0.435331	0.06439	0	0.608004	0.38603	0	0.638787	0.57140	0	.	.	2.93	1.99	0.25423	4.628000	0.60981	3.288000	0.37283	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.2149:0.7851:0.0	9.659	0.39107	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1474.33	34	chr1	161525238	.	G	A	1474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.075;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.27;MQRankSum=-4.981;QD=14.31;ReadPosRankSum=-0.505;SOR=0.653	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1488,0,1409	18	0	1	0
chr1	173811224	173811224	G	A	exonic	CENPL	.	nonsynonymous SNV	CENPL:NM_001171182:exon2:c.C76T:p.P26S,CENPL:NM_001127181:exon3:c.C76T:p.P26S,CENPL:NM_033319:exon3:c.C76T:p.P26S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00653197662814	0.0002	.	0.0002	0	0.0002	0	0	8.99e-05	0	0.0007	0.0001423	22	154602	rs139831401	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	0.0003	0.0002	0.0008	0	0	0.0012	5.938e-05	0.0004	0.0006	9.857e-05	9.85e-05	0.0001	8.071e-05	0.0001	6.007e-05	4.88e-05	4.764e-05	3.339e-05	4.826e-05	0	6.543e-05	0.0006	0	0	0	0.0001	0.0014	0	0.225	0.18626	T	0.195	0.28032	T	0.087	0.45299	B	0.09	0.35463	B	0.173580	0.17304	N	0.590904	0.959672	0.26177	N	2.14	0.59869	M	1.33	0.45248	T	-1.31	0.32791	N	0.44	0.47857	-1.0535	0.13440	T	0.029	0.12322	T	10	0.07098204	0.10401	T	0.006532	0.17215	T	0.040	0.10527	.	.	0.244449712813	0.24043	0.44278378927805434	0.44195	0.214648875101	0.24003	0.399474531412	0.24995	T	0.015129	0.12752	T	-0.401071	0.02278	T	-0.446295	0.28107	T	0.0287920323901568	0.01806	T	0.792521	0.43410	T	0.032892533	0.03400	0.044959664	0.05943	0.032892533	0.03400	0.044959664	0.05942	-3.945	0.24489	T	.	.	0.138	0.30211	B	.;.;.	.;.;.	1.945360	0.24712	16.50	0.76056679360307478	0.11316	0.58404	0.30633	D	AEFDBI	0.069867	0.13847	N	-0.420163103315536	0.24763	1.339414	-0.36371799665001	0.26088	1.438749	2.01789722475588E-4	0.05948	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.68	2.81	0.31971	1.902000	0.39479	5.527000	0.48837	-0.133000	0.13014	0.993000	0.37899	1.000000	0.68203	0.631000	0.32184	0.2888:0.0:0.7112:0.0	6.698	0.22396	168	0.93464	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	617.33	33	chr1	173811224	.	G	A	617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=692;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.277;SOR=0.801	GT:AD:DP:GQ:PL	0/1:35,26:61:99:631,0,768	18	0	1	0
chr1	179557056	179557056	C	G	exonic	NPHS2	.	nonsynonymous SNV	NPHS2:NM_014625:exon5:c.G709C:p.E237Q	Nephrotic syndrome, type 2, Autosomal recessive	2	1503	17	0	0	17	0.00562355	.	.	.	587964	NPHS2-related_disorder|not_specified|Steroid-resistant_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|Nephrotic_syndrome,_type_2|not_provided	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.530	0.3287275204	0.0007	0.000199681	0.0007	0.0001	0.0004	0	0	0.0012	0.0023	6.337e-05	0.0006274	97	154602	rs146906190	0.0005	0.0005	0.0005	0.0006	0.0168	0.0005	0.0005	0.0141	0.0131	0.0002	0.0002	0.0091	0	1.874e-05	0.0168	0.0003	0.0013	0.0002	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	7.215e-05	0	0.0001	0.0072	0	0	0.0068	0.0004	0.0005	0.0006	0.027	0.46513	D	0.122	0.35710	T	0.774	0.44062	P	0.688	0.53700	P	0.000178	0.48594	D	0.180712	0.999999	0.81001	D	1.5	0.37844	L	-3.25	0.93532	D	-2.33	0.51646	N	0.537	0.56489	0.684	0.92980	D	0.799	0.93202	D	10	0.02762732	0.00905	T	0.328728	0.91688	D	0.530	0.80188	.	.	0.874070014769	0.87284	0.6292540068133019	0.62858	0.911401186094	0.71076	0.638917267323	0.58409	T	0.682374	0.90686	D	-0.135093	0.30675	T	-0.0653857	0.65953	T	0.122046880424023	0.14628	T	0.90231	0.65919	D	0.3092608	0.53722	0.21670994	0.46309	0.4156782	0.61803	0.24765548	0.50299	-6.487	0.50186	T	0.3020028723557032	0.39941	0.156	0.34470	B	.	.	4.520493	0.70871	25.6	0.9983389268589602	0.91542	0.96063	0.67365	D	AEFGBI	0.681745	0.64499	D	0.52061191082589	0.68311	5.200	0.600863106300951	0.75001	6.234219	0.999857949924407	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	4.470000	0.59908	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.918	0.92484	549	0.72275	Band 7 domain|Band 7 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	0.014113	0.015306	0.013587	0.038012	0.000000	0.017241	0.000000	0.003788	0.02632	1688.33	33	chr1	179557056	.	C	G	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=748;ExcessHet=0;FS=1.788;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.483;SOR=0.949	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1702,0,1654	18	0	1	0
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	0/1:66,25:105:28:28,0,1582	12	0	3	4
chr1	183586955	183586955	C	T	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_000433:exon2:c.G197A:p.R66Q,NCF2:NM_001190789:exon2:c.G197A:p.R66Q,NCF2:NM_001190794:exon2:c.G197A:p.R66Q,NCF2:NM_001127651:exon3:c.G197A:p.R66Q	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	761392	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|Inborn_genetic_diseases	MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.0192778636167	7.7e-05	0.000199681	0.0001	0	8.637e-05	0	0	0.0002	0	6.056e-05	0.0001294	20	154602	rs142803799	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0005	0.0004	0	0.0001	0.0031	0.0007	0	0.0009	6.565e-05	0.0004	1.159e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.738e-05	8.253e-05	6.805e-05	5.088e-05	4.812e-05	0	6.533e-05	0.0023	0.0002	0	0	0.0001	0.0005	0	0.425	0.36912	T	0.214	0.27591	T	0.05	0.22331	B	0.005	0.11217	B	0.008021	0.31057	N	0.330937	1	0.08975	N	2.135	0.59519	M	0.29	0.58897	T	-1.41	0.35597	N	0.37	0.43029	-1.0281	0.21070	T	0.099	0.36932	T	10	0.01787427	0.00385	T	0.019278	0.41600	T	0.030	0.07022	.	.	0.446211707333	0.44242	0.13313142058989438	0.13237	0.360806098794	0.37744	0.241206169128	0.02900	T	0.242916	0.61175	T	-0.355008	0.04420	T	-0.522019	0.20090	T	0.0263366213632394	0.01451	T	0.822218	0.48193	T	0.3224268	0.54844	0.18238722	0.41162	0.3224268	0.54844	0.18238722	0.41161	-3.573	0.31779	T	0.308122722376982	0.40589	0.085	0.10159	B	.;.;.;.	.;.;.;.	2.151955	0.27411	17.45	0.97164662000995983	0.32647	0.05244	0.11078	N	AEFBI	0.061589	0.11784	N	-0.821241723579229	0.12768	0.6245154	-0.81718168488076	0.14079	0.7338135	0.999767723019943	0.42728	0.660085	0.49399	0	0.662677	0.63036	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	5.17	2.08	0.26079	0.815000	0.26910	0.549000	0.19403	-0.313000	0.06017	0.001000	0.13787	0.757000	0.26594	0.984000	0.60418	0.0:0.6644:0.0:0.3356	8.939	0.34878	714	0.56256	.;.;Tetratricopeptide repeat-containing domain;Tetratricopeptide 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	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1413.33	33	chr1	183586955	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.815;DP=766;ExcessHet=0;FS=1.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.664;SOR=0.841	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1427,0,1246	18	0	1	0
chr1	185965867	185965867	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon14:c.G2164A:p.E722K	.	.	.	.	.	.	.	.	.	.	.	277846	Age_related_macular_degeneration_1|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.249	0.0838323617271	0.0009	.	0.0007	0	0.0002	0	0	0.0012	0.0011	6.057e-05	0.0006145	95	154602	rs34692227	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0012	0.0009	2.994e-05	0.0003	0.0158	0	0	0.0021	0.0001	0.0014	2.32e-05	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	9.056e-05	7.018e-05	0	0	0.0002	0.0144	0	0	0	0.0002	0.0005	0	0.539	0.06824	T	0.02	0.58613	D	0.302	0.32608	B	0.36	0.43183	B	0.000004	0.62929	D	0.103031	0.999995	0.58761	D	1.23	0.30720	L	-0.29	0.67712	T	-1.88	0.43906	N	0.758	0.75650	-0.6881	0.60997	T	0.309	0.67958	T	10	0.021733731	0.00527	T	0.083832	0.74198	D	0.249	0.55752	.	.	0.750119961027	0.74786	0.7697103094894022	0.76920	0.104594457088	0.11836	0.671217679977	0.63011	T	.	.	.	-0.075386	0.40462	T	-0.0485038	0.67125	D	0.0336835851475548	0.02585	T	0.880812	0.59928	D	0.28152493	0.51194	0.21212713	0.45670	0.28152493	0.51194	0.21212713	0.45669	-5.828	0.44818	T	.	.	0.190	0.40858	B	.	.	3.748574	0.53721	23.4	0.99906450630146304	0.97726	0.96494	0.69419	D	AEFBI	0.777960	0.71061	D	0.193299339228628	0.50876	3.273649	0.3409681816546	0.57965	3.964535	0.999999999999009	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.7	5.7	0.88690	6.098000	0.71106	11.887000	0.98989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	19.841	0.96682	422	0.81333	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1059.33	33	chr1	185965867	.	G	A	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.685;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=1.92;SOR=0.754	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1073,0,1742	18	0	1	0
chr1	186038858	186038858	C	T	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon38:c.C5881T:p.L1961F	.	.	.	.	.	.	.	.	.	.	.	862988	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.407	0.0302201344096	0.0009	.	0.0007	0	0.0002	0.0001	0	0.0012	0.0011	6.059e-05	0.0006339	98	154602	rs140559544	0.0005	0.0005	0.0005	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	0.0001	0.0003	0.0158	0	0	0.0024	0.0001	0.0014	4.649e-05	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	9.049e-05	7.013e-05	0	0	0.0001	0.0144	0	0	0	0.0002	0.0009	0	0.008	0.58626	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.495	0.72670	M	-0.65	0.72237	T	-2.54	0.55025	D	0.719	0.72120	-0.0527	0.81149	T	0.481	0.80154	T	10	0.039586127	0.02459	T	0.03022	0.52574	D	0.407	0.71946	.	.	0.827018898375	0.82538	0.5282940638055543	0.52753	0.476195336996	0.46760	0.389401644468	0.23586	T	.	.	.	-0.140375	0.29830	T	-0.139091	0.60197	T	0.0910521129283513	0.11342	T	0.754325	0.37688	T	0.30536538	0.53381	0.20863546	0.45173	0.30536538	0.53381	0.20863546	0.45172	-7.893	0.60339	D	.	.	0.127	0.26917	B	.	.	4.733566	0.76271	26.5	0.99772224120767294	0.86003	0.96027	0.67203	D	AEFI	0.431439	0.49373	N	0.320600815243593	0.57207	3.887197	0.207528189544349	0.50264	3.220345	0.551711469233484	0.21339	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	6.06	5.15	0.70287	5.324000	0.65643	4.016000	0.41206	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.020000	0.11549	0.0:0.9314:0.0:0.0686	14.982	0.70970	406	0.82375	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	624.33	33	chr1	186038858	.	C	T	624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=670;ExcessHet=0;FS=2.156;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=1.1;SOR=1.006	GT:AD:DP:GQ:PL	0/1:41,27:68:99:638,0,1016	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	0/1:78,75:153:99:2118,0,1911	16	0	3	0
chr1	200649159	200649159	C	T	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon3:c.G1040A:p.S347N,DDX59:NM_001349803:exon5:c.G1130A:p.S377N,DDX59:NM_001031725:exon6:c.G1382A:p.S461N,DDX59:NM_001320181:exon6:c.G1382A:p.S461N,DDX59:NM_001349799:exon6:c.G1382A:p.S461N,DDX59:NM_001349800:exon6:c.G1382A:p.S461N,DDX59:NM_001349801:exon6:c.G1382A:p.S461N,DDX59:NM_001349802:exon6:c.G1382A:p.S461N	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.132082424001	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419515113	6.917e-07	6.84e-07	1.377e-06	0	1.204e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.204e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53900	D	0.028	0.60337	D	0.97	0.56973	D	0.68	0.53472	P	0.000000	0.84330	D	0.037884	0.999998	0.58761	D	0.92	0.23413	L	-3.08	0.92560	D	-2.39	0.55821	N	0.591	0.61087	0.499	0.90530	D	0.766	0.92033	D	10	0.65099525	0.69602	D	0.132082	0.81438	D	0.267	0.58126	0.382	0.39970	0.986530203635	0.98638	0.5183405391189232	0.51757	0.572545265595	0.53344	0.550546705723	0.45934	T	0.188453	0.81946	T	0.128234	0.67189	D	-0.0535777	0.66777	D	0.931570708751678	0.59703	D	0.948205	0.79983	D	0.48407817	0.66147	0.39009592	0.63813	0.48407817	0.66148	0.39009592	0.63813	-12.297	0.90208	D	0.4536007456487072	0.53700	0.476	0.64988	A	.;.;.;.	.;.;.;.	4.053062	0.60094	24.2	0.99551138415059581	0.71148	0.98540	0.83876	D	AEFBI	0.885853	0.81673	D	0.642865897320539	0.75908	6.389825	0.704319273756955	0.82707	7.834133	0.999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	6.007000	0.70391	7.646000	0.63445	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:1.0:0.0:0.0	20.631	0.99528	630	0.65016	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	42	chr1	200649159	.	C	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.074;DP=876;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.021;SOR=0.53	GT:AD:DP:GQ:PL	0/1:34,43:77:99:850,0,776	18	0	1	0
chr1	200649205	200649205	G	C	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon3:c.C994G:p.P332A,DDX59:NM_001349803:exon5:c.C1084G:p.P362A,DDX59:NM_001031725:exon6:c.C1336G:p.P446A,DDX59:NM_001320181:exon6:c.C1336G:p.P446A,DDX59:NM_001349799:exon6:c.C1336G:p.P446A,DDX59:NM_001349800:exon6:c.C1336G:p.P446A,DDX59:NM_001349801:exon6:c.C1336G:p.P446A,DDX59:NM_001349802:exon6:c.C1336G:p.P446A	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0687687620722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.007	0.92824	D	0.998	0.73220	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-3.02	0.92258	D	-5.95	0.94249	D	0.713	0.74918	-0.5328	0.67435	T	0.368	0.72803	T	10	0.7884146	0.78447	D	0.068769	0.70544	D	0.558	0.81831	0.447	0.50629	0.970266424776	0.96994	0.4374284405407907	0.43659	0.682462068016	0.60108	0.681629002094	0.64502	T	0.325391	0.82668	T	0.398816	0.89846	D	0.335095	0.89719	D	0.988077640533447	0.78458	D	0.941806	0.78595	D	0.47921202	0.65852	0.55515283	0.74271	0.47921202	0.65853	0.55515283	0.74272	-12.868	0.88812	D	0.6867761441449579	0.76393	0.421	0.66497	A	.;.;.;.	.;.;.;.	4.597363	0.72782	25.9	0.99552237478956063	0.71211	0.99351	0.94882	D	AEFBI	0.864370	0.78315	D	0.585220718771123	0.72251	5.776499	0.687219132222809	0.81409	7.519602	0.999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	9.900000	0.98620	11.796000	0.96513	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.631	0.99528	630	0.65016	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	564.33	42	chr1	200649205	.	G	C	564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.523;DP=821;ExcessHet=0;FS=1.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-4.164;SOR=1.017	GT:AD:DP:GQ:PL	0/1:24,23:47:99:578,0,576	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|1:98,17:115:57:0|1:204444146_C_T:57,0,3353:204444146	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	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	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	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	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,17:115:57:0|1:204444146_C_T:57,0,3353:204444146	9	0	10	0
chr1	209650080	209650080	G	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon2:c.C67T:p.R23C,LAMB3:NM_000228:exon3:c.C67T:p.R23C,LAMB3:NM_001127641:exon3:c.C67T:p.R23C	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	280158	not_provided|Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa_gravis_of_Herlitz	MedGen:C3661900|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.288	0.255030621124	0.0004	0.000399361	0.0007	0.0001	0.0033	0	0	0.0006	0.0047	0.0006	0.0006404	99	154602	rs115191959	0.0005	0.0005	0.0004	0.0005	0.0057	0.0004	0.0004	0.0042	0.0037	5.974e-05	0.0018	0.0003	0	1.873e-05	0.0057	0.0004	0.0006	0.0006	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0012	0.0010	0.0001	0	0.0017	0.0006	0.0002	0	0	0.0004	0.0014	0.0002	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.72	0.54860	P	0.000498	0.43931	D	0.196022	1	0.81001	D	2.785	0.81254	M	1.16	0.77843	T	-4.31	0.78222	D	0.514	0.54496	0.190	0.85744	D	0.549	0.83465	D	10	0.028091729	0.00945	T	0.255031	0.89275	D	0.288	0.60691	.	.	0.900147024139	0.89915	0.49015242965252953	0.48935	0.484872331888	0.47389	0.542570114136	0.44809	T	0.440994	0.78570	T	-0.0952745	0.37207	T	0.0771382	0.75386	D	0.073548336461529	0.09141	T	0.892111	0.85970	D	0.2873365	0.51745	0.29809177	0.55842	0.2873365	0.51745	0.29809177	0.55841	-10.966	0.79472	D	.	.	0.202	0.44872	B	.;.;.;.	.;.;.;.	5.170130	0.86660	29.0	0.99936329698259074	0.99621	0.72988	0.35709	D	AEFGBHCI	0.690111	0.65055	D	0.635214722858458	0.75413	6.301786	0.632204940182919	0.77289	6.651197	0.999999999999888	0.74766	0.538715	0.22204	0	0.588066	0.40923	0	0.602189	0.34648	0	0.563494	0.21769	0	.	.	5.39	5.39	0.77615	3.553000	0.53459	7.432000	0.58801	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.006	0.89132	943	0.12886	Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	1039.33	44	chr1	209650080	.	G	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.8;SOR=0.655	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1053,0,965	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|1:102,16:118:55:0|1:212100360_A_G:55,0,3846:212100360	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|1:102,16:118:55:0|1:212100360_A_G:55,0,3846:212100360	10	0	8	1
chr1	213129822	213129822	A	C	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon5:c.A732C:p.E244D,RPS6KC1:NM_001287221:exon5:c.A225C:p.E75D,RPS6KC1:NM_001349646:exon6:c.A768C:p.E256D,RPS6KC1:NM_012424:exon6:c.A768C:p.E256D,RPS6KC1:NM_001287218:exon7:c.A225C:p.E75D,RPS6KC1:NM_001287219:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349648:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349649:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349653:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349650:exon8:c.A225C:p.E75D,RPS6KC1:NM_001349652:exon8:c.A225C:p.E75D,RPS6KC1:NM_001349654:exon8:c.A225C:p.E75D,RPS6KC1:NM_001349651:exon9:c.A225C:p.E75D	.	429	1092	1	0	0	1	0.000457666	.	.	.	1636662	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0972399132145	.	0.000798722	0.0006	0.0002	0.0030	0.0007	0.0002	0.0004	0.0011	0.0004	0.0005627	87	154602	rs150727119	0.0003	0.0003	0.0004	0.0003	0.0023	0.0003	0.0003	0.0020	0.0018	0.0003	0.0023	0	0.0002	0.0003	0.0002	0.0003	0.0003	0.0004	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0004	0.0003	0.0005	0	0.0007	0	0.0004	9.414e-05	0	0.0002	0.0005	0.0006	0.013	0.53900	D	0.154	0.34241	T	0.951	0.90584	P	0.759	0.92359	P	0.000064	0.52346	D	0.164203	0.999974	0.81001	D	2.545	0.74286	M	-0.6	0.71662	T	-0.99	0.35991	N	0.343	0.40765	-0.2123	0.77353	T	0.455	0.78778	T	10	0.013160735	0.00280	T	0.09724	0.76739	D	0.292	0.61157	0.395	0.42099	0.796922635108	0.79503	0.23315004453690255	0.23230	0.388317512424	0.40095	0.493511229753	0.37926	T	0.017502	0.14269	T	-0.322885	0.06664	T	-0.241505	0.50653	T	0.0503519921522445	0.05562	T	0.747925	0.39623	T	0.15961972	0.35847	0.100627795	0.24066	0.15961972	0.35847	0.100627795	0.24066	-8.206	0.62539	D	.	.	0.119	0.42806	B	.;.;.;.;.	.;.;.;.;.	2.400187	0.30838	18.56	0.99786924014902789	0.87308	0.78313	0.38618	D	AEFBI	0.205917	0.33223	N	0.452539409448095	0.64347	4.687156	0.411274268891286	0.62267	4.43918	0.978728716367079	0.29952	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.54	4.21	0.48984	0.245000	0.17917	1.457000	0.26651	0.691000	0.84096	0.979000	0.35152	0.999000	0.35428	0.875000	0.41745	0.7638:0.0:0.2362:0.0	7.330	0.25749	819	0.41190	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	699.33	33	chr1	213129822	.	A	C	699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.424;DP=688;ExcessHet=0;FS=5.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=2.78;SOR=1.22	GT:AD:DP:GQ:PL	0/1:30,32:62:99:713,0,829	18	0	1	0
chr1	214629136	214629136	C	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon8:c.C1159G:p.Q387E	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1209088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0922487292926	.	.	0.0004	0	0.0005	0	0	0.0006	0.0044	0	0.0003169	49	154602	rs202217426	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0006	0.0004	0	0.0005	0.0002	0	0	0.0012	0.0003	0.0004	1.182e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	0.0003	0	0	0	0	0.0004	0	0	0.132	0.26519	T	0.293	0.20811	T	0.899	0.49514	P	0.445	0.45921	B	0.005303	0.32910	N	0.000000	0.991241	0.41342	D	.	.	.	-0.98	0.75789	T	-1.62	0.38924	N	0.436	0.47487	-0.5655	0.66193	T	0.316	0.68540	T	9	0.1676682	0.31274	T	0.092249	0.75857	D	0.211	0.50185	.	.	0.770671146095	0.76857	0.06654154212946409	0.06592	0.352143244232	0.37051	0.417834877968	0.27539	T	0.020472	0.16112	T	-0.256756	0.13283	T	-0.26165	0.48660	T	0.231554344296455	0.22025	T	0.691431	0.30091	T	0.20290327	0.42350	0.18453617	0.41512	0.20290327	0.42350	0.18453617	0.41511	-3.028	0.10486	T	.	.	0.113	0.22171	B	.	.	3.401345	0.47136	22.4	0.99287404925641465	0.58149	0.93842	0.59349	D	AEFBI	0.445440	0.50191	N	0.401635726708322	0.61512	4.353361	0.473233865423708	0.66220	4.924035	0.999996099076368	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	3.642000	0.54101	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8622:0.1378:0.0	15.607	0.76429	885	0.28214	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	256.33	33	chr1	214629136	.	C	G	256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.889;DP=645;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-1.88;SOR=0.704	GT:AD:DP:GQ:PL	0/1:22,13:35:99:270,0,607	18	0	1	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.02632	1414.33	33	chr1	215671031	.	C	T	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1428,0,1605	18	0	1	0
chr1	219609841	219609841	G	A	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.C2222T:p.P741L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227394738	3.831e-05	5.267e-05	3.404e-05	4.264e-05	0.0010	3.026e-05	2.72e-05	0.0008	0.0007	0	4.473e-05	0	0.0010	0	0	6.296e-06	8.282e-05	1.159e-05	9.841e-05	0.0001	0.0001	6.708e-05	0.0025	5.998e-05	4.873e-05	0.0015	0.0012	0	0	6.531e-05	0	0.0025	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	.	.	.	.	.	.	.	.	0.05263	4530.83	33	chr1	219609841	.	G	A	4530.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.88;DP=2571;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=48.27;MQRankSum=4.13;QD=4.09;ReadPosRankSum=1.65;SOR=0.691	GT:AD:DP:GQ:PL	0/1:437,149:586:99:2736,0,10454	17	0	2	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	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	.	.	.	.	.	.	.	.	0.1471	131.11	54	chr1	220074013	.	G	A	131.11	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-3.058;DP=1660;ExcessHet=1.3;FS=292.203;InbreedingCoeff=-0.1978;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.63;SOR=11.716	GT:AD:DP:GQ:PL	0/1:59,26:85:44:44,0,793	12	0	5	2
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	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	.	.	.	.	.	.	.	.	0.125	371.5	33	chr1	225514708	.	G	A	371.5	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-2.545;DP=1500;ExcessHet=0.3672;FS=220.131;InbreedingCoeff=-0.243;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=-0.256;SOR=11.083	GT:AD:DP:GQ:PL	0/1:54,24:78:79:79,0,874	9	0	3	7
chr1	226388745	226388745	C	T	exonic	PARP1	.	nonsynonymous SNV	PARP1:NM_001618:exon5:c.G628A:p.G210S	.	0	1520	2	0	0	2	0.000657462	.	.	.	4002053	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00586786253335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs946326508	4.79e-06	6.156e-06	2.724e-06	6.877e-06	7.557e-05	1.99e-06	1.28e-06	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	6.625e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.527	0.10209	T	0.019	0.17989	B	0.009	0.14300	B	0.001600	0.38554	N	0.279795	0.990006	0.41067	D	2.24	0.63355	M	1.57	0.29342	T	-1.01	0.26639	N	0.167	0.17691	-1.0788	0.07582	T	0.077	0.30951	T	10	0.12013969	0.22750	T	0.005868	0.15281	T	0.029	0.06676	0.18	0.08751	0.678578911575	0.67584	0.21535744110823998	0.21451	0.219231293744	0.24462	0.399352431297	0.24978	T	0.081	0.36448	T	-0.310916	0.07669	T	-0.515257	0.20776	T	0.4777951836586	0.31817	T	0.787421	0.42665	T	0.11599863	0.27365	0.08035472	0.18171	0.11599863	0.27365	0.08035472	0.18170	-2.562	0.06220	T	.	.	0.097	0.15788	B	.	.	2.411880	0.30999	18.61	0.99433499348368193	0.64374	0.80751	0.40309	D	AEFDBI	0.184399	0.31172	N	-0.157162795680301	0.34930	2.000065	-0.0193655393607283	0.38841	2.294186	0.999975953222712	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	4.41	0.52588	1.950000	0.39948	2.187000	0.31177	0.599000	0.40250	0.940000	0.32642	0.999000	0.35428	0.976000	0.56436	0.1468:0.8532:0.0:0.0	14.583	0.67899	527	0.73864	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1336.33	35	chr1	226388745	.	C	T	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.033;DP=817;ExcessHet=0;FS=2.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.879;SOR=0.954	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1350,0,1418	18	0	1	0
chr1	230671630	230671630	G	A	exonic	COG2	.	nonsynonymous SNV	COG2:NM_001145036:exon8:c.G889A:p.A297T,COG2:NM_007357:exon8:c.G889A:p.A297T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0122313911702	.	.	2.474e-05	0	8.652e-05	0	0	3e-05	0	0	1.94e-05	3	154602	rs752216823	8.212e-06	8.209e-06	9.533e-06	6.878e-06	0.0002	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	2.239e-05	0	2.52e-05	0	0.0002	5.397e-06	1.657e-05	2.32e-05	2.63e-05	2.627e-05	3.856e-05	1.346e-05	0.0002	8.15e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.548e-05	0	0.0002	0	0	2.941e-05	0	0	0.17	0.22833	T	0.364	0.16766	T	0.007	0.14184	B	0.007	0.12992	B	0.000050	0.53742	D	0.162249	0.982011	0.39842	D	2.08	0.57402	M	1.55	0.29866	T	-0.31	0.17210	N	0.252	0.29313	-1.0936	0.04959	T	0.053	0.22655	T	10	0.10485911	0.19354	T	0.012231	0.30616	T	0.040	0.10527	0.236	0.16608	0.202949470691	0.19918	0.45790773148014136	0.45708	0.141679753967	0.15969	0.386036038399	0.23110	T	0.102199	0.40969	T	-0.319289	0.06955	T	-0.514885	0.20814	T	0.246834933757782	0.22731	T	0.868613	0.57103	D	0.042716745	0.06530	0.06389324	0.12723	0.048889276	0.08592	0.056918267	0.10254	-3.375	0.14722	T	.	.	0.069	0.04356	B	.;.;.	.;.;.	2.131991	0.27144	17.36	0.98768764066475701	0.45940	0.91544	0.53752	D	AEFBI	0.091456	0.18525	N	-0.261929384538163	0.30629	1.709689	-0.119787246812865	0.34593	1.991613	0.129551943662303	0.17062	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.11	4.18	0.48473	3.078000	0.49794	5.109000	0.47498	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.300000	0.24500	0.1512:0.0:0.8488:0.0	10.437	0.43629	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	.	.	.	.	.	.	.	.	0.02632	513.33	33	chr1	230671630	.	G	A	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=654;ExcessHet=0;FS=3.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.755;SOR=0.458	GT:AD:DP:GQ:PL	0/1:11,21:32:99:527,0,263	18	0	1	0
chr1	230678952	230678952	C	T	exonic	COG2	.	nonsynonymous SNV	COG2:NM_001145036:exon10:c.C1066T:p.R356W,COG2:NM_007357:exon10:c.C1066T:p.R356W	.	431	1085	6	0	0	6	0.00275735	.	.	.	794606	not_specified|not_provided|Congenital_disorder_of_glycosylation,_type_IIq	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054559,MedGen:C4479353,OMIM:617395,Orphanet:435934	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0385122524623	7.7e-05	.	4.956e-05	0	0	0	0	9.014e-05	0	0	4.53e-05	7	154602	rs200705175	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	5.978e-05	0.0001	0	7.564e-05	1.873e-05	0.0003	0.0001	0.0002	5.802e-05	6.575e-05	6.568e-05	5.141e-05	8.076e-05	8.821e-05	3.518e-05	2.618e-05	3.762e-05	2.575e-05	7.243e-05	0	6.546e-05	0	0	0	0	8.821e-05	0	0	0.011	0.58626	D	0.082	0.45318	T	0.975	0.58077	D	0.386	0.44011	B	0.028839	0.25543	N	0.429971	0.998428	0.44899	D	2.77	0.80896	M	3.52	0.04905	T	-3.81	0.71882	D	0.612	0.62950	-0.6686	0.61892	T	0.181	0.52767	T	10	0.5218507	0.62688	D	0.038512	0.58269	D	0.213	0.50496	.	.	0.336892272479	0.33291	0.5122040009096595	0.51142	0.43872957691	0.43897	0.35747730732	0.19017	T	0.495744	0.81833	T	-0.262869	0.12567	T	-0.360324	0.38016	T	0.652112305164337	0.38552	D	0.940206	0.77406	D	0.13691837	0.31723	0.14632757	0.34670	0.13691837	0.31723	0.14632757	0.34669	-6.868	0.53063	T	0.4917912686882258	0.56855	0.088	0.15520	B	.;.;.	.;.;.	4.148323	0.62211	24.4	0.99868102475979881	0.94637	0.89017	0.49236	D	AEFBI	0.486604	0.52570	N	0.300363824959683	0.56167	3.781131	0.259958012969278	0.53217	3.491826	0.33508970711538	0.19525	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	3.06	0.34374	1.826000	0.38730	2.329000	0.32183	0.599000	0.40250	1.000000	0.71638	0.454000	0.24968	0.985000	0.61073	0.1142:0.6294:0.2564:0.0	12.749	0.56672	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	.	.	.	.	.	.	.	.	0.02632	618.33	33	chr1	230678952	.	C	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=698;ExcessHet=0;FS=2.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.56;SOR=0.46	GT:AD:DP:GQ:PL	0/1:28,30:58:99:632,0,606	18	0	1	0
chr1	232807020	232807020	A	G	exonic	MAP10	.	nonsynonymous SNV	MAP10:NM_019090:exon1:c.A1571G:p.Y524C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.014110733292	.	.	4.36e-05	0	0.0004	0	0	0	0	6.377e-05	3.23e-05	5	154602	rs770002922	2.054e-05	2.052e-05	1.907e-05	2.202e-05	0.0009	1.457e-05	1.264e-05	0.0003	0.0002	0	0.0002	0	0	0	0.0009	8.097e-06	6.629e-05	5.815e-05	7.879e-05	7.874e-05	1.285e-05	0.0001	0.0019	4.493e-05	3.51e-05	0.0010	0.0007	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0019	0.006	0.61437	D	0.01	0.65728	D	.	.	.	.	.	.	0.003012	0.35573	U	0.000000	0.834239	0.34965	D	.	.	.	.	.	.	-5.14	0.83292	D	0.349	0.39052	-0.5200	0.67914	T	0.248	0.61774	T	9	0.17531982	0.32457	T	0.014111	0.34004	T	0.095	0.27398	.	.	0.212008924253	0.20833	0.1645376831000185	0.16373	0.630942795977	0.57066	0.446366250515	0.31448	T	.	.	.	-0.228883	0.16797	T	-0.273064	0.47510	T	0.441615104675293	0.30489	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38764	B	.	.	2.312377	0.29604	18.17	0.99717065250837167	0.81773	0.43852	0.27189	N	AEFBCI	0.163588	0.28989	N	0.237721366388579	0.53034	3.474317	0.132953316568795	0.46245	2.873637	0.999798152119126	0.43153	0.608746	0.35421	0	0.627608	0.54475	0	0.536957	0.11973	0	0.605231	0.38476	0	.	.	6.08	3.61	0.40494	1.217000	0.32059	1.749000	0.28460	0.691000	0.84096	0.450000	0.26566	0.079000	0.22353	0.433000	0.27516	0.6675:0.1267:0.0687:0.1372	3.965	0.08920	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1468.33	35	chr1	232807020	.	A	G	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.81;DP=803;ExcessHet=0;FS=2.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.055;SOR=1.034	GT:AD:DP:GQ:PL	0/1:37,56:93:99:1482,0,883	18	0	1	0
chr1	241860580	241860580	G	A	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon7:c.G820A:p.G274R,EXO1:NM_006027:exon7:c.G820A:p.G274R,EXO1:NM_001319224:exon8:c.G820A:p.G274R,EXO1:NM_130398:exon9:c.G820A:p.G274R	.	425	1092	5	0	0	5	0.00228415	.	.	.	969893	not_provided|Hereditary_breast_ovarian_cancer_syndrome|EXO1-related_disorder	MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.541	0.0598680279414	0.0027	0.000998403	0.0021	0.0009	0.0043	0	0.0005	0.0027	0.0033	0.0002	0.002044	316	154602	rs149397534	0.0024	0.0024	0.0025	0.0023	0.0031	0.0024	0.0023	0.0028	0.0027	0.0008	0.0031	0.0008	0	0.0006	0.0021	0.0029	0.0021	0.0003	0.0019	0.0019	0.0018	0.0019	0.0032	0.0017	0.0016	0.0028	0.0027	0.0005	0	0.0023	0.0006	0	0.0002	0.0171	0.0032	0.0005	0	0.005	0.65419	D	0.018	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.34	0.33385	L	1.51	0.30937	T	-4.87	0.81269	D	0.89	0.89242	-0.9961	0.31001	T	0.154	0.48412	T	10	0.03733033	0.02081	T	0.059868	0.67808	D	0.541	0.80842	0.525	0.62967	0.685419224124	0.68273	0.9532576662729161	0.95309	0.35416259056	0.37199	0.673514485359	0.63339	T	0.486252	0.81282	T	-0.0707252	0.41212	T	0.122267	0.78385	D	0.0455111430794867	0.04695	T	0.922108	0.72088	D	0.8968603	0.91105	0.69633454	0.82119	0.8968603	0.91106	0.69633454	0.82120	-12.404	0.86951	D	.	.	0.793	0.77130	P	.;.;.	.;.;.	5.636445	0.92712	32	0.99938643120357384	0.99698	0.97527	0.75331	D	AEFBCI	0.922560	0.89772	D	0.790130568864765	0.85484	8.589749	0.814329743564782	0.90771	10.56142	0.999999999999944	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	10.003000	0.99689	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.312	0.94184	934	0.15400	Exonuclease-1, H3TH domain;Exonuclease-1, H3TH 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	0.002518	0.005051	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1654.33	33	chr1	241860580	.	G	A	1654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.045;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.294;SOR=0.721	GT:AD:DP:GQ:PL	0/1:60,71:131:99:1668,0,1349	18	0	1	0
chr1	244552728	244552728	A	G	exonic	CATSPERE	.	nonsynonymous SNV	CATSPERE:NM_001242340:exon6:c.A490G:p.R164G,CATSPERE:NM_001130957:exon9:c.A943G:p.R315G,CATSPERE:NM_173807:exon9:c.A943G:p.R315G	.	443	1074	5	0	0	5	0.00232234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.010431141341	0.0002	0.000399361	0.0001	0	0	0	0	5.995e-05	0	0.0005	9.7e-05	15	154602	rs375228084	8.346e-05	8.345e-05	6.398e-05	0.0001	0.0026	7.137e-05	6.685e-05	0.0016	0.0013	5.975e-05	4.475e-05	0	2.521e-05	0	0.0026	3.957e-05	0.0002	0.0005	8.533e-05	8.53e-05	8.992e-05	8.053e-05	0.0010	4.952e-05	3.959e-05	0.0004	0.0003	2.404e-05	0	6.539e-05	0.0003	0	0	0	7.349e-05	0	0.0010	0.044	0.44029	D	0.096	0.61642	T	0.152	0.31898	B	0.023	0.25995	B	0.911384	0.08550	N	0.957902	1	0.08975	N	.	.	.	1.48	0.31731	T	-2.85	0.62343	D	0.161	0.20262	-1.0491	0.14649	T	0.056	0.23527	T	10	0.033823967	0.01570	T	0.010431	0.26958	T	0.080	0.23350	.	.	0.0716867268079	0.06686	0.5742256416496454	0.57351	0.207902682033	0.23254	.	.	.	0.020072	0.15869	T	-0.411707	0.01936	T	-0.513009	0.21006	T	0.0497399414557155	0.05455	T	0.473853	0.14122	T	0.1473802	0.33694	0.18438041	0.41486	0.1473802	0.33694	0.18438041	0.41485	-5.466	0.45960	T	.	.	0.193	0.42906	B	.;.;.;.	.;.;.;.	2.236136	0.28549	17.83	0.98041769025674552	0.37797	0.04955	0.10718	N	AEGHCI	0.153912	0.27884	N	-0.564168329260186	0.20042	1.053592	-0.578990351802756	0.20041	1.077999	0.476803735643561	0.20752	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.47	3.08	0.34576	1.427000	0.34489	3.212000	0.36806	0.756000	0.94297	0.007000	0.17678	0.027000	0.21108	0.003000	0.05239	0.6479:0.1798:0.0:0.1723	5.422	0.15706	817	0.41665	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	987.33	33	chr1	244552728	.	A	G	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=698;ExcessHet=0;FS=3.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.072;SOR=1.265	GT:AD:DP:GQ:PL	0/1:34,35:69:99:1001,0,880	18	0	1	0
chr2	10443519	10443519	A	G	exonic	ODC1	.	nonsynonymous SNV	ODC1:NM_001287188:exon7:c.T250C:p.S84P,ODC1:NM_001287189:exon7:c.T637C:p.S213P,ODC1:NM_001287190:exon7:c.T637C:p.S213P,ODC1:NM_002539:exon7:c.T637C:p.S213P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0195401558443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.16	0.31427	T	0.001	0.07471	B	0.024	0.20255	B	0.000004	0.62929	D	0.108661	0.999997	0.58761	D	2.675	0.78361	M	0.91	0.44856	T	-2.21	0.49684	N	0.775	0.77319	-0.8356	0.52937	T	0.150	0.47663	T	10	0.7526268	0.75749	D	0.01954	0.41929	T	0.281	0.59861	0.58	0.70604	0.789379188279	0.78742	0.9082777495364464	0.90800	0.549821909357	0.51865	0.630944252014	0.57280	T	0.577277	0.86102	D	0.101311	0.64434	D	-0.0922501	0.63992	T	0.920823574066162	0.58018	D	0.940106	0.77361	D	0.8022427	0.84049	0.68194973	0.81307	0.8022427	0.84051	0.68194973	0.81308	-13.086	0.89714	D	.	.	0.933	0.85246	P	.;.	.;.	3.208303	0.43659	21.8	0.99198885158978689	0.55201	0.92226	0.55227	D	AEFDBCI	0.718193	0.66947	D	-0.155850597871292	0.34985	2.003899	-0.0539423602346286	0.37319	2.183541	0.999993423629379	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.79	3.27	0.36580	2.518000	0.45198	2.800000	0.34847	-0.067000	0.16409	0.997000	0.40164	1.000000	0.68203	0.988000	0.63387	0.7497:0.0:0.0:0.2503	10.901	0.46261	968	0.07033	Orn/DAP/Arg decarboxylase 2, C-terminal|Orn/DAP/Arg decarboxylase 2, N-terminal;Orn/DAP/Arg decarboxylase 2, C-terminal|Orn/DAP/Arg decarboxylase 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	1205.33	35	chr2	10443519	.	A	G	1205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.404;SOR=0.746	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1219,0,1125	18	0	1	0
chr2	17515949	17515949	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2467A:p.E823K,RAD51AP2:NM_001321233:exon5:c.G2440A:p.E814K	.	465	1032	19	6	0	31	0.0147971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0163909089931	0.0005	0.00139776	0.0013	0.0001	0.0003	0.0001	0	0.0007	0.0022	0.0061	0.0011966	185	154602	rs200839059	0.0007	0.0007	0.0006	0.0009	0.0115	0.0007	0.0007	0.0093	0.0085	0.0003	0.0006	3.872e-05	2.523e-05	3.749e-05	0.0115	0.0004	0.0014	0.0055	0.0006	0.0006	0.0006	0.0006	0.0056	0.0005	0.0004	0.0039	0.0034	4.816e-05	0.0055	0.0003	0	0	0	0.0102	0.0007	0.0009	0.0056	0.104	0.29959	T	0.228	0.25286	T	0.291	0.32334	B	0.104	0.31021	B	.	.	.	.	0.994703	0.23461	N	1.495	0.37439	L	1.56	0.29602	T	-3.0	0.62343	D	0.121	0.11197	-1.0343	0.19078	T	0.043	0.18618	T	9	0.0035848916	0.00065	T	0.016391	0.37623	T	0.023	0.04649	.	.	0.0762999501168	0.06990	0.12502909475306234	0.12428	0.193676693531	0.21702	0.312975645065	0.12357	T	0.056045	0.30176	T	-0.584674	0.00180	T	-0.610286	0.11962	T	0.0282026903138227	0.01718	T	0.545245	0.18642	T	0.118087195	0.27828	0.15146059	0.35677	0.118087195	0.27827	0.15146059	0.35676	-3.821	0.21119	T	.	.	0.089	0.12084	B	.	.	1.086664	0.14700	11.25	0.96544589751197807	0.30200	0.16082	0.19222	N	AEFDGBI	0.051531	0.09114	N	-0.990126314634138	0.08813	0.414711	-1.00766644292951	0.09616	0.4794292	0.870676253259279	0.25410	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	1.45	0.21708	0.091000	0.14885	0.265000	0.16590	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.7055:0.0:0.2945	9.610	0.38821	768	0.49510	.	.	.	.	.	.	Likely benign	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	0.007560	0.000000	0.008152	0.008772	0.000000	0.008621	0.006135	0.015152	0.02632	1391.33	36	chr2	17515949	.	C	T	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=1480;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.817;SOR=0.711	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1405,0,1700	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	0/1:39,20:59:85:.:.:85,0,418:.	2	0	17	0
chr2	24826067	24826067	C	G	exonic	ADCY3	.	nonsynonymous SNV	ADCY3:NM_001377131:exon15:c.G1832C:p.S611T,ADCY3:NM_001320613:exon16:c.G2558C:p.S853T,ADCY3:NM_001377129:exon16:c.G2417C:p.S806T,ADCY3:NM_001377132:exon16:c.G2555C:p.S852T,ADCY3:NM_004036:exon16:c.G2555C:p.S852T,ADCY3:NM_001377128:exon17:c.G2621C:p.S874T	.	402	1116	4	0	0	4	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0180973822754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.53172	T	0.044	0.49942	D	0.032	0.20242	B	0.035	0.22741	B	0.000000	0.84330	D	0.078353	0.999136	0.46149	D	-0.505	0.02602	N	-0.58	0.71425	T	-1.61	0.40468	N	0.691	0.69649	-0.6950	0.60675	T	0.279	0.65129	T	10	0.42118812	0.56874	T	0.018097	0.40048	T	0.222	0.51872	0.519	0.62066	0.703799379039	0.70122	0.8099014591595323	0.80945	0.885137563501	0.69946	0.676082968712	0.63707	T	0.41301	0.76700	T	0.0271718	0.55347	T	-0.198746	0.54765	T	0.902372598648071	0.55532	D	0.853215	0.64209	D	0.34144464	0.56394	0.27805787	0.53763	0.34144464	0.56394	0.27805787	0.53762	-3.015	0.10343	T	.	.	0.333	0.55438	B	.;.;.;.	.;.;.;.	3.635749	0.51521	23.1	0.98689358546982497	0.44738	0.95864	0.66482	D	AEFDGBHCI	0.867229	0.78692	D	0.0245579346529761	0.42973	2.599535	0.195179002304281	0.49581	3.159682	1.0	0.98316	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.635259	0.50027	0	.	.	5.3	5.3	0.74745	5.733000	0.68216	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	17.789	0.88456	356	0.85138	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1120.33	44	chr2	24826067	.	C	G	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=855;ExcessHet=0;FS=5.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.056;SOR=1.261	GT:AD:DP:GQ:PL	0/1:71,46:117:99:1134,0,1848	18	0	1	0
chr2	27581983	27581983	G	A	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.G5411A:p.R1804K	.	438	1052	31	1	0	33	0.0154422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0039106321571	0.0014	0.00119808	0.0023	0.0002	0.0025	0	0	0.0029	0.0044	0.0028	0.0020375	315	154602	rs190786540	0.0017	0.0017	0.0016	0.0019	0.0288	0.0017	0.0017	0.0252	0.0238	0.0006	0.0029	0.0217	0	0	0.0288	0.0010	0.0043	0.0031	0.0019	0.0019	0.0020	0.0019	0.0050	0.0017	0.0017	0.0041	0.0037	0.0005	0	0.0050	0.0211	0	0	0.0278	0.0015	0.0033	0.0019	0.136	0.26085	T	0.136	0.34009	T	0.79	0.44599	P	0.363	0.43280	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.44	0.05375	T	0.07	0.06138	N	0.114	0.10198	-0.9607	0.39050	T	0.007	0.02558	T	9	0.0032745302	0.00056	T	0.003911	0.09211	T	0.016	0.02506	.	.	0.167679373172	0.16340	0.03202349404580406	0.03150	0.0864687688196	0.09759	.	.	.	0.006067	0.05507	T	-0.648721	0.00074	T	-0.707984	0.05401	T	0.00583508350822592	0.00064	T	0.408659	0.10706	T	0.048825834	0.08572	0.04649033	0.06491	0.048825834	0.08572	0.04649033	0.06491	-5.335	0.40288	T	.	.	0.114	0.22969	B	.;.	.;.	0.519976	0.08890	5.667	0.84813933446720435	0.15513	0.08703	0.14594	N	AEFBCI	.	.	.	-0.781104883977863	0.13802	0.682645	-0.924420358024815	0.11519	0.5872883	0.999593790969724	0.40745	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.664235	0.64389	0	.	.	3.71	-0.286	0.12226	-0.375000	0.07532	-3.958000	0.02427	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4043:0.0:0.4212:0.1746	3.476	0.07150	65	0.97253	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.020202	0.020380	0.049708	0.000000	0.017241	0.009146	0.011364	0.02632	4550.33	36	chr2	27581983	.	G	A	4550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.588;DP=1100;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-0.027;QD=12.27;ReadPosRankSum=-0.597;SOR=0.773	GT:AD:DP:GQ:PL	0/1:189,182:371:99:4564,0,4902	18	0	1	0
chr2	31349801	31349801	C	T	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon26:c.G2854A:p.D952N	Xanthinuria, type I, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0194339473427	.	.	3.295e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs779432733	1.642e-05	1.642e-05	9.528e-06	2.338e-05	0.0003	1.111e-05	9.33e-06	7.998e-05	6.236e-05	0	0	0	0	0	0.0003	8.093e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.077	0.42436	T	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.088505	1	0.81001	D	1.4	0.35362	L	1.08	0.39401	T	-3.78	0.71519	D	0.597	0.61596	-0.7472	0.58081	T	0.207	0.56649	T	10	0.5670163	0.65107	D	0.019434	0.41790	T	0.262	0.57482	0.584	0.71118	0.582605312856	0.57933	0.751044622475766	0.75051	0.265509625241	0.29105	0.62730640173	0.56764	T	0.129601	0.45798	T	-0.418718	0.01743	T	-0.564936	0.15916	T	0.938175201416016	0.60858	D	0.984901	0.94786	D	0.66179425	0.75995	0.47812787	0.69768	0.66179425	0.75996	0.47812787	0.69768	-7.899	0.60380	D	.	.	0.175	0.38300	B	.	.	4.845170	0.79146	27.0	0.99918339128978606	0.98586	0.97152	0.72995	D	AEFBI	0.663311	0.63287	D	0.633660127445814	0.75315	6.284283	0.639335462593309	0.77821	6.753363	0.999999992739866	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	5.15	0.70287	5.865000	0.69335	5.911000	0.51023	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.9316:0.0:0.0684	15.081	0.71786	940	0.13648	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1674.33	43	chr2	31349801	.	C	T	1674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=899;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.441;SOR=0.613	GT:AD:DP:GQ:PL	0/1:47,63:110:99:1688,0,1193	18	0	1	0
chr2	70816630	70816630	T	C	exonic	CLEC4F	.	nonsynonymous SNV	CLEC4F:NM_001258027:exon4:c.A751G:p.N251D,CLEC4F:NM_001321308:exon4:c.A751G:p.N251D,CLEC4F:NM_173535:exon4:c.A751G:p.N251D	.	428	1065	28	1	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0007	0.00159744	0.0029	0	0.0009	0	0.0020	0.0012	0.0077	0.0145	0.0024579	380	154602	rs62622841	0.0016	0.0016	0.0012	0.0021	0.0149	0.0016	0.0016	0.0142	0.0139	0.0002	0.0004	0.0021	2.519e-05	0.0022	0.0047	0.0007	0.0017	0.0149	0.0013	0.0013	0.0009	0.0017	0.0124	0.0011	0.0011	0.0099	0.0090	0.0002	0	0.0012	0.0037	0.0004	0.0024	0.0068	0.0010	0.0014	0.0124	0.117	0.29288	T	0.169	0.30534	T	0.061	0.23190	B	0.021	0.19346	B	0.539396	0.11553	N	0.702565	1	0.08975	N	0.445	0.12748	N	0.86	0.46777	T	-1.01	0.26639	N	0.107	0.09207	-0.9877	0.33175	T	0.112	0.40006	T	10	0.0044952333	0.00092	T	.	.	.	0.011	0.01250	.	.	0.478451964739	0.47474	0.18297663003121645	0.18216	0.0422964412412	0.04561	0.324426352978	0.14091	T	0.003951	0.03363	T	-0.58948	0.00169	T	-0.607199	0.12212	T	0.00546013592927516	0.00059	T	0.531447	0.17660	T	0.069418676	0.15208	0.056244295	0.10014	0.069418676	0.15208	0.056244295	0.10013	-5.3	0.39943	T	.	.	0.128	0.27283	B	.;.	.;.	0.514610	0.08836	5.613	0.97215028829663985	0.32874	0.05466	0.11346	N	AEFBI	0.069850	0.13844	N	-0.855892286631546	0.11906	0.5772341	-0.926100291121661	0.11479	0.5850418	7.6935927945451E-4	0.07776	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.04	1.54	0.22290	-0.027000	0.12319	-0.806000	0.07354	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.526000	0.29613	0.0:0.115:0.2154:0.6696	3.968	0.08930	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.026515	0.02632	1850.33	41	chr2	70816630	.	T	C	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=1440;ExcessHet=0;FS=3.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.015;SOR=0.981	GT:AD:DP:GQ:PL	0/1:95,67:162:99:1864,0,2633	18	0	1	0
chr2	70833960	70833960	C	T	exonic	CD207	.	nonsynonymous SNV	CD207:NM_015717:exon3:c.G251A:p.R84H	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0028	0.00379393	0.0029	0.0090	0.0010	0	0.0020	0.0011	0.0078	0.0148	0.0027619	427	154602	rs115727537	0.0017	0.0018	0.0014	0.0021	0.0144	0.0017	0.0017	0.0137	0.0134	0.0090	0.0009	0.0022	0.0001	0.0022	0.0048	0.0007	0.0023	0.0144	0.0036	0.0036	0.0033	0.0039	0.0129	0.0033	0.0032	0.0103	0.0094	0.0082	0	0.0014	0.0037	0.0006	0.0024	0.0068	0.0010	0.0024	0.0129	0.164	0.23360	T	0.103	0.38305	T	0.293	0.32367	B	0.017	0.18140	B	0.035235	0.24670	N	0.352176	0.971471	0.25651	N	1.35	0.33515	L	1.57	0.29342	T	-0.27	0.11366	N	0.12	0.11054	-1.0614	0.11410	T	0.030	0.12848	T	10	0.0052460134	0.00114	T	.	.	.	0.052	0.14661	.	.	0.252681307341	0.24864	0.13976538233500724	0.13899	0.183107272903	0.20593	0.295289248228	0.09701	T	0.05284	0.29274	T	-0.500324	0.00569	T	-0.479781	0.24468	T	0.00600929241448447	0.00066	T	0.721628	0.33490	T	0.0338815	0.03695	0.032381486	0.01966	0.028527945	0.02204	0.032973662	0.02117	-3.679	0.19008	T	.	.	0.080	0.07602	B	.	.	2.013343	0.25586	16.81	0.92125937401362568	0.21482	0.28590	0.23595	N	AEFDBI	0.077627	0.15643	N	-0.641494482600159	0.17708	0.9135327	-0.586541904374573	0.19843	1.066498	0.302758094702012	0.19205	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.77	2.9	0.32809	0.202000	0.17094	0.136000	0.15109	-0.176000	0.10722	0.199000	0.24297	0.004000	0.18990	0.973000	0.55318	0.1835:0.7182:0.0:0.0983	6.250	0.20052	875	0.30485	.	.	.	.	.	.	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	0.007049	0.000000	0.001359	0.000000	0.000000	0.000000	0.018293	0.026515	0.02632	1680.33	159	chr2	70833960	.	C	T	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=1300;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.901;SOR=0.514	GT:AD:DP:GQ:PL	0/1:85,65:150:99:1694,0,2151	18	0	1	0
chr2	84669433	84669433	C	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon38:c.C6229T:p.R2077C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.356920129997	.	.	4.452e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs576447190	8.144e-05	7.935e-05	8.881e-05	7.387e-05	0.0002	6.892e-05	6.414e-05	8.282e-05	7.72e-05	0	0.0001	0	0	0	0.0002	9.824e-05	3.441e-05	1.262e-05	4.603e-05	4.598e-05	6.426e-05	2.693e-05	7.35e-05	2.111e-05	1.528e-05	2.847e-05	1.858e-05	4.833e-05	0	0	0	0	0	0	7.35e-05	0	0	0.0	0.91255	D	.	.	.	0.983	0.60381	D	0.749	0.56004	P	.	.	.	.	0.999999	0.58761	D	2.825	0.82220	M	0.7	0.51474	T	-7.45	0.94899	D	0.859	0.85660	-0.3271	0.74218	T	0.295	0.66612	T	9	0.86177814	0.85401	D	0.35692	0.92413	D	0.552	0.81485	.	.	0.527455595252	0.52393	0.9358296372106351	0.93562	0.432291660162	0.43405	0.659931123257	0.61399	T	0.145439	0.48256	T	0.0894412	0.63126	D	0.155128	0.80507	D	0.695743192156289	0.40517	D	0.969003	0.88824	D	0.66150874	0.75979	0.68539834	0.81502	0.66150874	0.75981	0.68539834	0.81503	-9.52	0.70983	D	.	.	0.463	0.62825	A	.;.	.;.	5.488503	0.91455	32	0.99938329580113117	0.99698	0.94391	0.61016	D	AEFI	0.722423	0.67236	D	0.707091686148027	0.80100	7.219514	0.672152479238642	0.80271	7.261698	0.102214778130351	0.16407	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.460000	0.59844	7.641000	0.63200	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.767	0.88390	594	0.68584	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1531.33	35	chr2	84669433	.	C	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.01;DP=785;ExcessHet=0;FS=3.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.925;SOR=0.851	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1545,0,2186	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,25:253:99:0|1:94876587_C_A:364,0,9376:94876587	7	0	12	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|1:268,81:349:99:0|1:94876587_C_A:2594,0,11009:94876587	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|1:274,109:383:99:0|1:94876587_C_A:3651,0,11030:94876587	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|1:315,124:439:99:0|1:94876671_A_G:4259,0,12635:94876671	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|1:313,124:437:99:0|1:94876671_A_G:4265,0,12593:94876671	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	0/1:313,98:411:99:.:.:2105,0,8041:.	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|1:374,43:417:99:0|1:94876737_C_A:680,0,15447:94876737	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|1:372,43:415:99:0|1:94876737_C_A:686,0,15395:94876737	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	0/1:164,68:232:99:1576,0,4079	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	0/1:223,40:263:99:404,0,6159	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	0/1:188,170:358:99:3732,0,4925	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	0/1:196,113:309:99:2911,0,5211	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	0/1:268,36:304:99:226,0,10117	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	0/1:199,98:297:99:2386,0,5403	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:90,19:109:99:516,0,3693	6	0	13	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|1:103,76:179:99:0|1:95859969_A_AT:2876,0,4076:95859969	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|1:103,77:180:99:0|1:95859969_A_AT:2918,0,4073:95859969	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|1:104,76:180:99:0|1:95859969_A_AT:2873,0,4105:95859969	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	0/1:103,70:173:99:2630,0,2508	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	0/1:115,47:162:99:.:.:872,0,4390:.	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	0/1:98,61:159:99:.:.:2266,0,3908:.	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|1:91,52:143:99:0|1:95860020_G_A:1910,0,3658:95860020	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|1:91,50:141:99:0|1:95860020_G_A:1826,0,3664:95860020	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	0/1:74,36:110:99:1285,0,1923	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|1:122,49:171:99:0|1:95927222_G_GAT:1690,0,4975:95927222	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|1:126,60:186:99:0|1:95927222_G_GAT:2140,0,5110:95927222	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|1:134,75:209:99:0|1:95927222_G_GAT:2746,0,5401:95927222	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|1:145,134:279:99:0|1:95927222_G_GAT:5190,0,5685:95927222	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|1:158,175:333:99:0|1:95927222_G_GAT:6792,0,6077:95927222	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|1:168,179:347:99:0|1:95927222_G_GAT:6849,0,6319:95927222	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|1:128,72:200:99:0|1:95929092_T_C:2579,0,5106:95929092	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|1:150,81:231:99:0|1:95929092_T_C:2950,0,6055:95929092	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|1:174,113:287:99:0|1:95929092_T_C:4221,0,6966:95929092	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|1:177,127:304:99:0|1:95929092_T_C:4800,0,7050:95929092	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|1:177,129:306:99:0|1:95929092_T_C:4875,0,7016:95929092	0	0	19	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|1:51,17:68:99:0|1:97185336_GC_G:560,0,2090:97185336	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|1:52,17:69:99:0|1:97185336_GC_G:557,0,2132:97185336	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|1:52,17:69:99:0|1:97185336_GC_G:557,0,2132:97185336	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|1:55,17:72:99:0|1:97185336_GC_G:548,0,2258:97185336	2	0	17	0
chr2	97185463	97185463	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon30:c.C1994T:p.A665V	.	473	1039	9	1	0	11	0.00526568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000856481893255	.	.	1.028e-05	0	0	0	0	0	0	7.184e-05	6.5e-06	1	154602	rs75833559	6.854e-07	1.368e-06	1.364e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.231	0.25061	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.28	0.17271	T	-0.12	0.08809	N	0.032	0.00825	-0.9609	0.39012	T	0.011	0.04181	T	9	0.024200886	0.00658	T	8.56E-4	0.00734	T	0.014	0.01968	.	.	0.0138822411134	0.00435	.	.	.	.	0.743070244789	0.73424	T	0.009014	0.08238	T	-0.403894	0.02183	T	-0.817942	0.01494	T	0.0093427544450017	0.00119	T	0.645735	0.25721	T	0.01868397	0.00391	0.033223134	0.02182	0.01868397	0.00391	0.033223134	0.02182	0.645	0.00185	T	.	.	0.086	0.24123	B	.;.	.;.	-0.742138	0.01226	0.062	0.12259307603739275	0.00208	0.00022	0.00232	N	AEFBI	0.011068	0.00091	N	-1.92734804361364	0.00301	0.01294208	-1.94461049785471	0.00398	0.01761863	1.54412391909507E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.2	-1.87	0.07317	-0.125000	0.10555	0.003000	0.13321	-0.635000	0.04468	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4714:0.0:0.5286	4.360	0.10632	216	0.91608	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	64.01	177	chr2	97185463	.	C	T	64.01	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.92;DP=2578;ExcessHet=0.119;FS=39.003;InbreedingCoeff=-0.12;MLEAC=2;MLEAF=0.063;MQ=49.4;MQRankSum=-5.535;QD=0.3;ReadPosRankSum=-2.624;SOR=3.247	GT:AD:DP:GQ:PL	0/1:51,7:58:48:48,0,1366	14	0	2	3
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|1:37,7:44:99:0|1:97243981_C_T:183,0,1512:97243981	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|1:36,7:43:99:0|1:97243981_C_T:186,0,1491:97243981	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|1:97,111:208:99:0|1:97513219_T_C:4369,0,3739:97513219	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|1:105,119:224:99:0|1:97513219_T_C:4665,0,4010:97513219	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|1:117,147:264:99:0|1:97513244_G_T:5820,0,4470:97513244	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|1:117,155:272:99:0|1:97513244_G_T:6156,0,4446:97513244	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|1:117,155:272:99:0|1:97513244_G_T:6156,0,4446:97513244	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|1:122,168:290:99:0|1:97513268_C_T:6626,0,4617:97513268	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|1:122,169:291:99:0|1:97513268_C_T:6648,0,4614:97513268	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|1:123,168:291:99:0|1:97513268_C_T:6623,0,4639:97513268	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|1:126,171:297:99:0|1:97513268_C_T:6624,0,4654:97513268	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	0/1:89,62:151:99:1306,0,2238	0	0	19	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	323.58	38	chr2	99390613	.	G	A	323.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.215;DP=1448;ExcessHet=0.119;FS=184.646;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.083;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,21:116:99:.:.:187,0,2169:.	16	0	2	1
chr2	102736694	102736694	G	-	exonic	MFSD9	.	frameshift deletion	MFSD9:NM_032718:exon1:c.117delC:p.V40Sfs*28	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0009	0	0.0008	0	0	0.0003	0.0023	0.0044	0.0006792	105	154602	rs759295165	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0036	0.0035	0	0.0004	0	5.042e-05	0	0.0042	0.0002	0.0005	0.0040	0.0002	0.0002	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004032	0.000000	0.002717	0.002924	0.000000	0.000000	0.009202	0.003788	0.02632	1349.29	39	chr2	102736693	.	CG	C	1349.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.078;DP=748;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.218;SOR=0.577	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1363,0,1991	18	0	1	0
chr2	107827047	107827047	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon1:c.G34C:p.V12L	.	50	1425	43	4	0	51	0.0175801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0037	0.00778754	0.0117	0.0015	0.0105	0.0005	0.0007	0.0077	0.0160	0.0369	0.0065523	1013	154602	rs200269994	0.0062	0.0062	0.0053	0.0071	0.0311	0.0061	0.0060	0.0301	0.0297	0.0009	0.0057	0.0112	0.0001	0.0007	0.0187	0.0047	0.0073	0.0311	0.0042	0.0043	0.0039	0.0046	0.0279	0.0040	0.0039	0.0241	0.0226	0.0011	0	0.0041	0.0130	0	0.0002	0.0170	0.0050	0.0057	0.0279	0.078	0.33923	T	0.019	0.59159	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999983	0.18198	N	1.905	0.50856	L	0.17	0.60485	T	-1.08	0.28084	N	0.3	0.33904	-0.9830	0.34305	T	0.098	0.36574	T	9	0.0045077205	0.00093	T	.	.	.	0.074	0.21613	.	.	0.0482279557977	0.04254	0.023948682735829722	0.02345	.	.	0.881772816181	0.94199	D	0.088728	0.38221	T	-0.521336	0.00432	T	-0.497265	0.22632	T	0.00373020266113619	0.00040	T	0.49835	0.15517	T	0.076150656	0.17202	0.07288651	0.15777	0.076150656	0.17202	0.07288651	0.15777	-2.504	0.05808	T	.	.	0.200	0.42302	B	.	.	2.225963	0.28409	17.79	0.72210839047421527	0.09894	0.47494	0.27995	N	AEFI	0.165060	0.29151	N	-1.01880791318778	0.08214	0.3843195	-1.00716027016521	0.09627	0.4800498	1.13447791479607E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	2.33	-0.383	0.11856	0.967000	0.28941	8.571000	0.77606	-0.635000	0.04468	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.5143:0.0:0.4857:0.0	5.184	0.14502	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	0.016112	0.005263	0.004098	0.013423	0.000000	0.017241	0.037267	0.034615	0.05263	1782.83	33	chr2	107827047	.	G	C	1782.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.73;DP=852;ExcessHet=0.119;FS=0.613;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.37;MQRankSum=-1.312;QD=12.13;ReadPosRankSum=-1.511;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,27:54:99:0|1:107827047_G_C:1029,0,1052:107827047	17	0	2	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|1:0,73:183:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:6184,3391,4517:108259008	6	3	9	1
chr2	109129946	109129946	C	T	exonic	SH3RF3	.	nonsynonymous SNV	SH3RF3:NM_001099289:exon1:c.C406T:p.P136S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.100587773131	.	.	.	.	.	.	.	.	.	.	.	.	.	rs974527688	1.517e-06	4.788e-06	1.49e-06	1.545e-06	1.905e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.905e-06	0	0	6.593e-06	6.569e-06	1.289e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.503	0.07670	T	0.73	0.05165	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	2.2	0.18570	T	0.16	0.05217	N	0.11	0.09631	-1.0110	0.26604	T	0.057	0.23866	T	8	0.050785184	0.04862	T	0.100588	0.77296	D	0.014	0.01968	0.233	0.16155	0.102598925029	0.09809	0.3569931502599159	0.35613	0.192786017122	0.21608	0.81636941433	0.84471	D	0.002813	0.02207	T	-0.352784	0.04554	T	-0.744526	0.03703	T	0.0499625510984024	0.05494	T	0.491551	0.15120	T	0.028086325	0.02093	0.078679465	0.17644	0.028086325	0.02092	0.078679465	0.17644	-3.449	0.15725	T	.	.	0.066	0.02118	B	.	.	0.685795	0.10542	7.254	0.93464623731424612	0.23253	0.06330	0.12327	N	AEFDBCIJ	0.056137	0.10355	N	-1.08154010073936	0.06983	0.3230734	-1.12223807567815	0.07277	0.3533328	0.9999457274008	0.47345	0.59774	0.34471	0	0.552344	0.17405	0	0.596491	0.31596	0	0.492483	0.08430	1	.	.	3.89	0.317	0.15106	-0.030000	0.12257	2.280000	0.31891	0.578000	0.29377	0.000000	0.06391	0.997000	0.33255	0.046000	0.14843	0.2799:0.5052:0.2149:0.0	7.869	0.28719	397	0.82902	.	.	.	.	.	.	Likely benign	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	448.33	25	chr2	109129946	.	C	T	448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.501;DP=543;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.415;SOR=0.551	GT:AD:DP:GQ:PL	0/1:16,17:33:99:462,0,540	18	0	1	0
chr2	110995975	110995975	C	T	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon14:c.C1252T:p.R418W,ACOXL:NM_001371254:exon15:c.C1342T:p.R448W	.	427	1093	1	0	1	2	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0044	0.00419329	0.0011	0.0137	0.0006	0	0	4.499e-05	0	6.057e-05	0.0010414	161	154602	rs139353759	0.0004	0.0004	0.0004	0.0003	0.0144	0.0004	0.0003	0.0132	0.0127	0.0144	0.0007	0	5.039e-05	0	0.0016	0.0001	0.0007	0	0.0034	0.0034	0.0035	0.0033	0.0143	0.0031	0.0030	0.0132	0.0128	0.0143	0	0.0012	0	0	0	0	0.0002	0.0010	0	0.078	0.42199	T	0.046	0.92824	D	0.021	0.18474	B	0.033	0.22329	B	0.036168	0.24554	N	0.350307	0.554608	0.32162	D	2.125	0.59049	M	0.84	0.47477	T	-3.62	0.90771	D	0.321	0.37509	-0.9977	0.30563	T	0.095	0.35844	T	10	0.003551811	0.00064	T	.	.	.	0.078	0.22779	.	.	0.252681307341	0.24864	0.34142744704328043	0.34055	0.20919778314	0.23389	0.262737989426	0.05220	T	0.121073	0.44378	T	-0.53386	0.00365	T	-0.528599	0.19426	T	0.0309473164042663	0.02137	T	0.746025	0.37241	T	0.15355076	0.34799	0.15679084	0.36693	0.15355076	0.34799	0.15679084	0.36692	-8.5	0.72029	D	.	.	0.215	0.44410	B	.;.;.;.	.;.;.;.	1.507218	0.19370	14.23	0.81631563064624102	0.13781	0.39963	0.26330	N	AEFBI	0.173864	0.30096	N	-0.752521631796553	0.14565	0.7265895	-0.710476774786177	0.16699	0.8846774	0.995770277412393	0.34318	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.58	2.76	0.31527	-0.283000	0.08467	-3.770000	0.02549	-0.172000	0.11096	0.925000	0.32113	0.000000	0.08366	0.859000	0.40722	0.1454:0.6826:0.0:0.172	6.582	0.21795	.	.	Acyl-CoA oxidase, C-terminal;.;Acyl-CoA oxidase, 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	.	.	.	.	.	.	.	.	0.02632	1056.33	39	chr2	110995975	.	C	T	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=795;ExcessHet=0;FS=0.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.886;SOR=0.627	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1070,0,709	18	0	1	0
chr2	112389563	112389563	C	T	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.G3382A:p.A1128T,RGPD5:NM_005054:exon20:c.G3382A:p.A1128T	.	117	1380	25	0	0	25	0.00897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0117884177492	.	0.00159744	0.0016	0.0003	0.0013	0	0	0.0012	0.0079	0.0034	0.0006533	101	154602	rs200798390	0.0010	0.0010	0.0008	0.0011	0.0073	0.0009	0.0009	0.0052	0.0045	0.0005	0.0009	0.0049	2.519e-05	0.0002	0.0073	0.0007	0.0017	0.0038	0.0011	0.0011	0.0010	0.0012	0.0039	0.0009	0.0009	0.0026	0.0021	0.0002	0	0.0018	0.0055	0.0002	9.422e-05	0.0068	0.0011	0.0038	0.0039	0.474	0.15930	T	0.061	0.45530	T	0.993	0.65571	D	0.967	0.71530	D	.	.	.	.	0.783633	0.34298	D	2.295	0.65404	M	0.83	0.47815	T	-2.32	0.51478	N	0.77	0.80180	-0.8638	0.50988	T	0.189	0.54064	T	9	0.024629205	0.00684	T	0.011788	0.29763	T	0.176	0.44373	.	.	0.0846915920261	0.08053	0.018012939980075516	0.01755	.	.	0.760875821114	0.76059	T	0.017391	0.21649	T	-0.368876	0.03651	T	-0.303479	0.44355	T	0.0596955825237714	0.07120	T	0.955004	0.82846	D	0.15582679	0.35198	0.16746406	0.38633	0.15582679	0.35198	0.16746406	0.38632	-9.788	0.72632	D	.	.	0.310	0.53793	B	.;.	.;.	3.837150	0.55501	23.6	0.98953823016604758	0.49189	0.84527	0.43609	D	AEFI	0.489665	0.52747	N	0.171251221420047	0.49823	3.178443	0.0379768823520195	0.41495	2.493846	9.5524812134711E-5	0.04910	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	4.740000	0.61783	-3.510000	0.02732	0.268000	0.18485	1.000000	0.71638	0.000000	0.08366	0.665000	0.33109	0.2945:0.7055:0.0:0.0	6.327	0.20457	915	0.20917	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran 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	0.010996	0.000000	0.006906	0.023810	0.083333	0.017544	0.016129	0.004425	0.02632	1770.33	34	chr2	112389563	.	C	T	1770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.093;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.99;MQRankSum=-0.322;QD=3.89;ReadPosRankSum=0.489;SOR=0.667	GT:AD:DP:GQ:PL	0/1:344,111:455:99:1784,0,7843	18	0	1	0
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T,IL1RN:NM_000577:exon5:c.G316A:p.A106T,IL1RN:NM_001379360:exon5:c.G268A:p.A90T,IL1RN:NM_173841:exon6:c.G379A:p.A127T,IL1RN:NM_173843:exon6:c.G268A:p.A90T,IL1RN:NM_001318914:exon7:c.G268A:p.A90T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	448759	not_provided|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|IL1RN-related_disorder|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.010101	0.013587	0.023392	0.000000	0.000000	0.003049	0.007576	0.02632	1018.33	33	chr2	113132707	.	G	A	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.737;DP=730;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.59;SOR=0.617	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1032,0,1309	18	0	1	0
chr2	151534291	151534291	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon115:c.G16202A:p.R5401Q,NEB:NM_001164507:exon143:c.G21341A:p.R7114Q,NEB:NM_001271208:exon143:c.G21341A:p.R7114Q	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	284387	Inborn_genetic_diseases|Nemaline_myopathy_2|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	0.0100182936567	8.2e-05	0.000199681	0.0002	0	0	0.0007	0.0002	0.0002	0	0.0004	0.0001876	29	154602	rs372284984	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0008	0	4.472e-05	0.0003	0.0011	0	0.0010	9.534e-05	8.283e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0012	7.088e-05	5.745e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0	0.0001	0	0.0012	0.386	0.10980	T	0.275	0.33000	T	0.796	0.44790	P	0.227	0.38084	B	0.021149	0.26891	N	0.431390	1	0.81001	D	0.345	0.11182	N	1.01	0.41058	T	-0.8	0.22078	N	0.403	0.51405	-1.0868	0.06084	T	0.053	0.22462	T	10	0.029992968	0.01126	T	0.010018	0.26057	T	0.092	0.26621	.	.	0.459370960843	0.45562	0.07073201283251092	0.07010	.	.	0.387763917446	0.23355	T	0.014633	0.47444	T	-0.367109	0.03742	T	-0.435102	0.29358	T	0.0430038199674423	0.04238	T	0.663534	0.62070	T	0.0820836	0.18893	0.04689621	0.06637	0.0820836	0.18892	0.04689621	0.06636	-2.062	0.04457	T	.	.	0.106	0.19679	B	.;.;.;.;.;.	.;.;.;.;.;.	2.349094	0.30116	18.34	0.99654143081716018	0.77505	0.80145	0.39861	D	AEFI	0.155816	0.28107	N	0.177651171713481	0.50128	3.205731	0.31755268110024	0.56572	3.820601	0.00890022465600196	0.11760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	1.872000	0.39185	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1695:0.6858:0.0:0.1447	6.113	0.19333	897	0.25382	.;.;.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1366.33	33	chr2	151534291	.	C	T	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.305;SOR=0.638	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1380,0,1556	18	0	1	0
chr2	152099004	152099004	G	A	exonic	CACNB4	.	nonsynonymous SNV	CACNB4:NM_000726:exon1:c.C8T:p.S3F,CACNB4:NM_001145798:exon1:c.C8T:p.S3F	Episodic ataxia, type 5, Autosomal dominant	8	1509	5	0	0	5	0.00165399	.	.	.	201270	Episodic_ataxia_type_5|not_specified|Idiopathic_generalized_epilepsy|Juvenile_myoclonic_epilepsy|not_provided	MONDO:MONDO:0013464,MedGen:C1866039,OMIM:613855,Orphanet:211067|MedGen:CN169374|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	.	.	0.000199681	0.0005	0	0.0028	0	0	0.0008	0	0.0003	8.41e-05	13	154602	rs542973906	0.0003	0.0003	0.0003	0.0003	0.0020	0.0003	0.0003	0.0010	0.0008	3.301e-05	3.263e-05	0.0004	0	0.0001	0.0020	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0005	0.0004	4.812e-05	0	0	0	0	9.414e-05	0	0.0004	0	0.0012	0.055	0.39334	T	0.12	0.35970	T	0.418	0.35279	B	0.064	0.27215	B	0.007433	0.01168	N	3.060610	0.775345	0.29392	N	-0.345	0.03330	N	-0.67	0.72458	T	-0.22	0.10480	N	0.373	0.41459	-0.8741	0.50219	T	0.156	0.48755	T	10	0.02147293	0.00514	T	.	.	.	0.191	0.46948	.	.	0.852185675163	0.85076	0.3609376565164136	0.36007	0.789290064861	0.65692	0.668266534805	0.62590	T	0.070125	0.33882	T	-0.327231	0.06323	T	-0.387812	0.34808	T	0.108559037806583	0.13274	T	0.585741	0.21356	T	0.114753544	0.27088	0.19987255	0.43890	0.114753544	0.27088	0.19987255	0.43889	-5.496	0.42646	T	.	.	0.115	0.29697	B	.;.;.;.	.;.;.;.	3.402489	0.47165	22.4	0.98812170405043209	0.46639	0.81392	0.40805	D	AEFDGBHCI	0.255994	0.37500	N	-0.237185257389327	0.31618	1.77472	-0.0670093914428873	0.36763	2.143657	0.999999998431601	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.4	3.5	0.39181	0.931000	0.28471	6.278000	0.55377	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.1114:0.0:0.8886:0.0	8.630	0.33074	661	0.61838	.;.;.;.	.	.	.	.	.	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	565.33	20	chr2	152099004	.	G	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.236;DP=680;ExcessHet=0;FS=3.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.227;SOR=0.306	GT:AD:DP:GQ:PL	0/1:12,25:37:99:579,0,288	18	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:119,42:176:16:16,0,2178	8	0	9	2
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	8	1446	61	7	0	75	0.0252781	.	.	.	136097	not_provided|Nephronophthisis_12|Asphyxiating_thoracic_dystrophy_4|not_specified|Nephronophthisis|Jeune_thoracic_dystrophy|Connective_tissue_disorder	MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021652	0.000000	0.014946	0.043860	0.050000	0.017241	0.021341	0.030303	0.02632	1162.33	34	chr2	165917310	.	G	A	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.122;DP=720;ExcessHet=0;FS=2.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=2.46;SOR=0.431	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1176,0,1052	18	0	1	0
chr2	167242806	167242806	T	C	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.T748C:p.S250P,XIRP2:NM_152381:exon9:c.T1414C:p.S472P	.	429	1045	46	2	0	50	0.0233645	.	.	.	778897	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0025	0.00439297	0.0063	0.0004	0.0035	0	0.0003	0.0033	0.0134	0.0289	0.0055045	851	154602	rs143400009	0.0045	0.0045	0.0035	0.0054	0.0369	0.0044	0.0044	0.0329	0.0313	0.0010	0.0024	0.0049	5.038e-05	0.0004	0.0369	0.0029	0.0047	0.0301	0.0031	0.0031	0.0025	0.0037	0.0247	0.0029	0.0028	0.0211	0.0197	0.0006	0	0.0035	0.0063	0.0002	0.0004	0.0340	0.0034	0.0038	0.0247	0.006	0.63226	D	.	.	.	0.999	0.90584	D	0.996	0.88582	D	0.001944	0.37596	N	0.262543	0.999984	0.81001	D	2.9	0.83903	M	4.07	0.03063	T	-1.77	0.43717	N	0.354	0.42639	-1.2009	0.00143	T	0.028	0.11882	T	10	0.005220413	0.00114	T	.	.	.	0.095	0.27398	.	.	0.215869574891	0.21205	0.17762130883602176	0.17681	0.171636757321	0.19330	0.411723613739	0.26695	T	0.143441	0.47955	T	-0.449406	0.01139	T	-0.396004	0.33850	T	0.0422405308829457	0.04099	T	0.747925	0.36851	T	0.29689428	0.52624	0.4320337	0.66802	0.29689428	0.52624	0.4320337	0.66802	-2.586	0.06397	T	.	.	0.183	0.39765	B	.;.;.	.;.;.	4.240903	0.64293	24.7	0.99888557470709538	0.96281	0.95306	0.64209	D	AEFI	0.762766	0.70007	D	0.598691571459322	0.73092	5.91011	0.585353958195039	0.73888	6.044908	0.999999855070745	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	2.925000	0.48580	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.437	0.74881	665	0.61472	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.034743	0.015152	0.021739	0.070175	0.000000	0.034483	0.024390	0.060606	0.02632	2907.33	34	chr2	167242806	.	T	C	2907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=826;ExcessHet=0;FS=8.458;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.44;SOR=0.342	GT:AD:DP:GQ:PL	0/1:83,113:196:99:2921,0,1986	18	0	1	0
chr2	168877265	168877265	T	G	exonic	SPC25	.	nonsynonymous SNV	SPC25:NM_020675:exon4:c.A319C:p.K107Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0705414026475	0.0002	0.000199681	0.0004	0	0.0002	0	0.0002	0.0002	0	0.0022	0.0003428	53	154602	rs202047860	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.238e-05	0	0	9.366e-05	0.0003	9.714e-05	0.0003	0.0026	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	4.811e-05	0	0	0	0	0	0	0.0002	0.0005	0.0029	0.027	0.56456	D	0.023	0.57104	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.148532	0.999855	0.49910	D	2.36	0.67893	M	-2.12	0.86283	D	-1.83	0.60665	N	0.394	0.43514	0.091	0.84014	D	0.644	0.87579	D	10	0.021394432	0.00511	T	0.070541	0.71031	D	0.387	0.70358	.	.	0.825146589094	0.82349	0.5487411580663297	0.54800	0.822820859791	0.67256	0.558284282684	0.47025	T	0.053396	0.29432	T	-0.214747	0.18716	T	-0.0867937	0.64402	T	0.150634680781521	0.17154	T	0.777022	0.40965	T	0.2536553	0.48389	0.16435963	0.38079	0.2536553	0.48389	0.16435963	0.38078	-3.459	0.15863	T	.	.	0.128	0.41602	B	.;.	.;.	4.353161	0.66884	25.0	0.99502015573602953	0.68089	0.91113	0.52886	D	AEFGBI	0.466752	0.51427	N	0.403966837354803	0.61640	4.367838	0.441813420585599	0.64193	4.668886	0.999999800609258	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.54	5.54	0.82907	2.828000	0.47822	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.217	0.59293	731	0.54177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1472.33	33	chr2	168877265	.	T	G	1472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=772;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.141;SOR=0.778	GT:AD:DP:GQ:PL	0/1:81,63:144:99:1486,0,1969	18	0	1	0
chr2	169207167	169207167	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon39:c.C6553T:p.L2185F	Donnai-Barrow syndrome, Autosomal recessive	2	1515	5	0	0	5	0.00164745	.	.	.	719394	Donnai-Barrow_syndrome|LRP2-related_disorder|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.674	0.0614650332293	0.0003	0.000599042	0.0006	0	0.0002	0	0	0.0004	0.0011	0.0028	0.000608	94	154602	rs143884041	0.0007	0.0007	0.0007	0.0008	0.0024	0.0007	0.0007	0.0021	0.0020	5.983e-05	0.0002	0	0	0	0.0007	0.0007	0.0009	0.0024	0.0005	0.0005	0.0004	0.0006	0.0014	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0007	0	0	0	0	0.0007	0.0005	0.0014	0.009	0.57480	D	0.058	0.46182	T	0.996	0.68779	D	0.905	0.64260	P	0.000009	0.62929	D	0.064405	0.999995	0.58761	D	1.245	0.31408	L	-3.34	0.93975	D	-2.86	0.60188	D	0.29	0.32812	0.561	0.91386	D	0.784	0.92652	D	10	0.033501506	0.01528	T	0.061465	0.68339	D	0.674	0.87965	.	.	0.509200194529	0.50559	0.6913785171807288	0.69077	0.290016544937	0.31410	0.529114246368	0.42909	T	0.284148	0.65692	T	-0.184848	0.23016	T	-0.0432241	0.67483	D	0.135400494861176	0.15872	T	0.860314	0.55333	D	0.28326744	0.51360	0.2930931	0.55338	0.24487591	0.47441	0.24835414	0.50384	-3.227	0.12813	T	0.35778444766682344	0.45449	0.143	0.31431	B	.;.	.;.	3.954204	0.57946	23.9	0.99728681986174139	0.82619	0.94226	0.60497	D	AEFBI	0.414439	0.48371	N	0.610669509985455	0.73848	6.033732	0.6429634121047	0.78087	6.80636	0.975041573932338	0.29597	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.98	5.1	0.68917	4.211000	0.58304	9.912000	0.82435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0681:0.0:0.7987:0.1332	10.286	0.42747	905	0.23532	.;.	.	.	.	.	.	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	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1655.33	41	chr2	169207167	.	G	A	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.289;DP=755;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.216;SOR=0.514	GT:AD:DP:GQ:PL	0/1:54,66:120:99:1669,0,1342	18	0	1	0
chr2	170055568	170055568	C	T	exonic	UBR3	.	nonsynonymous SNV	UBR3:NM_172070:exon33:c.C4769T:p.A1590V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00517924039984	.	.	2.487e-05	0	8.694e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs748322148	1.917e-05	1.915e-05	1.634e-05	2.201e-05	0.0001	1.329e-05	1.144e-05	8.001e-05	6.238e-05	8.967e-05	0.0001	0	2.521e-05	0	0	4.499e-06	3.314e-05	0.0001	6.574e-06	6.568e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.304	0.23095	T	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.724377	0.06332	N	1.118720	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.9	0.31778	N	0.136	0.15187	-0.9821	0.34515	T	0.065	0.27017	T	10	0.0885379	0.15253	T	0.005179	0.13187	T	0.084	0.24469	0.467	0.53891	0.143184338766	0.13958	0.09402160008789225	0.09334	0.122279640433	0.13775	0.262906104326	0.05240	T	0.093079	0.39137	T	-0.424667	0.01598	T	-0.592736	0.13430	T	0.9537513256073	0.64102	D	0.711029	0.32195	T	0.020309428	0.00585	0.036905102	0.03233	0.020309428	0.00584	0.036905102	0.03232	-2.795	0.08138	T	.	.	0.069	0.11076	B	.;.;.	.;.;.	0.181632	0.05692	2.138	0.8207544798587828	0.14006	0.08060	0.14034	N	AEFBI	0.055743	0.10248	N	-1.30308637407349	0.03640	0.1629511	-1.4744069721704	0.02556	0.1177576	0.999999374438249	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.39	-7.66	0.01137	0.631000	0.24258	-0.316000	0.10002	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.2157:0.6472:0.0:0.1371	11.378	0.48982	456	0.79013	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1136.33	34	chr2	170055568	.	C	T	1136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.788;DP=748;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=2.32;SOR=0.833	GT:AD:DP:GQ:PL	0/1:29,47:76:99:1150,0,563	18	0	1	0
chr2	170392418	170392418	A	T	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon16:c.A1714T:p.I572L,MYO3B:NM_138995:exon16:c.A1714T:p.I572L	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0543397664191	8.2e-05	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs376020126	8.069e-05	8.824e-05	4.521e-05	0.0001	0.0012	6.856e-05	6.407e-05	0.0010	0.0009	0	0	0	0	0	0.0005	6.335e-06	0.0001	0.0012	7.876e-05	7.874e-05	3.853e-05	0.0001	0.0012	4.492e-05	3.509e-05	0.0005	0.0004	2.405e-05	0	6.535e-05	0	0	0	0	4.409e-05	0.0005	0.0012	0.245	0.17410	T	0.695	0.05825	T	0.064	0.23455	B	0.054	0.25828	B	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	1.205	0.30389	L	-2.34	0.87989	D	-0.63	0.18459	N	0.438	0.48872	-0.1757	0.78288	T	0.540	0.83022	D	10	0.059693575	0.07214	T	0.05434	0.65820	D	0.375	0.69358	0.45	0.51121	0.824748956951	0.82309	0.45507552544827956	0.45425	0.0778573199524	0.08765	0.502373933792	0.39159	T	0.097244	0.66340	T	-0.184082	0.23129	T	-0.0827488	0.64702	T	0.147091132136939	0.16870	T	0.880312	0.59828	D	0.34695888	0.56829	0.26999685	0.52886	0.34695888	0.56830	0.26999685	0.52885	-7.965	0.60831	D	.	.	0.137	0.33550	B	.;.;.	.;.;.	3.342137	0.46062	22.2	0.98106138360869055	0.38310	0.98913	0.88541	D	AEFI	0.911075	0.86985	D	0.0552090966079607	0.44383	2.713334	0.244380502071744	0.52331	3.408598	0.999999909314895	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.66	5.66	0.87293	7.454000	0.79769	8.152000	0.76714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	15.902	0.79172	385	0.83500	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	978.33	37	chr2	170392418	.	A	T	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=730;ExcessHet=0;FS=5.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.925;SOR=1.274	GT:AD:DP:GQ:PL	0/1:51,38:89:99:992,0,1226	18	0	1	0
chr2	174246778	174246778	G	A	exonic	OLA1	.	nonsynonymous SNV	OLA1:NM_001328688:exon2:c.C38T:p.P13L,OLA1:NM_013341:exon2:c.C38T:p.P13L	.	.	.	.	.	.	.	.	.	.	.	2346994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0115052927581	.	0.000199681	0.0001	9.737e-05	0.0003	0	0.0002	0.0001	0	0	0.0001552	24	154602	rs557878124	0.0001	0.0001	0.0001	0.0001	0.0021	9.342e-05	8.825e-05	0.0012	0.0009	0.0011	0.0002	0	0	5.623e-05	0.0021	5.939e-05	0.0005	2.324e-05	0.0001	0.0001	9e-05	0.0001	0.0001	7.091e-05	5.747e-05	6.805e-05	5.088e-05	0.0001	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.152	0.38185	T	0.198	0.35710	T	0.0	0.27095	B	0.001	0.26147	B	0.003744	0.34535	N	0.334108	0.998679	0.81001	D	0.895	0.22405	L	0.98	0.42888	T	-2.19	0.63090	N	0.258	0.29544	-1.0860	0.06227	T	0.054	0.22997	T	10	0.06359863	0.08309	T	0.011505	0.29187	T	0.037	0.09474	0.368	0.37687	0.411799315854	0.40795	0.4551860655419165	0.45436	0.357537245228	0.37467	0.651178717613	0.60153	T	0.441854	0.78623	T	-0.340839	0.05330	T	-0.442655	0.28511	T	0.0444258893091164	0.04497	T	0.875013	0.58582	D	0.067477554	0.14615	0.069918424	0.14791	0.067477554	0.14615	0.069918424	0.14790	-7.074	0.59720	T	.	.	0.104	0.25624	B	.;.;.;.	.;.;.;.	3.144032	0.42536	21.6	0.97503598832116423	0.34309	0.81644	0.41006	D	AEFDBI	0.253495	0.37299	N	-0.228325894772806	0.31976	1.798461	-0.0297092537754384	0.38380	2.260333	0.999996126984592	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	5.67	3.7	0.41607	3.315000	0.51661	6.294000	0.55403	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0952:0.0:0.5558:0.3489	6.236	0.19971	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	0.004550	0.000000	0.010870	0.005882	0.050000	0.000000	0.000000	0.000000	0.02632	1410.33	34	chr2	174246778	.	G	A	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.456;DP=803;ExcessHet=0;FS=2.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.836;SOR=0.877	GT:AD:DP:GQ:PL	0/1:79,64:143:99:1424,0,2000	18	0	1	0
chr2	178072267	178072267	A	-	exonic	PDE11A	.	frameshift deletion	PDE11A:NM_016953:exon1:c.171delT:p.T58Pfs*41	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	0	1435	82	5	0	92	0.0310601	.	.	.	205134	not_specified|not_provided|Pigmented_nodular_adrenocortical_disease,_primary,_2|PDE11A-related_disorder|Bardet-Biedl_syndrome_16	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439|.|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00938498	0.0065	0.0003	0.0005	0.0002	0.0002	0.0014	0.0070	0.0396	0.0004226	11	26028	rs529789124	0.0031	0.0031	0.0019	0.0044	0.0394	0.0031	0.0030	0.0383	0.0378	0.0002	0.0004	0.0093	5.039e-05	1.873e-05	0.0196	0.0005	0.0041	0.0394	0.0018	0.0018	0.0012	0.0025	0.0410	0.0017	0.0016	0.0363	0.0345	0.0001	0	0.0009	0.0069	0.0002	0	0.0034	0.0005	0.0024	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013105	0.000000	0.006793	0.020468	0.000000	0.008621	0.015244	0.026515	0.02632	1500.29	51	chr2	178072266	.	TA	T	1500.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=856;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.794;SOR=0.612	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1514,0,2421	18	0	1	0
chr2	178746258	178746258	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G16142A:p.R5381H	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	1518	2	0	0	2	0.000658328	.	.	.	588045	TTN-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.0115312968031	.	0.000399361	0.0005	9.752e-05	0.0002	0.0005	0	4.536e-05	0	0.0027	0.0003687	57	154602	rs369189673	0.0002	0.0002	8.449e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	5.996e-05	2.245e-05	3.84e-05	7.574e-05	0	0	1.44e-05	0.0003	0.0023	0.0001	0.0001	9.007e-05	0.0001	0.0027	7.584e-05	6.288e-05	0.0016	0.0013	4.818e-05	0	0	0	0.0004	0	0	0	0.0005	0.0027	0.371	0.11514	T	0.362	0.16865	T	1.0	0.90584	D	0.977	0.73820	D	.	.	.	.	0.523058	0.81001	D	.	.	.	-0.29	0.67712	T	-1.19	0.30346	N	0.596	0.61511	-0.3507	0.73533	T	0.412	0.75978	T	9	0.044131517	0.03336	T	0.011531	0.29247	T	0.215	0.50805	.	.	0.671674792424	0.66890	.	.	.	.	.	.	.	.	.	.	-0.374101	0.03392	T	-0.315073	0.43113	T	0.0642101473675281	0.07814	T	0.727827	0.34232	T	.	.	.	.	.	.	.	.	-4.853	0.35202	T	.	.	.	.	.	.	.	3.698450	0.52737	23.3	0.99330076060802996	0.59738	0.97082	0.72584	D	AEFBI	0.854323	0.77134	D	0.762309675555994	0.83705	8.087631	0.774211238844797	0.87950	9.402501	0.999999999892197	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.88	5.88	0.94564	6.171000	0.71829	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9288:0.0:0.0712	13.438	0.60547	341	0.85936	.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1710.33	35	chr2	178746258	.	C	T	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.443;DP=792;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.368;SOR=0.613	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1724,0,2284	18	0	1	0
chr2	178834304	178834304	C	T	exonic	CCDC141	.	nonsynonymous SNV	CCDC141:NM_173648:exon24:c.G4462A:p.G1488S	.	432	1086	4	0	0	4	0.00183824	.	.	.	2879573	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.381	.	.	0.00159744	0.0026	0	0.0053	0.0051	0.0170	0.0005	0.0106	0.0005	0.0003234	50	154602	rs199670476	0.0005	0.0005	0.0005	0.0005	0.0029	0.0005	0.0005	0.0025	0.0023	6.332e-05	2.801e-05	0.0004	0.0029	0.0119	0.0002	0.0001	0.0007	0.0005	0.0016	0.0016	0.0007	0.0024	0.0060	0.0014	0.0013	0.0043	0.0038	9.632e-05	0	0	0.0006	0.0060	0.0173	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993537	0.41970	D	.	.	.	.	.	.	.	.	.	.	.	-0.1797	0.78187	T	0.388	0.74298	T	9	0.0074644983	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483738660812	0.36571	T	.	.	.	-0.339454	0.05426	T	-0.257211	0.49101	T	0.0996705841103163	0.12321	T	0.630337	0.24523	T	.	.	.	.	.	.	.	.	-9.424	0.70386	D	.	.	0.288	0.51976	B	.	.	5.019157	0.83397	28.0	0.99845786951854953	0.92576	0.95954	0.66877	D	AEFHIJ	0.812178	0.73497	D	0.817819474525873	0.87206	9.138969	0.756319616195019	0.86629	8.950768	0.99999999955792	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.612816	0.40813	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	4.535000	0.60341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.079	0.97766	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	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	0.001337	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2249.33	34	chr2	178834304	.	C	T	2249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=803;ExcessHet=0;FS=3.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.311;SOR=0.89	GT:AD:DP:GQ:PL	0/1:78,83:161:99:2263,0,1789	18	0	1	0
chr2	181915997	181915997	G	A	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001287504:exon10:c.G1898A:p.R633Q,ITPRID2:NM_001130445:exon11:c.G2357A:p.R786Q,ITPRID2:NM_001287503:exon11:c.G2357A:p.R786Q,ITPRID2:NM_006751:exon11:c.G2357A:p.R786Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00522913950568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867145815	4.104e-06	4.104e-06	4.084e-06	4.125e-06	5.974e-05	1.48e-06	9.7e-07	9.89e-06	4.56e-06	5.974e-05	0	0	2.519e-05	0	0	0	0	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.496	0.07944	T	0.515	0.10967	T	0.0	0.02946	B	0.001	0.04355	B	0.822287	0.06891	N	1.075750	1	0.08975	N	.	.	.	2.84	0.13095	T	0.43	0.03297	N	0.102	0.08506	-0.9391	0.42759	T	0.012	0.04795	T	10	0.03508693	0.01742	T	0.005229	0.13341	T	0.069	0.20116	0.063	0.00257	0.0884992946249	0.08302	0.04744002941713298	0.04687	0.0242011642753	0.02460	0.230435460806	0.02000	T	0.032217	0.22391	T	-0.354169	0.04470	T	-0.746516	0.03623	T	0.025373783741459	0.01322	T	0.146985	0.03449	T	0.07757952	0.17616	0.027628906	0.00930	0.07757952	0.17616	0.027628906	0.00930	-3.155	0.11939	T	.	.	0.064	0.02609	B	.;.;.;.	.;.;.;.	0.496065	0.08651	5.423	0.63728113490892568	0.07301	0.02886	0.07670	N	AEFBCI	0.058057	0.10864	N	-1.30589101898465	0.03607	0.1614251	-1.21751798218967	0.05628	0.268698	0.991533794551612	0.32521	0.722319	0.85440	0	0.724815	0.89359	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.95	1.43	0.21585	1.969000	0.40134	0.148000	0.15257	-0.105000	0.15698	0.009000	0.18154	0.001000	0.17328	0.003000	0.05239	0.768:0.0:0.0987:0.1333	7.756	0.28088	679	0.60090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1682.33	33	chr2	181915997	.	G	A	1682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.172;SOR=0.641	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1696,0,1662	18	0	1	0
chr2	185789355	185789355	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G2219A:p.R740H	.	430	1087	4	1	0	6	0.00275229	.	.	.	2754654	not_specified|FSIP2-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0289105577056	.	0.00159744	0.0018	0	0	0	0	0.0007	0	0.0029	0.0003363	52	154602	rs79400482	0.0009	0.0008	0.0008	0.0010	0.0026	0.0008	0.0008	0.0023	0.0022	0.0003	0.0011	0	2.8e-05	8.834e-05	0.0002	0.0008	0.0008	0.0026	0.0008	0.0008	0.0009	0.0006	0.0025	0.0007	0.0006	0.0014	0.0011	0.0002	0	0.0017	0	0.0002	0	0	0.0010	0.0014	0.0025	0.031	0.45039	D	0.055	0.46862	T	.	.	.	.	.	.	0.075671	0.02299	N	1.876640	1	0.08975	N	0	0.06538	N	0.92	0.44461	T	-0.43	0.14390	N	0.049	0.02088	-1.0217	0.23162	T	0.062	0.25672	T	8	0.0062770247	0.00142	T	0.028911	0.51509	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.07121006052287021	0.07058	.	.	0.250207602978	0.03789	T	0.003943	0.03353	T	-0.654057	0.00068	T	-0.71502	0.05040	T	0.0156200355927939	0.00358	T	0.221578	0.02858	T	0.026352307	0.01682	0.024798859	0.00506	0.026352307	0.01682	0.024798859	0.00506	-4.191	0.26621	T	.	.	0.085	0.10304	B	.	.	0.138914	0.05329	1.819	0.6463340533995261	0.07548	0.01385	0.04712	N	AEFGI	.	.	.	-1.04577682632431	0.07671	0.3571204	-1.09009670663688	0.07894	0.3858648	7.52851396010441E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	1.94	0.25058	-0.033000	0.12196	-0.011000	0.13060	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2873:0.4819:0.1508:0.08	3.778	0.08188	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	33	chr2	185789355	.	G	A	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=1329;ExcessHet=0;FS=0.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.76;SOR=0.643	GT:AD:DP:GQ:PL	0/1:105,71:176:99:1761,0,2563	18	0	1	0
chr2	185790930	185790930	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G3794A:p.R1265H	.	432	1084	4	2	0	8	0.00367647	.	.	.	3214547	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00938498	0.0231	0	0.0127	0	0	0	0	0.0417	0.0024644	381	154602	rs200959994	0.0022	0.0022	0.0013	0.0032	0.0374	0.0022	0.0021	0.0362	0.0357	0.0002	0.0002	0	5.612e-05	0	0.0009	2.511e-05	0.0027	0.0374	0.0014	0.0014	0.0008	0.0020	0.0398	0.0012	0.0011	0.0352	0.0334	0.0002	0	0	0	0.0004	0	0	0	0.0014	0.0398	0.238	0.17821	T	0.397	0.15157	T	.	.	.	.	.	.	0.802356	0.06777	N	1.094680	1	0.08975	N	-1.15	0.00907	N	0.95	0.43279	T	1.06	0.01297	N	0.022	0.00372	-1.0050	0.28457	T	0.054	0.22883	T	8	0.0026957989	0.00042	T	.	.	.	0.018	0.03083	.	.	.	.	0.03942693988362319	0.03888	.	.	0.263157516718	0.05272	T	8.33E-4	0.00412	T	-0.651516	0.00071	T	-0.680771	0.06936	T	0.00641867255947901	0.00071	T	0.289271	0.05243	T	0.028150957	0.02110	0.039733328	0.04134	0.028150957	0.02109	0.039733328	0.04134	-3.151	0.11891	T	.	.	0.059	0.00847	B	.	.	0.663501	0.10320	7.050	0.84808125793802402	0.15510	0.00257	0.01410	N	AEFDI	.	.	.	-0.900536729878747	0.10829	0.5194833	-0.969374266741157	0.10478	0.5279287	1.17094141688093E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.39	0.271	0.14894	0.451000	0.21492	1.782000	0.28725	-0.676000	0.04273	0.002000	0.15269	0.000000	0.08366	0.010000	0.09038	0.6836:0.0:0.3164:0.0	6.301	0.20319	786	0.46839	.	.	.	.	.	.	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	0.004110	0.000000	0.000000	0.006024	0.000000	0.000000	0.000000	0.013514	0.02632	1614.33	111	chr2	185790930	.	G	A	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.741;DP=2203;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.268;SOR=0.69	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1628,0,1526	18	0	1	0
chr2	196666752	196666752	C	T	exonic	CCDC150	.	nonsynonymous SNV	CCDC150:NM_001080539:exon7:c.C796T:p.R266C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.011219957314	.	0.00119808	0.0004	0.0002	0.0001	0	0	5.645e-05	0	0.0021	0.0002652	41	154602	rs574804509	8.363e-05	8.482e-05	6.001e-05	0.0001	0.0009	7.151e-05	6.698e-05	0.0008	0.0007	0.0002	6.787e-05	0	0.0001	0	0.0002	1.441e-05	0.0002	0.0009	0.0001	0.0001	9.013e-05	0.0002	0.0021	8.182e-05	6.736e-05	0.0011	0.0009	0.0001	0	6.557e-05	0	0	0	0	2.942e-05	0	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.916	0.65201	D	0.005823	0.32475	N	0.235349	1	0.27750	N	2.38	0.68558	M	1.49	0.31470	T	-3.78	0.71519	D	0.503	0.53532	-0.9852	0.33784	T	0.140	0.45903	T	10	0.0092769265	0.00210	T	0.01122	0.28621	T	0.110	0.31079	0.258	0.20002	0.143124449307	0.13826	0.1223406858630664	0.12161	0.268599254573	0.29375	0.242195427418	0.02991	T	0.107812	0.42033	T	-0.401438	0.02266	T	-0.384792	0.35161	T	0.1011737009035	0.12486	T	0.768323	0.39714	T	0.22734414	0.45432	0.1358286	0.32511	0.22734414	0.45433	0.1358286	0.32510	-8.4	0.63765	D	.	.	0.118	0.24054	B	.	.	2.895572	0.38363	20.7	0.99883447761924848	0.95892	0.27339	0.23250	N	AEFBI	0.137160	0.25806	N	0.152056237753927	0.48909	3.097475	0.0110384428264234	0.40227	2.397352	0.0145001662335106	0.12603	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.53	4.62	0.56946	1.656000	0.36971	1.699000	0.28119	0.599000	0.40250	0.002000	0.15269	0.002000	0.18203	0.021000	0.11733	0.1579:0.8421:0.0:0.0	13.231	0.59372	267	0.89517	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	470.33	34	chr2	196666752	.	C	T	470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=680;ExcessHet=0;FS=2.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.136;SOR=1.051	GT:AD:DP:GQ:PL	0/1:35,19:54:99:484,0,871	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|1:35,35:70:99:0|1:197523645_G_A:608,0,556:197523645	1	0	17	1
chr2	201872296	201872296	C	T	exonic	CDK15	.	nonsynonymous SNV	CDK15:NM_001261435:exon11:c.C1028T:p.T343M,CDK15:NM_001261436:exon11:c.C1028T:p.T343M,CDK15:NM_001366386:exon11:c.C1028T:p.T343M,CDK15:NM_139158:exon11:c.C875T:p.T292M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0141996099187	7.7e-05	.	5.766e-05	0	0	0	0	5.994e-05	0	0.0002	4.53e-05	7	154602	rs375122798	3.352e-05	3.352e-05	3.539e-05	3.163e-05	0.0010	2.566e-05	2.312e-05	0.0005	0.0003	5.974e-05	4.472e-05	0.0002	0	3.744e-05	0.0010	1.978e-05	6.623e-05	5.797e-05	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.18e-06	8.2e-07	.	.	2.416e-05	0	0	0.0003	0	0	0	0	0	0	0.057	0.42199	T	0.251	0.39799	T	.	.	.	.	.	.	0.765115	0.06564	N	1.118330	1	0.08975	N	0.875	0.21512	L	0.93	0.44065	T	-0.68	0.19509	N	0.321	0.38129	-0.9963	0.30946	T	0.082	0.32353	T	10	0.09571901	0.17116	T	0.014	0.34156	T	0.041	0.10877	.	.	0.195762928549	0.19159	0.26231965694259957	0.26144	0.0919478431582	0.10381	0.380782008171	0.22367	T	.	.	.	-0.326451	0.06384	T	-0.504047	0.21929	T	0.0516301840543747	0.05784	T	0.761624	0.38671	T	.	.	.	.	.	.	.	.	-5.24	0.41178	T	.	.	0.065	0.02012	B	.;.;.;.	.;.;.;.	2.577432	0.33407	19.33	0.9623193173344794	0.29122	0.13360	0.17812	N	AEFBI	0.047925	0.08123	N	-0.687370197968248	0.16380	0.8340624	-0.642873313310101	0.18397	0.982579	0.91844617150485	0.26572	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	3.1	0.34780	1.686000	0.37287	.	.	-0.089000	0.16174	0.719000	0.28811	1.000000	0.68203	0.735000	0.35267	0.6552:0.3448:0.0:0.0	9.784	0.39829	116	0.95299	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1355.33	87	chr2	201872296	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1240;ExcessHet=0;FS=2.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.481;SOR=0.672	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1369,0,1419	18	0	1	0
chr2	203133135	203133135	A	G	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon26:c.A3715G:p.I1239V,NBEAL1:NM_001378026:exon27:c.A3802G:p.I1268V	.	.	.	.	.	.	.	.	.	.	.	781112	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00593198680856	.	0.000599042	0.0009	0	0	0	0	0	0	0.0024	0.0001423	22	154602	rs573346429	0.0001	0.0001	6.319e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	9.869e-06	9.074e-05	0.0021	5.254e-05	5.249e-05	1.285e-05	9.4e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.398	0.10553	T	0.765	0.04555	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.998098	0.22354	N	0.805	0.20218	L	0.54	0.54911	T	-0.25	0.11008	N	0.075	0.04913	-1.0309	0.20163	T	0.078	0.31193	T	9	0.012604207	0.00270	T	0.005932	0.15460	T	0.048	0.13305	0.243	0.17677	0.232513804876	0.22884	0.07795713754506468	0.07731	0.0890324981176	0.10061	0.386472910643	0.23171	T	0.001703	0.01130	T	-0.55795	0.00261	T	-0.579159	0.14620	T	0.0134099099572671	0.00243	T	0.684632	0.29288	T	0.025961433	0.01593	0.040428996	0.04366	0.025961433	0.01593	0.040428996	0.04365	-3.567	0.17381	T	.	.	0.071	0.03736	B	.	.	1.171746	0.15615	11.98	0.80649991644681462	0.13303	0.63873	0.32226	D	AEFGBI	0.052435	0.09358	N	-0.487050858414662	0.22505	1.202123	-0.321333903099037	0.27410	1.520791	6.53553361954207E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.55	2.03	0.25714	2.308000	0.43350	2.683000	0.34031	0.688000	0.82842	0.988000	0.36536	0.962000	0.29361	0.998000	0.85391	0.5756:0.1773:0.2471:0.0	5.139	0.14281	319	0.87030	.	.	.	.	.	.	Likely benign	0	0	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	341.33	33	chr2	203133135	.	A	G	341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-1.797;SOR=0.732	GT:AD:DP:GQ:PL	0/1:33,19:52:99:355,0,810	18	0	1	0
chr2	203490048	203490048	T	C	exonic	RAPH1	.	nonsynonymous SNV	RAPH1:NM_001329728:exon4:c.A268G:p.M90V,RAPH1:NM_203365:exon4:c.A268G:p.M90V,RAPH1:NM_213589:exon4:c.A268G:p.M90V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.0455361449858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.32e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.004	0.92824	D	0.969	0.65571	D	0.914	0.75168	D	0.000021	0.62929	D	0.000000	0.999997	0.58761	D	2.455	0.71248	M	0.47	0.56937	T	-3.66	0.72240	D	0.841	0.90476	-0.3382	0.73896	T	0.336	0.70264	T	10	0.69963217	0.78748	D	0.045536	0.62027	D	0.467	0.76222	0.359	0.36222	0.858191669756	0.85682	0.4249930862521477	0.42416	0.812633280634	0.66805	0.820127487183	0.85046	D	0.704097	0.91505	D	0.328703	0.85074	D	0.234382	0.84879	D	0.970324981854689	0.68908	D	0.944306	0.81786	D	0.6570168	0.75739	0.7138539	0.83114	0.6570168	0.75740	0.7138539	0.83115	-10.843	0.80496	D	.	.	0.488	0.70718	A	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.249554	0.64489	24.7	0.99413752461097515	0.63405	0.99079	0.90917	D	AEFBI	0.928923	0.91389	D	0.734994504210297	0.81926	7.637877	0.735163695440577	0.85045	8.464877	0.999999999822127	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	8.017000	0.88732	7.925000	0.74723	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.705	0.77333	362	0.84826	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1331.33	33	chr2	203490048	.	T	C	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=715;ExcessHet=0;FS=1.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-2.022;SOR=0.487	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1345,0,943	18	0	1	0
chr2	206760904	206760904	C	A	exonic	MDH1B	.	nonsynonymous SNV	MDH1B:NM_001039845:exon2:c.G132T:p.W44C,MDH1B:NM_001282940:exon2:c.G132T:p.W44C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	.	.	0.00199681	0.0014	0	0	0	0	1.502e-05	0	0.0100	0.0011902	184	154602	rs376380517	0.0005	0.0005	0.0003	0.0008	0.0085	0.0005	0.0005	0.0080	0.0078	0	0	0	0	0	0.0002	3.652e-06	0.0005	0.0085	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	0	0	0	0	0	0	0	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	N	0.055519	1	0.81001	D	3.07	0.87108	M	0.25	0.59449	T	-11.07	0.99335	D	0.957	0.96758	-0.0273	0.81688	T	0.427	0.77029	T	10	0.026294261	0.00800	T	.	.	.	0.502	0.78475	0.646	0.78330	0.762636210987	0.76047	0.9466555707015513	0.94648	0.656389725194	0.58641	0.607684969902	0.53988	T	0.475022	0.80624	T	-0.0461473	0.45032	T	0.167901	0.81283	D	0.614460468292236	0.36980	D	0.864413	0.56163	D	0.8708294	0.88927	0.8422697	0.90989	0.8708294	0.88928	0.8422697	0.90989	-12.713	0.88168	D	.	.	0.965	0.88666	P	.;.	.;.	5.735303	0.93300	33	0.99234314252932043	0.56342	0.99458	0.96281	D	AEFDGBI	0.912474	0.87316	D	0.780252833665985	0.84855	8.40611	0.728143797440921	0.84515	8.314	0.999999995400968	0.74766	0.549168	0.22868	0	0.59043	0.45803	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.62	4.73	0.59485	7.168000	0.77132	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8709:0.1291:0.0	16.777	0.85415	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	756.33	50	chr2	206760904	.	C	A	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=789;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.228;SOR=0.564	GT:AD:DP:GQ:PL	0/1:50,33:83:99:770,0,1212	18	0	1	0
chr2	207712024	207712024	T	C	exonic	CCNYL1	.	nonsynonymous SNV	CCNYL1:NM_001142300:exon1:c.T128C:p.V43A,CCNYL1:NM_001330218:exon1:c.T128C:p.V43A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.079578759055	.	0.000798722	0.0007	0	0	0	0	0	0	0.0078	0.0001811	28	154602	rs557924804	0.0001	0.0001	6.846e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	9.474e-07	0.0002	0.0022	0.0001	0.0001	5.143e-05	0.0002	0.0041	9.15e-05	7.705e-05	0.0027	0.0023	2.408e-05	0	0	0	0	0	0	0	0	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.849	0.46879	P	0.377	0.43762	B	.	.	.	.	1	0.25826	N	1.87	0.49600	L	1.42	0.33189	T	1.11	0.07736	N	0.145	0.15749	-1.0717	0.09043	T	0.031	0.13242	T	8	0.004886389	0.00104	T	0.079579	0.73267	D	0.035	0.08770	.	.	0.493523153317	0.48987	0.1470991605094765	0.14631	1.01503540728	0.74912	0.902334451675	0.96695	D	0.011237	0.13521	T	-0.562748	0.00244	T	-0.586362	0.13982	T	0.0619955642035982	0.07479	T	0.29847	0.11799	T	0.063795544	0.13469	0.10370718	0.24888	0.063795544	0.13469	0.10370718	0.24888	-2.727	0.07919	T	.	.	0.133	0.28636	B	.;.;.	.;.;.	1.207204	0.16000	12.25	0.59968804360259731	0.06350	0.01358	0.04650	N	ALL	0.013520	0.00182	N	-0.509638637171788	0.21766	1.157605	-0.585221507059758	0.19878	1.068498	0.999999999738866	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.96	2.91	0.32903	0.848000	0.27362	0.322000	0.17195	0.502000	0.22824	0.133000	0.23395	0.776000	0.26740	0.900000	0.43643	0.0:0.4886:0.0:0.5114	4.254	0.10159	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	697.33	35	chr2	207712024	.	T	C	697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.292;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.569;SOR=0.604	GT:AD:DP:GQ:PL	0/1:24,31:55:99:711,0,582	18	0	1	0
chr2	210203398	210203398	A	G	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon8:c.T917C:p.M306T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.131174891866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.869e-07	6.849e-07	0	1.381e-06	9.031e-07	0	0	.	.	0	0	0	0	0	0	9.031e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.184	0.29056	T	0.863	0.47474	P	0.601	0.50808	P	0.000000	0.84330	D	0.035431	0.999999	0.58761	D	1.555	0.39373	L	-3.82	0.95761	D	-2.55	0.55181	D	0.652	0.66272	0.719	0.93406	D	0.835	0.94468	D	10	0.7906078	0.78627	D	0.131175	0.81340	D	0.781	0.92705	0.693	0.83032	0.973523732714	0.97324	0.81729814341943	0.81686	0.299065426323	0.32277	0.681230187416	0.64445	T	0.88076	0.97499	D	0.292097	0.82328	D	0.182	0.82100	D	0.788304626941681	0.45579	D	0.908709	0.67605	D	0.46967185	0.65269	0.51698613	0.72093	0.46967185	0.65270	0.51698613	0.72093	-12.894	0.88921	D	.	.	0.396	0.59341	A	.	.	4.331457	0.66370	25.0	0.83975082884867935	0.15026	0.93596	0.58651	D	AEFDGBHCI	0.917896	0.88617	D	0.344328750859737	0.58441	4.016344	0.364280247618323	0.59373	4.114521	0.999999882292844	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.43	5.43	0.79006	6.887000	0.75425	9.307000	0.79926	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	1.0:0.0:0.0:0.0	15.483	0.75271	708	0.56926	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	35	chr2	210203398	.	A	G	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=687;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.643;SOR=0.915	GT:AD:DP:GQ:PL	0/1:28,37:65:99:885,0,592	18	0	1	0
chr2	210648034	210648034	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon26:c.C3313T:p.P1105S,CPS1:NM_001122633:exon27:c.C3313T:p.P1105S,CPS1:NM_001369256:exon27:c.C3346T:p.P1116S,CPS1:NM_001369257:exon28:c.C3313T:p.P1105S	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	883654	Congenital_hyperammonemia,_type_I|CPS1-related_disorder|not_provided	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.494	0.0964869829126	.	.	0.0001	0	0	0	0	1.5e-05	0	0.0007	8.41e-05	13	154602	rs761921978	5.678e-05	5.678e-05	4.22e-05	7.151e-05	0.0010	4.677e-05	4.302e-05	0.0006	0.0006	0	0	0	0	0	0.0010	4.497e-06	6.624e-05	0.0008	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.528	0.07093	T	0.643	0.07059	T	0.238	0.30817	B	0.126	0.32692	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	-4.37	0.97343	D	-0.63	0.28084	N	0.712	0.71498	0.839	0.94896	D	0.885	0.96185	D	10	0.37321413	0.53635	T	0.096487	0.76611	D	0.494	0.77973	0.34	0.33141	0.955078305994	0.95460	0.8493174372997226	0.84893	0.786206304104	0.65525	0.758834838867	0.75756	T	0.584738	0.86456	D	0.0662238	0.60386	T	0.240566	0.85174	D	0.154851795547265	0.17483	T	0.915508	0.69822	D	0.29826957	0.52748	0.21811399	0.46503	0.29826957	0.52748	0.21811399	0.46502	-7.069	0.54537	T	0.21552923449718284	0.28978	0.253	0.49018	B	.;.;.	.;.;.	3.403815	0.47185	22.4	0.97141732595482599	0.32547	0.98567	0.84178	D	AEFBI	0.938033	0.93663	D	0.275486991549162	0.54909	3.655521	0.410444951496737	0.62213	4.43322	0.99999998392425	0.74766	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.86	5.86	0.93936	5.809000	0.68843	7.703000	0.66393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.188	0.98226	398	0.82839	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	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	0.002020	0.000000	0.002725	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	1692.83	34	chr2	210648034	.	C	T	1692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.033;DP=737;ExcessHet=0.119;FS=0.657;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.389;SOR=0.628	GT:AD:DP:GQ:PL	0/1:29,29:58:99:858,0,790	17	0	2	0
chr2	218485743	218485743	C	A	exonic	USP37	.	nonsynonymous SNV	USP37:NM_020935:exon16:c.G1591T:p.A531S	.	2	223	1	0	0	1	0.00223714	0.9965	0.754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	.	0.000399361	0.0013	0	0	0	0	0	0	0.0093	0.001022	158	154602	rs562434975	0.0005	0.0005	0.0003	0.0007	0.0079	0.0005	0.0004	0.0074	0.0072	0	2.298e-05	3.843e-05	0	0	0.0003	1.801e-06	0.0004	0.0079	0.0002	0.0002	9.024e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0.0002	0	0	0	0	0.0054	0.024	0.47745	D	0.698	0.06970	T	0.6	0.39325	P	0.389	0.44119	B	0.008452	0.30835	N	0.375150	0.869139	0.35529	D	2.325	0.66631	M	0.99	0.41750	T	-1.44	0.35399	N	0.262	0.32921	-0.9563	0.39861	T	0.106	0.38661	T	10	0.01013729	0.00227	T	0.007913	0.20981	T	0.046	0.12618	.	.	0.29893580763	0.29502	0.2815794952381553	0.28070	0.384302552524	0.39735	0.678700208664	0.64081	T	0.003115	0.02515	T	-0.478983	0.00750	T	-0.45497	0.27149	T	0.0946122983999145	0.11753	T	0.885811	0.61165	D	0.18434629	0.39746	0.13166231	0.31611	0.18434629	0.39746	0.13166231	0.31610	-9.444	0.70510	D	.	.	0.148	0.32661	B	.;.;.;.	.;.;.;.	4.425841	0.68596	25.3	0.99600428181605516	0.74160	0.97973	0.78548	D	AEFBI	0.644952	0.62102	D	0.173199231564939	0.49914	3.18677	0.250633502091719	0.52686	3.441739	0.962605160250899	0.28634	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	4.46	4.46	0.53567	4.040000	0.57044	4.915000	0.45989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:1.0:0.0:0.0	15.837	0.78586	914	0.21048	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	523.33	33	chr2	218485743	.	C	A	523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=763;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=3.39;SOR=0.66	GT:AD:DP:GQ:PL	0/1:24,22:46:99:537,0,540	18	0	1	0
chr2	218634560	218634560	G	A	exonic	PLCD4	.	nonsynonymous SNV	PLCD4:NM_032726:exon13:c.G1826A:p.R609H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.0115245956715	.	0.000199681	0.0009	0	8.639e-05	0	0	0	0	0.0065	0.0007309	113	154602	rs543955232	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0049	2.987e-05	0.0001	3.826e-05	2.519e-05	0	0.0007	8.994e-06	0.0003	0.0054	0.0002	0.0002	6.423e-05	0.0003	0.0039	0.0001	9.233e-05	0.0026	0.0021	4.811e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0039	0.004	0.65419	D	0.012	0.63918	D	1.0	0.90584	D	0.979	0.74454	D	0.000810	0.41658	D	0.220293	0.999892	0.50595	D	3.46	0.92336	M	0.42	0.56937	T	-4.44	0.77637	D	0.558	0.59563	0.026	0.82772	D	0.456	0.78814	T	10	0.022393554	0.00558	T	0.011525	0.29227	T	0.517	0.79400	.	.	0.804294555599	0.80246	0.6077237105237117	0.60704	0.885700694334	0.69982	0.263643443584	0.05332	T	0.841506	0.96308	D	-0.291139	0.09522	T	-0.188366	0.55744	T	0.326033111623558	0.26065	T	0.914708	0.86445	D	0.2963753	0.52578	0.1733155	0.39649	0.2963753	0.52578	0.1733155	0.39648	-8.437	0.64010	D	.	.	0.237	0.47105	B	.;.;.	.;.;.	5.285195	0.88739	29.7	0.99883452793489402	0.95892	0.99806	0.99590	D	AEFDBI	0.823733	0.74378	D	0.855546262667097	0.89421	9.965094	0.737831899861871	0.85245	8.523472	0.999999999710625	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.65	5.65	0.86881	9.910000	0.98672	9.901000	0.82349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.0:1.0:0.0	19.522	0.95182	923	0.18507	Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y 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	0.002518	0.000000	0.000000	0.005848	0.000000	0.017241	0.003049	0.000000	0.02632	2403.33	43	chr2	218634560	.	G	A	2403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=857;ExcessHet=0;FS=1.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.161;SOR=0.804	GT:AD:DP:GQ:PL	0/1:66,93:159:99:2417,0,1439	18	0	1	0
chr2	218651734	218651734	C	T	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366290:exon4:c.G847A:p.V283I,ZNF142:NM_001379659:exon5:c.G847A:p.V283I,ZNF142:NM_001379660:exon5:c.G847A:p.V283I,ZNF142:NM_001379661:exon5:c.G847A:p.V283I	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0006	0	0	0	0	0	0	0.0012	5.17e-05	8	154602	rs537511344	9.678e-05	7.73e-05	7.425e-05	0.0001	0.0012	8.207e-05	7.636e-05	0.0010	0.0009	0.0002	0	0	0	0	0	1.087e-05	0.0002	0.0012	5.25e-05	5.249e-05	2.569e-05	8.053e-05	0.0006	2.554e-05	1.828e-05	0.0002	8.989e-05	4.808e-05	0	0	0	0	9.414e-05	0	1.47e-05	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	1488.33	34	chr2	218651734	.	C	T	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=749;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.015;SOR=0.843	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1502,0,1490	18	0	1	0
chr2	219231952	219231952	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A173C:p.E58A,ANKZF1:NM_018089:exon3:c.A173C:p.E58A	.	417	1103	1	1	0	3	0.00135808	.	.	.	1153998	ANKZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00259585	0.0012	0	8.645e-05	0	0	0	0	0.0088	0.0010479	162	154602	rs369043900	0.0005	0.0005	0.0003	0.0007	0.0079	0.0005	0.0005	0.0074	0.0072	0	0	0	0	0	0.0010	1.799e-06	0.0006	0.0079	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	2.406e-05	0	0	0	0	0	0	2.94e-05	0	0.0089	0.193	0.25873	T	0.29	0.30436	T	0.075	0.24198	B	0.055	0.25995	B	0.004762	0.33407	N	0.346719	0.99741	0.43869	D	2.71	0.79292	M	1.73	0.26445	T	-1.03	0.53258	N	0.133	0.12913	-0.9685	0.37510	T	0.116	0.40919	T	10	0.0032258332	0.00055	T	.	.	.	0.022	0.04323	0.341	0.33302	0.712709602629	0.71019	0.32588230398109863	0.32501	0.120202699321	0.13538	0.362540781498	0.19756	T	0.002944	0.21502	T	-0.528519	0.00392	T	-0.525702	0.19717	T	0.0572965060756237	0.06736	T	0.792121	0.43364	T	0.037600532	0.04850	0.024819145	0.00508	0.037600532	0.04849	0.024819145	0.00508	-4.568	0.31767	T	.	.	0.089	0.22208	B	.;.;.;.	.;.;.;.	1.886983	0.23966	16.22	0.94873875164361976	0.25697	0.87961	0.47687	D	AEFDBI	0.099441	0.20018	N	-0.0053343925648749	0.41612	2.492203	-0.00856346660108221	0.39325	2.330044	0.999859346607416	0.44174	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	2.77	0.31614	0.414000	0.20885	3.961000	0.40748	0.684000	0.82519	0.669000	0.28339	1.000000	0.68203	0.983000	0.59808	0.7544:0.0:0.2456:0.0	5.123	0.14202	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	975.33	34	chr2	219231952	.	A	C	975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=701;ExcessHet=0;FS=10.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.009;SOR=1.506	GT:AD:DP:GQ:PL	0/1:49,39:88:99:989,0,1236	18	0	1	0
chr2	224796987	224796987	A	G	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon43:c.T4786C:p.S1596P,DOCK10:NM_001363762:exon43:c.T4843C:p.S1615P,DOCK10:NM_014689:exon43:c.T4804C:p.S1602P	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.00734975460636	.	0.000399361	0.0005	0.0001	0	0.0001	0	6.016e-05	0.0011	0.0033	0.0004075	63	154602	rs201933376	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0.0001	0	0.0002	4.498e-05	0.0002	0.0032	0.0001	0.0001	6.428e-05	0.0002	0.0033	7.091e-05	5.748e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.47e-05	0	0.0033	0.013	0.53900	D	0.009	0.69154	D	0.958	0.54977	D	0.418	0.45020	B	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.125	0.59049	M	3.54	0.04799	T	-3.41	0.67129	D	0.929	0.94077	-1.1948	0.00193	T	0.040	0.17020	T	10	0.020558476	0.00476	T	0.00735	0.19496	T	0.481	0.77142	.	.	0.439551795455	0.43578	0.6945832434658576	0.69399	0.702793909677	0.61229	0.823256969452	0.85527	D	0.174243	0.52340	T	-0.114742	0.33985	T	0.0599837	0.74243	D	0.136322886650673	0.15954	T	0.945505	0.79230	D	0.7909911	0.83335	0.8241624	0.89806	0.7909911	0.83337	0.8241624	0.89807	-8.404	0.63791	D	.	.	0.691	0.82343	P	.;.;.	.;.;.	4.388397	0.67704	25.1	0.99902417574585523	0.97426	0.98950	0.89059	D	AEFDGBI	0.969120	0.99155	D	0.71576303105237	0.80666	7.345079	0.759055896631479	0.86831	9.017444	0.999999999575565	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.631631	0.49550	0	.	.	6.02	6.02	0.97559	8.947000	0.92735	9.317000	0.80010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.545	0.84275	764	0.49969	.;Dedicator of cytokinesis, C-terminal;Dedicator of cytokinesis, 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	.	.	.	.	.	.	.	.	0.02632	1507.33	34	chr2	224796987	.	A	G	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=705;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=2.18;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,39:71:99:0|1:224796987_A_G:1521,0,1216:224796987	18	0	1	0
chr2	224796988	224796988	C	A	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon43:c.G4785T:p.K1595N,DOCK10:NM_001363762:exon43:c.G4842T:p.K1614N,DOCK10:NM_014689:exon43:c.G4803T:p.K1601N	.	435	1077	9	1	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00679227016762	.	0.000399361	0.0005	0.0001	0	0.0001	0	4.51e-05	0.0011	0.0033	0.000401	62	154602	rs563171508	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0.0001	0	0.0002	4.498e-05	0.0002	0.0032	0.0001	0.0001	6.426e-05	0.0002	0.0033	7.091e-05	5.748e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.47e-05	0	0.0033	0.002	0.72154	D	0.001	0.83351	D	0.996	0.68779	D	0.918	0.65394	D	0.000000	0.84330	D	0.000000	0.995273	0.42618	D	1.84	0.48285	L	3.65	0.04267	T	-4.39	0.78046	D	0.754	0.75283	-1.2355	0.00021	T	0.037	0.15986	T	10	0.011714876	0.00255	T	0.006792	0.17953	T	0.228	0.52768	0.43	0.47843	0.331619326243	0.32766	0.6520677910569415	0.65142	0.4417022315	0.44153	0.868186175823	0.92308	D	0.160402	0.50424	T	-0.444035	0.01224	T	-0.413023	0.31877	T	0.140398492942416	0.16310	T	0.960604	0.85218	D	0.75837505	0.81357	0.6073475	0.77169	0.75837505	0.81359	0.6073475	0.77170	-4.862	0.35305	T	.	.	0.688	0.74435	P	.;.;.	.;.;.	3.513982	0.49220	22.7	0.99903033891818049	0.97426	0.92038	0.54807	D	AEFDGBI	0.542474	0.55820	D	0.614538908895502	0.74094	6.07456	0.61069232687739	0.75715	6.359837	0.98722347822292	0.31214	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.631631	0.49550	0	.	.	6.02	4.21	0.48984	1.218000	0.32071	0.270000	0.16646	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	1.000000	0.97212	0.0:0.854:0.0:0.146	11.952	0.52245	764	0.49969	.;Dedicator of cytokinesis, C-terminal;Dedicator of cytokinesis, 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	.	.	.	.	.	.	.	.	0.02632	1507.33	34	chr2	224796988	.	C	A	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.302;DP=705;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=2.02;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,39:71:99:0|1:224796987_A_G:1521,0,1216:224796987	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|1:78,55:133:99:0|1:232847516_CACA_C:1912,0,2886:232847516	6	3	10	0
chr2	240045709	240045709	G	A	exonic	OR6B3	.	nonsynonymous SNV	OR6B3:NM_173351:exon1:c.C364T:p.R122C	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.00964350842777	.	.	0.0003	0	0	0.0010	0	0.0003	0	0.0004	3.84e-05	1	26028	rs199947939	0.0001	0.0001	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	7.01e-05	0	0.0005	5.699e-05	0.0004	9.95e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0004	0	0	0	0	0.0001	0.0005	0.0004	0.009	0.57480	D	0.0	0.92824	D	0.218	0.30213	B	0.066	0.27432	B	0.000221	0.47681	D	0.000000	0.999815	0.49394	D	2.55	0.74443	M	-1.09	0.77206	T	-6.79	0.92863	D	0.234	0.26354	-0.1151	0.79749	T	0.422	0.76710	T	10	0.18081683	0.33283	T	0.009644	0.25199	T	0.458	0.75619	.	.	0.921780773804	0.92098	0.8418669633792113	0.84146	1.19150631811	0.80291	0.244575038552	0.03218	T	0.118567	0.43948	T	-0.19024	0.22224	T	-0.151359	0.59123	T	0.13862239485144	0.16156	T	0.822518	0.48242	T	0.34686038	0.56821	0.45574844	0.68361	0.34686038	0.56822	0.45574844	0.68362	-6.312	0.48817	T	.	.	0.198	0.42126	B	.;.	.;.	3.905732	0.56920	23.8	0.99772772311824798	0.86088	0.95385	0.64513	D	AEFDGBI	0.644703	0.62086	D	0.156598630829419	0.49124	3.116414	0.224790299335864	0.51227	3.307041	0.94509557818108	0.27645	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.96	3.96	0.45097	3.391000	0.52271	-0.000000	0.13247	0.669000	0.69127	1.000000	0.71638	0.000000	0.08366	0.819000	0.38590	0.0:0.0:1.0:0.0	14.327	0.66084	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1069.33	34	chr2	240045709	.	G	A	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.83;DP=1194;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.26;MQRankSum=0.089;QD=16.2;ReadPosRankSum=-2.789;SOR=1.153	GT:AD:DP:GQ:PL	0/1:30,36:66:99:1083,0,823	18	0	1	0
chr3	4676696	4676696	G	A	exonic	ITPR1	.	nonsynonymous SNV	ITPR1:NM_001168272:exon23:c.G2817A:p.M939I,ITPR1:NM_002222:exon23:c.G2790A:p.M930I,ITPR1:NM_001099952:exon24:c.G2835A:p.M945I,ITPR1:NM_001378452:exon24:c.G2862A:p.M954I	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	290716	not_specified|Autosomal_dominant_cerebellar_ataxia|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.300	0.0205052174552	.	0.000199681	0.0006	0	0	0.0002	0	0	0.0011	0.0042	0.0004657	72	154602	rs543514234	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0030	0	0	0	0.0029	0	0	3.598e-06	0.0002	0.0034	0.0001	0.0001	6.426e-05	0.0002	0.0031	9.147e-05	7.703e-05	0.0019	0.0016	0	0	0	0	0.0012	0	0	0	0	0.0031	0.273	0.15930	T	0.206	0.27056	T	0.005	0.12996	B	0.013	0.16460	B	0.000004	0.62929	D	0.140285	0.995397	0.81001	D	1.32	0.33002	L	-2.68	0.90391	D	-0.89	0.24244	N	0.254	0.28732	-0.2736	0.75714	T	0.501	0.81173	D	10	0.011951476	0.00259	T	0.020505	0.43119	T	0.300	0.62068	0.634	0.77032	0.528307593906	0.52478	0.6798120738536172	0.67920	0.794935810401	0.66003	0.44218108058	0.30876	T	0.456825	0.79544	T	-0.284816	0.10164	T	-0.183051	0.56240	T	0.019786870557817	0.00680	T	0.882612	0.60317	D	0.18580265	0.39959	0.20436007	0.44557	0.22144279	0.44721	0.24248827	0.49669	-4.305	0.29078	T	0.07535422261314331	0.03347	0.151	0.34797	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.552218	0.49937	22.9	0.97220001348232932	0.32896	0.77841	0.38322	D	AEFBHCI	0.172964	0.30002	N	-0.368833192740808	0.26585	1.45207	-0.181241264280874	0.32225	1.831373	0.999863638577468	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.1	4.1	0.47196	2.116000	0.41553	6.506000	0.55795	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	16.866	0.85897	935	0.14827	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1197.33	34	chr3	4676696	.	G	A	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.112;DP=736;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.499;SOR=0.562	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1211,0,1215	18	0	1	0
chr3	10359892	10359892	C	T	exonic	ATP2B2	.	nonsynonymous SNV	ATP2B2:NM_001330611:exon10:c.G1756A:p.V586M,ATP2B2:NM_001363862:exon10:c.G1756A:p.V586M,ATP2B2:NM_001683:exon10:c.G1756A:p.V586M,ATP2B2:NM_001353564:exon11:c.G1756A:p.V586M,ATP2B2:NM_001001331:exon13:c.G1891A:p.V631M	.	104	1408	10	0	0	10	0.00353857	.	.	.	32840	RECLASSIFIED_-_ATP2B2_POLYMORPHISM|ATP2B2-related_disorder|not_provided|Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy	MedGen:C4015888|.|MedGen:C3661900|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.341	.	0.0053	0.00798722	0.0088	0.0023	0.0467	0	0.0014	0.0065	0.0022	0.0036	0.0088615	1370	154602	rs61736451	0.0096	0.0096	0.0099	0.0093	0.0457	0.0095	0.0094	0.0440	0.0434	0.0016	0.0457	0.0003	0.0002	0.0013	0.0036	0.0099	0.0081	0.0039	0.0079	0.0079	0.0077	0.0081	0.0280	0.0075	0.0074	0.0258	0.0249	0.0029	0.0011	0.0280	0.0009	0	0.0012	0	0.0088	0.0071	0.0041	0.242	0.20683	T	0.157	0.31730	T	0.852	0.47012	P	0.425	0.45259	B	0.000006	0.62929	D	0.063307	0.999996	0.58761	A	1.645	0.42016	L	-0.82	0.74053	T	-0.86	0.24026	N	0.395	0.45426	-0.4523	0.70325	T	0.243	0.61166	T	9	0.00996235	0.00223	T	.	.	.	0.341	0.66297	.	.	.	.	0.8330530744206257	0.83264	1.76582254262	0.91186	0.801763296127	0.82231	T	0.266681	0.63865	T	-0.283985	0.10249	T	-0.145663	0.59626	T	0.0119818224087574	0.00188	T	0.885811	0.61165	D	0.1698673	0.37529	0.20088486	0.44042	0.18504024	0.39847	0.18995409	0.42370	-6.919	0.54310	T	0.16272952729859402	0.20006	0.345	0.60619	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.432378	0.47710	22.5	0.998434556513217	0.92403	0.79792	0.39610	D	AEFBI	0.530620	0.55124	D	0.197475479177819	0.51079	3.291961	0.221473599922519	0.51041	3.290122	0.999929019684545	0.46280	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.86	4.86	0.62624	2.192000	0.42281	1.089000	0.23963	0.529000	0.24592	0.995000	0.38783	0.519000	0.25298	0.989000	0.64315	0.0:1.0:0.0:0.0	18.000	0.89118	679	0.60090	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs61736451	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	0.003024	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	1464.33	33	chr3	10359892	.	C	T	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.217;DP=773;ExcessHet=0;FS=2.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.444;SOR=0.902	GT:AD:DP:GQ:PL	0/1:82,64:146:99:1478,0,2001	18	0	1	0
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1818	277.31	105	chr3	11018654	.	A	G	277.31	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-3.101;DP=1834;ExcessHet=0.7564;FS=172.536;InbreedingCoeff=-0.2748;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.95;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,22:112:99:0|1:11018650_C_T:129,0,2663:11018650	7	0	4	8
chr3	12519111	12519111	C	G	exonic	TSEN2	.	nonsynonymous SNV	TSEN2:NM_001145393:exon7:c.C935G:p.T312R,TSEN2:NM_001321279:exon7:c.C935G:p.T312R,TSEN2:NM_001145392:exon8:c.C1013G:p.T338R,TSEN2:NM_001321277:exon8:c.C1013G:p.T338R,TSEN2:NM_001321278:exon8:c.C1013G:p.T338R,TSEN2:NM_025265:exon8:c.C1013G:p.T338R,TSEN2:NM_001145394:exon9:c.C836G:p.T279R	Pontocerebellar hypoplasia type 2B, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	168093	Pontocerebellar_hypoplasia_type_2B|not_provided|Pontoneocerebellar_hypoplasia	MONDO:MONDO:0012890,MedGen:C2676466,OMIM:612389,Orphanet:2524|MedGen:C3661900|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.080	0.0196023200173	0.0008	0.000399361	0.0007	9.61e-05	0.0006	0	0	0.0010	0	0.0009	0.0006662	103	154602	rs145142315	0.0005	0.0005	0.0004	0.0005	0.0029	0.0005	0.0004	0.0019	0.0015	5.974e-05	0.0004	0.0044	0	0	0.0029	0.0004	0.0004	0.0009	0.0005	0.0005	0.0006	0.0004	0.0006	0.0004	0.0003	0.0005	0.0004	7.217e-05	0	0.0004	0.0046	0	0	0	0.0006	0.0005	0.0006	0.004	0.65419	D	0.166	0.30828	T	0.029	0.26116	B	0.072	0.35999	B	0.000759	0.42006	D	0.234404	0.957774	0.26249	N	0.87	0.21467	L	0.53	0.55090	T	-3.5	0.70920	D	0.375	0.41656	-1.0304	0.20325	T	0.069	0.28280	T	10	0.014025748	0.00296	T	0.019602	0.42004	T	0.080	0.23350	.	.	0.426202426774	0.42236	0.48756490736101177	0.48676	0.0368184653303	0.03901	0.364135503769	0.19986	T	0.089693	0.57379	T	-0.374665	0.03365	T	-0.361397	0.37890	T	0.0449270263711947	0.04588	T	0.834817	0.55989	T	0.21933375	0.44463	0.2965419	0.55686	0.19455718	0.41210	0.24949014	0.50521	-11.386	0.83202	D	0.5815352431237928	0.64838	0.196	0.41708	B	.;.;.;.;.;.	.;.;.;.;.;.	3.160432	0.42816	21.6	0.98591187228559085	0.43375	0.10941	0.16299	N	AEFBI	0.056250	0.10384	N	-0.457348436638232	0.23491	1.261914	-0.272800306549809	0.28997	1.621188	0.999855783134033	0.44174	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.39	5.39	0.77615	1.543000	0.35754	3.882000	0.40245	0.596000	0.33519	0.028000	0.20300	0.272000	0.24054	0.997000	0.79791	0.1398:0.6117:0.2485:0.0	9.645	0.39028	740	0.53092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	2843.81	34	chr3	12519111	.	C	G	2843.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.16;SOR=0.795	GT:AD:DP:GQ:PL	1/1:0,101:101:99:2871,303,0	18	1	0	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	0/1:158,63:221:99:.:.:447,0,4143:.	8	0	11	0
chr3	30778259	30778259	C	T	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon14:c.G1312A:p.A438T	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00659389926062	0.0049	0.00199681	0.0037	0.0008	0.0017	0	0.0033	0.0054	0.0066	0.0018	0.0001921	5	26028	rs143542109	0.0052	0.0053	0.0051	0.0052	0.0056	0.0051	0.0050	0.0055	0.0054	0.0005	0.0023	0.0185	0	0.0034	0.0024	0.0056	0.0049	0.0026	0.0042	0.0042	0.0047	0.0037	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0028	0.0202	0	0.0033	0.0034	0.0064	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000786	0.41772	N	0.241129	0.935291	0.26948	N	-0.15	0.04376	N	1.18	0.37746	T	1.62	0.00637	N	0.463	0.49965	-1.0374	0.18109	T	0.020	0.08593	T	10	0.010186911	0.00228	T	0.006594	0.17386	T	0.050	0.13987	.	.	0.0297737177859	0.01360	0.47175260623024184	0.47094	0.0095085458128	0.00866	0.435543239117	0.29967	T	0.008	0.07715	T	-0.540843	0.00331	T	-0.545935	0.17718	T	0.00757071028522608	0.00088	T	0.835117	0.50455	T	0.033086956	0.03459	0.07781945	0.17372	0.033086956	0.03458	0.07781945	0.17371	-2.701	0.07312	T	.	.	0.111	0.21541	B	.	.	2.551693	0.33031	19.22	0.38348791463395926	0.02581	0.77915	0.38368	D	AEFBI	0.174041	0.30115	N	-0.518554976326813	0.21480	1.140251	-0.241176085524428	0.30077	1.690382	0.98632270452313	0.31043	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.02	3.86	0.43689	3.394000	0.52294	3.323000	0.37562	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.7967:0.0:0.2033	9.603	0.38782	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.050000	0.000000	0.003067	0.007576	0.05263	733.81	36	chr3	30778259	.	C	T	733.81	.	AC=2;AF=0.053;AN=38;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.22;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,26:26:78:761,78,0	18	1	0	0
chr3	38122376	38122376	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.C5108T:p.P1703L	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1499	14	0	0	14	0.00464807	.	.	.	2395039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0247226744546	0.0004	0.000599042	0.0007	0	0.0013	0	0	0.0008	0.0022	0.0007	0.0007244	112	154602	rs190570989	0.0006	0.0006	0.0006	0.0007	0.0055	0.0006	0.0006	0.0040	0.0035	5.974e-05	0.0012	0.0021	0	0	0.0055	0.0006	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0010	9.629e-05	0.0340	0.0016	0.0026	0.0002	0	0.0102	0.0007	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.431634	0.04707	N	1.479730	1	0.81001	D	.	.	.	3.39	0.05710	T	-0.8	0.22078	N	0.149	0.15187	-0.8513	0.51878	T	0.006	0.02093	T	9	0.0025693178	0.00039	T	0.024723	0.47706	T	0.054	0.15330	.	.	0.225902525712	0.22197	.	.	.	.	0.236817792058	0.02510	T	.	.	.	-0.466795	0.00890	T	-0.493736	0.22999	T	0.0173109384313287	0.00471	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	-3.195	0.12419	T	.	.	0.078	0.07036	B	.	.	-0.455809	0.02013	0.179	0.8672686767341371	0.16731	0.04633	0.10299	N	AEFDBCI	0.021723	0.01000	N	-1.32448913178581	0.03397	0.1516656	-1.34473369737358	0.03868	0.1813221	0.999820810359557	0.43622	0.372202	0.05800	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	4.86	-4.02	0.03764	-2.868000	0.00791	-8.131000	0.01023	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3094:0.2991:0.1095:0.2821	0.950	0.01287	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.011696	0.000000	0.000000	0.012195	0.007576	0.05263	3944.81	36	chr3	38122376	.	C	T	3944.81	.	AC=2;AF=0.053;AN=38;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.6;SOR=0.778	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3972,363,0	18	1	0	0
chr3	38496510	38496510	T	G	exonic	EXOG	.	nonsynonymous SNV	EXOG:NM_001145464:exon1:c.T143G:p.L48W,EXOG:NM_005107:exon1:c.T143G:p.L48W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0219492464526	.	.	8.314e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs775615944	6.847e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.39820	T	0.207	0.54934	T	0.964	0.55854	D	0.41	0.54860	B	0.054785	0.02065	N	2.108500	1	0.21485	N	1.79	0.46772	L	0.83	0.73949	T	-1.77	0.41809	N	0.203	0.32921	-0.6759	0.61561	T	0.302	0.67344	T	10	0.11931619	0.22576	T	0.021949	0.44785	T	0.227	0.52620	0.381	0.39807	0.338592109245	0.33472	0.5808419902416797	0.58013	0.24751225784	0.27297	0.355312824249	0.18702	T	0.280868	0.65358	T	-0.0584383	0.43153	T	-0.321719	0.42386	T	0.219260051846504	0.21427	T	0.60154	0.22486	T	0.041255124	0.06040	0.103345945	0.24794	0.041255124	0.06040	0.103345945	0.24793	-6.193	0.47866	T	.	.	0.080	0.22861	B	.;.;.	.;.;.	0.125575	0.05223	1.730	0.9174247180199212	0.21040	0.03912	0.09295	N	ALL	0.120408	0.23457	N	-0.72673630848774	0.15273	0.7682593	-0.967671513987168	0.10516	0.5301375	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.72	-5.38	0.02465	-1.231000	0.03049	-2.686000	0.03468	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1365:0.373:0.2787:0.2119	2.282	0.03865	477	0.77662	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2802.81	33	chr3	38496510	.	T	G	2802.81	.	AC=2;AF=0.053;AN=38;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.2;SOR=1.076	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2830,288,0	18	1	0	0
chr3	44499890	44499890	T	C	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.A887G:p.K296R	.	313	1207	2	0	0	2	0.000827815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0292031119403	.	.	4.209e-05	0	0	0	0	4.576e-05	0	0.0001	3.88e-05	6	154602	rs766164160	3.629e-05	3.625e-05	3.271e-05	3.992e-05	0.0009	2.831e-05	2.567e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.248e-05	0.0001	0.0002	4.596e-05	4.593e-05	2.57e-05	6.713e-05	6.535e-05	2.108e-05	1.526e-05	7.97e-06	2.98e-06	4.81e-05	0	6.535e-05	0	0	0	0.0068	1.47e-05	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999817	0.20249	N	.	.	.	2.07	0.20387	T	-1.27	0.31981	N	0.21	0.23380	-1.0676	0.09948	T	0.090	0.34546	T	8	0.1514915	0.28633	T	0.029203	0.51759	D	0.119	0.33137	.	.	0.0884992946249	0.08302	0.004797649383568562	0.00451	0.118245638541	0.13311	0.327452600002	0.14550	T	0.036219	0.24020	T	-0.429087	0.01501	T	-0.617462	0.11384	T	0.320841978226978	0.25856	T	.	.	.	0.16653526	0.36995	0.21492383	0.46062	0.16653526	0.36994	0.21492383	0.46061	-5.508	0.41942	T	.	.	0.081	0.08081	B	.	.	3.700914	0.52779	23.3	0.9979834492135522	0.88372	0.44271	0.27281	N	AEFBHCI	0.625255	0.60852	D	0.149883936041625	0.48808	3.088431	0.0860990869377003	0.43846	2.678152	0.34742034164557	0.19647	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	3.38	3.38	0.37806	4.680000	0.61346	1.484000	0.26842	0.609000	0.47794	1.000000	0.71638	0.039000	0.21534	0.762000	0.36218	0.0:0.0:0.0:1.0	11.486	0.49604	323	0.86843	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	.	.	.	.	.	.	.	.	0.05263	4255.81	41	chr3	44499890	.	T	C	4255.81	.	AC=2;AF=0.053;AN=38;DP=937;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.18;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4283,422,0	18	1	0	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M,LTF:NM_001321121:exon11:c.G1345A:p.V449M,LTF:NM_002343:exon11:c.G1351A:p.V451M,LTF:NM_001321122:exon14:c.G1312A:p.V438M	.	427	1036	57	2	0	61	0.0285982	.	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-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	0.013595	0.000000	0.006793	0.017544	0.000000	0.017241	0.036585	0.015152	0.07895	3721.77	35	chr3	46446446	.	C	T	3721.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.01;DP=777;ExcessHet=0;FS=1.211;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.224;SOR=0.695	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2366,240,0	17	1	1	0
chr3	48180744	48180744	G	T	exonic	CDC25A	.	nonsynonymous SNV	CDC25A:NM_001789:exon6:c.C526A:p.Q176K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0079572607889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	1.0	0.01155	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.050406	0.999194	0.81001	D	2.78	0.81115	M	1.8	0.25344	T	-0.8	0.28290	N	0.537	0.56489	-1.0178	0.24431	T	0.150	0.47822	T	10	0.5686978	0.65196	D	0.007957	0.21110	T	0.243	0.54921	0.713	0.84872	0.572846908325	0.56951	0.277621713704435	0.27675	1.01917520793	0.75045	0.527014374733	0.42614	T	0.157438	0.50004	T	0.0674912	0.60542	T	-0.14083	0.60045	T	0.853409726973628	0.50462	D	0.919408	0.70943	D	0.40412134	0.61017	0.27501974	0.53435	0.40412134	0.61017	0.27501974	0.53434	-5.745	0.44092	T	.	.	0.134	0.35477	B	.;.	.;.	4.014072	0.59233	24.1	0.99036978852543867	0.50939	0.95254	0.64011	D	AEFDBI	0.667659	0.63570	D	0.712984003200585	0.80482	7.304259	0.722819735248964	0.84111	8.201978	0.999999999648052	0.74766	0.645754	0.44609	0	0.516746	0.08562	0	0.696144	0.63334	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	5.791000	0.68692	11.575000	0.93308	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.854	0.78740	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1884.81	34	chr3	48180744	.	G	T	1884.81	.	AC=2;AF=0.053;AN=38;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.45;SOR=0.966	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1912,192,0	18	1	0	0
chr3	48765017	48765017	C	T	exonic	PRKAR2A	.	nonsynonymous SNV	PRKAR2A:NM_001321989:exon7:c.G776A:p.R259H,PRKAR2A:NM_001321982:exon8:c.G860A:p.R287H,PRKAR2A:NM_001321983:exon8:c.G860A:p.R287H,PRKAR2A:NM_004157:exon8:c.G860A:p.R287H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.117853535576	.	.	4.148e-05	0	0	0	0	1.512e-05	0	0.0002	3.23e-05	5	154602	rs779197243	2.532e-05	2.531e-05	1.362e-05	3.713e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0002	0	0	0	0	0	0.0002	7.196e-06	1.656e-05	0.0003	5.252e-05	5.25e-05	2.57e-05	8.055e-05	0.0010	2.555e-05	1.829e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0010	0.564	0.36912	T	0.213	0.31225	T	0.175	0.28858	B	0.076	0.28435	B	0.000002	0.62929	D	0.060923	1	0.81001	D	1.7	0.43825	L	-3.07	0.92508	D	-1.98	0.45769	N	0.453	0.49237	0.231	0.86429	D	0.714	0.90170	D	10	0.34177417	0.51221	T	0.117854	0.79774	D	0.553	0.81544	0.385	0.40460	0.888306609885	0.88720	0.6867228884755804	0.68612	1.19765383722	0.80452	0.449647843838	0.31896	T	0.658016	0.89702	D	-0.014774	0.49595	T	0.00068075	0.70380	D	0.562318384647369	0.34942	D	0.975402	0.96808	D	0.13516031	0.31379	0.10407039	0.24986	0.13516031	0.31379	0.10407039	0.24985	-5.628	0.43048	T	.	.	0.115	0.33846	B	.;.;.	.;.;.	4.113228	0.61418	24.3	0.99717115208008722	0.81773	0.95644	0.65551	D	AEFBI	0.499431	0.53312	N	0.131601516158048	0.47942	3.012946	0.213589006188179	0.50601	3.250423	0.996022416068224	0.34476	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.8	3.91	0.44383	1.939000	0.39841	4.784000	0.44855	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.985000	0.61073	0.0:0.9229:0.0:0.0771	13.450	0.60619	1	0.99630	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-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	.	.	.	.	.	.	.	.	0.05263	1966.81	36	chr3	48765017	.	C	T	1966.81	.	AC=2;AF=0.053;AN=38;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.36;SOR=0.849	GT:AD:DP:GQ:PL	1/1:0,67:67:99:1994,201,0	18	1	0	0
chr3	49013066	49013066	G	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.G1454A:p.R485H,WDR6:NM_001320547:exon2:c.G1379A:p.R460H,WDR6:NM_018031:exon2:c.G1532A:p.R511H	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.143908924888	0.0008	0.000798722	0.0011	0.0004	0.0005	0	0.0003	0.0014	0.0011	0.0012	0.0010543	163	154602	rs142520902	0.0012	0.0012	0.0012	0.0012	0.0080	0.0011	0.0011	0.0062	0.0055	0.0006	0.0009	0.0003	2.523e-05	0.0006	0.0080	0.0012	0.0014	0.0016	0.0010	0.0010	0.0010	0.0010	0.0021	0.0009	0.0008	0.0011	0.0009	0.0005	0	0.0015	0	0	0.0006	0.0102	0.0012	0.0033	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.88582	D	0.000000	0.84330	D	0.000000	0.999858	0.81001	D	1.79	0.46772	L	-0.22	0.90083	T	-4.71	0.79915	D	0.711	0.71765	0.782	0.94191	D	0.830	0.94313	D	10	0.16239479	0.30435	T	0.143909	0.82620	D	0.684	0.88443	.	.	0.920913373336	0.92011	0.8852919513013255	0.88498	0.858137607656	0.68846	0.743246555328	0.73450	T	0.152551	0.67814	T	-0.105573	0.35500	T	0.0454957	0.73287	D	0.0458476212297395	0.04755	T	0.877412	0.59112	D	0.45112568	0.64112	0.23708549	0.48997	0.45112568	0.64113	0.23708549	0.48996	-10.903	0.79123	D	.	.	0.895	0.82448	P	.;.;.;.	.;.;.;.	5.028960	0.83633	28.1	0.99936757636496798	0.99621	0.98134	0.79889	D	AEFDBCI	0.925463	0.90505	D	0.827740561056247	0.87805	9.347594	0.82317825321104	0.91357	10.845	0.999999999999895	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.053000	0.93310	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.378	0.94508	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.011696	0.000000	0.000000	0.003049	0.003788	0.05263	4719.81	35	chr3	49013066	.	G	A	4719.81	.	AC=2;AF=0.053;AN=38;DP=959;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.47;SOR=0.927	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4747,450,0	18	1	0	0
chr3	49421550	49421550	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164711:exon2:c.G113A:p.R38Q,AMT:NM_000481:exon3:c.G281A:p.R94Q,AMT:NM_001164710:exon3:c.G281A:p.R94Q,AMT:NM_001164712:exon3:c.G281A:p.R94Q	Glycine encephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2091466	Glycine_encephalopathy|AMT-related_disorder	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.639	0.105863090118	7.7e-05	.	6.59e-05	0.0002	8.637e-05	0	0	1.498e-05	0	0.0002	5.82e-05	9	154602	rs368129012	3.762e-05	3.762e-05	2.995e-05	4.538e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0	0	0.0002	2.158e-05	3.312e-05	0.0003	7.221e-05	7.217e-05	5.139e-05	9.397e-05	0.0010	3.968e-05	3.125e-05	0.0004	0.0003	7.216e-05	0	6.537e-05	0	0	0	0	2.94e-05	0	0.0010	0.438	0.11370	T	0.575	0.09588	T	0.999	0.77913	D	0.837	0.59984	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.99	0.85699	M	-0.98	0.83737	T	-2.45	0.53577	N	0.511	0.54234	0.479	0.90252	D	0.715	0.90207	D	10	0.71646357	0.73378	D	0.105863	0.78119	D	0.639	0.86232	.	.	0.946859879238	0.94630	0.7796854547001408	0.77919	0.834789737378	0.67770	0.508735775948	0.40045	T	0.915339	0.98439	D	0.0762887	0.61604	D	0.151242	0.80262	D	0.926009118556976	0.58804	D	0.905909	0.67223	D	0.7567677	0.81263	0.5836407	0.75859	0.7567677	0.81264	0.5836407	0.75860	-8.301	0.69726	D	0.7832347692386288	0.86283	0.197	0.53906	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.398179	0.90409	31	0.99930541174085252	0.99334	0.98115	0.79725	D	ALL	0.909717	0.86670	D	0.813320882066434	0.86932	9.046778	0.791082849423455	0.89167	9.864859	1.0	0.98316	0.542737	0.22433	0	0.601644	0.50151	0	0.685571	0.62057	0	0.695668	0.68540	0	.	.	5.41	5.41	0.78313	5.346000	0.65762	7.678000	0.65147	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.041	0.86363	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2863.81	46	chr3	49421550	.	C	T	2863.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.52;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,97:97:99:2891,291,0	18	1	0	0
chr3	52396383	52396383	C	T	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon71:c.C11275T:p.R3759C	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.0780119977188	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs540632160	4.204e-06	6.156e-06	8.327e-06	0	5.338e-05	1.51e-06	9.9e-07	8.84e-06	3.31e-06	3.07e-05	0	0	5.338e-05	0	0	9.128e-07	1.691e-05	1.23e-05	1.314e-05	1.313e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.4	0.33630	T	-7.49	0.95015	D	0.97	0.98065	0.184	0.85635	D	0.384	0.73973	T	10	0.8924437	0.88590	D	0.078012	0.72905	D	0.551	0.81427	.	.	0.72188249907	0.71942	0.8943862598346876	0.89409	0.681907863845	0.60075	0.847870707512	0.89292	D	.	.	.	0.255078	0.79073	D	0.128625	0.78802	D	0.999547302722931	0.97846	D	0.984402	0.94639	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.755	0.75291	P	.	.	6.357842	0.95076	34	0.99922860756898146	0.98852	0.96930	0.71719	D	AEFBI	0.585702	0.58402	D	0.804289644564848	0.86373	8.864857	0.659205729038897	0.79298	7.052911	0.999650465455725	0.41424	0.660377	0.49826	0	0.694456	0.67091	0	0.608075	0.38828	0	0.664235	0.64389	0	.	.	4.35	4.35	0.51454	2.951000	0.48782	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	17.068	0.86439	68	0.97118	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1917.81	38	chr3	52396383	.	C	T	1917.81	.	AC=2;AF=0.053;AN=38;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.96;SOR=1.46	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1945,180,0	18	1	0	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|1:94,30:124:99:0|1:75730450_C_T:896,0,3857:75730450	0	0	19	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,16:135:99:0|1:75736891_G_A:304,0,4884:75736891	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,17:156:99:0|1:75736891_G_A:295,0,5785:75736891	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,17:160:99:0|1:75736891_G_A:283,0,5947:75736891	1	0	18	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	0/1:147,26:173:99:.:.:136,0,4953:.	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|1:143,35:178:99:0|1:75737092_C_T:1040,0,5877:75737092	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|1:147,35:182:99:0|1:75737092_C_T:1027,0,6046:75737092	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|1:152,35:187:99:0|1:75737092_C_T:1012,0,6277:75737092	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|1:154,34:188:99:0|1:75737092_C_T:964,0,6364:75737092	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|1:146,22:168:99:0|1:75737092_C_T:484,0,6033:75737092	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	0/1:115,33:148:99:.:.:1028,0,4658:.	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|1:140,40:180:99:0|1:75737590_A_G:1232,0,5754:75737590	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|1:151,46:197:99:0|1:75737590_A_G:1408,0,6202:75737590	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|1:158,49:207:99:0|1:75737590_A_G:1472,0,6487:75737590	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|1:152,48:200:99:0|1:75737651_G_A:1558,0,5932:75737651	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|1:148,51:199:99:0|1:75737676_A_T:1691,0,6061:75737676	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|1:194,37:231:99:0|1:75737814_C_T:956,0,7442:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,18:200:99:0|1:75737881_T_C:170,0,7393:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,16:198:99:0|1:75737881_T_C:101,0,7539:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,14:194:46:0|1:75737881_T_C:46,0,7469:75737881	1	0	18	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	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	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:121,19:140:99:187,0,3570	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:50,16:66:99:314,0,1560	1	0	18	0
chr3	81535255	81535255	A	C	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon14:c.T1874G:p.F625C	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	293011	not_provided|Glycogen_storage_disease,_type_IV|Adult_polyglucosan_body_disease	MedGen:C3661900|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.873	0.273817553358	.	.	3.398e-05	0	0	0	0	6.126e-05	0	0	2.59e-05	4	154602	rs769567764	1.233e-05	1.231e-05	9.544e-06	1.515e-05	5.402e-06	7.71e-06	6.36e-06	1.94e-06	1.28e-06	0	0	0.0002	0	0	0	5.402e-06	0.0001	0	6.581e-06	6.567e-06	0	1.347e-05	6.566e-05	0	0	.	.	0	0	6.566e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	2.67	0.78151	M	-1.25	0.79072	T	-6.83	0.93020	D	0.895	0.90138	0.385	0.88872	D	0.639	0.87372	D	10	0.940312	0.93357	D	0.273818	0.89979	D	0.873	0.96207	0.732	0.86547	0.977972772946	0.97773	0.8600987526389777	0.85973	0.270586652875	0.29581	0.740214943886	0.73005	T	0.742104	0.92865	D	0.280145	0.81328	D	0.272289	0.86703	D	0.97138386964798	0.69297	D	0.975402	0.91601	D	0.97184104	0.98429	0.9342301	0.97384	0.97184104	0.98429	0.9342301	0.97384	-8.949	0.67368	D	0.5754126061973124	0.64240	0.412	0.60968	A	.;.	.;.	4.985347	0.82613	27.8	0.99458943291077739	0.65684	0.99123	0.91564	D	AEBI	0.935135	0.92955	D	0.828475658996745	0.87851	9.363237	0.798221271019903	0.89669	10.07138	0.999999949828538	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	8.829000	0.91674	11.167000	0.87842	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	1.0:0.0:0.0:0.0	16.177	0.81677	645	0.63593	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all beta	.	.	.	.	.	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	1651.33	38	chr3	81535255	.	A	C	1651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=788;ExcessHet=0;FS=1.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=1.5;SOR=0.491	GT:AD:DP:GQ:PL	0/1:37,65:102:99:1665,0,711	18	0	1	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3550.9	41	chr3	98133456	.	ACCCC	A	3550.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,29:112:99:0|1:98133456_ACCCC_A:435,0,3221:98133456	14	0	5	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|1:83,29:112:99:0|1:98133456_ACCCC_A:435,0,3221:98133456	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|1:83,29:112:99:0|1:98133456_ACCCC_A:435,0,3221:98133456	4	0	7	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	4817.21	59	chr3	98133460	.	C	CGGGG	4817.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,22:108:99:.:.:399,0,3161:.	7	0	5	7
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	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	.	.	.	.	.	.	.	.	0.02778	2226.54	47	chr3	98133463	.	C	T	2226.54	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,22:112:99:.:.:387,0,3248:.	17	0	1	1
chr3	98149398	98149398	A	T	exonic	OR5H14	.	nonsynonymous SNV	OR5H14:NM_001005514:exon1:c.A13T:p.N5Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00630487212058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.000372	0.45194	D	0.000000	1	0.08975	N	3.6	0.93737	H	2.47	0.14783	T	-7.71	0.95665	D	0.6	0.61849	-0.9054	0.47401	T	0.163	0.49881	T	10	0.5401185	0.63671	D	0.006305	0.16551	T	0.094	0.27141	0.5	0.59147	0.226586394389	0.22295	0.12827193926158556	0.12752	0.0906683578425	0.10232	0.333424270153	0.15451	T	0.090425	0.38583	T	-0.0966685	0.36976	T	-0.376634	0.36116	T	0.997502744197845	0.91716	D	0.90141	0.65732	D	0.69060284	0.77544	0.5455719	0.73732	0.69060284	0.77546	0.5455719	0.73732	-9.901	0.73316	D	.	.	0.194	0.41480	B	.;.	.;.	3.760212	0.53945	23.4	0.98758353337374116	0.45770	0.79055	0.39103	D	AEFI	0.141129	0.26322	N	0.255694743139305	0.53922	3.559118	-0.0297755432139627	0.38375	2.260117	1.83599889239543E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.49	2.49	0.29274	3.611000	0.53881	.	.	0.476000	0.22017	0.784000	0.29521	0.697000	0.26210	0.089000	0.17737	1.0:0.0:0.0:0.0	8.422	0.31866	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3209.33	39	chr3	98149398	.	A	T	3209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.739;DP=1792;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.02;MQRankSum=1.84;QD=13.05;ReadPosRankSum=2.43;SOR=0.558	GT:AD:DP:GQ:PL	0/1:126,120:246:99:3223,0,3502	18	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.05263	5457.83	33	chr3	98283014	.	A	G	5457.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.279;DP=1714;ExcessHet=0.119;FS=1.094;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.59;SOR=0.784	GT:AD:DP:GQ:PL	0/1:124,117:241:99:2784,0,3099	17	0	2	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,12:31:99:.:.:100,0,307:.	7	0	11	1
chr3	101366549	101366549	A	G	exonic	SENP7	.	nonsynonymous SNV	SENP7:NM_001282803:exon6:c.T707C:p.I236T,SENP7:NM_001077203:exon8:c.T1004C:p.I335T,SENP7:NM_001282801:exon8:c.T1001C:p.I334T,SENP7:NM_001282802:exon8:c.T1100C:p.I367T,SENP7:NM_020654:exon9:c.T1199C:p.I400T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00199510547226	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.059e-05	1.94e-05	3	154602	rs772499577	1.026e-05	1.026e-05	5.446e-06	1.513e-05	0.0003	6.16e-06	4.89e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.095e-06	1.656e-05	3.478e-05	1.314e-05	1.313e-05	0	2.691e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	1.0	0.04728	T	1.0	0.09298	T	0.0	0.02946	B	0.0	0.04355	B	0.591292	0.11047	N	0.836031	1	0.08975	N	-0.895	0.01383	N	2.29	0.17113	T	0.43	0.03297	N	0.006	0.00527	-0.9676	0.37693	T	0.010	0.03719	T	10	0.029911578	0.01117	T	0.001995	0.03588	T	0.004	0.00165	0.185	0.09388	0.0675242888579	0.06100	0.039968995342167926	0.03942	0.140071736936	0.15782	0.27424159646	0.06702	T	2.83E-4	0.01384	T	-0.529254	0.00388	T	-0.901159	0.00494	T	0.019571753599083	0.00660	T	0.594141	0.21965	T	0.03002865	0.02596	0.035197467	0.02727	0.03002865	0.02596	0.035197467	0.02726	-2.716	0.07567	T	.	.	0.047	0.00130	B	.;.;.;.;.	.;.;.;.;.	-1.071827	0.00675	0.019	0.12759056678847575	0.00231	0.00740	0.03091	N	AEFGBI	0.013237	0.00169	N	-2.04458709286432	0.00169	0.007256682	-1.99103389525849	0.00320	0.01412882	3.75003092740647E-4	0.06745	0.651	0.46895	0	0.633656	0.55848	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.66	-4.1	0.03674	-1.385000	0.02646	-0.169000	0.11245	-1.758000	0.00680	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2119:0.1814:0.4615:0.1452	3.585	0.07518	216	0.91608	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1766.33	38	chr3	101366549	.	A	G	1766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=775;ExcessHet=0;FS=4.211;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.128;SOR=0.42	GT:AD:DP:GQ:PL	0/1:57,74:131:99:1780,0,1292	18	0	1	0
chr3	107747993	107747993	C	T	exonic	BBX	.	nonsynonymous SNV	BBX:NM_001142568:exon9:c.C779T:p.A260V,BBX:NM_001276286:exon9:c.C779T:p.A260V,BBX:NM_020235:exon9:c.C779T:p.A260V	.	432	1076	14	0	0	14	0.00646353	.	.	.	697736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0012	0.00119808	0.0026	0.0005	0.0008	0	0.0008	0.0017	0.0055	0.0110	0.0022703	351	154602	rs150121801	0.0019	0.0019	0.0016	0.0022	0.0112	0.0018	0.0018	0.0106	0.0104	8.973e-05	0.0009	0.0024	2.524e-05	0.0004	0.0049	0.0014	0.0025	0.0112	0.0011	0.0011	0.0010	0.0012	0.0097	0.0010	0.0009	0.0075	0.0067	0.0001	0.0033	0.0008	0.0017	0	0.0003	0.0068	0.0012	0.0024	0.0097	0.275	0.46513	T	0.362	0.38160	T	0.05	0.28155	B	0.053	0.38054	B	0.671593	0.10337	N	0.864450	0.999996	0.08975	N	0.345	0.11182	N	-4.68	0.98998	D	-1.22	0.34795	N	0.109	0.13911	0.703	0.93215	D	0.910	0.97029	D	10	0.003517747	0.00063	T	.	.	.	0.270	0.58507	.	.	0.688640784998	0.68597	0.19134871666215023	0.19052	0.152041658609	0.17156	0.272841215134	0.06514	T	0.018017	0.14600	T	-0.259374	0.12973	T	-0.134961	0.60551	T	0.0108842420833424	0.00155	T	0.771723	0.40231	T	0.030109227	0.02617	0.041255217	0.04647	0.030109227	0.02617	0.041255217	0.04647	-2.96	0.09757	T	.	.	0.077	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	0.940276	0.13156	9.660	0.99823293746469866	0.90590	0.03715	0.09002	N	AEFBI	0.032030	0.03539	N	-0.681523254211276	0.16548	0.8441102	-0.672924091218589	0.17640	0.9388232	0.047564392244602	0.14735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.79	0.992	0.18937	0.460000	0.21635	0.907000	0.22596	0.599000	0.40250	0.015000	0.19116	0.992000	0.31684	0.761000	0.36181	0.0:0.5723:0.0:0.4277	7.584	0.27150	822	0.40702	.;HMG box transcription factor BBX, domain of unknown function DUF2028;HMG box transcription factor BBX, domain of unknown function DUF2028;.;HMG box transcription factor BBX, domain of unknown function DUF2028;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.005848	0.000000	0.000000	0.012195	0.011364	0.02632	700.33	34	chr3	107747993	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.392;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=2.77;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,32:68:99:714,0,900	18	0	1	0
chr3	111967711	111967711	G	A	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_145753:exon14:c.G3073A:p.E1025K,PHLDB2:NM_001134437:exon15:c.G3154A:p.E1052K,PHLDB2:NM_001134438:exon15:c.G3202A:p.E1068K,PHLDB2:NM_001134439:exon15:c.G3202A:p.E1068K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0506497223554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.65419	D	0.0	0.92824	D	0.999	0.77913	D	0.982	0.77487	D	0.000001	0.62929	D	0.056319	1	0.81001	D	2.79	0.81396	M	0.51	0.55439	T	-3.59	0.70067	D	0.413	0.58458	-0.3725	0.72885	T	0.359	0.72147	T	10	0.45332956	0.58835	T	0.05065	0.64333	D	0.284	0.60219	0.213	0.13210	0.807217496071	0.80541	0.5369428931450627	0.53619	0.351707542515	0.37009	0.670667409897	0.62933	T	0.192499	0.61553	T	0.0682055	0.60630	T	-0.139804	0.60135	T	0.994358956813812	0.85594	D	0.941906	0.90967	D	0.5974969	0.72556	0.4405093	0.67367	0.5974969	0.72557	0.4405093	0.67368	-13.992	0.93786	D	.	.	0.532	0.76533	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.644178	0.92763	33	0.99937172762660531	0.99661	0.98083	0.79454	D	AEFGBHCIJ	0.940346	0.94217	D	0.905977567810262	0.92049	11.20566	0.890517791386103	0.95147	13.35266	1.0	0.98316	0.730579	0.87903	0	0.688826	0.66785	0	0.650271	0.49498	0	0.648885	0.59868	0	.	.	5.57	5.57	0.84021	9.179000	0.93989	11.874000	0.98652	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.693	0.91550	580	0.69689	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	606.33	44	chr3	111967711	.	G	A	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.09;DP=723;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-2.021;SOR=0.877	GT:AD:DP:GQ:PL	0/1:48,27:75:99:620,0,1230	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	0/1:79,37:121:99:117,0,1480	4	0	13	2
chr3	127018321	127018321	C	T	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon19:c.C3688T:p.P1230S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0519613252776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.064	0.44905	T	0.845	0.46707	P	0.794	0.57880	P	0.000014	0.62929	D	0.000000	0.999944	0.51968	D	2.905	0.84014	M	0.53	0.55090	T	-4.02	0.74269	D	0.843	0.83885	-0.1957	0.77782	T	0.351	0.71478	T	10	0.89129347	0.88472	D	0.051961	0.64878	D	0.367	0.68670	0.689	0.82653	0.603713162293	0.60054	0.8076294725806723	0.80717	2.12076249528	0.95014	0.693473875523	0.66205	T	0.597548	0.87053	D	0.0209648	0.54511	T	-0.207662	0.53917	T	0.994094789028168	0.85193	D	0.954105	0.82551	D	0.27569216	0.50632	0.23120733	0.48245	0.27569216	0.50632	0.23120733	0.48244	-13.029	0.89483	D	.	.	0.932	0.85202	P	.	.	3.936421	0.57567	23.9	0.99889065716388359	0.96359	0.97640	0.76089	D	AEFBCI	0.837258	0.75491	D	0.524966389171134	0.68570	5.23548	0.408515769337908	0.62094	4.419241	0.999999569992554	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.18	4.18	0.48473	7.879000	0.85694	7.599000	0.61500	0.545000	0.25583	1.000000	0.71638	0.928000	0.28476	0.352000	0.25704	0.0:1.0:0.0:0.0	15.650	0.76836	938	0.14419	IPT 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	613.33	35	chr3	127018321	.	C	T	613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.798;DP=686;ExcessHet=0;FS=1.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.829;SOR=0.906	GT:AD:DP:GQ:PL	0/1:34,25:59:99:627,0,915	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	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	0/1:57,18:75:99:.:.:227,0,1263:.	3	0	16	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,7:55:7:.:.:269,0,1481:.	10	0	6	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|1:41,15:56:99:0|1:130421337_T_C:356,0,1460:130421337	3	0	13	3
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,46:123:99:0|1:155853644_G_C:628,0,2380:155853644	8	0	10	1
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|1:200,25:225:99:0|1:157381266_G_C:260,0,8201:157381266	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|1:198,26:224:99:0|1:157381266_G_C:269,0,8130:157381266	9	0	7	3
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5885.78	34	chr3	157381271	.	AGGTG	A	5885.78	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,26:226:99:0|1:157381266_G_C:263,0,8227:157381266	17	0	2	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	0/1:176,26:215:99:.:.:392,0,8103:.	5	0	6	8
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_001167912:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_024621:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	1702.6	48	chr3	157381275	.	G	GCCCC	1702.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,26:216:99:0|1:157381266_G_C:293,0,7824:157381266	15	0	2	2
chr3	170998046	170998046	G	C	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_001278658:exon10:c.C1075G:p.L359V,SLC2A2:NM_001278659:exon10:c.C913G:p.L305V,SLC2A2:NM_000340:exon11:c.C1432G:p.L478V	Fanconi-Bickel syndrome, Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	293779	SLC2A2-related_disorder|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	.|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|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	.	.	.	.	.	.	.	.	0.090	0.00890319125531	0.0011	0.000399361	0.0010	0.0002	0	0	0.0018	0.0011	0.0011	0.0023	0.0009508	147	154602	rs5397	0.0013	0.0013	0.0013	0.0013	0.0022	0.0012	0.0012	0.0019	0.0018	0.0002	0.0001	0	0	0.0011	0.0005	0.0014	0.0013	0.0022	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0007	0.0014	0.0011	0.0002	0	0.0004	0	0	0.0013	0	0.0014	0.0005	0.0025	0.357	0.12032	T	0.737	0.05036	T	0.043	0.21573	B	0.04	0.23831	B	0.009530	0.30318	N	0.345965	0.928115	0.36885	D	0.49	0.13296	N	-0.96	0.75553	T	-0.28	0.11547	N	0.075	0.04913	-1.0613	0.11434	T	0.132	0.44425	T	10	0.010517448	0.00234	T	0.008903	0.23463	T	0.090	0.26093	.	.	0.516162830352	0.51260	0.4817847910657274	0.48098	0.166197381552	0.18754	0.449450194836	0.31869	T	0.238634	0.60658	T	-0.486422	0.00680	T	-0.477655	0.24696	T	0.00428323383558468	0.00046	T	0.813419	0.46649	T	0.0684418	0.14910	0.040046085	0.04240	0.05942514	0.12074	0.051368464	0.08253	-3.233	0.12888	T	0.10844219643555432	0.08941	0.066	0.02173	B	.	.	0.835277	0.12070	8.622	0.95680526812552436	0.27539	0.43429	0.27096	N	ALL	0.734619	0.68069	D	-0.912838903687013	0.10541	0.5041921	-0.809780062119685	0.14259	0.7441296	0.999999981263485	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	6.17	1.36	0.21139	0.127000	0.15617	0.142000	0.15184	0.676000	0.76740	0.029000	0.20367	0.001000	0.17328	0.992000	0.67800	0.2423:0.2193:0.5384:0.0	6.334	0.20493	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	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	0.003788	0.02632	1542.33	40	chr3	170998046	.	G	C	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.256;DP=797;ExcessHet=0;FS=5.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.072;SOR=0.36	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1556,0,1493	18	0	1	0
chr3	175097119	175097119	G	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon2:c.G373A:p.V125I	.	434	1053	34	1	0	36	0.0168067	.	.	.	2825066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00447888518192	0.0035	0.00259585	0.0038	0.0011	0.0018	0.0001	0.0011	0.0040	0.0078	0.0083	0.0037063	573	154602	rs150099163	0.0048	0.0049	0.0047	0.0050	0.0205	0.0047	0.0047	0.0175	0.0163	0.0007	0.0018	0.0010	0.0001	0.0008	0.0205	0.0052	0.0048	0.0085	0.0027	0.0027	0.0027	0.0026	0.0066	0.0025	0.0024	0.0048	0.0042	0.0009	0	0.0014	0.0003	0.0002	0.0010	0.0102	0.0043	0.0038	0.0066	0.771	0.06361	T	0.854	0.03467	T	0.0	0.02946	B	0.0	0.01387	B	0.105542	0.19653	N	0.429836	0.998641	0.22015	N	-0.345	0.03330	N	1.55	0.32238	T	0.77	0.04533	N	0.055	0.02658	-0.9998	0.29973	T	0.025	0.10733	T	10	0.0059213936	0.00133	T	0.004479	0.11000	T	0.015	0.02232	.	.	0.252681307341	0.24864	0.21323671557192497	0.21239	0.00554430502613	0.00483	0.357524544001	0.19025	T	5.84E-4	0.00238	T	-0.72242	0.00027	T	-0.804651	0.01788	T	0.000693492399160385	0.00006	T	.	.	.	0.0219331	0.00824	0.025898132	0.00653	0.0219331	0.00824	0.025898132	0.00653	-3.954	0.23113	T	.	.	0.060	0.01348	B	.;.	.;.	1.754489	0.22316	15.57	0.7172783565237294	0.09728	0.20340	0.21005	N	AEFI	0.018937	0.00614	N	-1.03140614615359	0.07958	0.3714528	-0.89515998452017	0.12208	0.6266306	1.16264531551251E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.72	0.72	0.17368	0.118000	0.15436	0.831000	0.21948	-0.172000	0.11096	0.716000	0.28781	0.308000	0.24257	0.862000	0.40904	0.4399:0.3354:0.0925:0.1322	3.534	0.07341	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	1	0	0.020645	0.010101	0.021739	0.043860	0.000000	0.051724	0.006098	0.022727	0.02632	2198.33	158	chr3	175097119	.	G	A	2198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1739;ExcessHet=0;FS=6.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.416;SOR=0.392	GT:AD:DP:GQ:PL	0/1:104,88:192:99:2212,0,2469	18	0	1	0
chr3	184368264	184368264	T	A	exonic	POLR2H	.	nonsynonymous SNV	POLR2H:NM_001278698:exon5:c.T487A:p.L163I,POLR2H:NM_001346879:exon5:c.T379A:p.L127I	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0054	0.00299521	0.0059	0.0020	0.0038	0	0.0032	0.0090	0.0023	0.0013	0.0055756	862	154602	rs41543313	0.0064	0.0064	0.0067	0.0062	0.0077	0.0063	0.0063	0.0076	0.0075	0.0012	0.0036	0.0005	0	0.0024	0.0040	0.0077	0.0061	0.0011	0.0047	0.0047	0.0054	0.0040	0.0081	0.0044	0.0043	0.0076	0.0073	0.0013	0.0055	0.0046	0.0003	0	0.0020	0.0102	0.0081	0.0038	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.14	0.09135	N	0.203	0.22486	-0.3618	0.73210	T	0.222	0.58498	T	5	0.004061103	0.00079	T	.	.	.	0.079	0.23065	.	.	0.243187853663	0.23924	0.30279045500957597	0.30192	.	.	.	.	.	.	.	.	-0.528573	0.00392	T	-0.525354	0.19754	T	0.0257210508345898	0.01369	T	0.259974	0.04152	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.083	0.09288	B	.	.	0.110803	0.05102	1.635	0.86846517202047036	0.16812	0.39277	0.26177	N	AEBCI	0.070818	0.14074	N	-0.427388170555457	0.24512	1.324108	-0.53313488273555	0.21255	1.149004	0.999997583904363	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.74	-6.8	0.01548	-0.521000	0.06331	-1.324000	0.05715	-0.122000	0.13826	0.163000	0.23839	0.000000	0.08366	0.995000	0.73285	0.0:0.0639:0.6444:0.2917	13.273	0.59607	881	0.29269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	983.33	33	chr3	184368264	.	T	A	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=705;ExcessHet=0;FS=2.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-0.167;SOR=0.421	GT:AD:DP:GQ:PL	0/1:27,34:61:99:997,0,794	18	0	1	0
chr3	187235841	187235841	C	T	exonic	MASP1	.	nonsynonymous SNV	MASP1:NM_139125:exon11:c.G2030A:p.R677H	3MC syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0319820869359	.	.	8.243e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs768033628	8.209e-06	8.209e-06	2.722e-06	1.375e-05	5.797e-05	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	5.038e-05	0	0	3.597e-06	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.166	0.30926	T	0.024	0.19075	B	0.019	0.18783	B	0.255922	0.15412	N	0.657841	0.951633	0.81001	D	.	.	.	-3.31	0.93835	D	-2.01	0.46337	N	0.201	0.22228	-0.5646	0.66227	T	0.630	0.87005	D	10	0.22566846	0.39402	T	0.031982	0.53925	D	0.325	0.64725	.	.	0.870287601984	0.86902	0.382936870300514	0.38208	0.150861580423	0.17018	0.240948051214	0.02876	T	.	.	.	-0.232761	0.16284	T	-0.390594	0.34481	T	0.157156556844711	0.17658	T	0.738226	0.35986	T	.	.	.	.	.	.	.	.	-6.042	0.46629	T	.	.	0.068	0.02670	B	.;.	.;.	1.448966	0.18694	13.88	0.956966860584476	0.27582	0.66716	0.33175	D	AEFBHCI	0.443694	0.50090	N	-0.694703646745514	0.16171	0.8215659	-0.662000777287876	0.17914	0.9546846	0.999662674558037	0.41534	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	-4.41	0.03339	0.581000	0.23520	-0.161000	0.11322	-0.182000	0.10109	0.996000	0.39380	0.459000	0.24993	0.966000	0.53164	0.1006:0.4663:0.0989:0.3342	3.661	0.07776	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2457.33	42	chr3	187235841	.	C	T	2457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.635;DP=832;ExcessHet=0;FS=4.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.536;SOR=0.84	GT:AD:DP:GQ:PL	0/1:94,102:196:99:2471,0,2337	18	0	1	0
chr3	194360829	194360829	G	A	exonic	LRRC15	.	nonsynonymous SNV	LRRC15:NM_130830:exon2:c.C215T:p.P72L,LRRC15:NM_001135057:exon3:c.C233T:p.P78L	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0334649822104	7.7e-05	0.000199681	4.148e-05	0	0	0	0	6.014e-05	0	6.252e-05	3.88e-05	6	154602	rs141605466	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0002	1.456e-05	1.264e-05	1.377e-05	1.15e-05	2.987e-05	0	0	0	0	0.0002	2.068e-05	4.968e-05	2.319e-05	2.626e-05	2.625e-05	2.57e-05	2.685e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0	0.447	0.10311	T	0.174	0.31527	T	0.001	0.09854	B	0.002	0.06944	B	0.074035	0.21309	N	0.473995	1	0.08975	N	-0.87	0.01450	N	-2.45	0.88847	D	-1.39	0.34397	N	0.097	0.08925	-0.7002	0.60429	T	0.345	0.70980	T	10	0.056767255	0.06415	T	0.033465	0.55002	D	0.039	0.10176	.	.	0.84128526366	0.83977	0.6602962595694574	0.65966	.	.	0.352670311928	0.18315	T	0.069383	0.33696	T	-0.180404	0.23675	T	-0.389258	0.34638	T	0.0208546632978887	0.00786	T	0.725627	0.33984	T	0.032405272	0.03259	0.047831845	0.06976	0.032405272	0.03258	0.047831845	0.06976	-3.369	0.15987	T	.	.	0.232	0.46505	B	.;.	.;.	2.090331	0.26594	17.17	0.83646211833842465	0.14841	0.09771	0.15451	N	AEFBI	0.050423	0.08812	N	-0.726130930543051	0.15290	0.7692529	-0.594397708834087	0.19638	1.054563	0.659491213429237	0.22254	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.04	3.22	0.36041	2.846000	0.47962	7.536000	0.59999	0.676000	0.76740	0.211000	0.24435	1.000000	0.68203	0.907000	0.44265	0.0717:0.0:0.7917:0.1366	10.255	0.42569	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1449.33	104	chr3	194360829	.	G	A	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=1092;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.166;SOR=0.703	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1463,0,1054	18	0	1	0
chr3	195778916	195778920	CGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7584.05	481	chr3	195778916	.	CGTGA	*	7584.05	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=6401;ExcessHet=0.7564;FS=7.501;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=56.4;MQRankSum=-2.52;QD=5.94;ReadPosRankSum=8.35;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,35:251:99:.:.:791,0,8763:.	18	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1333	33235.5	441	chr3	195778917	.	G	*	33235.5	.	AC=4;AF=0.133;AN=30;BaseQRankSum=3.61;DP=6934;ExcessHet=4.595;FS=4.108;InbreedingCoeff=-0.3196;MLEAC=5;MLEAF=0.167;MQ=56.41;MQRankSum=-4.995;QD=9.52;ReadPosRankSum=-0.848;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,35:251:99:.:.:791,0,8763:.	11	0	4	4
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	428	1020	58	0	16	74	0.0276454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6646.05	560	chr3	195778921	.	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	6646.05	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.764;DP=6962;ExcessHet=0.7564;FS=4.353;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=55.9;MQRankSum=-1.209;QD=4.34;ReadPosRankSum=7.62;SOR=1.033	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,35:251:99:.:.:791,0,8763:.	18	0	1	0
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	45498.8	626	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	45498.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.89;DP=8901;ExcessHet=4.0818;FS=1.787;InbreedingCoeff=-0.2179;MLEAC=4;MLEAF=0.105;MQ=55.88;MQRankSum=-5.582;QD=8.72;ReadPosRankSum=-2.868;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,35:251:99:.:.:791,0,8763:.	15	0	4	0
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	10	5	2	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	9	6	2	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	11	5	2	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	10	5	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	11	6	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,124:126:99:.:.:5516,375,0:.	11	6	1	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	5	7	1	6
chr3	195779676	195779676	A	0	exonic	MUC4	.	.	.	.	468	870	11	10	163	194	0.0175042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	2274.57	157	chr3	195779676	.	A	*	2274.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-0.398;DP=2996;ExcessHet=0;FS=1.264;InbreedingCoeff=0.8688;MLEAC=11;MLEAF=0.344;MQ=54.34;MQRankSum=1.62;QD=1.98;ReadPosRankSum=2.7;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	11	5	0	3
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	8	6	1	4
chr3	195779698	195779698	A	0	exonic	MUC4	.	.	.	.	13	166	3	2	42	49	0.020649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	2558.51	129	chr3	195779698	.	A	*	2558.51	.	AC=11;AF=0.423;AN=26;BaseQRankSum=2.63;DP=3146;ExcessHet=0;FS=0;InbreedingCoeff=0.5756;MLEAC=14;MLEAF=0.538;MQ=52.04;MQRankSum=3.14;QD=2.14;ReadPosRankSum=1.88;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,150:159:99:1|1:195779564_T_G:5947,106,0:195779564	7	5	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,126:126:99:.:.:5388,401,0:.	5	6	2	6
chr3	195780193	195780193	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11387G:p.T3796S,MUC4:NM_001322468:exon15:c.C9947G:p.T3316S	.	439	1036	47	0	0	47	0.0221803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0102740603301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774134232	0.0007	0.0096	0.0007	0.0007	0.0014	0.0007	0.0007	0.0011	0.0010	0.0004	0.0012	0.0009	0.0014	0.0018	0.0005	0.0006	0.0008	0.0004	0.0022	0.0099	0.0020	0.0024	0.0033	0.0020	0.0019	0.0022	0.0019	0.0013	0.0024	0.0029	0.0024	0.0033	0.0037	0	0.0023	0.0015	0.0029	0.115	0.28520	T	1.0	0.01155	T	.	.	.	.	.	.	0.647533	0.05904	U	1.826270	1	0.81001	D	.	.	.	1.26	0.37746	T	0.37	0.06138	N	0.022	0.00407	-1.0305	0.20292	T	0.054	0.22921	T	8	0.029604882	0.01087	T	0.010274	0.26610	T	0.029	0.06676	0.113	0.02240	0.0138822411134	0.00435	4.978917510209087E-4	0.00045	.	.	0.464994490147	0.33994	T	.	.	.	-0.317265	0.07125	T	-0.693506	0.06189	T	0.0254426680646495	0.01331	T	0.763224	0.38939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.42962	B	.;.	.;.	1.906476	0.24211	16.31	0.43164588235131718	0.03231	0.01212	0.04309	N	AEFBI	0.118083	0.23105	N	-0.943984195751418	0.09828	0.4668993	-1.14835345052112	0.06798	0.328425	1.53996112590549E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.580000	0.23505	-0.484000	0.08901	0.093000	0.17603	0.001000	0.13787	0.000000	0.08366	0.052000	0.15357	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	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	430.38	408	chr3	195780193	.	G	C	430.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.903;DP=7807;ExcessHet=0;FS=9.67;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=53.88;MQRankSum=-6.515;QD=2.36;ReadPosRankSum=4.69;SOR=1.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,22:182:99:0|1:195780193_G_C:444,0,6562:195780193	18	0	1	0
chr3	195780371	195780371	-	TGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSS	.	1	82	100	38	5	181	0.517647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0077	0	0	0	0.0041	0	0.0003	0.0001488	23	154602	.	0.0070	0.0048	0.0071	0.0070	0.0084	0.0069	0.0068	0.0073	0.0069	0.0045	0.0084	0.0061	4.682e-05	0.0248	0.0074	0.0066	0.0096	0.0022	0.0055	0.0036	0.0050	0.0059	0.0068	0.0049	0.0047	0.0059	0.0055	0.0022	0	0.0068	0.0038	0.0008	0.0134	0	0.0068	0.0088	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	66797.9	40	chr3	195780371	.	C	CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	66797.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.348;DP=9675;ExcessHet=6.1876;FS=1.117;InbreedingCoeff=-0.2527;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=4.54;QD=20.79;ReadPosRankSum=-16.11;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,200:603:99:0|1:195780355_A_G:6376,0,15475:195780355	18	0	1	0
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|1:337,126:463:99:0|1:195780492_AGGGGTGGCCT_A:3807,0,13447:195780492	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	0/1:306,116:429:99:.:.:3797,0,12988:.	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|1:366,119:485:99:0|1:195780492_AGGGGTGGCCT_A:3771,0,14900:195780492	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|1:292,113:407:99:0|1:195780514_G_*:3859,0,11963:195780514	10	0	6	3
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	0|1:275,113:390:99:0|1:195780514_G_*:3910,0,11249:195780514	4	4	3	8
chr3	195781234	195781234	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10346T:p.A3449V,MUC4:NM_001322468:exon12:c.C9146T:p.A3049V	.	460	1029	28	2	3	35	0.015311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.000563479903346	.	.	0.0005	0.0027	0	0	0.0012	0.0003	0	0.0001	.	.	.	rs865988567	0.0002	0.0012	0.0002	0.0002	0.0031	0.0001	0.0001	0.0026	0.0024	0.0031	0.0004	0.0001	3.17e-05	6.908e-05	0.0003	7.206e-05	0.0003	0.0001	0.0003	0.0018	0.0003	0.0004	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	7.698e-05	0	0	0.0002	0	0.0001	0	0	0.369	0.11586	T	0.095	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32958	T	-0.7	0.19933	N	0.041	0.01421	-1.0086	0.27354	T	0.038	0.16591	T	8	0.012799859	0.00274	T	5.63E-4	0.00221	T	0.028	0.06331	.	.	0.0138822411134	0.00435	1.400514204918446E-4	0.00012	.	.	0.488370060921	0.37212	T	.	.	.	-0.369719	0.03608	T	-0.768852	0.02806	T	0.0145343560725451	0.00297	T	0.691131	0.30243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	-0.084122	0.03738	0.772	0.63688682330724611	0.07290	0.02188	0.06398	N	AEFBCI	0.058145	0.10887	N	-1.73849665328504	0.00714	0.03082306	-1.85502480068086	0.00599	0.02659145	2.27321539588462E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	0.743	-1.49	0.08259	-0.413000	0.07188	-1.144000	0.06200	-1.683000	0.00782	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.265:0.0:0.735:0.0	4.978	0.13495	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	0.000687	0.000000	0.002008	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	666.58	540	chr3	195781234	.	G	A	666.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.66;DP=7854;ExcessHet=0.119;FS=13.702;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=56.7;MQRankSum=-2.231;QD=1;ReadPosRankSum=-4.172;SOR=2.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,35:441:99:0|1:195781215_G_C:248,0,16943:195781215	16	0	2	1
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|1:284,89:373:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:1364,0,11448:195781570	7	0	10	2
chr3	195781607	195781703	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	0	exonic	MUC4	.	.	.	.	455	767	10	10	280	310	0.0191816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5738.6	732	chr3	195781607	.	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	*	5738.6	.	AC=3;AF=0.167;AN=18;DP=7165;ExcessHet=0.0506;FS=4.874;InbreedingCoeff=-0.0857;MLEAC=5;MLEAF=0.278;MQ=52.52;MQRankSum=1.54;QD=3.34;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,89:373:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:1364,0,11448:195781570	6	0	3	10
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|0:0,82:266:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:7473,5720,7793:195781570	5	5	8	1
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	4726.44	626	chr3	195781647	.	A	*	4726.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.821;DP=4938;ExcessHet=0.0072;FS=3.612;InbreedingCoeff=0.475;MLEAC=11;MLEAF=0.55;MQ=54.6;MQRankSum=-3.859;QD=4.23;ReadPosRankSum=-5.711;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,82:251:99:.:.:1682,0,7044:.	5	2	3	9
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|1:118,131:249:99:0|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:4967,0,4035:195782475	14	2	3	0
chr3	195782692	195782692	A	0	exonic	MUC4	.	.	.	.	437	963	105	8	9	130	0.0591109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2334.76	898	chr3	195782692	.	A	*	2334.76	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-3.519;DP=9868;ExcessHet=0.0506;FS=1.163;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.208;MQ=52.78;MQRankSum=-4.59;QD=2.55;ReadPosRankSum=-5.129;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,129:248:99:.:.:4672,0,4116:.	9	1	2	7
chr3	195782702	195782702	A	0	exonic	MUC4	.	.	.	.	483	896	103	8	32	151	0.0622711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6391.2	942	chr3	195782702	.	A	*	6391.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.125;DP=10537;ExcessHet=0.1504;FS=1.785;InbreedingCoeff=-0.1296;MLEAC=6;MLEAF=0.3;MQ=52.53;MQRankSum=-3.271;QD=3.76;ReadPosRankSum=-0.193;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,129:248:99:.:.:4672,0,4116:.	7	1	2	9
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	16430.2	849	chr3	195782949	.	A	*	16430.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.824;DP=11095;ExcessHet=0;FS=3.826;InbreedingCoeff=0.4035;MLEAC=2;MLEAF=0.2;MQ=56.53;MQRankSum=2.53;QD=15.14;ReadPosRankSum=0.951;SOR=0.625	GT:AD:DP:GQ:PL	0/1:2,209:419:99:12845,5492,6810	4	0	1	14
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55,MUC4:NM_001322468:exon8:c.7888_7889del:p.Q2630Gfs*32	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	6698.88	493	chr3	195783018	.	AGC	A	6698.88	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2;DP=8800;ExcessHet=0.3892;FS=0;InbreedingCoeff=0.0686;MLEAC=1;MLEAF=0.028;MQ=54.08;MQRankSum=9.63;QD=5.25;ReadPosRankSum=-1.705;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,195:357:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:6712,0,6115:195782942	17	0	1	1
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	6522.88	493	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	T	6522.88	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.02;DP=8396;ExcessHet=0.3892;FS=0.53;InbreedingCoeff=0.0686;MLEAC=1;MLEAF=0.028;MQ=55.23;MQRankSum=6.95;QD=4.46;ReadPosRankSum=-1.243;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,199:422:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:6536,0,7974:195782942	17	0	1	1
chr3	195783057	195783057	T	0	exonic	MUC4	.	.	.	.	0	207	1	0	18	19	0.00240964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	859.77	493	chr3	195783057	.	T	*	859.77	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.43;DP=8169;ExcessHet=0.8031;FS=0.56;InbreedingCoeff=-0.1091;MLEAC=4;MLEAF=0.143;MQ=55.83;MQRankSum=-6.533;QD=0.53;ReadPosRankSum=5.71;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,199:422:99:0|1:195782942_GGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA_G:6536,0,7974:195782942	11	0	3	5
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10805.8	355	chr3	195783068	.	G	*	10805.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=2.51;DP=7610;ExcessHet=1.4758;FS=5.085;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.22;MQRankSum=-10.42;QD=3.69;ReadPosRankSum=-2.88;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,192:266:99:0|1:195783068_G_*:10130,3022,2574:195783068	8	0	4	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10736.8	358	chr3	195783070	.	A	*	10736.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=3.79;DP=7581;ExcessHet=1.4758;FS=7.09;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.3;MQRankSum=-10.39;QD=3.64;ReadPosRankSum=-2.999;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,192:266:99:0|1:195783068_G_*:10133,3022,2532:195783068	8	0	4	7
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:12,192:249:99:0|1:195783068_G_*:8516,1425,1311:195783068	8	0	6	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	412.43	329	chr3	195783103	.	A	*	412.43	.	AC=5;AF=0.227;AN=22;BaseQRankSum=2.67;DP=7574;ExcessHet=5.3327;FS=6.335;InbreedingCoeff=-0.0965;MLEAC=7;MLEAF=0.318;MQ=57.66;MQRankSum=-9.084;QD=0.15;ReadPosRankSum=-0.959;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,186:250:99:0|1:195783068_G_*:6990,0,978:195783068	6	0	5	8
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	329.52	321	chr3	195783105	.	C	*	329.52	.	AC=4;AF=0.154;AN=26;BaseQRankSum=4.36;DP=7378;ExcessHet=1.7113;FS=6.552;InbreedingCoeff=0.0048;MLEAC=5;MLEAF=0.192;MQ=57.33;MQRankSum=-7.859;QD=0.2;ReadPosRankSum=3.55;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,186:250:99:0|1:195783068_G_*:6978,0,1080:195783068	9	0	4	6
chr3	195784222	195784222	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7358T:p.S2453I,MUC4:NM_001322468:exon7:c.G7310T:p.S2437I	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00123067916613	.	.	0.0008	0.0005	0	0	0.0005	0.0015	0	0.0003	0.0001488	23	154602	rs778868605	7.232e-05	0.0009	7.612e-05	6.842e-05	7.09e-05	5.984e-05	5.538e-05	5.165e-05	4.688e-05	7.09e-05	0	0.0001	0	0.0004	0	6.49e-05	0.0001	0	0.0006	0.0033	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0005	0.0003	0	0.0007	0	0	0.0012	0	0.0008	0.0033	0.0003	0.167	0.27783	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20909	N	.	.	.	1.47	0.31987	T	-0.5	0.18459	N	0.091	0.06990	-0.9912	0.32295	T	0.028	0.11882	T	8	0.024404973	0.00670	T	0.001231	0.01633	T	0.019	0.03383	0.296	0.26041	0.0611884634855	0.05136	1.8125435560606282E-4	0.00016	.	.	0.579718947411	0.50047	T	.	.	.	-0.345844	0.04993	T	-0.734557	0.04123	T	0.0165328343169427	0.00416	T	0.518148	0.16784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.50044	B	.;.	.;.	1.229455	0.16240	12.41	0.92940184326513287	0.22508	0.00376	0.01908	N	AEFDBCI	0.029546	0.02808	N	-1.30213955474078	0.03651	0.1634745	-1.38485414412822	0.03412	0.1591326	1.4555076539631E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-1.45	0.08365	-0.904000	0.04188	-7.951000	0.01055	-1.299000	0.01246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3013:0.3987:0.3:0.0	2.814	0.05117	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03571	888.58	1016	chr3	195784222	.	C	A	888.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.123;DP=12537;ExcessHet=0;FS=0;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=59.3;MQRankSum=-4.48;QD=1.74;ReadPosRankSum=-2.98;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:455,55:510:99:0|1:195784220_T_G:900,0,18883:195784220	13	0	1	5
chr3	195784238	195784238	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7342T:p.P2448S,MUC4:NM_001322468:exon7:c.C7294T:p.P2432S	.	408	1104	9	0	1	10	0.00405954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000863838312464	.	.	0.0007	0.0004	0	0	0.0006	0.0011	0	0.0003	.	.	.	rs767095427	1.063e-05	0.0003	1.456e-05	6.618e-06	0.0001	5.93e-06	4.57e-06	2.75e-05	1.462e-05	0.0001	0	9.091e-05	0	6.577e-05	0	5.358e-06	0	0	0.0002	0.0017	0.0002	0.0001	0.0003	0.0001	9.318e-05	0.0001	8.79e-05	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0015	0	0.931	0.08018	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.28391	T	-0.07	0.08033	N	0.047	0.01911	-1.0015	0.29488	T	0.037	0.15770	T	8	0.02548623	0.00741	T	8.64E-4	0.00755	T	0.012	0.01476	0.155	0.05858	0.0138822411134	0.00435	4.261584325015362E-4	0.00038	.	.	0.51801776886	0.41346	T	.	.	.	-0.356185	0.04350	T	-0.749412	0.03509	T	0.0607865366847168	0.07291	T	0.665433	0.27458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08417	B	.;.	.;.	0.847285	0.12193	8.739	0.96811081693435341	0.31187	0.00361	0.01848	N	AEFDBCI	0.037527	0.05175	N	-1.30116415194799	0.03662	0.1639944	-1.41352889436045	0.03116	0.1447291	1.53166465818705E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-1.55	0.08105	-1.034000	0.03678	-5.367000	0.01745	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4368:0.0:0.5632:0.0	5.287	0.15018	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	.	.	.	.	.	.	.	.	0.03333	162.04	1016	chr3	195784238	.	G	A	162.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.36;DP=13069;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.033;MQ=59.36;MQRankSum=-4.902;QD=0.31;ReadPosRankSum=-3.574;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:487,40:527:99:0|1:195784220_T_G:174,0,20329:195784220	14	0	1	4
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	2631.34	1686	chr3	195785314	.	A	AC	2631.34	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.56;DP=17159;ExcessHet=0.3672;FS=1.913;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.094;MQ=57.24;MQRankSum=-2.505;QD=1.25;ReadPosRankSum=1.93;SOR=0.789	GT:AD:DP:GQ:PL	0/1:382,87:469:99:2250,0,14699	13	0	3	3
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGAAAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTTTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTTTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	.	0	2.75e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.639e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	573736.0	1545	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGAAAC	573736.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.84;DP=17971;ExcessHet=0;FS=0;InbreedingCoeff=0.6577;MLEAC=1;MLEAF=0.028;MQ=57.37;MQRankSum=-0.512;QD=26.8;ReadPosRankSum=0.165;SOR=0.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,76:406:99:.:.:17747,11631,14698:.	17	0	1	1
chr3	196209422	196209422	C	T	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon3:c.G362A:p.R121H	.	425	1095	2	0	0	2	0.000912409	.	.	.	2374052	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.343	0.0347767878889	.	.	0.0003	0	0.0004	0	0	0.0002	0.002	0.0010	0.0001617	25	154602	rs775236590	0.0001	0.0001	8.328e-05	0.0001	0.0016	9.301e-05	8.764e-05	0.0008	0.0006	0	0.0002	0	7.598e-05	0	0.0016	6.217e-05	0.0003	0.0006	8.534e-05	8.53e-05	6.422e-05	0.0001	0.0006	4.953e-05	3.959e-05	0.0002	8.992e-05	7.215e-05	0	0.0001	0	0	0	0	7.349e-05	0	0.0006	0.001	0.78490	D	0.044	0.49663	D	0.999	0.77913	D	0.91	0.64641	D	0.001408	0.39109	N	0.117171	0.991741	0.41463	D	3.66	0.94269	H	1.74	0.26301	T	-4.73	0.80085	D	0.477	0.51226	-0.5957	0.64992	T	0.193	0.54564	T	10	0.51462287	0.62294	D	0.034777	0.55905	D	0.343	0.66488	0.744	0.87570	0.208816687407	0.20498	0.6706171266003973	0.66999	0.726573013998	0.62520	0.403994292021	0.25625	T	0.341003	0.70996	T	-0.181388	0.23530	T	-0.157778	0.58551	T	0.378758784420681	0.28135	T	0.942906	0.78488	D	0.36586678	0.58278	0.33060887	0.58928	0.36586678	0.58278	0.33060887	0.58927	-6.394	0.49463	T	.	.	0.113	0.22428	B	.	.	3.768575	0.54117	23.4	0.9995528318069874	0.99969	0.90722	0.52138	D	AEFDBI	0.552255	0.56399	D	0.704364679378554	0.79920	7.180542	0.636485064921647	0.77607	6.712228	0.99987344899622	0.44625	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.81	4.94	0.64645	2.483000	0.44891	1.103000	0.24087	0.599000	0.40250	1.000000	0.71638	0.981000	0.30433	0.971000	0.54645	0.0:0.914:0.0:0.086	10.878	0.46131	749	0.51929	Palmitoyltransferase, DHHC 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	0.001009	0.000000	0.000000	0.002941	0.000000	0.008621	0.000000	0.003788	0.02632	1409.33	42	chr3	196209422	.	C	T	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.1;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.782;SOR=0.701	GT:AD:DP:GQ:PL	0/1:79,59:138:99:1423,0,1974	18	0	1	0
chr3	196569000	196569000	C	G	exonic	FBXO45	.	nonsynonymous SNV	FBXO45:NM_001105573:exon1:c.C16G:p.P6A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.00179712	0.5	.	.	.	0.5	.	.	.	0.0005563	86	154602	rs558273863	0.0115	0.0071	0.0114	0.0117	0.0123	0.0113	0.0112	0.0121	0.0120	0.0009	0.0050	0.0002	0	0.0133	0.0006	0.0123	0.0076	0	0.0068	0.0069	0.0071	0.0065	0.0105	0.0065	0.0063	0.0098	0.0096	0.0023	0.0088	0.0041	0	0	0.0146	0.0034	0.0105	0.0058	0	0.0	0.91255	D	0.639	0.06992	T	0.0	0.02946	B	0.0	0.01387	B	0.547622	0.11470	U	0.785958	0.600221	0.81001	D	0	0.06538	N	1.12	0.38718	T	-0.59	0.17624	N	0.165	0.17416	-1.0297	0.20551	T	0.051	0.21728	T	10	0.0016505718	0.00020	T	.	.	.	0.075	0.21907	.	.	.	.	0.1406002512993453	0.13983	1.09070707479	0.77418	0.85811662674	0.90833	D	0.079729	0.36197	T	-0.406398	0.02101	T	-0.344863	0.39794	T	0.229454927761091	0.21925	T	0.478452	0.14421	T	0.10312565	0.24374	0.12619613	0.30396	0.10312565	0.24373	0.12619613	0.30396	-1.429	0.01625	T	.	.	0.040	0.00014	B	.	.	2.538189	0.32831	19.16	0.97823150135365933	0.36207	0.36119	0.25460	N	ALL	0.134198	0.25413	N	-0.402478955627107	0.25382	1.37743	-0.233396781434518	0.30348	1.707938	0.999999918552013	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.61	2.65	0.30588	2.246000	0.42794	3.345000	0.37739	-0.231000	0.07715	0.995000	0.38783	1.000000	0.68203	0.176000	0.21171	0.1532:0.6141:0.1488:0.0839	4.708	0.12239	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	.	.	.	.	.	.	.	.	0.02632	435.87	10	chr3	196569000	.	C	G	435.87	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.483;DP=195;ExcessHet=0;FS=0;InbreedingCoeff=-0.0598;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.576;SOR=0.56	GT:AD:DP:GQ:PL	0/1:12,17:29:99:449,0,368	18	0	1	0
chr3	197006725	197006725	C	T	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon14:c.G1762A:p.E588K	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0546882376816	0.0007	0.000798722	0.0009	0.0002	0.0010	0	0	0.0011	0.0056	0.0008	0.0007762	120	154602	rs148616625	0.0007	0.0008	0.0007	0.0008	0.0121	0.0007	0.0007	0.0097	0.0089	0.0006	0.0013	0.0067	5.487e-05	3.974e-05	0.0121	0.0005	0.0019	0.0008	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0006	0.0015	0.0013	0.0002	0	0.0021	0.0084	0	0	0.0068	0.0006	0.0014	0.0010	0.015	0.52492	D	0.078	0.42261	T	0.997	0.70673	D	0.94	0.67560	D	0.000008	0.62929	D	0.108239	0.999998	0.58761	D	3.13	0.88074	M	1.58	0.29085	T	-2.81	0.59389	D	0.416	0.45615	-0.7636	0.57209	T	0.200	0.55640	T	10	0.010332048	0.00230	T	0.054688	0.65950	D	0.187	0.46274	.	.	0.518254980372	0.51468	0.7490734779157914	0.74853	0.82219447341	0.67223	0.59067261219	0.51588	T	0.215804	0.57779	T	-0.29771	0.08878	T	-0.245968	0.50214	T	0.106486484408379	0.13056	T	0.836716	0.50835	T	0.36498472	0.58212	0.27067268	0.52960	0.36498472	0.58213	0.27067268	0.52959	-8.383	0.63652	D	.	.	0.129	0.27463	B	.	.	4.972240	0.82291	27.8	0.99892315631177309	0.96589	0.96154	0.67780	D	AEFDBI	0.766497	0.70265	D	0.597859871409838	0.73040	5.90171	0.513316811676655	0.68884	5.282195	0.999999999706137	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.37	5.37	0.76949	7.535000	0.80919	4.910000	0.45943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:1.0:0.0:0.0	16.594	0.84641	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-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	0.013595	0.020202	0.017663	0.032164	0.000000	0.000000	0.003049	0.000000	0.02632	681.33	34	chr3	197006725	.	C	T	681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.908;DP=671;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=-1.164;SOR=0.386	GT:AD:DP:GQ:PL	0/1:11,26:37:99:695,0,188	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	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	0/1:126,37:163:99:104,0,2869	1	0	18	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A,CPZ:NM_001014447:exon9:c.C1438G:p.P480A,CPZ:NM_001014448:exon9:c.C1027G:p.P343A	.	427	1067	28	0	0	28	0.012951	.	.	.	3214362	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07895	7906.77	222	chr4	8614433	.	C	G	7906.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.422;DP=3073;ExcessHet=0;FS=0.453;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.59;ReadPosRankSum=1.66;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,136:136:99:1|1:8614433_C_G:5946,409,0:8614433	17	1	1	0
chr4	9211135	9211135	A	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A479C:p.D160A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.00413190320197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.913e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	4.995	0.99862	H	0.81	0.48460	T	-7.36	0.94674	D	0.565	0.58883	-0.4187	0.71434	T	0.360	0.72178	T	7	0.9495988	0.94292	D	0.004132	0.09900	T	0.335	0.65718	0.914	0.98346	0.324986149311	0.32103	0.0539462097334608	0.05336	.	.	0.628609061241	0.56948	T	0.279573	0.65225	T	-0.0244227	0.48219	T	-0.272858	0.47530	T	0.999674081802368	0.98435	D	0.948305	0.85096	D	0.8041652	0.84172	0.5725491	0.75243	0.8041652	0.84174	0.5725491	0.75244	-10.208	0.75147	D	.	.	0.504	0.64745	A	.;.	.;.	3.956049	0.57992	23.9	0.98233942307844913	0.39414	0.81381	0.40796	D	AEFI	0.201844	0.32848	N	-0.118902843816456	0.36570	2.115614	-0.392213563419094	0.25227	1.38612	3.15107141645453E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	4.146000	0.57840	.	.	0.493000	0.22426	1.000000	0.71638	0.919000	0.28284	0.427000	0.27384	0.9998:0.0:2.0E-4:0.0	5.092	0.14050	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	82.66	.	chr4	9211135	.	A	C	82.66	.	AC=2;AF=0.2;AN=10;DP=224;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=40;QD=26.35;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:9211135_A_C:90,6,0:9211135	4	1	0	14
chr4	9211141	9211141	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A485T:p.H162L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0080383253711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	3.96	0.96509	H	3.34	0.06063	T	-10.09	0.98901	D	0.408	0.45992	-1.0962	0.04583	T	0.030	0.12760	T	7	0.6321055	0.68575	D	0.008038	0.21316	T	0.183	0.45592	0.796	0.91657	0.483596354421	0.47990	0.030639422456034803	0.03012	.	.	0.633650541306	0.57663	T	0.051811	0.28983	T	-0.0703734	0.41268	T	-0.338863	0.40472	T	0.999839782714844	0.99255	D	0.948005	0.79945	D	0.8231549	0.85434	0.63289875	0.78578	0.8231549	0.85435	0.63289875	0.78579	-9.419	0.70354	D	.	.	0.203	0.42834	B	.;.	.;.	3.467043	0.48348	22.6	0.91139033183006979	0.20392	0.75062	0.36736	D	AEFI	0.297035	0.40672	N	-0.321509554042519	0.28333	1.561852	-0.515597888344849	0.21729	1.176873	3.15107141645453E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	5.722000	0.68134	.	.	0.493000	0.22426	1.000000	0.71638	0.630000	0.25861	0.435000	0.27561	0.9998:0.0:2.0E-4:0.0	5.092	0.14050	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	82.66	.	chr4	9211141	.	A	T	82.66	.	AC=2;AF=0.2;AN=10;DP=224;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=40;QD=30.36;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:9211135_A_C:90,6,0:9211135	4	1	0	14
chr4	37444246	37444246	G	A	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.G2258A:p.R753H	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00939842348465	0.0020	.	0.0014	0	0	0	0.0037	0.0026	0	0.0003	0.000414	64	154602	rs78086173	0.0019	0.0018	0.0019	0.0018	0.0020	0.0018	0.0018	0.0020	0.0019	0.0002	0.0003	0.0023	5.596e-05	0.0051	0.0007	0.0020	0.0013	0.0003	0.0017	0.0017	0.0016	0.0018	0.0022	0.0016	0.0015	0.0019	0.0018	0.0003	0.0263	6.533e-05	0.0026	0	0.0059	0	0.0022	0.0014	0	0.3	0.14497	T	0.586	0.08332	T	0.003	0.11197	B	0.001	0.04355	B	0.001133	0.40136	N	0.288637	0.707725	0.33486	D	0.48	0.13178	N	-1.58	0.81987	D	-1.69	0.40274	N	0.043	0.01577	-0.5997	0.64830	T	0.325	0.69367	T	10	0.005783856	0.00129	T	0.009398	0.24646	T	0.178	0.44724	.	.	0.124217242631	0.12060	0.2809560254238635	0.28008	.	.	0.239765867591	0.02769	T	0.024912	0.18734	T	-0.481446	0.00725	T	-0.470198	0.25495	T	0.0225775923101079	0.00973	T	0.814619	0.46840	T	0.06964281	0.15274	0.055801604	0.09854	0.06964281	0.15274	0.055801604	0.09853	-5.209	0.39033	T	.	.	0.068	0.02894	B	.	.	1.809783	0.23000	15.85	0.95759108006672544	0.27744	0.76415	0.37475	D	AEFBI	0.188308	0.31558	N	-0.305117651201788	0.28953	1.60136	-0.127956586802306	0.34268	1.969272	0.0603557046858009	0.15194	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	6.05	3.29	0.36801	2.802000	0.47612	3.442000	0.38388	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.991000	0.66497	0.4121:0.0:0.5879:0.0	9.508	0.38227	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	.	.	.	.	.	.	.	.	0.02632	1077.33	147	chr4	37444246	.	G	A	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=1191;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.356;SOR=1.012	GT:AD:DP:GQ:PL	0/1:65,39:104:99:1091,0,1758	18	0	1	0
chr4	70528753	70528753	G	A	exonic	AMTN	.	nonsynonymous SNV	AMTN:NM_001286731:exon6:c.G322A:p.A108T,AMTN:NM_212557:exon6:c.G325A:p.A109T	.	446	1066	10	0	0	10	0.00466853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0194414723553	0.0002	0.000998403	0.0010	0	0.0004	0	0	0.0004	0.0012	0.0066	0.0008538	132	154602	rs201205218	0.0005	0.0006	0.0004	0.0007	0.0061	0.0005	0.0005	0.0057	0.0055	6.23e-05	0.0001	0.0004	0	0	0.0043	0.0002	0.0005	0.0061	0.0004	0.0004	0.0002	0.0006	0.0064	0.0003	0.0003	0.0047	0.0041	0	0	6.539e-05	0.0006	0	0	0	0.0004	0.0014	0.0064	0.138	0.26085	T	0.184	0.30926	T	0.728	0.42542	P	0.25	0.39011	B	0.000873	0.41335	N	0.109134	0.932416	0.27022	N	1.87	0.49600	L	-0.17	0.65563	T	-2.75	0.58407	D	0.379	0.42050	-0.9720	0.36776	T	0.141	0.46072	T	10	0.01204133	0.00260	T	0.019441	0.41802	T	0.076	0.22200	.	.	0.668644350172	0.66585	0.22242245000308886	0.22157	0.0836660372965	0.09433	0.316150248051	0.12838	T	0.004593	0.03998	T	-0.418916	0.01738	T	-0.372047	0.36649	T	0.0590986928115781	0.07026	T	0.554445	0.20372	T	0.16979228	0.37516	0.19360559	0.42939	0.16979228	0.37516	0.19360559	0.42938	-3.014	0.10453	T	.	.	0.080	0.08272	B	.;.	.;.	2.416805	0.31068	18.63	0.99805941105971585	0.88995	0.75294	0.36859	D	AEFI	0.133105	0.25265	N	-0.00758172443493024	0.41510	2.484299	0.0748345428069778	0.43287	2.633634	9.98203621879059E-4	0.08103	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.56	3.82	0.43153	0.672000	0.24868	1.939000	0.29818	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1753:0.0:0.8247:0.0	8.881	0.34533	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.050000	0.000000	0.006098	0.000000	0.02632	903.33	43	chr4	70528753	.	G	A	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.797;DP=752;ExcessHet=0;FS=3.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7;ReadPosRankSum=1.18;SOR=0.994	GT:AD:DP:GQ:PL	0/1:83,46:129:99:917,0,2028	18	0	1	0
chr4	75647116	75647116	T	C	exonic	G3BP2	.	nonsynonymous SNV	G3BP2:NM_203504:exon9:c.A871G:p.I291V,G3BP2:NM_012297:exon10:c.A970G:p.I324V,G3BP2:NM_203505:exon10:c.A970G:p.I324V	.	450	1069	3	0	0	3	0.00140121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	0.00319489	0.0009	0	0	0	0	7.539e-05	0	0.0065	0.0008279	128	154602	rs200985641	0.0004	0.0004	0.0002	0.0007	0.0067	0.0004	0.0004	0.0063	0.0061	3.016e-05	0	0	0	0	0.0005	2.182e-05	0.0005	0.0067	0.0004	0.0004	0.0002	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.404e-05	0	0	0	0	0	0	0.0001	0	0.0097	0.607	0.09155	T	0.764	0.05398	T	0.004	0.12183	B	0.002	0.06944	B	0.000001	0.62929	D	0.134473	0.995833	0.44071	D	1.525	0.38595	L	-1.01	0.76168	T	0.04	0.06488	N	0.1	0.09914	-0.8747	0.50173	T	0.211	0.57188	T	10	0.0055274963	0.00122	T	.	.	.	0.213	0.50496	.	.	0.548595629315	0.54515	0.252007837481302	0.25114	0.957395983082	0.72880	0.693578004837	0.66220	T	0.098639	0.40266	T	-0.402539	0.02228	T	-0.347828	0.39452	T	0.0400211962370235	0.03695	T	0.833317	0.58094	T	0.06829335	0.14865	0.07461933	0.16342	0.06829335	0.14865	0.07461933	0.16342	-4.251	0.28274	T	.	.	0.084	0.21728	B	.;.;.	.;.;.	2.397548	0.30800	18.55	0.96106277925239258	0.28730	0.96945	0.71803	D	AEBI	0.476592	0.51994	N	-0.298931687666399	0.29190	1.61654	-0.054871385323278	0.37280	2.180679	0.999264736926352	0.38940	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.04	4.84	0.62125	4.482000	0.59989	5.066000	0.47133	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.13:0.87	13.537	0.61111	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	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	658.33	40	chr4	75647116	.	T	C	658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=763;ExcessHet=0;FS=0.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.206;SOR=0.573	GT:AD:DP:GQ:PL	0/1:45,30:75:99:672,0,1010	18	0	1	0
chr4	78912028	78912028	C	T	exonic	BMP2K	.	stopgain	BMP2K:NM_198892:exon16:c.C3481T:p.Q1161X	.	428	1064	29	0	1	30	0.0134446	.	.	.	215303	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.572	.	0.0024	0.000599042	0.0031	0.0006	0.0036	0	0.0002	0.0041	0.0048	0.0027	0.0027296	422	154602	rs138262352	0.0022	0.0022	0.0021	0.0024	0.0336	0.0022	0.0021	0.0297	0.0282	0.0008	0.0030	0.0255	0	0.0002	0.0336	0.0016	0.0044	0.0021	0.0021	0.0021	0.0022	0.0019	0.0022	0.0019	0.0018	0.0020	0.0018	0.0005	0	0.0014	0.0254	0	0.0003	0.0442	0.0022	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.739903	0.06422	N	1.150280	0.894372	0.81001	D	.	.	.	.	.	.	.	.	.	0.224	0.25130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238782	0.77546	D	0.566539	0.96104	D	0.0855147993546638	0.10677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.353860	0.98814	40	0.99572507971229229	0.72501	0.98535	0.83821	D	AEFBCI	0.210611	0.33648	N	1.01349220129095	0.96145	14.35152	0.820984657983906	0.91211	10.77427	0.999999990763139	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.51	5.51	0.81769	7.195000	0.77321	7.711000	0.66806	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	19.420	0.94711	553	0.71930	BMP-2-inducible protein kinase, C-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	.	.	.	.	.	.	.	.	0.02632	1669.33	33	chr4	78912028	.	C	T	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.74;DP=781;ExcessHet=0;FS=4.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.579;SOR=1.089	GT:AD:DP:GQ:PL	0/1:78,67:145:99:1683,0,1989	18	0	1	0
chr4	87612877	87612877	C	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.C691A:p.P231T	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	0	1460	59	3	0	65	0.0217755	.	.	.	709500	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0107	0.00938498	0.0048	0.0308	0.0027	0	0.0003	0.0023	0.0033	0.0055	0.0044049	681	154602	rs61738509	0.0023	0.0023	0.0022	0.0023	0.0314	0.0022	0.0022	0.0298	0.0292	0.0314	0.0028	0.0033	2.519e-05	0.0005	0.0201	0.0011	0.0047	0.0051	0.0092	0.0092	0.0095	0.0088	0.0277	0.0087	0.0086	0.0264	0.0258	0.0277	0	0.0051	0.0026	0	9.43e-05	0.0170	0.0014	0.0118	0.0054	.	.	.	0.015	0.61642	D	0.376	0.34240	B	0.281	0.40336	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	-2.74	0.90735	D	-1.55	0.37566	N	0.075	0.04913	-0.4465	0.70515	T	0.284	0.65635	T	9	0.0040643215	0.00079	T	.	.	.	0.131	0.35738	.	.	0.752457321884	0.75022	0.041629231257064366	0.04107	.	.	.	.	.	0.107497	0.41975	T	-0.49454	0.00614	T	-0.460836	0.26507	T	0.00740487841703859	0.00085	T	0.535646	0.17968	T	0.24967659	0.47964	0.16353863	0.37932	0.24967659	0.47964	0.16353863	0.37932	-2.595	0.06466	T	.	.	.	.	.	.	.	1.421685	0.18386	13.71	0.94658896064943798	0.25273	0.01971	0.05969	N	AEFBI	0.033865	0.04094	N	-0.557574738781123	0.20246	1.065935	-0.654368476876986	0.18106	0.9657944	2.75932204855581E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.59	2.68	0.30839	0.099000	0.15047	0.412000	0.18122	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.156:0.615:0.1372:0.0918	4.740	0.12385	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	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	0.016113	0.005051	0.013587	0.026316	0.000000	0.017241	0.012195	0.018939	0.02632	1515.33	41	chr4	87612877	.	C	A	1515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.379;DP=1396;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.334;SOR=0.661	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1529,0,1338	18	0	1	0
chr4	87612988	87612988	G	T	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.G802T:p.G268W	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	1	1459	58	4	0	66	0.022118	.	.	.	709501	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.317	.	0.0102	0.00938498	0.0048	0.0308	0.0027	0	0.0003	0.0023	0.0033	0.0055	0.0043919	679	154602	rs61738508	0.0023	0.0023	0.0022	0.0023	0.0314	0.0022	0.0022	0.0298	0.0292	0.0314	0.0028	0.0033	2.519e-05	0.0005	0.0201	0.0011	0.0046	0.0051	0.0092	0.0092	0.0095	0.0088	0.0277	0.0088	0.0086	0.0264	0.0259	0.0277	0	0.0051	0.0026	0	9.422e-05	0.0170	0.0014	0.0118	0.0054	.	.	.	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	-2.87	0.91478	D	-2.2	0.49519	N	0.427	0.46649	-0.3287	0.74171	T	0.441	0.77934	T	9	0.0053670406	0.00118	T	.	.	.	0.317	0.63904	.	.	0.894058902907	0.89300	0.015816033081109494	0.01537	.	.	.	.	.	0.105358	0.41575	T	-0.3764	0.03282	T	-0.291136	0.45655	T	0.0411847282565417	0.03905	T	0.49475	0.15329	T	0.17112778	0.37727	0.18662253	0.41845	0.17112778	0.37727	0.18662253	0.41845	-7.872	0.60194	D	.	.	.	.	.	.	.	2.976799	0.39698	21.0	0.85653291510815888	0.16028	0.08728	0.14615	N	AEFBI	0.124935	0.24122	N	-0.111796392611657	0.36879	2.137706	-0.33626799612501	0.26938	1.491313	3.35337049589703E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.59	2.81	0.31971	3.204000	0.50785	4.777000	0.44811	0.676000	0.76740	0.166000	0.23880	0.999000	0.35428	0.046000	0.14843	0.277:0.1863:0.5367:0.0	3.829	0.08378	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	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	0.015609	0.005051	0.013587	0.026316	0.000000	0.017241	0.009146	0.018939	0.02632	1110.33	44	chr4	87612988	.	G	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.438;DP=1313;ExcessHet=0;FS=5.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-1.035;SOR=0.677	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1124,0,1174	18	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	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	1/1:0,25:25:76:.:.:1078,76,0:.	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	1/1:0,25:25:76:.:.:1078,76,0:.	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	1/1:0,25:25:76:.:.:1078,76,0:.	5	3	10	1
chr4	87615974	87615974	C	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.C3312A:p.D1104E	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	1152	344	0	1	25	27	0.00289855	.	.	.	2819992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.224	0.110397487395	.	.	0.0012	0.0038	0	0	0	0.0007	0	0.0013	.	.	.	rs766191304	0.0011	0.0008	0.0009	0.0012	0.0087	0.0010	0.0009	0.0070	0.0064	0.0087	0.0015	0.0018	0.0005	0.0005	0.0060	0.0007	0.0021	0.0018	0.0011	0.0076	0.0013	0.0008	0.0034	0.0008	0.0007	0.0021	0.0018	0.0034	0	0.0005	0.0008	0	0	0	0.0005	0	0.0017	.	.	.	0.948	0.02632	T	0.981	0.59675	D	0.426	0.45295	B	.	.	.	.	0.999993	0.08975	N	0	0.06538	N	-2.38	0.88298	D	-0.01	0.07155	N	0.198	0.21839	-0.4795	0.69384	T	0.468	0.79465	T	9	0.010377973	0.00231	T	0.110397	0.78776	D	0.224	0.52174	0.272	0.22210	0.611956068543	0.60883	7.710402196006273E-5	0.00006	.	.	.	.	.	0.064667	0.32493	T	-0.467313	0.00884	T	-0.463053	0.26267	T	0.0101569076584086	0.00137	T	0.405359	0.10397	T	0.05686679	0.11246	0.045882676	0.06271	0.05686679	0.11245	0.045882676	0.06270	-7.043	0.54347	T	.	.	.	.	.	.	.	0.785192	0.11556	8.149	0.69898913637049731	0.09120	0.03750	0.09054	N	AEFCI	0.064105	0.12427	N	-0.903742849511119	0.10754	0.5154663	-1.10457531869887	0.07612	0.3709596	1.19072914003558E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.51	-0.517	0.11350	-1.219000	0.03083	-20.000000	0.00162	-2.840000	0.00175	0.467000	0.26699	0.000000	0.08366	0.000000	0.00833	0.0:0.6029:0.0:0.3971	4.489	0.11213	500	0.76024	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.03125	63.98	55	chr4	87615974	.	C	A	63.98	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=1;MLEAF=0.031;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:1|0:87615911_A_C:75,0,116:87615911	15	0	1	3
chr4	87616286	87616304	TGACAGCAGTGACAGCAGC	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	288	1156	28	4	46	82	0.0153322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2652.39	57	chr4	87616286	.	TGACAGCAGTGACAGCAGC	*	2652.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=998;ExcessHet=2.9153;FS=8.113;InbreedingCoeff=-0.2107;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=0;QD=8.42;ReadPosRankSum=0.262;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,31:62:99:0|1:87616223_T_C:1181,0,1166:87616223	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	0/1:76,52:128:99:383,0,1355	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	0/1:62,20:100:99:.:.:112,0,1923:.	2	0	17	0
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	315.14	51	chr4	99347058	.	C	G	315.14	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.636;DP=1370;ExcessHet=0.3672;FS=259.16;InbreedingCoeff=-0.118;MLEAC=3;MLEAF=0.088;MQ=59.9;MQRankSum=0.561;QD=1.08;ReadPosRankSum=0.432;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,20:105:66:.:.:66,0,2096:.	14	0	3	2
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C,CENPE:NM_001813:exon43:c.C6974G:p.S2325C	.	440	1031	46	5	0	56	0.02644	.	.	.	363639	CENPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.015152	0.006793	0.014620	0.100000	0.017241	0.015244	0.053030	0.05263	2223.83	110	chr4	103123040	.	G	C	2223.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.29;DP=778;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.432;SOR=0.72	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1036,0,1067	17	0	2	0
chr4	123256160	123256160	G	T	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001345856:exon15:c.G2482T:p.D828Y,SPATA5:NM_145207:exon15:c.G2485T:p.D829Y	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	434	1061	26	1	0	28	0.0130233	.	.	.	428275	not_provided|not_specified|Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.512	.	0.0042	0.0071885	0.0102	0.0021	0.0492	0.0030	0.0023	0.0069	0.0066	0.0086	0.0094759	1465	154602	rs35206443	0.0078	0.0078	0.0080	0.0077	0.0420	0.0077	0.0077	0.0404	0.0397	0.0019	0.0420	0.0084	0.0025	0.0029	0.0198	0.0069	0.0080	0.0091	0.0063	0.0063	0.0065	0.0061	0.0186	0.0060	0.0059	0.0168	0.0161	0.0024	0	0.0186	0.0072	0.0042	0.0027	0.0442	0.0062	0.0118	0.0083	0.001	0.78490	D	0.003	0.76473	D	0.489	0.36925	P	0.313	0.41496	B	0.002152	0.37138	N	0.163302	0.783887	0.29302	N	.	.	.	-3.57	0.94904	D	-5.03	0.82575	D	0.665	0.67391	0.242	0.86605	D	0.638	0.87336	D	10	0.0061918497	0.00139	T	.	.	.	0.512	0.79094	.	.	.	.	0.5655072548150628	0.56477	0.347071527529	0.36602	0.335899531841	0.15823	T	0.229589	0.59544	T	-0.155933	0.27387	T	0.0360934	0.72673	D	0.0574242337123736	0.06757	T	0.956304	0.83415	D	0.71545744	0.78909	0.61800754	0.77756	0.71545744	0.78911	0.61800754	0.77757	-8.504	0.64456	D	0.38576921051272656	0.47959	0.115	0.23005	B	.	.	2.707522	0.35383	19.88	0.81853234395700014	0.13893	0.69723	0.34301	D	AEFDBI	0.118458	0.23162	N	-0.283515088858939	0.29784	1.654859	-0.341584590906976	0.26770	1.480833	0.444252778732634	0.20480	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.87	3.08	0.34576	1.284000	0.32855	6.572000	0.55971	0.676000	0.76740	0.930000	0.32276	1.000000	0.68203	0.064000	0.16252	0.0:0.4705:0.5295:0.0	15.582	0.76195	127	0.94899	.	.	.	.	.	.	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	0.014602	0.025253	0.020380	0.011696	0.000000	0.008621	0.003049	0.011364	0.02632	1992.33	35	chr4	123256160	.	G	T	1992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=851;ExcessHet=0;FS=4.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.682;SOR=1.014	GT:AD:DP:GQ:PL	0/1:110,83:193:99:2006,0,2781	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|1:66,27:93:99:0|1:140563137_C_G:270,0,2040:140563137	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|1:66,27:93:99:0|1:140563137_C_G:270,0,2040:140563137	1	0	18	0
chr4	143624338	143624338	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon4:c.G5423A:p.S1808N	.	.	.	.	.	.	.	.	0.0579	0.29	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271234734	5.118e-06	4.79e-06	4.336e-06	5.918e-06	3.812e-05	2.13e-06	1.37e-06	1.012e-05	4.81e-06	0	2.817e-05	0	0	0	0	1.88e-06	1.744e-05	3.812e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.15	0.32461	T	.	.	.	.	.	.	0.000038	0.55875	U	0.116075	0.999869	0.50061	D	2.47	0.71715	M	1.53	0.30401	T	-1.72	0.40850	N	0.258	0.29197	-1.1057	0.03467	T	0.076	0.30429	T	8	0.31415027	0.48859	T	0.007896	0.20955	T	0.048	0.13305	0.59	0.71874	0.415947407303	0.41207	0.36113444459889427	0.36027	.	.	0.394913613796	0.24359	T	0.003494	0.02899	T	-0.362193	0.04008	T	-0.630263	0.10395	T	0.570353627204895	0.35248	D	0.826217	0.48957	T	0.18150899	0.39325	0.1678141	0.38693	0.18150899	0.39324	0.1678141	0.38693	-5.786	0.44452	T	.	.	0.119	0.24396	B	.	.	2.693050	0.35159	19.82	0.9888542077026321	0.47895	0.83319	0.42446	D	AEFBI	0.451145	0.50524	N	0.280421458973842	0.55156	3.679972	0.219111162507489	0.50906	3.278086	0.00198276091105326	0.09061	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.07	2.24	0.27264	2.296000	0.43245	1.052000	0.23646	0.599000	0.40250	1.000000	0.71638	0.790000	0.26855	0.909000	0.44452	0.0:0.7508:0.1566:0.0926	8.356	0.31493	840	0.37365	Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	487.33	34	chr4	143624338	.	C	T	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.823;DP=683;ExcessHet=0;FS=3.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.19;SOR=1.755	GT:AD:DP:GQ:PL	0/1:17,17:34:99:501,0,423	18	0	1	0
chr4	151174946	151174946	G	C	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon1:c.C418G:p.P140A,SH3D19:NM_001378128:exon6:c.C418G:p.P140A,SH3D19:NM_001378131:exon6:c.C418G:p.P140A,SH3D19:NM_001009555:exon7:c.C418G:p.P140A,SH3D19:NM_001128923:exon7:c.C418G:p.P140A,SH3D19:NM_001243349:exon7:c.C418G:p.P140A,SH3D19:NM_001378121:exon7:c.C1258G:p.P420A,SH3D19:NM_001378122:exon7:c.C1258G:p.P420A,SH3D19:NM_001378126:exon7:c.C418G:p.P140A,SH3D19:NM_001378127:exon7:c.C418G:p.P140A,SH3D19:NM_001378130:exon7:c.C418G:p.P140A,SH3D19:NM_001378124:exon8:c.C1081G:p.P361A,SH3D19:NM_001378129:exon8:c.C418G:p.P140A,SH3D19:NM_001378123:exon9:c.C1081G:p.P361A	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.016207777088	7.7e-05	.	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0008	0.0002975	46	154602	rs371516037	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	8.961e-05	8.944e-05	3.827e-05	0	1.872e-05	0.0031	0.0001	0.0004	0.0018	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	2.413e-05	0	0.0005	0	0	0	0.0032	0.0002	0.0005	0.0006	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.001841	0.37892	N	0.189775	0.999511	0.47363	D	2.51	0.73131	M	3.43	0.05440	T	-2.5	0.64478	D	0.481	0.65245	-1.2279	0.00034	T	0.061	0.25419	T	10	0.095012814	0.16939	T	0.016208	0.37354	T	0.270	0.58507	.	.	0.62732496935	0.62428	0.20923431588654354	0.20839	0.501798849962	0.48557	0.438127875328	0.30322	T	0.174194	0.52333	T	-0.359645	0.04150	T	-0.295858	0.45159	T	0.112191508850573	0.13649	T	0.90031	0.65351	D	0.11249227	0.26575	0.18727976	0.41951	0.11249227	0.26575	0.18727976	0.41950	-8.044	0.62330	D	.	.	0.141	0.57230	B	.;.;.;.;.;.	.;.;.;.;.;.	4.459472	0.69394	25.4	0.99124700893051321	0.53089	0.98921	0.88653	D	AEFDBI	0.699642	0.65692	D	0.61308048670061	0.74000	6.059056	0.550264342014769	0.71414	5.651501	0.999999973650614	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.887000	0.75425	11.906000	0.99484	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.0:0.0:1.0:0.0	20.305	0.98628	602	0.67834	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.003788	0.05263	3716.83	35	chr4	151174946	.	G	C	3716.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.27;DP=918;ExcessHet=0.119;FS=1.325;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.418;SOR=0.615	GT:AD:DP:GQ:PL	0/1:83,74:157:99:1880,0,2090	17	0	2	0
chr4	152411469	152411471	TCC	-	exonic	FBXW7	.	nonframeshift deletion	FBXW7:NM_033632:exon2:c.333_335del:p.E111del,FBXW7:NM_001257069:exon4:c.333_335del:p.E111del,FBXW7:NM_001349798:exon4:c.333_335del:p.E111del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.16e-06	6.157e-06	9.533e-06	2.752e-06	8.096e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.096e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2572.29	33	chr4	152411468	.	ATCC	A	2572.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.509;DP=750;ExcessHet=0;FS=3.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.27;ReadPosRankSum=-0.049;SOR=0.392	GT:AD:DP:GQ:PL	0/1:40,66:106:99:2586,0,1481	18	0	1	0
chr4	154609725	154609725	C	T	exonic	FGG	.	nonsynonymous SNV	FGG:NM_000509:exon6:c.G571A:p.G191R,FGG:NM_021870:exon6:c.G571A:p.G191R	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive	428	1092	2	0	0	2	0.000914913	.	.	.	31417	not_specified|not_provided|Congenital_afibrinogenemia|Fibrinogen_Milano_XII,_digenic|Familial_dysfibrinogenemia|Hypofibrinogenemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MedGen:C4016097|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.785	.	0.0038	0.00279553	0.0027	0.0010	0.0020	0	0.0002	0.0043	0.0011	0.0002	0.0030401	470	154602	rs6063	0.0039	0.0039	0.0040	0.0039	0.0047	0.0038	0.0038	0.0045	0.0045	0.0008	0.0027	0.0047	0	0.0004	0.0026	0.0047	0.0038	0.0002	0.0033	0.0033	0.0037	0.0030	0.0054	0.0031	0.0030	0.0049	0.0047	0.0010	0	0.0042	0.0058	0	0.0002	0.0102	0.0054	0.0061	0	0.012	0.65419	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	3.555	0.93317	H	-5.31	0.98979	D	-3.64	0.72471	D	0.97	0.98368	0.710	0.93305	D	0.966	0.98900	D	10	0.0155365765	0.00326	T	.	.	.	0.785	0.92868	0.691	0.82843	0.984971989825	0.98481	0.9014073804427019	0.90112	0.880022515996	0.69735	0.713179349899	0.69054	T	0.501586	0.82173	D	0.209774	0.74808	D	0.531856	0.95255	D	0.0524031467930075	0.05917	T	0.963604	0.86607	D	0.9250398	0.93742	0.6358229	0.78738	0.9235285	0.93593	0.7170355	0.83298	-9.759	0.72675	D	0.7009559900131045	0.77992	0.808	0.84068	P	.;.;.;.;.;.	.;.;.;.;.;.	5.151729	0.86294	28.9	0.99940767237442985	0.99797	0.98344	0.81832	D	AEFBCI	0.971014	0.99317	D	0.942128346374213	0.93665	12.19247	0.865898429468177	0.93910	12.36683	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	7.622000	0.82286	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	19.271	0.93996	753	0.51500	.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	0.005035	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1943.33	35	chr4	154609725	.	C	T	1943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.23;SOR=0.644	GT:AD:DP:GQ:PL	0/1:57,76:133:99:1957,0,1290	18	0	1	0
chr4	156970791	156970791	T	C	exonic	PDGFC	.	nonsynonymous SNV	PDGFC:NM_016205:exon1:c.A113G:p.Q38R	.	419	1095	8	0	0	8	0.00363967	.	.	.	698404	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0304779678671	0.0049	0.00179712	0.0045	0.0012	0.0020	0	0.0032	0.0070	0.0055	0.0011	0.0046312	716	154602	rs139145392	0.0056	0.0056	0.0057	0.0055	0.0067	0.0055	0.0054	0.0066	0.0066	0.0009	0.0021	0.0004	0	0.0038	0.0019	0.0067	0.0036	0.0009	0.0045	0.0046	0.0046	0.0045	0.0076	0.0043	0.0041	0.0071	0.0069	0.0012	0.0066	0.0036	0.0006	0	0.0036	0.0102	0.0076	0.0066	0.0008	0.359	0.11957	T	0.28	0.21678	T	0.046	0.21875	B	0.029	0.21540	B	0.003383	0.35013	N	0.123153	0.941684	0.81001	D	0.895	0.22405	L	2.5	0.15028	T	-0.22	0.10480	N	0.368	0.59986	-1.0636	0.10878	T	0.021	0.08778	T	10	0.005934298	0.00133	T	0.030478	0.52780	D	0.088	0.25558	.	.	0.355939216326	0.35206	0.46646239448598964	0.46565	0.335273972475	0.35535	0.42699226737	0.28798	T	0.189267	0.54343	T	-0.49828	0.00584	T	-0.47749	0.24713	T	0.0131331181288612	0.00231	T	0.714629	0.32694	T	0.12947892	0.30239	0.09102277	0.21379	0.12947892	0.30239	0.09102277	0.21379	-2.921	0.11632	T	.	.	0.098	0.16275	B	.;.	.;.	2.197193	0.28021	17.66	0.59955452517554197	0.06347	0.86685	0.46018	D	ALL	0.425251	0.49009	N	-0.643716359110155	0.17643	0.9096266	-0.57135197768049	0.20242	1.089644	0.999999978345604	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	5.12	1.09	0.19517	3.813000	0.55340	3.292000	0.37313	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0712:0.2708:0.658	7.428	0.26286	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1288.33	33	chr4	156970791	.	T	C	1288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=742;ExcessHet=0;FS=4.392;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.655;SOR=0.796	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1302,0,1589	18	0	1	0
chr4	163854046	163854046	G	T	exonic	MARCHF1	.	nonsynonymous SNV	MARCHF1:NM_001166373:exon3:c.C86A:p.A29D	.	.	.	.	.	.	.	.	.	.	.	3281389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00485850447366	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs201095700	9.751e-05	9.303e-05	8.27e-05	0.0001	0.0006	8.402e-05	7.846e-05	0.0004	0.0004	0	0.0001	0	0	0	0.0004	6.582e-05	0.0002	0.0006	0.0001	0.0001	0.0002	9.417e-05	0.0006	8.17e-05	6.726e-05	0.0002	8.989e-05	0	0	0.0003	0	0	0	0	0.0002	0	0.0006	0.018	0.78490	D	0.429	0.63918	T	0.008	0.14655	B	0.02	0.19048	B	0.111747	0.02646	N	1.798220	1	0.08975	N	0.345	0.11182	N	1.86	0.39781	T	-0.42	0.14193	N	0.246	0.43029	-0.9992	0.30143	T	0.063	0.26244	T	10	0.04449776	0.03414	T	0.004859	0.12192	T	0.059	0.16972	0.279	0.23323	0.429091045357	0.42525	0.6148122128033549	0.61413	0.58140267316	0.53940	0.396922051907	0.24641	T	0.031463	0.22053	T	-0.402507	0.02229	T	-0.471011	0.25406	T	0.0420384478285923	0.04063	T	0.657134	0.26688	T	0.15714885	0.35426	0.15282731	0.35939	0.15714885	0.35425	0.15282731	0.35938	-3.215	0.12665	T	.	.	0.119	0.50063	B	.;.;.;.	.;.;.;.	3.739634	0.53540	23.4	0.98014419518215123	0.37582	0.67686	0.33523	D	AEFI	0.135558	0.25593	N	-0.601953859034301	0.18886	0.9841045	-0.446290597499839	0.23653	1.29109	2.53468366320355E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	4.49	0.54177	2.199000	0.42348	5.046000	0.46955	0.676000	0.76740	0.914000	0.31788	1.000000	0.68203	0.917000	0.45243	0.0968:0.1705:0.7327:0.0	7.743	0.28017	980	0.04108	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	859.33	33	chr4	163854046	.	G	T	859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=704;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.094;SOR=0.601	GT:AD:DP:GQ:PL	0/1:49,38:87:99:873,0,1204	18	0	1	0
chr4	168421789	168421789	C	T	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon17:c.G2365A:p.G789R,DDX60L:NM_001291510:exon17:c.G2365A:p.G789R,DDX60L:NM_001345927:exon17:c.G2365A:p.G789R,DDX60L:NM_001378072:exon18:c.G2365A:p.G789R	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0166254589882	.	.	7.422e-05	0	8.639e-05	0	0	0.0001	0	6.058e-05	5.82e-05	9	154602	rs375977740	6.567e-05	6.567e-05	6.534e-05	6.6e-05	0.0014	5.495e-05	5.107e-05	0.0007	0.0005	2.987e-05	6.708e-05	0	0	0	0.0014	6.385e-05	0.0001	5.797e-05	5.911e-05	5.906e-05	6.425e-05	5.373e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	7.218e-05	0	0	0	0	9.43e-05	0	5.88e-05	0	0.0002	0.005	0.72154	D	0.003	0.92824	D	.	.	.	.	.	.	0.001619	0.38497	U	0.000000	0.658597	0.33030	D	.	.	.	2.5	0.14408	T	-6.13	0.92173	D	0.59	0.62357	-0.8646	0.50930	T	0.092	0.35119	T	10	0.39681447	0.55285	T	0.016625	0.37977	T	0.243	0.54921	0.621	0.75576	0.163833314356	0.15978	0.31295354729866975	0.31208	0.193922154726	0.21726	0.499893784523	0.38813	T	0.069889	0.33824	T	-0.232354	0.16338	T	-0.366987	0.37240	T	0.731299996376038	0.42277	D	0.969303	0.88939	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.67877	A	.;.;.;.	.;.;.;.	3.052641	0.40963	21.3	0.99833107683497135	0.91456	0.03827	0.09170	N	ALL	0.292228	0.40315	N	0.173487452203899	0.49930	3.188009	-0.00115636148338605	0.39665	2.355187	1.0	0.98316	0.730579	0.87903	0	0.588015	0.36545	0	0.550215	0.18615	0	0.648885	0.59868	0	.	.	3.96	3.96	0.45097	2.295000	0.43236	1.275000	0.25315	0.433000	0.20966	0.606000	0.27796	0.002000	0.18203	0.008000	0.08271	0.0:1.0:0.0:0.0	15.611	0.76461	975	0.05339	.;.;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-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	.	.	.	.	.	.	.	.	0.02632	1161.33	34	chr4	168421789	.	C	T	1161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=781;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.99;SOR=1.089	GT:AD:DP:GQ:PL	0/1:89,51:140:99:1175,0,2134	18	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,20:69:99:0|1:168898668_T_C:225,0,895:168898668	13	0	6	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,10:67:82:0|1:176711629_G_C:82,0,2161:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,11:68:89:0|1:176711629_G_C:89,0,2159:176711629	4	0	14	1
chr5	13708175	13708175	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon76:c.G13286A:p.R4429Q	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1521	1	0	0	1	0.000328623	.	.	YES	239720	not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	.	.	0.0145767	0.0048	0.0002	8.637e-05	0.0374	0	1.498e-05	0.0022	0.0156	0.0045342	701	154602	rs61744047	0.0028	0.0028	0.0025	0.0032	0.0650	0.0027	0.0027	0.0629	0.0620	0.0002	0.0001	0	0.0650	0	0.0007	3.957e-05	0.0043	0.0139	0.0025	0.0025	0.0022	0.0028	0.0532	0.0023	0.0022	0.0480	0.0460	0.0003	0	0.0001	0	0.0532	0	0	2.94e-05	0.0043	0.0160	0.059	0.37536	T	.	.	.	0.403	0.34918	B	0.136	0.33270	B	0.000012	0.62929	D	0.063133	0.999997	0.58761	D	1.16	0.29674	L	2.99	0.09262	T	-3.71	0.70674	D	0.245	0.27673	-1.0772	0.07901	T	0.007	0.02598	T	10	0.004851371	0.00103	T	.	.	.	0.165	0.42395	.	.	0.460352466543	0.45661	0.6939686559687946	0.69337	0.304278428197	0.32738	0.371867269278	0.21099	T	0.292972	0.66568	T	-0.634641	0.00090	T	-0.613214	0.11725	T	0.0740065121336793	0.09202	T	0.952205	0.81731	D	0.33127418	0.55575	0.26494122	0.52321	0.33127418	0.55575	0.26494122	0.52320	-6.38	0.49353	T	0.2264646798833387	0.30606	0.129	0.27553	B	.	.	2.544298	0.32919	19.19	0.99811163669055092	0.89531	0.98484	0.83265	D	AEFBI	0.690343	0.65071	D	0.0708524088401553	0.45107	2.772815	0.146882943324375	0.46978	2.935029	0.999999999759286	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	4.22	0.49153	4.933000	0.63185	3.299000	0.37367	0.599000	0.40250	0.989000	0.36753	0.996000	0.32793	0.973000	0.55318	0.0:0.9261:0.0:0.0739	13.996	0.63917	811	0.42639	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	918.33	34	chr5	13708175	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=695;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.64;SOR=0.929	GT:AD:DP:GQ:PL	0/1:29,36:65:99:932,0,708	18	0	1	0
chr5	13718909	13718909	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon72:c.C12472T:p.R4158W	Ciliary dyskinesia, primary, 3, with or without situs inversus	3	1518	1	0	0	1	0.000329272	.	.	.	239723	not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.316	.	7.7e-05	0.0129792	0.0042	0.0002	0	0.0351	0	4.496e-05	0.0011	0.0123	0.0039974	618	154602	rs3756672	0.0022	0.0022	0.0019	0.0025	0.0475	0.0022	0.0021	0.0457	0.0450	0.0001	6.708e-05	0.0006	0.0475	0	0.0005	4.138e-05	0.0038	0.0123	0.0022	0.0022	0.0019	0.0025	0.0465	0.0020	0.0019	0.0417	0.0398	0.0002	0	0.0001	0.0009	0.0465	0	0	4.41e-05	0.0043	0.0143	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	D	0.061993	0.998206	0.44627	D	3.51	0.92865	H	2.99	0.09262	T	-6.42	0.91268	D	0.658	0.66787	-1.0708	0.09238	T	0.039	0.16892	T	10	0.012498289	0.00268	T	.	.	.	0.316	0.63799	.	.	0.585991418203	0.58272	0.8221156781767636	0.82168	0.449518881182	0.44739	0.535598218441	0.43824	T	0.470007	0.80330	T	-0.389344	0.02717	T	-0.282576	0.46539	T	0.145012849414531	0.16699	T	0.998009	0.99105	D	0.8367939	0.86380	0.8616253	0.92290	0.8367939	0.86381	0.8616253	0.92290	-11.268	0.81108	D	0.2582040056933206	0.34887	0.481	0.63712	A	.	.	4.931290	0.81297	27.5	0.99908310520359023	0.97875	0.96399	0.68947	D	AEFI	0.844126	0.76110	D	0.58883151624711	0.72476	5.811901	0.498288694468566	0.67876	5.143127	0.128981341113728	0.17051	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	3.84	0.43422	3.883000	0.55880	5.548000	0.48886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0904:0.0:0.5403:0.3693	6.896	0.23439	806	0.43582	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	830.33	33	chr5	13718909	.	G	A	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.599;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.68;SOR=0.592	GT:AD:DP:GQ:PL	0/1:37,37:74:99:844,0,852	18	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	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	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1053	7115.43	33	chr5	38933380	.	C	G	7115.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.67;DP=1141;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.513;SOR=0.681	GT:AD:DP:GQ:PL	0/1:78,73:151:99:1775,0,1973	15	0	4	0
chr5	42800764	42800764	G	A	exonic	SELENOP	.	unknown	UNKNOWN	.	421	1067	34	0	0	34	0.0156827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00119808	0.0038	0.0005	0.0034	0.0001	0.0080	0.0043	0.0044	0.0046	0.0035705	552	154602	rs28919926	0.0028	0.0028	0.0027	0.0030	0.0217	0.0028	0.0027	0.0186	0.0175	0.0007	0.0034	0.0064	7.573e-05	0.0070	0.0217	0.0024	0.0044	0.0046	0.0026	0.0026	0.0021	0.0031	0.0046	0.0024	0.0023	0.0031	0.0026	0.0006	0	0.0023	0.0075	0.0004	0.0058	0.0170	0.0030	0.0057	0.0046	0.006	0.61437	D	0.132	0.34477	T	.	.	.	.	.	.	0.073420	0.02276	N	2.028310	1	0.81001	D	0	0.06538	N	1.86	0.24285	T	-0.63	0.18459	N	.	.	-1.0518	0.13899	T	0.039	0.16720	T	8	0.0053276718	0.00117	T	.	.	.	0.080	0.23350	.	.	0.158396225186	0.15383	.	.	0.100324673575	0.11338	0.265668272972	0.05585	T	0.037531	0.24508	T	-0.494787	0.00612	T	-0.48117	0.24322	T	0.019768452463333	0.00679	T	0.505449	0.15971	T	0.10461975	0.24733	0.035460327	0.02801	0.10461975	0.24732	0.035460327	0.02800	.	.	.	.	.	.	.	.	.;.;.	.;.;.	1.783662	0.22680	15.72	0.94161102198599023	0.24367	0.73568	0.35985	D	AEFDBHCI	.	.	.	-0.68612997493368	0.16416	0.8361846	-0.627432514982187	0.18789	1.005286	0.911769160048033	0.26376	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.620846	0.47308	0	.	.	5.78	2.02	0.25641	0.703000	0.25321	1.930000	0.29765	-0.858000	0.02657	0.940000	0.32642	0.993000	0.31925	0.003000	0.05239	0.1149:0.1398:0.3231:0.4222	2.206	0.03695	412	0.82007	Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;Selenoprotein P, 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	0.018653	0.010101	0.016304	0.017483	0.000000	0.034483	0.021341	0.011364	0.05263	2881.83	44	chr5	42800764	.	G	A	2881.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.27;DP=852;ExcessHet=0.119;FS=1.065;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.13;SOR=0.796	GT:AD:DP:GQ:PL	0/1:68,39:107:99:1010,0,1690	17	0	2	0
chr5	42801077	42801077	C	T	exonic	SELENOP	.	unknown	UNKNOWN	.	417	1072	33	0	0	33	0.0151585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0023	0.00119808	0.0038	0.0005	0.0034	0	0.0080	0.0043	0.0045	0.0044	0.0035058	542	154602	rs146125471	0.0028	0.0028	0.0026	0.0030	0.0217	0.0028	0.0027	0.0186	0.0174	0.0006	0.0034	0.0064	5.038e-05	0.0070	0.0217	0.0024	0.0045	0.0046	0.0026	0.0026	0.0021	0.0031	0.0046	0.0024	0.0023	0.0031	0.0026	0.0005	0	0.0023	0.0075	0.0002	0.0058	0.0170	0.0030	0.0057	0.0046	0.258	0.16683	T	0.501	0.11153	T	.	.	.	.	.	.	0.002969	0.00929	N	4.932780	0.999997	0.08975	N	0.55	0.14455	N	1.98	0.21865	T	-0.12	0.10656	N	.	.	-1.0266	0.21560	T	0.032	0.13723	T	8	0.00429824	0.00086	T	.	.	.	0.043	0.11576	0.365	0.37199	0.0482279557977	0.04254	.	.	0.0781518737448	0.08793	0.238653287292	0.02670	T	0.037681	0.24563	T	-0.724005	0.00026	T	-0.810425	0.01656	T	0.00437265594384718	0.00047	T	0.377062	0.09013	T	0.044219453	0.07030	0.044099364	0.05638	0.044219453	0.07030	0.044099364	0.05637	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	0.286130	0.06629	3.123	0.87969429249463227	0.17617	0.10353	0.15883	N	AEFBHCI	0.177618	0.30486	N	-0.590136344076831	0.19243	1.005599	-0.650171381741476	0.18212	0.9719162	0.92380081443314	0.26756	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.64	2.34	0.28071	-0.045000	0.11957	-0.363000	0.09661	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1279:0.4232:0.2249:0.2241	2.094	0.03441	412	0.82007	Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;Selenoprotein P, 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	0.018135	0.005051	0.017663	0.017483	0.000000	0.034483	0.021341	0.011364	0.05263	3897.83	44	chr5	42801077	.	C	T	3897.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.96;DP=947;ExcessHet=0.119;FS=3.583;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.753;SOR=0.546	GT:AD:DP:GQ:PL	0/1:99,65:164:99:1600,0,2771	17	0	2	0
chr5	56911458	56911458	T	C	exonic	SETD9	.	nonsynonymous SNV	SETD9:NM_001171990:exon2:c.T388C:p.S130P,SETD9:NM_001323018:exon2:c.T310C:p.S104P,SETD9:NM_001323019:exon2:c.T388C:p.S130P,SETD9:NM_001323020:exon2:c.T310C:p.S104P,SETD9:NM_153706:exon2:c.T388C:p.S130P	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0209469799856	.	.	3.356e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs750367282	2.745e-05	2.941e-05	1.638e-05	3.864e-05	0.0002	2.069e-05	1.822e-05	0.0002	0.0001	0	4.59e-05	0	0	0	0.0002	1.261e-05	4.983e-05	0.0002	2.628e-05	2.627e-05	0	5.38e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.006	0.61437	D	0.008	0.69154	D	0.998	0.73220	D	0.938	0.67350	D	0.000004	0.62929	D	0.064527	0.999478	0.47197	D	2.79	0.81396	M	1.31	0.35405	T	-3.18	0.64478	D	0.55	0.59223	-0.7809	0.56252	T	0.190	0.54227	T	10	0.47575158	0.60132	T	0.020947	0.43640	T	0.251	0.56024	.	.	0.561332866315	0.55795	0.7166894168746345	0.71611	0.631749493559	0.57118	0.424542427063	0.28462	T	0.26198	0.63351	T	-0.129305	0.31609	T	-0.159086	0.58434	T	0.720199048519135	0.41709	D	0.741726	0.36078	T	0.686959	0.77346	0.63668424	0.78786	0.686959	0.77347	0.63668424	0.78787	-9.51	0.71269	D	.	.	0.540	0.69354	A	.;.	.;.	4.080832	0.60700	24.2	0.99870194081180252	0.94815	0.93546	0.58512	D	AEFBCI	0.750789	0.69180	D	0.436952451056007	0.63466	4.580969	0.365052045804425	0.59419	4.119597	0.999998879686168	0.74766	0.653281	0.48532	0	0.627608	0.54475	0	0.696353	0.63694	0	0.669	0.65921	0	.	.	5.17	3.99	0.45527	2.868000	0.48134	4.839000	0.45267	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.1349:0.0:0.0:0.8651	11.450	0.49392	932	0.16191	SET domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	904.33	41	chr5	56911458	.	T	C	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=810;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.052;SOR=0.941	GT:AD:DP:GQ:PL	0/1:49,37:86:99:918,0,1342	18	0	1	0
chr5	56911480	56911480	G	T	exonic	SETD9	.	nonsynonymous SNV	SETD9:NM_001171990:exon2:c.G410T:p.G137V,SETD9:NM_001323018:exon2:c.G332T:p.G111V,SETD9:NM_001323019:exon2:c.G410T:p.G137V,SETD9:NM_001323020:exon2:c.G332T:p.G111V,SETD9:NM_153706:exon2:c.G410T:p.G137V	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.067729239817	7.7e-05	0.00119808	0.0011	0	0.0017	0	0.0009	0.0004	0.0034	0.0052	0.0009056	140	154602	rs149334074	0.0007	0.0007	0.0006	0.0008	0.0051	0.0006	0.0006	0.0047	0.0045	9.123e-05	0.0006	3.895e-05	0	0.0006	0.0028	0.0004	0.0007	0.0051	0.0004	0.0004	0.0003	0.0006	0.0064	0.0003	0.0003	0.0046	0.0040	0	0	0	0	0	0.0007	0.0102	0.0003	0.0014	0.0064	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.25	0.59449	T	-7.95	0.96317	D	0.968	0.98065	-0.0949	0.80216	T	0.409	0.75810	T	10	0.066066176	0.09006	T	0.067729	0.70250	D	0.628	0.85666	.	.	0.709593456008	0.70705	0.9505551696146641	0.95039	0.866952392117	0.69245	0.58598959446	0.50930	T	0.501729	0.82182	D	0.00614425	0.52499	T	0.236453	0.84981	D	0.194139614701271	0.20085	T	0.927707	0.73352	D	0.88419145	0.90015	0.7981797	0.88155	0.88419145	0.90016	0.7981797	0.88156	-14.856	0.95506	D	.	.	0.891	0.82402	P	.;.	.;.	4.562653	0.71907	25.7	0.99799438270208862	0.88461	0.95916	0.66708	D	AEFBCI	0.806688	0.73093	D	0.723295849729994	0.81158	7.457481	0.670792337154778	0.80168	7.239121	0.999999999824983	0.74766	0.653281	0.48532	0	0.627608	0.54475	0	0.696353	0.63694	0	0.669	0.65921	0	.	.	5.56	4.68	0.58319	6.366000	0.73033	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8652:0.1348	16.041	0.80483	932	0.16191	SET domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1070.33	41	chr5	56911480	.	G	T	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.662;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-2.258;SOR=0.657	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1084,0,748	18	0	1	0
chr5	60898280	60898280	G	T	exonic	ERCC8	.	nonsynonymous SNV	ERCC8:NM_001290285:exon8:c.C380A:p.T127K,ERCC8:NM_000082:exon9:c.C839A:p.T280K,ERCC8:NM_001007233:exon10:c.C665A:p.T222K	Cockayne syndrome, type A, Autosomal recessive;UV-sensitive syndrome 2, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	196149	not_specified|Hereditary_breast_ovarian_cancer_syndrome|ERCC8-related_disorder|not_provided|Cockayne_syndrome_type_1	MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.|MedGen:C3661900|MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.565	0.068002926487	0.0027	0.00119808	0.0019	0.0007	0.0017	0	0.0005	0.0026	0	0.0018	0.0019146	296	154602	rs61754098	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0014	3.83e-05	0	0.0005	0.0010	0.0029	0.0024	0.0022	0.0020	0.0020	0.0022	0.0017	0.0035	0.0018	0.0017	0.0029	0.0028	0.0009	0	0.0015	0	0	0.0002	0	0.0033	0.0005	0.0035	0.004	0.65419	D	0.007	0.69154	D	0.996	0.68779	D	0.486	0.47228	P	0.000000	0.84330	D	0.050026	1	0.81001	D	2.545	0.74286	M	-0.42	0.69536	T	-4.36	0.76980	D	0.921	0.92433	-0.3575	0.73336	T	0.342	0.70746	T	10	0.060192406	0.07354	T	0.068003	0.70327	D	0.565	0.82232	.	.	0.886987068134	0.88587	0.6238410813809472	0.62317	0.073066079033	0.08188	0.692285716534	0.66034	T	0.383124	0.74505	T	0.0175246	0.54047	T	0.248093	0.85527	D	0.0289739182042587	0.01833	T	0.916908	0.70254	D	0.72816336	0.79620	0.520479	0.72295	0.7420828	0.80413	0.5547589	0.74249	-11.282	0.81182	D	.	.	0.424	0.60894	A	.	.	4.713002	0.75728	26.4	0.99272038801577867	0.57593	0.96910	0.71608	D	AEFBI	0.781376	0.71298	D	0.30499098390633	0.56406	3.805093	0.302883129158695	0.55707	3.733703	0.998182138094602	0.36545	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.03	4.16	0.48138	7.496000	0.80367	9.888000	0.82251	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0774:0.0:0.9226:0.0	13.182	0.59084	847	0.35998	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	1	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	498.33	35	chr5	60898280	.	G	T	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=652;ExcessHet=0;FS=3.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.635;SOR=1.457	GT:AD:DP:GQ:PL	0/1:14,18:32:99:512,0,284	18	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,17:87:24:.:.:24,0,1549:.	9	0	10	0
chr5	75690473	75690473	C	G	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon7:c.G810C:p.Q270H,POC5:NM_001099271:exon8:c.G885C:p.Q295H	.	433	1087	2	0	0	2	0.000919118	.	.	.	2697434	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0135798939672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	1.363e-06	2.757e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.251e-05	0	0	0	0.0002	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20306	T	0.252	0.23570	T	0.031	0.26188	B	0.032	0.22131	B	0.068947	0.21638	N	0.540943	0.999587	0.20930	N	1.495	0.37439	L	1.97	0.43672	T	-1.67	0.39887	N	0.103	0.17002	-1.0418	0.16770	T	0.078	0.31224	T	10	0.10446766	0.19262	T	0.01358	0.33091	T	0.026	0.05648	0.261	0.20473	0.107399877778	0.10242	0.036242608500534575	0.03571	0.355241053622	0.37286	0.296609461308	0.09896	T	0.003693	0.20413	T	-0.310544	0.07700	T	-0.683852	0.06751	T	0.0573831788661172	0.06750	T	0.774123	0.43084	T	0.034440037	0.03864	0.057626154	0.10508	0.034440037	0.03864	0.057626154	0.10508	-4.655	0.36622	T	.	.	0.187	0.40295	B	.;.;.;.	.;.;.;.	0.755715	0.11254	7.883	0.58431567854926203	0.05992	0.41280	0.26622	N	AEFBI	0.065465	0.12770	N	-1.12520271196974	0.06198	0.2846589	-1.09959368335333	0.07709	0.3760457	3.96555459031743E-4	0.06820	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.85	-0.318	0.12098	-0.054000	0.11783	-1.925000	0.04487	-0.837000	0.02821	0.733000	0.28953	0.000000	0.08366	0.436000	0.27583	0.0:0.3757:0.191:0.4333	7.007	0.24021	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1206.33	33	chr5	75690473	.	C	G	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.629;DP=753;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.122;SOR=0.624	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1220,0,1503	18	0	1	0
chr5	79791029	79791029	G	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon11:c.G11749C:p.G3917R	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0144334920719	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0003	0.0035	0.0032	0.0005369	83	154602	rs200251867	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	2.237e-05	0	0	1.873e-05	0.0012	0.0003	0.0006	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.624e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0027	0.053	0.38863	T	0.007	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.712277	0.33531	D	0.45	0.12780	N	2.54	0.13916	T	-4.25	0.76094	D	0.777	0.77413	-0.9310	0.43992	T	0.047	0.20235	T	9	0.06256446	0.08018	T	0.014433	0.34542	T	0.228	0.52768	0.429	0.47680	0.490282680104	0.48660	0.43527896108451636	0.43444	0.0677024119643	0.07574	0.652367353439	0.60322	T	0.045767	0.27224	T	-0.48586	0.00685	T	-0.472471	0.25251	T	0.0931471727865737	0.11586	T	0.824218	0.48580	T	0.2376065	0.46627	0.2638827	0.52200	0.2376065	0.46627	0.2638827	0.52199	-6.313	0.48824	T	.	.	0.441	0.61750	A	.	.	4.015372	0.59269	24.1	0.98584967116556244	0.43297	0.98004	0.78799	D	AEFBI	0.635162	0.61477	D	0.379240412339841	0.60297	4.217277	0.4077176253207	0.62044	4.413534	0.0688708157179204	0.15472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.05	5.18	0.71140	5.101000	0.64402	9.795000	0.81665	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.067:0.0:0.933:0.0	15.268	0.73371	480	0.77422	B30.2/SPRY 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	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	1213.33	33	chr5	79791029	.	G	C	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.52;DP=755;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.385;SOR=0.472	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1227,0,997	18	0	1	0
chr5	96412380	96412380	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G820A:p.G274R,PCSK1:NM_001177875:exon7:c.G679A:p.G227R	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40395133694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	-1.51	0.81399	D	-7.85	0.96058	D	0.949	0.99100	0.823	0.94700	D	0.790	0.92896	D	10	0.98368526	0.98520	D	0.403951	0.93457	D	0.929	0.98304	0.914	0.98346	0.94146576268	0.94086	0.9268507850302136	0.92663	1.02087520744	0.75113	0.918705880642	0.98223	D	0.835304	0.96107	D	0.442034	0.92117	D	0.397175	0.92020	D	0.999790370464325	0.99036	D	0.992876	0.97681	D	0.9671122	0.97986	0.944418	0.98053	0.9671122	0.97986	0.944418	0.98053	-14.313	0.94520	D	.	.	0.999	0.98504	P	.;.	.;.	5.439492	0.90915	32	0.99946147601129243	0.99901	0.97918	0.78116	D	AEFDBI	0.956575	0.97521	D	1.02105448582345	0.96356	14.596	0.943111103787272	0.97191	15.730	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic 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	.	.	.	.	.	.	.	.	0.02941	131.28	137	chr5	96412380	.	C	T	131.28	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.749;DP=1302;ExcessHet=0.119;FS=203.146;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.851;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,13:121:99:.:.:144,0,3110:.	16	0	1	2
chr5	122077891	122077891	G	A	exonic	LOX	.	nonsynonymous SNV	LOX:NM_002317:exon1:c.C95T:p.P32L	Aortic aneurysm, familial thoracic 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1670643	not_provided|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0436908217118	.	.	0.0005	0	0	0.0065	0	9.601e-05	0	0	0.0001035	16	154602	rs780762236	4.217e-05	4.788e-05	3.595e-05	4.852e-05	0.0014	3.308e-05	3.025e-05	0.0011	0.0010	0	0	0	0.0014	0	0	7.425e-06	1.759e-05	0	6.573e-05	6.563e-05	6.429e-05	6.723e-05	0.0019	3.518e-05	2.617e-05	0.0011	0.0008	0	0	0	0	0.0019	0	0	0	0	0	0.005	0.63226	D	0.115	0.36630	T	0.645	0.40526	P	0.043	0.24256	B	0.028403	0.25606	N	0.366968	0.641371	0.30613	N	1.525	0.38595	L	1.93	0.22881	T	-2.12	0.48184	N	0.087	0.06454	-1.0372	0.18171	T	0.038	0.16333	T	10	0.010296494	0.00230	T	0.043691	0.61115	D	0.070	0.20419	0.234	0.16305	0.206203607746	0.20212	0.40339174519576115	0.40255	0.953332268801	0.72727	0.797413706779	0.81569	T	0.353451	0.72075	T	-0.521458	0.00432	T	-0.527672	0.19519	T	0.142082949608632	0.16453	T	0.748825	0.36981	T	0.06286038	0.13174	0.112666965	0.27185	0.06286038	0.13174	0.112666965	0.27185	-5.262	0.39566	T	0.2236724046985275	0.30196	0.101	0.17573	B	.;.	.;.	3.813425	0.55018	23.6	0.99469028455553665	0.66207	0.07465	0.13481	N	ALL	0.066640	0.13062	N	-0.584498424353166	0.19415	1.01593	-0.57225653421742	0.20217	1.088257	0.99999988715838	0.74766	0.623204	0.39778	0	0.491552	0.07993	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	4.34	2.37	0.28337	0.454000	0.21539	3.113000	0.36368	-0.326000	0.05813	0.991000	0.37257	1.000000	0.68203	0.533000	0.29776	0.0:0.1428:0.7287:0.1285	11.754	0.51132	690	0.58899	.;.	.	.	.	.	.	Likely benign	0	0	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	811.33	34	chr5	122077891	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.629;DP=743;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.124;SOR=0.811	GT:AD:DP:GQ:PL	0/1:44,34:78:99:825,0,1113	18	0	1	0
chr5	132591962	132591962	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon11:c.A1721G:p.K574R	Nijmegen breakage syndrome-like disorder	0	1521	1	0	0	1	0.000328623	.	.	YES	474196	Hereditary_cancer-predisposing_syndrome|Nijmegen_breakage_syndrome-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00524746421953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386858430	2.054e-06	2.052e-06	4.088e-06	0	2.701e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.293	0.34095	T	0.319	0.19188	T	0.009	0.15093	B	0.007	0.12992	B	0.000005	0.62929	N	0.142745	0.990663	0.41208	D	0.805	0.20218	L	0.67	0.52187	T	-1.21	0.30762	N	0.291	0.32921	-1.0088	0.27292	T	0.019	0.07846	T	10	0.11759701	0.22213	T	0.005247	0.13402	T	0.061	0.17616	0.384	0.40298	0.656495786005	0.65362	0.15709509998225465	0.15630	.	.	0.531445086002	0.43238	T	0.113737	0.43101	T	-0.152405	0.27935	T	-0.456695	0.26959	T	0.580214619636536	0.35627	D	0.836316	0.52922	T	0.075641915	0.17055	0.10422045	0.25025	0.075641915	0.17054	0.10422045	0.25024	-3.477	0.16111	T	0.2798823583448002	0.37499	0.076	0.12371	B	.;.;.;.;.	.;.;.;.;.	2.309985	0.29567	18.16	0.99596893667955566	0.73983	0.78745	0.38897	D	AEBI	0.167421	0.29409	N	-0.212458707254212	0.32623	1.841739	-0.0183841812769987	0.38885	2.297425	0.711768953900814	0.22828	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.06	4.9	0.63643	2.687000	0.46643	7.045000	0.57350	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8637:0.0:0.1363:0.0	9.884	0.40422	831	0.39019	.;.;.;.;.	.	.	.	.	.	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	2227.33	33	chr5	132591962	.	A	G	2227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=787;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.618;SOR=0.564	GT:AD:DP:GQ:PL	0/1:85,95:180:99:2241,0,1915	18	0	1	0
chr5	132823884	132823884	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon4:c.G1777A:p.A593T,SHROOM1:NM_001172700:exon7:c.G1777A:p.A593T	.	421	1095	6	0	0	6	0.00273224	.	.	.	698775	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0101636520806	0.0051	0.00339457	0.0058	0.0013	0.0012	0	0.0098	0.0084	0.0039	0.0007	0.0052005	804	154602	rs144919403	0.0069	0.0068	0.0071	0.0068	0.0080	0.0068	0.0068	0.0078	0.0078	0.0011	0.0017	0.0011	0	0.0103	0.0004	0.0080	0.0058	0.0012	0.0049	0.0050	0.0051	0.0048	0.0079	0.0047	0.0045	0.0073	0.0071	0.0014	0.0022	0.0023	0.0006	0	0.0101	0	0.0079	0.0024	0.0025	0.28	0.15509	T	0.065	0.47097	T	0.229	0.30546	B	0.153	0.34292	B	0.832774	0.09093	N	0.912724	0.996853	0.22879	N	1.33	0.33268	L	1.49	0.31470	T	0.11	0.08495	N	0.125	0.19325	-0.9799	0.35025	T	0.046	0.19640	T	10	0.0046468377	0.00097	T	0.010164	0.26368	T	0.040	0.10527	.	.	0.328486982098	0.32448	0.20545923466704794	0.20462	0.0323555157115	0.03379	0.358799874783	0.19210	T	0.014986	0.12654	T	-0.614697	0.00119	T	-0.648355	0.09069	T	0.0120771322648374	0.00191	T	0.612239	0.23293	T	0.03552469	0.04196	0.04293744	0.05227	0.03552469	0.04196	0.04293744	0.05227	-4.957	0.36370	T	.	.	0.084	0.14979	B	.;.;.;.	.;.;.;.	1.343556	0.17504	13.20	0.99133206960837394	0.53329	0.21053	0.21264	N	AEFDBCI	0.097129	0.19596	N	-0.620076997169917	0.18342	0.951481	-0.612563704858537	0.19170	1.027357	0.999945822850924	0.47345	0.646311	0.45356	0	0.627178	0.54094	0	0.619478	0.44681	0	0.699875	0.68795	0	.	.	4.89	0.873	0.18254	0.175000	0.16577	-0.751000	0.07577	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.890000	0.42831	0.1587:0.5713:0.0:0.27	4.283	0.10288	908	0.22609	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2;.;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2020.33	113	chr5	132823884	.	C	T	2020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.27;DP=1297;ExcessHet=0;FS=2.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.468;SOR=0.811	GT:AD:DP:GQ:PL	0/1:71,81:152:99:2034,0,1851	18	0	1	0
chr5	138011837	138011837	A	G	exonic	FAM13B	.	nonsynonymous SNV	FAM13B:NM_001101801:exon4:c.T125C:p.V42A,FAM13B:NM_001101800:exon5:c.T479C:p.V160A,FAM13B:NM_016603:exon5:c.T479C:p.V160A	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0008	0.00359425	0.0002	0.0025	8.651e-05	0	0	0	0	0	0.000304	47	154602	rs112167634	0.0001	0.0001	0.0001	9.229e-05	0.0035	9.066e-05	8.548e-05	0.0029	0.0028	0.0035	0.0001	0	0	0	0.0002	0	0.0004	4.664e-05	0.0008	0.0008	0.0007	0.0008	0.0026	0.0006	0.0006	0.0022	0.0021	0.0026	0	0.0003	0	0	0	0	0	0.0005	0.0002	0.002	0.72154	D	0.0	0.92824	D	0.997	0.73220	D	0.965	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.455	0.92281	M	1.38	0.34050	T	-2.32	0.51478	N	0.892	0.89131	-0.4148	0.71557	T	0.141	0.46072	T	10	0.022152573	0.00546	T	.	.	.	0.621	0.85301	.	.	0.373944490328	0.37009	0.6669409627214516	0.66632	0.58392671646	0.54087	0.800362825394	0.82017	T	0.160778	0.50476	T	-0.0413128	0.45753	T	0.162643	0.80968	D	0.159981324970179	0.17870	T	0.946005	0.81505	D	0.76118207	0.81523	0.74226403	0.84765	0.76118207	0.81524	0.74226403	0.84766	-9.809	0.72760	D	.	.	0.979	0.90945	P	.;.;.	.;.;.	5.480373	0.91371	32	0.9989575353613529	0.96895	0.98713	0.85906	D	AEFBI	0.822140	0.74254	D	0.956848439683073	0.94254	12.61639	0.887893611001896	0.95021	13.24322	0.999999921327755	0.74766	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	8.710000	0.91091	11.156000	0.87498	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.655	0.76881	491	0.76657	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	513.33	36	chr5	138011837	.	A	G	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.072;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.229;SOR=0.846	GT:AD:DP:GQ:PL	0/1:23,25:48:99:527,0,469	18	0	1	0
chr5	138445507	138445507	C	T	exonic	REEP2	.	nonsynonymous SNV	REEP2:NM_001271803:exon7:c.C605T:p.P202L,REEP2:NM_016606:exon7:c.C599T:p.P200L	.	414	1105	3	0	0	3	0.00135563	.	.	.	691725	Hereditary_spastic_paraplegia_72|not_provided	MONDO:MONDO:0014282,MedGen:C5882669,OMIM:615625,Orphanet:401849|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	.	0.0014	0.00439297	0.0005	0.0047	0.0002	0	0.0002	0.0002	0	0	0.0005563	86	154602	rs111927109	0.0003	0.0003	0.0003	0.0003	0.0065	0.0003	0.0002	0.0058	0.0055	0.0065	0.0002	0	5.038e-05	9.36e-05	0.0005	0.0001	0.0007	8.116e-05	0.0016	0.0016	0.0016	0.0015	0.0051	0.0014	0.0014	0.0045	0.0043	0.0051	0	0.0007	0	0	9.416e-05	0	0.0002	0.0014	0.0002	0.275	0.15770	T	0.274	0.22084	T	0.0	0.02946	B	0.0	0.01387	B	0.520366	0.11748	N	0.787170	0.658139	0.33026	D	1.245	0.31408	L	-2.15	0.86624	D	-0.75	0.21003	N	0.047	0.01911	-0.6804	0.61354	T	0.159	0.49228	T	10	0.0044332743	0.00091	T	.	.	.	0.284	0.60219	.	.	0.082315109003	0.07666	0.12269721794532144	0.12195	0.693671442879	0.60719	0.308271557093	0.11646	T	0.02229	0.17210	T	-0.453693	0.01074	T	-0.423522	0.30672	T	0.00226878040477666	0.00024	T	0.436356	0.11970	T	0.029321024	0.02408	0.029773753	0.01353	0.023332274	0.01065	0.027552588	0.00916	-2.839	0.08548	T	.	.	0.066	0.02257	B	.;.;.	.;.;.	0.102716	0.05038	1.586	0.47269321538261327	0.03852	0.21738	0.21507	N	AEFDBHI	0.178349	0.30561	N	-1.39088236766308	0.02723	0.120634	-1.35092825375313	0.03795	0.1777496	0.999982144868678	0.51787	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.14	2.68	0.30839	1.289000	0.32913	2.821000	0.34963	-1.928000	0.00501	0.097000	0.22731	1.000000	0.68203	0.003000	0.05239	0.5706:0.2905:0.0:0.1388	6.992	0.23940	375	0.84013	.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.011696	0.000000	0.017241	0.000000	0.000000	0.02632	1701.33	33	chr5	138445507	.	C	T	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.209;SOR=0.723	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1715,0,1477	18	0	1	0
chr5	138465994	138465994	-	CAG	exonic	EGR1	.	nonframeshift insertion	EGR1:NM_001964:exon1:c.233_234insCAG:p.S84_T85insS	.	305	1216	1	0	0	1	0.000411015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0004	0.0029	0.0006	0.0001	0	2.005e-05	0	0.0010	0.000304	47	154602	rs113180988	0.0003	0.0003	0.0003	0.0003	0.0048	0.0002	0.0002	0.0042	0.0040	0.0048	0.0006	0	0.0002	0	0.0007	8.201e-05	0.0007	0.0007	0.0014	0.0014	0.0014	0.0014	0.0040	0.0012	0.0012	0.0035	0.0034	0.0040	0	0.0021	0	0.0004	0	0	8.828e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1009.29	35	chr5	138465994	.	A	ACAG	1009.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.167;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-1.089;SOR=0.767	GT:AD:DP:GQ:PL	0/1:34,27:61:99:1023,0,1306	18	0	1	0
chr5	139389807	139389807	A	G	exonic	MZB1	.	nonsynonymous SNV	MZB1:NM_016459:exon1:c.T50C:p.I17T	.	419	1089	14	0	0	14	0.00638686	.	.	.	709653	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0073	0.00998403	0.0057	0.0369	0.0050	0	0	0.0028	0.0106	0.0006	0.00163	252	154602	rs114473756	0.0014	0.0013	0.0015	0.0013	0.0290	0.0013	0.0013	0.0275	0.0269	0.0290	0.0020	0.0034	0	6.232e-05	0.0173	0.0005	0.0031	0.0005	0.0090	0.0090	0.0091	0.0088	0.0293	0.0086	0.0084	0.0279	0.0273	0.0293	0.0088	0.0035	0.0029	0	0.0002	0.0170	0.0007	0.0081	0.0006	0.007	0.59928	D	0.009	0.66756	D	0.164	0.28467	B	0.04	0.23831	B	.	.	.	.	0.586492	0.32419	D	2.19	0.61577	M	.	.	.	0.03	0.06612	N	0.106	0.09066	-1.0449	0.15854	T	0.009	0.03359	T	8	0.0024272501	0.00036	T	.	.	.	0.026	0.05648	.	.	0.31501682445	0.31101	0.13884210332941474	0.13807	0.0593196211835	0.06588	0.547487854958	0.45503	T	0.021682	0.16841	T	-0.419934	0.01712	T	-0.351608	0.39020	T	0.0132087441274408	0.00235	T	0.731327	0.34690	T	0.0658717	0.14119	0.09854556	0.23498	0.0658717	0.14118	0.09854556	0.23497	-2.494	0.05740	T	.	.	0.303	0.53237	B	.	.	1.539469	0.19741	14.42	0.92330843716784294	0.21727	0.01553	0.05089	N	ALL	0.093611	0.18938	N	-0.758120964766353	0.14413	0.717779	-0.76649262791605	0.15318	0.8049976	0.999999999999983	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.73	1.0	0.18999	0.097000	0.15007	3.442000	0.38388	0.756000	0.94297	0.001000	0.13787	0.992000	0.31684	0.596000	0.31288	0.5922:0.2011:0.2067:0.0	3.488	0.07189	626	0.65439	.	.	.	.	.	.	Likely benign	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	0.014706	0.010204	0.031065	0.009375	0.000000	0.000000	0.000000	0.016667	0.02632	764.33	38	chr5	139389807	.	A	G	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=697;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.32;SOR=1.068	GT:AD:DP:GQ:PL	0/1:25,28:53:99:778,0,667	18	0	1	0
chr5	140557250	140557250	G	A	exonic	SRA1	.	nonsynonymous SNV	SRA1:NM_001253764:exon1:c.C203T:p.T68M	.	435	1083	3	1	0	5	0.00230309	.	.	.	709663	SRA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0092	0.00838658	0.0027	0.0309	0.0017	0	0	4.653e-05	0.0034	0.0001	0.0025744	398	154602	rs34009206	0.0009	0.0009	0.0010	0.0008	0.0299	0.0008	0.0008	0.0284	0.0277	0.0299	0.0019	0	0	0	0.0017	1.889e-05	0.0022	5.798e-05	0.0087	0.0087	0.0091	0.0083	0.0302	0.0083	0.0082	0.0288	0.0283	0.0302	0	0.0033	0	0	0	0.0136	2.94e-05	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1316.33	94	chr5	140557250	.	G	A	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=1262;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.16;SOR=0.75	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1330,0,1439	18	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K,PCDHA9:NM_031857:exon1:c.G118A:p.E40K	.	442	1033	39	8	0	55	0.0259312	.	.	.	3206704	PCDHA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	4116.41	162	chr5	140848613	.	G	A	4116.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.12;DP=2163;ExcessHet=0.0101;FS=19.807;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.58;MQRankSum=-6.383;QD=12.18;ReadPosRankSum=1.31;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,44:153:99:0|1:140848597_C_G:1519,0,4444:140848597	16	1	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N,PCDHA9:NM_031857:exon1:c.C128A:p.T43N	.	443	1034	37	8	0	53	0.0249882	.	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, 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	0.005076	0.000000	0.005510	0.000000	0.000000	0.000000	0.012346	0.007576	0.1053	3598.41	162	chr5	140848623	.	C	A	3598.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.37;DP=2156;ExcessHet=0.0101;FS=13.882;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.55;MQRankSum=-7.135;QD=10.94;ReadPosRankSum=-0.588;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,36:147:99:0|1:140848597_C_G:1178,0,4492:140848597	16	1	2	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	0/1:140,36:204:99:217,0,3460	6	0	6	7
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	0/1:130,54:184:99:.:.:950,0,2999:.	1	0	18	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:165,93:258:99:526,0,3033	8	0	11	0
chr5	141431463	141431463	C	T	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C704T:p.A235V,PCDHGA12:NM_032094:exon1:c.C704T:p.A235V	.	395	1093	30	4	0	38	0.0170863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0022	0.00399361	0.0051	0.0003	0.0026	0	0.0014	0.0036	0.0033	0.0198	0.0044372	686	154602	rs139195027	0.0036	0.0036	0.0030	0.0042	0.0200	0.0035	0.0035	0.0192	0.0189	0.0005	0.0018	0.0042	2.519e-05	0.0024	0.0054	0.0026	0.0039	0.0200	0.0027	0.0027	0.0024	0.0029	0.0205	0.0024	0.0024	0.0172	0.0160	0.0005	0	0.0033	0.0046	0.0004	0.0015	0.0034	0.0028	0.0047	0.0205	0.283	0.15354	T	0.178	0.29639	T	0.022	0.20242	B	0.01	0.16862	B	.	.	.	.	0.583734	0.31078	N	-0.31	0.03598	N	4.02	0.03178	T	-0.57	0.17210	N	0.042	0.01999	-0.9074	0.47168	T	0.004	0.01295	T	9	0.0067094862	0.00152	T	.	.	.	0.014	0.01968	.	.	0.220303561663	0.21668	0.12593832730350227	0.12519	.	.	.	.	.	0.003892	0.03302	T	-0.723327	0.00026	T	-0.796191	0.02000	T	0.00219904459130167	0.00023	T	0.815218	0.46991	T	0.03382852	0.03680	0.07829049	0.17522	0.03382852	0.03680	0.07829049	0.17522	-4.955	0.36425	T	.	.	0.086	0.10931	B	.;.	.;.	-1.299337	0.00439	0.009	0.94628708314761545	0.25214	0.02661	0.07276	N	AEFDGBHIJ	0.100983	0.20292	N	-1.54332638067758	0.01574	0.06876488	-1.58798993625364	0.01728	0.07858321	0.99999999807393	0.74766	0.580535	0.33130	0	0.296712	0.05252	1	0.576033	0.28219	0	0.372554	0.06265	0	.	.	4.7	-5.55	0.02336	-3.012000	0.00711	.	.	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.839000	0.39591	0.09:0.5164:0.0:0.3936	9.928	0.40672	818	0.41518	.;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.000000	0.000000	0.000000	0.017241	0.015244	0.011364	0.02632	3133.33	37	chr5	141431463	.	C	T	3133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.791;SOR=0.692	GT:AD:DP:GQ:PL	0/1:107,113:220:99:3147,0,2787	18	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,21:90:99:0|1:146286009_G_C:166,0,1157:146286009	10	0	7	2
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.07895	3840.79	101	chr5	151507207	.	G	C	3840.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.408;DP=1568;ExcessHet=0.3672;FS=0.446;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.67;SOR=0.639	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1194,0,1079	16	0	3	0
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	0/1:0,219:465:99:.:.:20004,10195,9588:.	5	7	6	1
chr5	179345261	179345261	A	0	exonic	ADAMTS2	.	.	.	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	52	1338	108	2	22	134	0.0401722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	140.54	17	chr5	179345261	.	A	*	140.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=399;ExcessHet=0.3672;FS=2.644;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.452;SOR=0.648	GT:AD:DP:GQ:PL	0/1:24,3:27:54:54,0,958	17	0	2	0
chr5	179853392	179853392	G	A	exonic	MRNIP	.	stopgain	MRNIP:NM_001017987:exon2:c.C112T:p.Q38X,MRNIP:NM_016175:exon2:c.C112T:p.Q38X	.	437	1067	16	2	0	20	0.00928505	.	.	.	2825632	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0034	0.00339457	0.0026	0.0057	0.0020	0.0002	0.0003	0.0033	0.0022	0.0003	0.0027167	420	154602	rs112867427	0.0030	0.0030	0.0030	0.0030	0.0106	0.0029	0.0029	0.0085	0.0077	0.0055	0.0027	0.0048	0.0002	0.0005	0.0106	0.0032	0.0033	0.0006	0.0040	0.0040	0.0038	0.0042	0.0058	0.0037	0.0036	0.0050	0.0048	0.0056	0	0.0058	0.0052	0	0.0008	0.0136	0.0033	0.0090	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000015	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.206	0.23758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190297	0.72990	D	0.503462	0.94693	D	0.0714765072717897	0.08856	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant;.	.;.;.;.;High;.	10.086868	0.99559	45	0.99787027092574287	0.87308	0.81009	0.40506	D	AEFDBCI	0.699072	0.65654	D	0.982233530796849	0.95172	13.374	0.798350469101079	0.89677	10.07522	0.999999999946364	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	4.194000	0.58190	10.653000	0.83529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	13.980	0.63815	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.013595	0.040404	0.017663	0.002924	0.050000	0.008621	0.006098	0.000000	0.05263	2299.83	39	chr5	179853392	.	G	A	2299.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.523;DP=839;ExcessHet=0.119;FS=0.557;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.657;SOR=0.756	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1201,0,1094	17	0	2	0
chr5	180603329	180603329	G	A	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_182925:exon30:c.C3955T:p.R1319W	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	3432363	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0165931583608	7.7e-05	0.000399361	4.322e-05	0.0002	0	0.0002	0	0	0	6.292e-05	4.53e-05	7	154602	rs142322370	3.147e-05	3.147e-05	1.634e-05	4.676e-05	0.0007	2.413e-05	2.158e-05	0.0002	0.0001	8.961e-05	4.475e-05	0	0.0001	3.748e-05	0.0007	7.195e-06	4.969e-05	0.0002	5.908e-05	5.905e-05	5.139e-05	6.711e-05	0.0002	3.075e-05	2.208e-05	4.726e-05	3.045e-05	0.0001	0	6.532e-05	0	0	0	0	2.941e-05	0	0.0002	0.198	0.20532	T	0.114	0.36765	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-1.08	0.77078	T	-1.39	0.34397	N	0.153	0.15749	-0.9499	0.40989	T	0.182	0.52904	T	9	0.025912106	0.00771	T	0.016593	0.37919	T	0.170	0.43303	.	.	0.128874641272	0.12493	0.1881727580680153	0.18735	0.118307522952	0.13319	0.313060700893	0.12369	T	0.173942	0.52300	T	-0.34721	0.04905	T	-0.41651	0.31477	T	0.108441144227982	0.13261	T	0.712529	0.32403	T	0.03485692	0.03992	0.033183623	0.02172	0.03485692	0.03991	0.033183623	0.02171	-5.589	0.42692	T	.	.	0.081	0.08176	B	.	.	2.018575	0.25648	16.84	0.96991380720579401	0.31904	0.17363	0.19804	N	AEFBI	0.199307	0.32611	N	-0.963051228148588	0.09402	0.444803	-0.896719353637844	0.12171	0.6245372	0.0159519831745548	0.12775	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.62	1.15	0.19876	0.283000	0.18605	0.706000	0.20886	-0.251000	0.07141	0.374000	0.25957	0.000000	0.08366	0.410000	0.27006	0.3163:0.2097:0.2614:0.2125	0.179	0.00113	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	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	912.33	33	chr5	180603329	.	G	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=714;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.978;SOR=0.751	GT:AD:DP:GQ:PL	0/1:35,38:73:99:926,0,832	18	0	1	0
chr6	3264301	3264301	C	A	exonic	PSMG4	.	nonsynonymous SNV	PSMG4:NM_001128592:exon3:c.C343A:p.P115T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00369330037734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.366	0.16668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.52	0.16187	N	0.093	0.07262	-0.9716	0.36862	T	0.015	0.06138	T	8	0.06832984	0.09648	T	0.003693	0.08527	T	0.006	0.00375	0.205	0.12076	0.0138822411134	0.00435	0.05270914393658736	0.05212	.	.	0.212534114718	0.00923	T	.	.	.	-0.269474	0.11815	T	-0.624857	0.10808	T	0.0653288102644422	0.07980	T	0.457954	0.13172	T	.	.	.	.	.	.	.	.	-3.544	0.17053	T	.	.	0.062	0.01233	B	.	.	0.221842	0.06040	2.483	0.97373523471276302	0.33637	0.07670	0.13675	N	AEFDBCI	0.032906	0.03805	N	-1.09154541638437	0.06798	0.3139755	-1.1444254604309	0.06869	0.3321004	0.9999414903029	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.61	-0.258	0.12334	-0.753000	0.04897	-1.831000	0.04647	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5349:0.0:0.4651	6.322	0.20431	873	0.30802	.	.	.	.	.	.	Likely benign	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	1251.33	111	chr6	3264301	.	C	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.325;DP=1763;ExcessHet=0;FS=8.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.304;SOR=0.587	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1265,0,1268	18	0	1	0
chr6	16327633	16327633	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.677_678insGCAGCAGCA:p.Q225_H226insQQQ,ATXN1:NM_000332:exon8:c.677_678insGCAGCAGCA:p.Q225_H226insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0006	0.0015	0	0.0014	0.0019	0.0035	0.0081	0.0016365	253	154602	rs769091061	0.0057	0.0057	0.0054	0.0060	0.0142	0.0056	0.0055	0.0135	0.0133	0.0017	0.0032	0.0079	0.0013	0.0070	0.0024	0.0052	0.0061	0.0142	0.0061	0.0063	0.0061	0.0061	0.0138	0.0058	0.0056	0.0110	0.0100	0.0026	0	0.0049	0.0112	0.0013	0.0048	0	0.0083	0.0060	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13389.7	35	chr6	16327633	.	G	GTGCTGCTGC	13389.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=1723;ExcessHet=0.0038;FS=0;InbreedingCoeff=0.5476;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.61;ReadPosRankSum=0.385;SOR=0.682	GT:AD:DP:GQ:PL	0/1:0,22:45:99:1851,843,824	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:37,22:69:99:271,0,568	7	0	12	0
chr6	26374361	26374361	-	GCCTGATGCTCT	exonic	BTN3A2	.	stopgain	BTN3A2:NM_001197246:exon7:c.999_1000insGCCTGATGCTCT:p.S333delinsSAX,BTN3A2:NM_001197248:exon7:c.930_931insGCCTGATGCTCT:p.S310delinsSAX,BTN3A2:NM_001197249:exon8:c.873_874insGCCTGATGCTCT:p.S291delinsSAX,BTN3A2:NM_001197247:exon9:c.999_1000insGCCTGATGCTCT:p.S333delinsSAX,BTN3A2:NM_007047:exon9:c.999_1000insGCCTGATGCTCT:p.S333delinsSAX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	354.29	38	chr6	26374361	.	A	AGCCTGATGCTCT	354.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.975;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.634;SOR=0.593	GT:AD:DP:GQ:PL	0/1:17,10:27:99:368,0,685	18	0	1	0
chr6	27452919	27452919	T	C	exonic	ZNF184	.	nonsynonymous SNV	ZNF184:NM_001318891:exon6:c.A640G:p.N214D,ZNF184:NM_001318892:exon6:c.A640G:p.N214D,ZNF184:NM_001318893:exon6:c.A412G:p.N138D,ZNF184:NM_001347832:exon6:c.A412G:p.N138D,ZNF184:NM_007149:exon6:c.A640G:p.N214D	.	397	1116	8	1	0	10	0.0044603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00415090661886	0.0023	0.000998403	0.0027	0.0004	0.0026	0.0001	0.0003	0.0040	0.0033	0.0008	0.0024579	380	154602	rs45553937	0.0026	0.0026	0.0026	0.0025	0.0064	0.0025	0.0025	0.0048	0.0042	0.0003	0.0025	0.0392	0.0001	0.0003	0.0064	0.0020	0.0044	0.0008	0.0024	0.0024	0.0024	0.0025	0.0031	0.0022	0.0022	0.0024	0.0022	0.0003	0	0.0031	0.0369	0.0002	0.0005	0.0204	0.0023	0.0028	0.0012	0.688	0.04328	T	0.955	0.02582	T	0.017	0.17573	B	0.028	0.21332	B	0.975102	0.08132	N	0.986436	0.999998	0.08975	N	1.545	0.39105	L	5.45	0.00969	T	-0.64	0.18670	N	0.044	0.01740	-0.9946	0.31405	T	0.001	0.00287	T	10	0.002562642	0.00039	T	0.004151	0.09963	T	0.012	0.01476	.	.	0.325263233342	0.32141	0.03270394840070504	0.03218	0.515687455272	0.49472	0.2948589921	0.09637	T	0.007646	0.07043	T	-0.726694	0.00025	T	-0.820925	0.01434	T	0.000551955132253572	0.00005	T	0.0148485	0.00082	T	0.04755835	0.08147	0.04479653	0.05882	0.04755835	0.08147	0.04479653	0.05882	-2.922	0.09365	T	.	.	0.073	0.04847	B	.;.	.;.	1.200642	0.15930	12.20	0.83786305542268558	0.14919	0.00056	0.00418	N	AEFBHCI	0.049896	0.08668	N	-1.00314883878431	0.08538	0.4007048	-1.01047641955182	0.09554	0.4760061	0.081731218793686	0.15882	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.85	0.172	0.14317	0.099000	0.15047	1.588000	0.27514	0.519000	0.23678	0.000000	0.06391	0.131000	0.23000	0.979000	0.57723	0.0:0.3309:0.2033:0.4658	5.220	0.14685	568	0.70638	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.010101	0.002717	0.005848	0.000000	0.025862	0.003049	0.000000	0.02632	2113.33	33	chr6	27452919	.	T	C	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.06;DP=797;ExcessHet=0;FS=5.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.168;SOR=0.392	GT:AD:DP:GQ:PL	0/1:61,83:144:99:2127,0,1442	18	0	1	0
chr6	28529593	28529593	C	T	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.C230T:p.A77V,GPX5:NM_003996:exon2:c.C230T:p.A77V	.	437	1053	31	1	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0034201727032	0.0014	0.00159744	0.0028	0	0.0015	0.0003	0	0.0025	0.0067	0.0090	0.0023932	370	154602	rs145161873	0.0018	0.0018	0.0014	0.0021	0.0113	0.0017	0.0017	0.0091	0.0086	9.019e-05	0.0013	0.0291	0.0002	0	0.0113	0.0006	0.0038	0.0093	0.0013	0.0013	0.0013	0.0013	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0009	0.0254	0	0	0.0136	0.0006	0.0014	0.0089	0.653	0.19293	T	0.57	0.39190	T	0.068	0.23728	B	0.007	0.12992	B	0.841296	0.07001	N	1.076350	1	0.08975	N	-0.69	0.01958	N	3.12	0.08106	T	0.39	0.22508	N	0.146	0.25499	-0.9785	0.35345	T	0.004	0.01400	T	10	0.0074159503	0.00169	T	0.00342	0.07694	T	0.104	0.29647	.	.	0.197625483188	0.19356	0.1980378864844265	0.19720	0.14692160482	0.16579	0.291478693485	0.09137	T	0.027063	0.19900	T	-0.685696	0.00044	T	-0.750198	0.03478	T	0.025681993804498	0.01363	T	.	.	.	0.123513326	0.29001	0.1075086	0.25882	0.123513326	0.29001	0.1075086	0.25881	-3.861	0.35814	T	.	.	0.109	0.20702	B	.;.	.;.	1.372705	0.17831	13.39	0.95041436406744417	0.26048	0.01455	0.04870	N	AEFBI	0.035921	0.04701	N	-0.934270913760009	0.10048	0.4783497	-0.976882144630471	0.10305	0.5181954	0.304501700985108	0.19223	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	-0.199	0.12571	-0.098000	0.10993	-0.926000	0.06901	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1861:0.3887:0.0:0.4252	3.265	0.06457	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009825	0.005051	0.009511	0.010638	0.050000	0.000000	0.009146	0.019231	0.05263	1295.83	33	chr6	28529593	.	C	T	1295.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.09;DP=740;ExcessHet=0.119;FS=3.681;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.357;SOR=1.089	GT:AD:DP:GQ:PL	0/1:33,25:58:99:687,0,769	17	0	2	0
chr6	29355414	29355414	C	T	exonic	OR5V1	.	nonsynonymous SNV	OR5V1:NM_030876:exon2:c.G782A:p.R261Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00558273691578	.	.	1.65e-05	0	0	0.0001	0	0	0	6.062e-05	1.29e-05	2	154602	rs772202001	6.157e-06	6.156e-06	5.446e-06	6.876e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	3.827e-05	0	0	0	5.396e-06	0	2.319e-05	6.577e-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	0.502	0.07695	T	0.105	0.38016	T	1.0	0.90584	D	0.969	0.72001	D	0.137514	0.18410	N	0.279943	1	0.08975	N	1.05	0.26816	L	1.21	0.37230	T	-2.37	0.52289	N	0.049	0.02088	-1.0713	0.09129	T	0.072	0.29323	T	10	0.2838565	0.45966	T	0.005583	0.14409	T	0.138	0.37187	0.574	0.69826	0.516938183928	0.51336	0.1654394655208138	0.16463	0.432008363034	0.43385	0.185063585639	0.00150	T	0.008998	0.08221	T	-0.217008	0.18403	T	-0.549494	0.17374	T	0.473208728383573	0.31649	T	.	.	.	0.043326966	0.06732	0.059810635	0.11287	0.043326966	0.06731	0.059810635	0.11286	-5.854	0.45042	T	.	.	0.131	0.28203	B	.;.;.	.;.;.	1.885698	0.23953	16.21	0.99534486592940119	0.70087	0.02549	0.07075	N	AEFBI	0.040429	0.06011	N	-0.196531345521509	0.33277	1.886193	-0.35636442881357	0.26312	1.452575	3.25288379356585E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	2.73	0.31266	-2.646000	0.00933	.	.	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.7573:0.0:0.2427	9.584	0.38666	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2291.33	35	chr6	29355414	.	C	T	2291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=804;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.316;SOR=0.707	GT:AD:DP:GQ:PL	0/1:53,84:137:99:2305,0,1256	18	0	1	0
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V,HLA-A:NM_002116:exon4:c.C806T:p.A269V	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062092	0.075758	0.065217	0.069149	0.050000	0.034483	0.048780	0.079545	0.05263	3200.83	158	chr6	29944308	.	C	T	3200.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.015;DP=2647;ExcessHet=0.119;FS=14.028;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=43.49;MQRankSum=0.273;QD=11.72;ReadPosRankSum=0.34;SOR=0.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,47:138:99:0|1:29944308_C_T:1656,0,3501:29944308	17	0	2	0
chr6	30987052	30987052	C	A	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C877A:p.P293T,MUC21:NM_001322371:exon3:c.C877A:p.P293T,MUC21:NM_001322370:exon4:c.C877A:p.P293T	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00491405621475	.	.	0.0030	0.0097	0.0025	0.0007	0.0005	0.0033	0.0014	0.0009	0.0197095	513	26028	rs9262333	0.0006	0.0025	0.0006	0.0006	0.0014	0.0006	0.0006	0.0011	0.0009	0.0014	0.0011	0.0019	0.0011	0.0004	0.0006	0.0006	0.0007	0.0001	0.0048	0.0085	0.0050	0.0047	0.0075	0.0045	0.0043	0.0060	0.0055	0.0061	0	0.0075	0.0099	0.0046	0.0052	0	0.0035	0.0062	0.0047	0.863	0.02652	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	6.51	0.00528	T	0.42	0.03352	N	0.008	0.00068	-1.0691	0.09612	T	0.000	0.00039	T	8	0.003581524	0.00065	T	0.004914	0.12349	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.03263129242287663	0.03211	0.153254762081	0.17296	0.211890041828	0.00894	T	0.002179	0.01585	T	-0.711449	0.00031	T	-0.746044	0.03643	T	0.000365717999646855	0.00003	T	0.280872	0.04893	T	0.022923421	0.00991	0.03580562	0.02901	0.022923421	0.00991	0.03580562	0.02901	1.075	0.00123	T	.	.	0.060	0.00919	B	.	.	-2.087649	0.00083	0.001	0.066936977320077765	0.00028	0.00371	0.01888	N	AEFBI	0.015981	0.00332	N	-2.42029338985397	0.00024	0.001052021	-2.39213403991063	0.00041	0.001799791	0.520288568185509	0.21091	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.87	-4.22	0.03541	-1.826000	0.01799	.	.	-4.446000	0.00029	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2311:0.3906:0.2508:0.1275	2.147	0.03558	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	rs142976588	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.067538	0.085859	0.051630	0.042553	0.050000	0.060345	0.082317	0.053030	0.02632	113.33	34	chr6	30987052	.	C	A	113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=6115;ExcessHet=0;FS=6.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=-14.65;QD=0.19;ReadPosRankSum=-3.97;SOR=1.522	GT:AD:DP:GQ:PL	0/1:530,57:587:99:127,0,20133	18	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	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|1:143,32:175:99:0|1:31355338_T_C:908,0,5885:31355338	12	0	6	1
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|1:0,81:81:99:1|1:31356417_G_A:3645,244,0:31356417	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|1:0,57:57:99:1|1:31356711_C_CGGAG:2565,172,0:31356711	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|1:0,57:57:99:1|1:31356711_C_CGGAG:2565,172,0:31356711	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|1:0,57:57:99:1|1:31356711_C_CGGAG:2565,172,0:31356711	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	1|1:0,91:91:99:1|1:31356711_C_CGGAG:4095,274,0:31356711	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|1:0,158:158:99:1|1:31356809_C_T:7100,476,0:31356809	3	7	9	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,33:56:99:1|0:31412383_TG_T:2190,969,855:31412383	7	1	11	0
chr6	31589884	31589884	G	A	exonic	NCR3	.	nonsynonymous SNV	NCR3:NM_001145466:exon2:c.C286T:p.R96W,NCR3:NM_001145467:exon2:c.C286T:p.R96W,NCR3:NM_147130:exon2:c.C286T:p.R96W	.	408	1110	4	0	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0001	0.00738818	0.0030	0.0002	0.0003	0.0002	0	0.0001	0.0103	0.0199	0.0025744	398	154602	rs201297742	0.0013	0.0013	0.0007	0.0018	0.0189	0.0012	0.0012	0.0181	0.0178	0	2.236e-05	0	0.0002	0	0.0005	0.0001	0.0018	0.0189	0.0007	0.0007	0.0003	0.0011	0.0193	0.0006	0.0005	0.0161	0.0149	9.622e-05	0	6.533e-05	0	0	0	0	8.82e-05	0	0.0193	0.158	0.23905	T	1.0	0.09655	T	0.003	0.11197	B	0.001	0.04355	B	0.038965	0.01856	N	2.161120	1	0.08975	N	0.39	0.12200	N	-0.24	0.66834	T	-1.3	0.36385	N	0.259	0.30574	-1.0551	0.13013	T	0.052	0.22114	T	10	0.0048856735	0.00104	T	.	.	.	0.008	0.00669	.	.	0.494433119893	0.49078	0.5083620337757756	0.50758	0.274510111426	0.29939	0.295474261045	0.09728	T	0.010313	0.09328	T	-0.547367	0.00303	T	-0.542775	0.18025	T	0.00649453136318152	0.00072	T	.	.	.	0.3711327	0.58669	0.08568204	0.19800	0.3711327	0.58669	0.08568204	0.19799	-3.452	0.41063	T	.	.	0.050	0.00436	B	.;.;.;.	.;.;.;.	-0.043121	0.03995	0.907	0.87870230794596893	0.17543	0.00391	0.01965	N	AEFBI	0.090432	0.18324	N	-1.45329928097686	0.02190	0.09646564	-1.50889304794984	0.02275	0.1043898	0.999967765676398	0.48965	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.01	-4.3	0.03454	-1.200000	0.03138	.	.	-0.726000	0.03757	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2889:0.0:0.5464:0.1646	6.391	0.20792	878	0.29785	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|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	0.002179	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1693.33	37	chr6	31589884	.	G	A	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=861;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.668;SOR=0.491	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1707,0,1769	18	0	1	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|1:95,23:118:99:0|1:31625601_T_C:381,0,3253:31625601	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|1:95,23:118:99:0|1:31625601_T_C:381,0,3253:31625601	1	0	16	2
chr6	31765766	31765766	C	T	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.G2504A:p.R835Q	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00746464370839	0.0001	0.000399361	0.0004	0	0	0	0	0.0002	0.0049	0.0019	0.0003169	49	154602	rs375942272	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	6.084e-05	0	0	0	0	0.0007	9.21e-05	0.0003	0.0016	4.598e-05	4.595e-05	3.857e-05	5.373e-05	0.0008	2.109e-05	1.527e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.626	0.05214	T	0.559	0.09144	T	0.0	0.02946	B	0.0	0.01387	B	0.372373	0.04370	N	1.482110	1	0.81001	D	-1.795	0.00292	N	2.9	0.10101	T	0.99	0.01428	N	0.081	0.05670	-0.9436	0.42041	T	0.003	0.01026	T	10	0.004405588	0.00090	T	0.007465	0.19792	T	0.086	0.25016	.	.	0.0297737177859	0.01360	0.1690796181446379	0.16827	0.332585113786	0.35307	0.345605969429	0.17273	T	1.3E-4	0.00017	T	-0.672268	0.00053	T	-0.757457	0.03204	T	0.0151267207694435	0.00329	T	.	.	.	0.022651521	0.00943	0.038248375	0.03653	0.022651521	0.00943	0.038248375	0.03653	-3.306	0.13815	T	.	.	0.059	0.00793	B	.	.	1.356194	0.17643	13.29	0.41320187481001974	0.02973	0.01182	0.04236	N	AEFDBCI	0.025753	0.01818	N	-1.17849132770347	0.05326	0.2425176	-1.06338141701958	0.08430	0.414475	0.999999050489796	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	2.42	0.28720	0.307000	0.19048	.	.	-0.111000	0.15049	0.981000	0.35396	0.000000	0.08366	0.018000	0.11154	0.0:0.1831:0.1732:0.6438	4.228	0.10042	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1506.33	33	chr6	31765766	.	C	T	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=734;ExcessHet=0;FS=3.568;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.818;SOR=0.618	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1520,0,1188	18	0	1	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|1:96,8:104:10:0|1:32149327_G_C:10,0,3907:32149327	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|1:96,8:104:10:0|1:32149327_G_C:10,0,3933:32149327	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|1:97,8:105:7:0|1:32149327_G_C:7,0,3972:32149327	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|1:94,8:102:16:0|1:32149327_G_C:16,0,3846:32149327	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|1:94,8:102:16:0|1:32149327_G_C:16,0,3836:32149327	12	0	2	5
chr6	32521948	32521949	TC	-	exonic	HLA-DRB5	.	frameshift deletion	HLA-DRB5:NM_002125:exon2:c.326_327del:p.R109Tfs*7	.	33	1453	33	0	3	36	0.0112283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0	0	0	0	0.0004	0.0123	0.0051	0.0004334	67	154602	rs781723874	0.0003	0.0003	0.0001	0.0004	0.0029	0.0003	0.0002	0.0026	0.0024	0	0	0	0	2.09e-05	0.0006	0.0001	0.0004	0.0029	7.185e-05	8.733e-05	3.518e-05	0.0001	0.0020	3.484e-05	2.527e-05	0.0009	0.0007	0	0	0	0	0	0	0	2.033e-05	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001115	0.000000	0.000000	0.000000	0.000000	0.000000	0.006369	0.000000	0.02632	6716.5	8	chr6	32521947	.	GTC	G	6716.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.608;DP=4189;ExcessHet=0.3672;FS=0.544;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=53.93;MQRankSum=-0.319;QD=12.87;ReadPosRankSum=-1.92;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,130:320:99:.:.:4841,0,7530:.	18	0	1	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2816.55	208	chr6	32976813	.	G	C	2816.55	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.205;DP=2575;ExcessHet=11.1788;FS=157.461;InbreedingCoeff=-0.4982;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.4;SOR=11.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,18:108:99:.:.:157,0,2983:.	12	0	6	1
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	0/1:46,18:65:19:.:.:19,0,799:.	3	0	11	5
chr6	37450255	37450255	G	A	exonic	CMTR1	.	nonsynonymous SNV	CMTR1:NM_015050:exon5:c.G449A:p.S150N	.	432	1089	1	0	0	1	0.000458926	.	.	.	2471561	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00446622094609	.	.	9.899e-05	0	0	0	0	3e-05	0	0.0006	7.76e-05	12	154602	rs778269576	5.063e-05	5.062e-05	2.587e-05	7.564e-05	0.0007	4.126e-05	3.778e-05	0.0005	0.0005	0	0	0	0	0	0.0002	9.893e-06	6.624e-05	0.0007	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	0.263	0.16412	T	0.313	0.19539	T	0.002	0.09854	B	0.004	0.10090	B	0.000000	0.84330	N	0.115136	0.994352	0.42251	D	1.375	0.34280	L	.	.	.	-0.46	0.20145	N	0.19	0.20793	-1.0426	0.16532	T	0.073	0.29643	T	9	0.042013496	0.02910	T	0.004466	0.10937	T	0.116	0.32463	0.339	0.32979	0.179529687257	0.17594	0.6047087215514183	0.60401	0.750607852197	0.63758	0.506027936935	0.39668	T	0.028418	0.20589	T	-0.509231	0.00507	T	-0.589757	0.13687	T	0.0577353090047836	0.06807	T	0.794521	0.43681	T	0.17480616	0.38305	0.09381339	0.22177	0.17480616	0.38304	0.09381339	0.22176	-4.437	0.30055	T	.	.	0.103	0.18456	B	.;.	.;.	3.112753	0.41995	21.5	0.9533883718051005	0.26708	0.93140	0.57430	D	AEFDBHCI	0.371754	0.45765	N	-0.14173690316745	0.35588	2.046	0.0274599813107654	0.40995	2.455551	0.967790238887624	0.29003	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	3.393000	0.52286	10.002000	0.83047	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0815:0.1533:0.7652:0.0	8.588	0.32832	528	0.73785	RrmJ-type ribose 2-O-methyltransferase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1137.33	33	chr6	37450255	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.259;DP=719;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.839;SOR=0.829	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1151,0,954	18	0	1	0
chr6	38597958	38597958	C	T	exonic	BTBD9	.	nonsynonymous SNV	BTBD9:NM_001099272:exon2:c.G137A:p.R46H,BTBD9:NM_052893:exon3:c.G137A:p.R46H	.	.	.	.	.	.	.	.	.	.	.	4097943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0212797412192	.	.	8.287e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs760705861	5.473e-06	5.472e-06	4.084e-06	6.877e-06	5.396e-06	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	3.826e-05	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.111	0.37173	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	1	0.81001	D	1.96	0.53105	M	-0.36	0.68754	T	-2.92	0.68056	D	0.458	0.49511	-0.2608	0.76066	T	0.374	0.73250	T	9	0.5093548	0.62006	D	0.02128	0.44024	T	0.340	0.66202	0.509	0.60540	0.812243866623	0.81048	0.5591713946529773	0.55844	0.412650264091	0.42000	0.736166119576	0.72408	T	0.569315	0.85713	D	-0.0105432	0.50191	T	-0.252921	0.49529	T	0.95407772064209	0.64177	D	0.923208	0.76563	D	0.12262524	0.28811	0.16487984	0.38171	0.12262524	0.28810	0.16487984	0.38171	-8.435	0.63997	D	.	.	0.135	0.29450	B	.;.;.;.	.;.;.;.	3.981322	0.58534	24.0	0.99954542050378248	0.99969	0.96865	0.71360	D	AEFI	0.620998	0.60585	D	0.614514934044772	0.74091	6.074306	0.571614946991239	0.72914	5.885409	0.998589625138274	0.37247	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.36	4.48	0.53973	4.445000	0.59749	5.936000	0.51400	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.929:0.0:0.071	14.786	0.69430	711	0.56613	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	33	chr6	38597958	.	C	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.122;SOR=0.735	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1344,0,973	18	0	1	0
chr6	41684900	41684900	G	A	exonic	TFEB	.	nonsynonymous SNV	TFEB:NM_001271943:exon8:c.C875T:p.P292L,TFEB:NM_001167827:exon9:c.C1172T:p.P391L,TFEB:NM_001271944:exon9:c.C1130T:p.P377L,TFEB:NM_001271945:exon9:c.C1130T:p.P377L,TFEB:NM_007162:exon10:c.C1130T:p.P377L	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0793115396131	.	0.000199681	5.763e-05	0.0002	0	0	0	7.376e-05	0	0	3.88e-05	6	154602	rs371923346	5.996e-05	7.115e-05	6.695e-05	5.28e-05	0.0002	4.959e-05	4.569e-05	5.919e-05	5.478e-05	6.161e-05	0	0	0	0	0.0002	7.254e-05	5.139e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.193	0.37966	T	0.069	0.61642	T	0.679	0.44809	P	0.2	0.36839	B	0.000057	0.53742	D	0.128676	1	0.81001	D	1.83	0.48079	L	-0.08	0.63911	T	-1.67	0.41239	N	0.207	0.22998	-0.8175	0.54090	T	0.114	0.40672	T	10	0.123684466	0.23482	T	0.079312	0.73205	D	0.127	0.34888	0.375	0.38830	0.179529687257	0.17594	0.49024928133790996	0.48944	0.4724646507	0.46487	0.509842455387	0.40201	T	0.479008	0.87557	T	-0.0329543	0.46987	T	-0.285113	0.46279	T	0.079228431822615	0.09888	T	0.869413	0.57379	D	0.08792683	0.20493	0.0942844	0.22311	0.08792683	0.20492	0.0942844	0.22311	-4.909	0.35836	T	.	.	0.081	0.08320	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.056251	0.60165	24.2	0.98931035480202534	0.48750	0.84564	0.43647	D	AEFDBCI	0.382533	0.46438	N	0.051568388153863	0.44213	2.699624	0.0773337441939429	0.43410	2.643401	0.999985296518662	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.95	4.02	0.45968	1.073000	0.30302	7.507000	0.59567	0.676000	0.76740	0.883000	0.31049	1.000000	0.68203	0.424000	0.27317	0.0:0.1485:0.8515:0.0	14.419	0.66745	864	0.32732	MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;.;MiT/TFE transcription factors, 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	.	.	.	.	.	.	.	.	0.02632	677.33	46	chr6	41684900	.	G	A	677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=753;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.031;SOR=0.779	GT:AD:DP:GQ:PL	0/1:23,25:48:99:691,0,590	18	0	1	0
chr6	43447301	43447301	G	C	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon15:c.G3514C:p.G1172R,ABCC10:NM_001198934:exon17:c.G3598C:p.G1200R,ABCC10:NM_001350518:exon17:c.G2266C:p.G756R	.	415	1104	3	0	0	3	0.00135685	.	.	.	2445428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.752	0.205079403119	.	.	2.474e-05	0	0	0	0	3.002e-05	0.0011	0	1.94e-05	3	154602	rs779288383	1.163e-05	1.163e-05	1.362e-05	9.628e-06	0.0002	7.09e-06	5.79e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0001	0	5.259e-05	5.253e-05	3.855e-05	6.729e-05	0.0004	2.558e-05	1.831e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.013	0.63109	D	0.779	0.46518	P	0.216	0.51231	B	0.001167	0.39978	N	0.216900	1	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-5.94	0.90140	D	0.872	0.86941	0.415	0.89327	D	0.698	0.89610	D	10	0.8394195	0.83096	D	0.205079	0.86966	D	0.752	0.91498	.	.	0.960080510724	0.95965	0.9122644227004707	0.91200	0.593062829215	0.54674	0.842099189758	0.88415	D	0.531074	0.83774	D	0.366111	0.87711	D	0.395774	0.91972	D	0.761864483356476	0.43958	D	0.969603	0.89491	D	0.646621	0.75184	0.68110645	0.81261	0.646621	0.75185	0.68110645	0.81262	-10.964	0.79460	D	.	.	0.371	0.62386	A	.;.	.;.	4.130018	0.61802	24.4	0.99815182980397144	0.89885	0.99252	0.93473	D	AEFDBI	0.930023	0.91668	D	0.145122745964614	0.48582	3.06865	0.217637712624642	0.50825	3.270666	0.999999652316846	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.34	4.47	0.53770	8.135000	0.89505	8.685000	0.78057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.073:0.0:0.927:0.0	13.963	0.63702	364	0.84707	ABC transporter type 1, transmembrane 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	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	675.33	33	chr6	43447301	.	G	C	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=681;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.97;SOR=0.446	GT:AD:DP:GQ:PL	0/1:26,28:54:99:689,0,656	18	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	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	0/1:60,25:85:66:66,0,1237	8	0	8	3
chr6	44301434	44301434	G	A	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon20:c.C2629T:p.R877W	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	139923	not_provided|Combined_oxidative_phosphorylation_defect_type_8|not_specified|AARS2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013570,MedGen:C4518839,OMIM:614096,Orphanet:319504|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0075	0.00738818	0.0023	0.0247	0.0012	0	0	3.004e-05	0	0.0002	0.0021863	338	154602	rs112247130	0.0007	0.0007	0.0008	0.0006	0.0252	0.0007	0.0007	0.0238	0.0232	0.0252	0.0015	0	0	0	0.0005	1.888e-05	0.0017	0.0002	0.0074	0.0075	0.0075	0.0073	0.0253	0.0071	0.0069	0.0240	0.0235	0.0253	0	0.0037	0	0	0	0	8.821e-05	0.0104	0.0002	0.009	0.57480	D	0.008	0.67890	D	0.991	0.64070	D	0.446	0.45959	B	0.002292	0.36846	N	0.214971	0.864991	0.81001	D	1.5	0.37844	L	-0.11	0.64445	T	-3.75	0.71157	D	0.334	0.37509	-0.8388	0.52726	T	0.129	0.43767	T	10	0.005481392	0.00121	T	.	.	.	0.144	0.38394	.	.	0.795177276677	0.79327	0.3944172722042989	0.39356	0.715118187512	0.61921	0.335545301437	0.15770	T	0.090134	0.38521	T	-0.396031	0.02458	T	-0.323394	0.42200	T	0.030779544288987	0.02111	T	0.879412	0.59551	D	0.27001098	0.50073	0.19079024	0.42502	0.27001098	0.50073	0.19079024	0.42501	-9.28	0.69481	D	0.7022392466798901	0.78137	0.096	0.15251	B	.	.	4.285836	0.65326	24.8	0.99914176305592106	0.98309	0.83641	0.42745	D	AEFDBI	0.541512	0.55763	D	0.209063733750071	0.51637	3.34346	0.193044599731748	0.49464	3.149337	0.0970859806587175	0.16270	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.34	3.4	0.38031	2.067000	0.41087	7.105000	0.57548	0.676000	0.76740	0.073000	0.22155	0.999000	0.35428	0.907000	0.44265	0.0:0.0:0.4598:0.5402	11.902	0.51970	807	0.43470	.	.	.	.	.	.	Likely benign	0	0	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	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	872.33	92	chr6	44301434	.	G	A	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.851;DP=1623;ExcessHet=0;FS=8.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.992;SOR=1.705	GT:AD:DP:GQ:PL	0/1:55,33:88:99:886,0,1483	18	0	1	0
chr6	52424111	52424111	C	A	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon2:c.C229A:p.P77T,EFHC1:NM_001172420:exon3:c.C172A:p.P58T	.	0	1521	1	0	0	1	0.000328623	.	.	.	17106	not_provided|EFHC1-related_disorder|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_specified	MedGen:C3661900|.|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.115	.	0.0082	0.00658946	0.0023	0.0254	0.0016	0	0	2.998e-05	0	0	0.0021733	336	154602	rs149055334	0.0007	0.0007	0.0008	0.0006	0.0243	0.0007	0.0006	0.0229	0.0224	0.0243	0.0019	0	0	0	0.0005	1.888e-05	0.0014	1.159e-05	0.0072	0.0072	0.0075	0.0069	0.0249	0.0068	0.0067	0.0236	0.0231	0.0249	0	0.0033	0	0	0	0	2.941e-05	0.0047	0	0.545	0.06869	T	0.615	0.07999	T	0.0	0.02946	B	0.001	0.04355	B	0.128192	0.18740	N	0.585786	1	0.08975	N	1.005	0.25186	L	-0.05	0.66474	T	0.51	0.03191	N	0.276	0.31253	-0.9978	0.30535	T	0.056	0.23715	T	10	0.00282076	0.00045	T	.	.	.	0.115	0.32236	.	.	0.537262924806	0.53376	0.36393647829424697	0.36307	0.0960049981914	0.10833	0.315855711699	0.12794	T	0.057268	0.30520	T	-0.482075	0.00719	T	-0.445647	0.28179	T	0.00599273627254286	0.00066	T	0.89841	0.64469	D	0.09763606	0.23018	0.0947643	0.22445	0.13126656	0.30603	0.08010018	0.18090	-3.157	0.12988	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.013242	0.13924	10.48	0.65059104143241131	0.07666	0.05724	0.11649	N	ALL	.	.	.	-0.950195021013638	0.09687	0.4596077	-0.846886465808864	0.13362	0.6927766	0.999999999989409	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.654926	0.60358	0	.	.	5.98	3.13	0.35090	0.485000	0.22033	0.133000	0.15072	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.0:0.4179:0.5821:0.0	19.219	0.93776	758	0.50837	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	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	3059.33	39	chr6	52424111	.	C	A	3059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.202;DP=922;ExcessHet=0;FS=1.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.188;SOR=0.611	GT:AD:DP:GQ:PL	0/1:102,120:222:99:3073,0,2704	18	0	1	0
chr6	52452776	52452776	G	A	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.G662A:p.R221H,EFHC1:NM_001172420:exon5:c.G605A:p.R202H	.	0	1521	1	0	0	1	0.000328623	.	.	.	38421	not_specified|not_provided|EFHC1-related_disorder|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1	MedGen:CN169374|MedGen:C3661900|.|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0081	0.00658946	0.0023	0.0252	0.0017	0	0	2.997e-05	0	0	0.0021798	337	154602	rs79761183	0.0007	0.0007	0.0008	0.0007	0.0239	0.0007	0.0007	0.0225	0.0220	0.0239	0.0020	0	2.52e-05	0	0.0007	5.755e-05	0.0014	2.319e-05	0.0071	0.0071	0.0073	0.0069	0.0245	0.0067	0.0066	0.0232	0.0227	0.0245	0	0.0033	0	0	0	0	2.94e-05	0.0047	0.0002	0.036	0.43393	D	0.043	0.49942	D	0.043	0.21573	B	0.033	0.22329	B	0.003577	0.34767	N	0.361283	0.998138	0.22332	N	1.43	0.35840	L	-0.22	0.69657	T	-2.46	0.53736	N	0.222	0.26596	-0.9567	0.39789	T	0.125	0.43049	T	10	0.005691111	0.00126	T	.	.	.	0.087	0.25287	.	.	0.771497139511	0.76940	0.4762191173191057	0.47541	0.109795811323	0.12382	0.256661623716	0.04501	T	0.031626	0.51816	T	-0.440934	0.01277	T	-0.38655	0.34957	T	0.0105838508162557	0.00148	T	0.917708	0.70434	D	0.0588431	0.11889	0.06485459	0.13061	0.05554676	0.10810	0.06076902	0.11626	-5.459	0.42746	T	0.1935168301108141	0.25467	0.076	0.14477	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.098206	0.41745	21.4	0.99317477733671133	0.59241	0.59757	0.31004	D	AEFDBI	0.126190	0.24303	N	-0.237796168079966	0.31593	1.773086	-0.144071103542994	0.33638	1.926223	0.127781907198104	0.17027	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	2.2	0.26966	1.943000	0.39880	5.106000	0.47475	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.936000	0.47498	0.2434:0.1053:0.6513:0.0	7.973	0.29302	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	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2125.33	34	chr6	52452776	.	G	A	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.984;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.331;SOR=0.652	GT:AD:DP:GQ:PL	0/1:79,89:168:99:2139,0,1685	18	0	1	0
chr6	63778108	63778108	T	C	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon40:c.A7796G:p.H2599R,EYS:NM_001292009:exon40:c.A7796G:p.H2599R	Retinitis pigmentosa 25	0	1508	13	1	0	15	0.00494886	.	.	.	438326	not_provided|Retinitis_pigmentosa_25|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	.	.	.	.	.	.	.	.	0.007	.	0.0079	0.00459265	0.0068	0.0018	0.0024	0	0.0037	0.0082	0	0.0082	0.0019857	307	154602	rs74636274	0.0082	0.0079	0.0084	0.0081	0.0095	0.0081	0.0081	0.0093	0.0093	0.0014	0.0038	0.0013	5.597e-05	0.0026	0.0039	0.0095	0.0055	0.0078	0.0058	0.0058	0.0062	0.0053	0.0093	0.0054	0.0053	0.0087	0.0085	0.0015	0	0.0075	0.0009	0	0.0019	0.0034	0.0093	0.0052	0.0060	0.005	0.63226	D	0.037	0.51737	D	0.087	0.24971	B	0.029	0.21540	B	0.072010	0.21436	N	0.285145	0.999343	0.21331	N	0.92	0.23413	L	-1.52	0.81478	D	-2.26	0.50502	N	0.153	0.15749	-1.0855	0.06316	T	0.036	0.15465	T	10	0.0058834553	0.00132	T	.	.	.	0.119	0.33137	.	.	0.345405024496	0.34151	0.41332976369758667	0.41248	0.0097119950357	0.00885	0.4694917202	0.34610	T	0.033852	0.23084	T	-0.381968	0.03028	T	-0.313486	0.43283	T	0.0200093719752599	0.00702	T	0.573243	0.20505	T	0.11788116	0.27783	0.13753471	0.32870	0.109312065	0.25844	0.1497496	0.35345	-7.51	0.60797	D	0.14717333319769071	0.17034	0.088	0.11893	B	.;.	.;.	1.688403	0.21515	15.23	0.93350850016474618	0.23085	0.67545	0.33472	D	AEFBI	0.101609	0.20403	N	-0.459802705925618	0.23408	1.256894	-0.48992454941763	0.22429	1.218247	0.00732365359616575	0.11439	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.02	1.47	0.21832	1.047000	0.29976	-0.581000	0.08376	0.665000	0.62972	1.000000	0.71638	0.437000	0.24884	0.038000	0.14061	0.0:0.1867:0.0:0.8133	7.154	0.24805	784	0.47045	.;Laminin G 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	0	0	0.003741	0.000000	0.000000	0.000000	0.000000	0.000000	0.017647	0.000000	0.02632	654.33	39	chr6	63778108	.	T	C	654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.165;DP=691;ExcessHet=0;FS=13.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.307;SOR=2.226	GT:AD:DP:GQ:PL	0/1:36,29:65:99:668,0,951	18	0	1	0
chr6	73452132	73452132	G	C	exonic	CGAS	.	nonsynonymous SNV	CGAS:NM_138441:exon1:c.C50G:p.A17G	.	421	1094	7	0	0	7	0.00318907	.	.	.	699649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00684519550801	0.0042	0.00159744	0.0060	0.0011	0.0018	0	0.0026	0.0093	0.0019	0.0029	0.0041591	643	154602	rs147035222	0.0059	0.0059	0.0060	0.0058	0.0071	0.0058	0.0058	0.0070	0.0070	0.0009	0.0023	0.0002	0	0.0019	0.0011	0.0071	0.0041	0.0022	0.0045	0.0045	0.0048	0.0041	0.0073	0.0042	0.0041	0.0068	0.0066	0.0013	0.0252	0.0041	0.0006	0	0.0021	0	0.0073	0.0047	0.0017	0.25	0.17126	T	0.56	0.09863	T	0.014	0.16867	B	0.004	0.10090	B	0.482463	0.04989	N	1.432470	1	0.08975	N	1.67	0.42885	L	1.07	0.39586	T	-0.6	0.18459	N	0.099	0.08786	-1.0117	0.26385	T	0.028	0.11882	T	10	0.004272878	0.00086	T	0.006845	0.18093	T	0.005	0.00259	.	.	0.0762999501168	0.06990	0.10967838492646804	0.10896	0.450271417464	0.44793	0.434239864349	0.29788	T	0.013292	0.11527	T	-0.576313	0.00203	T	-0.596885	0.13074	T	0.00350563221991704	0.00037	T	0.562144	0.19728	T	0.09623592	0.22664	0.08005401	0.18075	0.09623592	0.22663	0.08005401	0.18075	-3.701	0.19688	T	.	.	0.096	0.15385	B	.;.	.;.	0.992468	0.13703	10.25	0.9311984609042846	0.22755	0.01811	0.05641	N	ALL	0.030426	0.03061	N	-1.09364496241122	0.06759	0.3120952	-1.16168313733487	0.06561	0.3161816	0.999999754903966	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.75	-1.12	0.09306	0.866000	0.27608	1.159000	0.24539	0.526000	0.24426	0.002000	0.15269	0.001000	0.17328	0.009000	0.08673	0.0:0.3465:0.3014:0.352	5.928	0.18362	910	0.22284	.;.	EIF3EP1|EEF1A1|EIF3EP1|KHDC1|KHDC1|EIF3EP1|KHDC1L|EIF3EP1|RP11-398K22.12|EIF3EP1|EIF3EP1|EIF3EP1|MTO1	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|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	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	567.33	35	chr6	73452132	.	G	C	567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=740;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.719;SOR=0.999	GT:AD:DP:GQ:PL	0/1:33,21:54:99:581,0,801	18	0	1	0
chr6	73518150	73518150	G	A	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon7:c.C1144T:p.R382C	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0573187396446	.	.	3.307e-05	0	0	0	0	3.16e-05	0	8.688e-05	3.84e-05	1	26028	rs2882585	7.973e-05	0.0011	6.422e-05	9.544e-05	0.0009	6.766e-05	6.297e-05	0.0008	0.0007	0	6.718e-05	0	0	0	0	2.342e-05	0.0002	0.0009	3.292e-05	0.0002	2.575e-05	4.042e-05	0.0011	1.263e-05	7.99e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	0.036	0.43393	D	0.054	0.48336	T	0.007	0.14184	B	0.001	0.04355	B	0.000003	0.62929	U	0.062472	1	0.81001	D	.	.	.	0.79	0.49068	T	-5.43	0.85323	D	0.792	0.78832	-0.2638	0.75984	T	0.284	0.65635	T	10	0.73739445	0.74717	D	0.057319	0.66924	D	0.414	0.72479	0.587	0.71497	0.856558768636	0.85517	0.792767207575457	0.79229	1.76035964692	0.91122	0.892249345779	0.95538	D	0.571432	0.85816	D	0.26688	0.80159	D	0.145578	0.79903	D	0.995324194431305	0.87221	D	0.776122	0.40827	T	0.29634607	0.52575	0.33900982	0.59672	0.29634607	0.52575	0.33900982	0.59671	-10.406	0.76305	D	.	.	0.919	0.97009	P	.;.;.;.;.	.;.;.;.;.	4.527460	0.71041	25.6	0.99204953591732714	0.55412	0.97176	0.73137	D	AEFBHCI	0.958783	0.97876	D	0.537375405975902	0.69317	5.339769	0.560427786107707	0.72126	5.760939	0.999999999999998	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.81	4.81	0.61401	9.568000	0.97316	3.245000	0.36991	-0.108000	0.15293	1.000000	0.71638	0.695000	0.26199	0.889000	0.42754	0.0:0.0:1.0:0.0	18.312	0.90143	918	0.19598	Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, 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	0.002637	0.010101	0.000000	0.003846	0.000000	0.000000	0.000000	0.000000	0.02632	41.33	34	chr6	73518150	.	G	A	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.995;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.85;MQRankSum=-3.55;QD=0.54;ReadPosRankSum=1.85;SOR=0.834	GT:AD:DP:GQ:PL	0/1:65,11:76:55:55,0,1722	18	0	1	0
chr6	73518250	73518250	G	T	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon7:c.C1044A:p.N348K	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	.	.	0.0058	0.0007	0.0014	0.0002	0.0012	0.0035	0.0124	0.0260	3.84e-05	1	26028	rs190893068	0.0003	0.0085	0.0003	0.0003	0.0011	0.0003	0.0002	0.0009	0.0008	0	9.007e-05	0.0005	0	1.877e-05	0	0.0003	0.0002	0.0011	6.574e-06	0.0001	1.286e-05	0	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.027	0.19556	B	0.074	0.28220	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	0.94	0.43672	T	-4.24	0.76015	D	0.52	0.55019	-0.6145	0.64217	T	0.173	0.51548	T	10	0.0108906925	0.00240	T	.	.	.	0.324	0.64624	0.802	0.92089	0.672029979317	0.66926	0.7722312901423933	0.77173	1.58006647344	0.88371	0.813349545002	0.84006	D	0.527269	0.83575	D	-0.0366621	0.46442	T	-0.290439	0.45727	T	0.124357726080577	0.14851	T	0.820618	0.47957	T	0.85044634	0.87369	0.78603727	0.87400	0.85044634	0.87370	0.78603727	0.87401	-12.916	0.89014	D	.	.	0.971	0.96343	P	.;.;.;.;.	.;.;.;.;.	3.771456	0.54171	23.5	0.99104738477229093	0.52572	0.85549	0.44693	D	AEFDBHCI	0.750651	0.69171	D	0.240238781126076	0.53157	3.485987	0.249650035826306	0.52631	3.436542	0.999999980190295	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.71	3.84	0.43422	3.887000	0.55910	0.946000	0.22888	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0779:0.0:0.9221:0.0	13.281	0.59650	918	0.19598	Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, 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	0.014127	0.005051	0.010870	0.008772	0.000000	0.008621	0.006098	0.034091	0.02632	88.33	34	chr6	73518250	.	G	T	88.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.696;DP=1044;ExcessHet=0;FS=1.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.33;MQRankSum=-6.092;QD=1.09;ReadPosRankSum=-3.483;SOR=0.731	GT:AD:DP:GQ:PL	0/1:70,11:81:99:102,0,1940	18	0	1	0
chr6	73518506	73518506	C	T	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon6:c.G877A:p.E293K	.	473	1036	13	0	0	13	0.00623501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.134818783594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312467300	0.0004	0.0062	0.0003	0.0004	0.0012	0.0003	0.0003	0.0010	0.0009	6.024e-05	0.0001	0.0006	0	0.0001	0.0002	0.0003	0.0003	0.0012	0.0002	0.0021	0.0001	0.0002	0.0024	0.0001	0.0001	0.0014	0.0011	9.686e-05	0	6.65e-05	0	0	9.515e-05	0	0.0001	0.0005	0.0024	0.04	0.42199	D	0.035	0.52727	D	0.124	0.26825	B	0.127	0.32738	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	-0.23	0.66652	T	-2.97	0.61865	D	0.942	0.94904	0.029	0.82835	D	0.448	0.78342	T	10	0.8407221	0.83228	D	0.134819	0.81727	D	0.583	0.83249	.	.	0.897034101692	0.89601	0.8300957998537681	0.82968	1.5806642636	0.88385	0.857482016087	0.90739	D	0.544751	0.84477	D	0.342458	0.85998	D	0.254141	0.85814	D	0.591327620665166	0.36058	D	0.875412	0.58680	D	0.5682314	0.70963	0.44342095	0.67559	0.5682314	0.70964	0.44342095	0.67559	-12.759	0.88346	D	.	.	0.995	0.99585	P	.;.;.;.;.	.;.;.;.;.	4.902669	0.80590	27.4	0.99853741485947101	0.93279	0.95047	0.63245	D	AEFBHCI	0.936541	0.93302	D	0.486767721591307	0.66317	4.934478	0.495264674362681	0.67674	5.115977	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.71	4.71	0.59010	7.573000	0.81745	1.746000	0.28438	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.978000	0.57271	0.0:1.0:0.0:0.0	18.092	0.89406	917	0.20147	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.48	55	chr6	73518506	.	C	T	128.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.736;DP=1030;ExcessHet=0;FS=6.089;InbreedingCoeff=-0.035;MLEAC=1;MLEAF=0.026;MQ=48.37;MQRankSum=-2.578;QD=1.74;ReadPosRankSum=0.675;SOR=1.172	GT:AD:DP:GQ:PL	0/1:61,13:74:99:142,0,1807	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	0/1:27,16:51:99:.:.:823,0,952:.	4	0	10	5
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	0/1:27,14:51:99:.:.:670,0,961:.	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	0/1:27,14:51:99:.:.:670,0,961:.	1	0	7	11
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	TCCCC	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	0/1:23,14:47:63:.:.:601,0,850:.	6	0	4	9
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	0/1:34,10:46:99:.:.:234,0,1227:.	15	0	4	0
chr6	87365206	87365206	A	T	exonic	C6orf163	.	nonsynonymous SNV	C6orf163:NM_001010868:exon5:c.A800T:p.Q267L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0178703898657	.	.	4.587e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs770366853	1.786e-05	1.71e-05	1.41e-05	2.173e-05	0.0005	1.226e-05	1.036e-05	0.0001	7.633e-05	0	0	0	0	0	0.0005	1.39e-05	0	8.834e-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	0.007	0.59928	D	0.151	0.60972	T	.	.	.	.	.	.	0.000077	0.52346	D	0.084010	0.984399	0.40139	D	2.42	0.70002	M	.	.	.	-3.27	0.65512	D	0.421	0.48134	-0.4404	0.70717	T	0.286	0.65773	T	7	0.19274971	0.35016	T	0.01787	0.39735	T	0.160	0.41473	0.273	0.22369	0.495172024023	0.49151	0.5065732039410608	0.50579	.	.	.	.	.	0.104972	0.41501	T	-0.116791	0.33650	T	-0.115395	0.62179	T	0.455506884923092	0.31000	T	0.690631	0.30012	T	0.23611952	0.46458	0.20180039	0.44176	0.23611952	0.46458	0.20180039	0.44175	-5.968	0.46011	T	.	.	0.286	0.53386	B	.;.	.;.	4.142681	0.62078	24.4	0.99498878377640787	0.67916	0.82570	0.41779	D	AEFDGBHCI	0.499567	0.53319	N	0.388962767840738	0.60824	4.275666	0.430862725942508	0.63498	4.584577	0.999999672655869	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	5.386000	0.65987	7.024000	0.57277	0.756000	0.94297	0.961000	0.33663	0.999000	0.35428	0.744000	0.35576	1.0:0.0:0.0:0.0	14.345	0.66218	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	.	.	.	.	.	.	.	.	0.05263	2869.83	34	chr6	87365206	.	A	T	2869.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=868;ExcessHet=0.119;FS=2.076;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.441;SOR=0.574	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1215,0,1751	17	0	2	0
chr6	96799533	96799533	G	A	exonic	GPR63	.	nonsynonymous SNV	GPR63:NM_030784:exon2:c.C199T:p.P67S,GPR63:NM_001143957:exon3:c.C199T:p.P67S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00399335167219	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs764841521	3.42e-06	3.42e-06	2.722e-06	4.125e-06	1.159e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	1.159e-05	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	0.462	0.08685	T	0.78	0.04330	T	0.0	0.02946	B	0.0	0.01387	B	0.356183	0.13740	N	0.666373	1	0.08975	N	-0.205	0.04094	N	1.31	0.35405	T	0.15	0.05310	N	0.013	0.00142	-0.9526	0.40520	T	0.010	0.03719	T	10	0.040436983	0.02613	T	0.003993	0.09462	T	0.014	0.01968	0.365	0.37199	0.110392049598	0.10638	0.278817273603436	0.27794	0.104387959458	0.11810	0.221001565456	0.01368	T	0.016247	0.13465	T	-0.383692	0.02953	T	-0.773437	0.02657	T	0.0201288458678648	0.00714	T	0.59684	0.22194	T	0.019623252	0.00496	0.028038146	0.01004	0.019623252	0.00496	0.028038146	0.01004	-3.259	0.13214	T	.	.	0.077	0.06341	B	.	.	0.091161	0.04949	1.518	0.60094880880285984	0.06380	0.10216	0.15784	N	AEFBI	0.124987	0.24129	N	-1.36216619623936	0.03000	0.1333617	-1.3279554054356	0.04072	0.1913386	2.81445149955121E-4	0.06355	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.15	-3.11	0.04975	-0.220000	0.09220	0.643000	0.20338	-0.194000	0.09177	0.001000	0.13787	0.103000	0.22699	0.944000	0.48669	0.2582:0.0:0.3975:0.3443	4.877	0.13021	753	0.51500	.	.	.	.	.	.	Likely benign	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1824.33	33	chr6	96799533	.	G	A	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=833;ExcessHet=0;FS=4.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.008;SOR=1.029	GT:AD:DP:GQ:PL	0/1:101,71:172:99:1838,0,2671	18	0	1	0
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G,CRYBG1:NM_001371242:exon4:c.A2600G:p.E867G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	77.33	39	chr6	106519808	.	A	G	77.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.326;DP=939;ExcessHet=0;FS=119.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=0.893;SOR=7.378	GT:AD:DP:GQ:PL	0/1:125,39:164:91:91,0,2919	18	0	1	0
chr6	123055944	123055944	G	A	exonic	CLVS2	.	nonsynonymous SNV	CLVS2:NM_001010852:exon5:c.G814A:p.D272N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0383180773209	.	.	1.652e-05	0	0	0	0	1.501e-05	0	6.063e-05	1.29e-05	2	154602	rs752596301	9.577e-06	9.577e-06	6.807e-06	1.238e-05	5.797e-05	5.56e-06	4.35e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.094e-06	0	5.797e-05	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.55530	D	0.594	0.41742	T	0.772	0.43974	P	0.225	0.38015	B	0.000000	0.84330	D	0.044688	0.999998	0.58761	D	0.895	0.22405	L	-1.32	0.79761	T	-0.99	0.26200	N	0.456	0.49328	-0.5563	0.66545	T	0.247	0.61589	T	10	0.3031153	0.47844	T	0.038318	0.58150	D	0.298	0.61843	.	.	0.852312023875	0.85089	0.33349658435655105	0.33262	1.01195624948	0.74809	0.698501944542	0.66928	T	0.051983	0.29033	T	-0.147006	0.28781	T	-0.267412	0.48080	T	0.666464447975159	0.39181	D	0.878412	0.59357	D	0.21583436	0.44026	0.23194104	0.48340	0.21583436	0.44026	0.23194104	0.48339	-3.654	0.18876	T	.	.	0.156	0.34536	B	.;.	.;.	4.435368	0.68814	25.3	0.99885994342497131	0.96126	0.98617	0.84749	D	AEFBI	0.920386	0.89228	D	0.457463656549216	0.64629	4.721668	0.603121332604457	0.75167	6.262801	0.999999809180927	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	9.602000	0.97623	9.870000	0.82121	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	20.298	0.98571	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2065.33	41	chr6	123055944	.	G	A	2065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=827;ExcessHet=0;FS=0.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.38;SOR=0.785	GT:AD:DP:GQ:PL	0/1:99,81:180:99:2079,0,2528	18	0	1	0
chr6	130144710	130144710	T	G	exonic	SAMD3	.	nonsynonymous SNV	SAMD3:NM_001277185:exon11:c.A1445C:p.K482T,SAMD3:NM_001017373:exon12:c.A1373C:p.K458T,SAMD3:NM_001258275:exon14:c.A1373C:p.K458T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.020636192408	.	.	8.254e-06	9.63e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs760129367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.42487	T	0.018	0.60337	D	0.319	0.32965	B	0.193	0.36509	B	0.003198	0.35300	N	0.199443	0.520786	0.31895	D	2.35	0.67516	M	0.84	0.47815	T	-0.86	0.24676	N	0.179	0.24758	-1.0879	0.05890	T	0.062	0.25958	T	10	0.17444801	0.32324	T	0.020636	0.43275	T	0.090	0.26093	0.322	0.30226	0.567821670524	0.56447	0.3094454451243143	0.30857	0.0518266228191	0.05701	0.314308285713	0.12558	T	0.051484	0.28893	T	-0.227722	0.16951	T	-0.383356	0.35328	T	0.220024157395835	0.21465	T	0.794021	0.43594	T	0.10496273	0.24816	0.09155652	0.21533	0.10496273	0.24816	0.09155652	0.21532	-5.39	0.40910	T	.	.	0.101	0.17657	B	.;.;.;.	.;.;.;.	2.251745	0.28762	17.90	0.99446756443886608	0.65071	0.89464	0.49945	D	AEFBI	0.374665	0.45948	N	-0.23153491661883	0.31845	1.789872	-0.183173700547184	0.32154	1.826543	0.00616354876641816	0.11146	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.645665	0.59343	0	.	.	5.29	4.13	0.47661	2.657000	0.46389	0.502000	0.19004	0.665000	0.62972	0.998000	0.41325	0.000000	0.08366	0.019000	0.11356	0.0:0.0776:0.0:0.9224	9.954	0.40825	932	0.16191	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1266.33	33	chr6	130144710	.	T	G	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.28;SOR=0.751	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1280,0,1496	18	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	61.54	35	chr6	149378547	.	A	G	61.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.414;DP=1326;ExcessHet=0.119;FS=171.797;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.13;ReadPosRankSum=0.368;SOR=10.15	GT:AD:DP:GQ:PL	0/1:187,51:238:5:5,0,4171	17	0	2	0
chr6	160633809	160633809	-	GCTT	exonic	LPA	.	frameshift insertion	LPA:NM_005577:exon8:c.1178_1179insAAGC:p.W394Sfs*11	.	25	1478	19	0	0	19	0.00638655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0009	0.0008	0	0.0004	0.0039	0.0032	0.0001	0.0006662	103	154602	rs762351463	0.0008	0.0027	0.0008	0.0008	0.0016	0.0007	0.0007	0.0009	0.0009	0	0.0002	0.0004	0	4.749e-05	0.0016	0.0010	0.0006	0	0.0008	0.0022	0.0010	0.0006	0.0013	0.0007	0.0007	0.0011	0.0010	0.0004	0	0.0007	0.0012	0	0	0.0054	0.0013	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1416.29	37	chr6	160633809	.	A	AGCTT	1416.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.365;DP=918;ExcessHet=0;FS=7.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.27;MQRankSum=-1.948;QD=3.91;ReadPosRankSum=-0.58;SOR=0.938	GT:AD:DP:GQ:PL	0/1:306,56:362:99:1430,0,12644	18	0	1	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,15:48:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:477,0,1310:167976249	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,15:48:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:477,0,1310:167976249	11	2	5	1
chr6	169231333	169231333	A	G	exonic	THBS2	.	nonsynonymous SNV	THBS2:NM_001381940:exon14:c.T2243C:p.F748S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	36.51	.	chr6	169231333	.	A	G	36.51	.	AC=2;AF=0.077;AN=26;DP=24;ExcessHet=0;FS=0;InbreedingCoeff=0.1739;MLEAC=2;MLEAF=0.077;MQ=60;QD=18.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	6
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|1:1,70:71:99:1|1:170561949_GCAA_G:2893,193,0:170561949	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|0:1,54:85:99:1|0:170561949_GCAA_G:4035,1135,934:170561949	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	0/1:52,40:92:99:.:.:1959,0,2106:.	6	5	8	0
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	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	35.99	37	chr7	290724	.	A	G	35.99	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.313;DP=593;ExcessHet=0.119;FS=70.283;InbreedingCoeff=-0.0593;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=-0.271;SOR=6.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:40:0|1:290724_A_G:40,0,600:290724	17	0	2	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|1:18,18:36:99:0|1:290724_A_G:273,0,237:290724	2	0	16	1
chr7	4817256	4817256	C	T	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon7:c.G1711A:p.V571I	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.127446173513	0.0002	0.000199681	5.047e-05	0.0003	0	0	0.0002	3.057e-05	0	0	5.82e-05	9	154602	rs201349013	5.412e-05	5.609e-05	5.452e-05	5.371e-05	0.0003	4.416e-05	4.088e-05	6.103e-05	4.031e-05	0	0	0	2.521e-05	9.526e-05	0.0003	5.579e-05	0.0001	2.322e-05	5.254e-05	5.249e-05	6.425e-05	4.029e-05	7.221e-05	2.556e-05	1.829e-05	1.972e-05	1.125e-05	7.221e-05	0	0	0	0	0	0.0034	5.881e-05	0	0	0.01	0.56456	D	0.01	0.65728	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999442	0.47080	D	2.25	0.63811	M	0.83	0.47815	T	-0.96	0.25551	N	0.514	0.54496	-0.2984	0.75029	T	0.342	0.70729	T	10	0.42908755	0.57371	T	0.127446	0.80925	D	0.260	0.57221	.	.	0.620428437143	0.61735	0.29422956749615026	0.29335	0.284859966961	0.30900	0.52285349369	0.42028	T	0.050042	0.28480	T	-0.269725	0.11788	T	-0.345783	0.39688	T	0.267357804042143	0.23634	T	0.889511	0.62170	D	0.25034857	0.48036	0.21430285	0.45975	0.25034857	0.48036	0.21430285	0.45974	-11.452	0.82079	D	.	.	0.128	0.27343	B	.	.	4.556778	0.71761	25.7	0.99897463313264878	0.96971	0.98154	0.80066	D	AEFDGBI	0.838925	0.75639	D	0.783856294560163	0.85085	8.472346	0.753967800495872	0.86454	8.894027	0.999999916218597	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.7	5.7	0.88690	5.489000	0.66595	5.764000	0.49701	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.406	0.90482	814	0.42100	Dilute domain|Rasip1/Radil, cargo-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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	796.33	33	chr7	4817256	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.138;DP=686;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.161;SOR=0.671	GT:AD:DP:GQ:PL	0/1:35,36:71:99:810,0,801	18	0	1	0
chr7	30452750	30452750	G	A	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon6:c.C667T:p.R223W,NOD1:NM_006092:exon6:c.C667T:p.R223W	.	418	1103	1	0	0	1	0.000453104	.	.	.	2246175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.0241533257917	0.0008	0.000399361	0.0002	0.0014	0	0.0003	0	3.003e-05	0	0	0.0001617	25	154602	rs149728096	7.662e-05	7.661e-05	8.169e-05	7.151e-05	0.0019	6.491e-05	6.071e-05	0.0015	0.0014	0.0019	8.944e-05	0	0.0001	1.879e-05	0.0007	2.068e-05	0.0002	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0	0	0.0004	0.0003	0	1.47e-05	0.0005	0	0.02	0.49613	D	0.001	0.83351	D	0.995	0.67487	D	0.625	0.51564	P	0.067959	0.21706	N	0.516121	0.999596	0.47742	D	1.65	0.42232	L	1.98	0.21865	T	-3.2	0.64710	D	0.285	0.32259	-1.1122	0.02887	T	0.063	0.26208	T	10	0.09450865	0.16810	T	0.024153	0.47134	T	0.100	0.28662	.	.	0.700317373113	0.69772	0.5565608058787335	0.55583	0.578397025268	0.53743	0.226193457842	0.01698	T	0.458198	0.79627	T	-0.537957	0.00345	T	-0.551682	0.17165	T	0.0807751470064164	0.10086	T	0.70423	0.31438	T	0.12999429	0.30344	0.119958505	0.28951	0.12999429	0.30344	0.119958505	0.28950	-8.418	0.63884	D	.	.	0.096	0.15475	B	.	.	3.501635	0.48989	22.7	0.99643165505060638	0.76819	0.74968	0.36687	D	AEFDGBCI	.	.	.	-0.110092362858492	0.36953	2.143043	-0.235953134605368	0.30259	1.702135	0.824454303929287	0.24582	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.49	2.54	0.29674	2.635000	0.46203	5.162000	0.47795	-0.103000	0.15852	0.976000	0.34826	1.000000	0.68203	0.008000	0.08271	0.0879:0.2478:0.5555:0.1089	5.461	0.15915	840	0.37365	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1862.33	151	chr7	30452750	.	G	A	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=1682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.5;SOR=0.72	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1876,0,1504	18	0	1	0
chr7	30609652	30609652	C	T	exonic	GARS1	.	nonsynonymous SNV	GARS1:NM_001316772:exon7:c.C641T:p.T214I,GARS1:NM_002047:exon7:c.C803T:p.T268I	.	0	1506	14	2	0	18	0.00594059	.	.	.	186076	not_provided|Distal_spinal_muscular_atrophy|not_specified|Charcot-Marie-Tooth_disease_type_2D|Charcot-Marie-Tooth_disease|GARS1-related_disorder|Neuronopathy,_distal_hereditary_motor,_type_5A|Charcot-Marie-Tooth_disease_type_2	MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MedGen:CN169374|MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|.|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.654	0.193580715213	0.0048	0.00119808	0.0032	0.0009	0.0015	0	0.0041	0.0047	0.0056	0.0005	0.0030595	473	154602	rs2230310	0.0040	0.0040	0.0039	0.0040	0.0078	0.0039	0.0039	0.0060	0.0054	0.0006	0.0019	0.0072	0	0.0044	0.0078	0.0044	0.0046	0.0006	0.0035	0.0035	0.0039	0.0031	0.0055	0.0033	0.0032	0.0050	0.0048	0.0008	0.0022	0.0037	0.0049	0.0002	0.0036	0.0034	0.0055	0.0085	0	0.007	0.59928	D	0.001	0.83351	D	0.656	0.40834	P	0.284	0.40463	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.28	0.79376	T	-5.13	0.83224	D	0.477	0.51226	0.049	0.83226	D	0.429	0.77166	T	10	0.011372536	0.00249	T	0.193581	0.86312	D	0.654	0.86986	.	.	0.656850147153	0.65398	0.6488353436794381	0.64819	0.992276791198	0.74123	0.724661707878	0.70727	T	0.710319	0.91732	D	-0.216677	0.18448	T	-0.0795922	0.64933	T	0.105837824231152	0.12987	T	0.877812	0.59215	D	0.48011655	0.65907	0.28370938	0.54365	0.53098977	0.68888	0.27154577	0.53055	-13.091	0.89734	D	0.8195023017342251	0.89277	0.835	0.78969	P	.	.	4.249182	0.64489	24.7	0.99915499416756404	0.98379	0.96449	0.69194	D	AEFBI	0.690319	0.65069	D	0.578111021577354	0.71811	5.707834	0.624917481050053	0.76756	6.549694	0.999999999462062	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	4.86	0.62624	6.036000	0.70590	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9196:0.0:0.0804	13.460	0.60673	723	0.55174	Aminoacyl-tRNA synthetase, class II|Glycyl-tRNA synthetase-like core 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	0.007056	0.000000	0.006793	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	1176.33	33	chr7	30609652	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.19;SOR=0.659	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1190,0,1226	18	0	1	0
chr7	30753866	30753866	G	A	exonic	INMT	.	stopgain	INMT:NM_001199219:exon2:c.G287A:p.W96X,INMT:NM_006774:exon2:c.G290A:p.W97X	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.472e-05	9.623e-05	0	0	0	2.998e-05	0	0	3.23e-05	5	154602	rs764793986	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0002	1.738e-05	1.539e-05	1.998e-05	1.74e-05	0	2.236e-05	0	0	0	0.0002	2.788e-05	3.311e-05	0	3.283e-05	3.281e-05	3.854e-05	2.685e-05	6.535e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	6.535e-05	0	0	0	0.0034	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.026207	0.25958	N	0.264539	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.685	0.69213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.364779	0.98828	41	0.99613182821204127	0.74932	0.96158	0.67799	D	AEFBI	0.379737	0.46264	N	0.698948791166025	0.79563	7.104218	0.492420027529447	0.67486	5.09057	0.999999999756771	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	3.69	3.69	0.41483	7.724000	0.83759	8.181000	0.76777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:1.0:0.0	13.316	0.59847	922	0.19044	.;.	.	.	.	.	.	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	1686.33	34	chr7	30753866	.	G	A	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=772;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.029;SOR=1.01	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1700,0,1609	18	0	1	0
chr7	36540333	36540333	C	T	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon15:c.G1196A:p.R399K,AOAH:NM_001177506:exon16:c.G1292A:p.R431K,AOAH:NM_001637:exon16:c.G1292A:p.R431K	.	424	1089	7	2	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00446102551302	0.0012	0.000998403	0.0011	0.0006	0.0005	0.0002	0.0002	0.0017	0.0023	0.0003	0.0010608	164	154602	rs140099559	0.0011	0.0011	0.0010	0.0011	0.0082	0.0010	0.0010	0.0063	0.0056	0.0006	0.0008	0	2.52e-05	0.0004	0.0082	0.0012	0.0015	0.0003	0.0010	0.0010	0.0012	0.0009	0.0017	0.0009	0.0008	0.0014	0.0013	0.0003	0	0.0012	0	0	9.43e-05	0.0034	0.0017	0.0019	0.0004	.	.	.	0.108	0.41405	T	0.046	0.21875	B	0.04	0.23831	B	0.000433	0.44522	N	0.153563	0.558999	0.32197	D	.	.	.	.	.	.	.	.	.	0.454	0.53620	-0.9813	0.34701	T	0.043	0.18451	T	9	0.022449523	0.00561	T	0.004461	0.10937	T	.	.	.	.	0.311387274539	0.30754	0.6546200457291987	0.65398	.	.	0.424298048019	0.28428	T	0.128553	0.45627	T	-0.317711	0.07087	T	-0.235314	0.51255	T	0.0780849456787109	0.09740	T	0.690331	0.29972	T	0.37246248	0.58767	0.17977946	0.40734	0.37246248	0.58767	0.17977946	0.40733	-8.78	0.66596	D	.	.	0.119	0.31279	B	.;.;.	.;.;.	2.231878	0.28490	17.81	0.97571353874165978	0.34681	0.75740	0.37099	D	AEFBI	0.328338	0.42903	N	0.077221669611972	0.45402	2.797306	0.208472086984411	0.50318	3.225032	0.659555504356492	0.22255	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.98	5.1	0.68917	2.302000	0.43298	0.538000	0.19308	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.997000	0.79791	0.0:0.9218:0.0:0.0782	12.484	0.55203	940	0.13648	.;GDSL lipase/esterase;GDSL lipase/esterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007064	0.000000	0.006793	0.023392	0.050000	0.000000	0.000000	0.003817	0.02632	871.33	35	chr7	36540333	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.104;DP=695;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.521;SOR=0.532	GT:AD:DP:GQ:PL	0/1:31,35:66:99:885,0,738	18	0	1	0
chr7	36548649	36548649	C	T	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon14:c.G1000A:p.V334I,AOAH:NM_001177506:exon15:c.G1096A:p.V366I,AOAH:NM_001637:exon15:c.G1096A:p.V366I	.	412	1083	27	0	0	27	0.0123119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0055	0.00499201	0.0026	0.0139	0.0010	0	0.0003	0.0006	0.0055	0.0064	0.0023286	360	154602	rs78005813	0.0011	0.0012	0.0010	0.0013	0.0155	0.0011	0.0011	0.0144	0.0140	0.0155	0.0011	0.0002	2.52e-05	0.0007	0.0064	0.0003	0.0019	0.0065	0.0049	0.0049	0.0051	0.0047	0.0150	0.0046	0.0045	0.0140	0.0136	0.0150	0	0.0027	0.0003	0	0.0006	0.0034	0.0005	0.0028	0.0064	.	.	.	0.214	0.31730	T	0.992	0.64738	D	0.542	0.48916	P	0.000143	0.49130	N	0.085017	0.745789	0.34899	D	.	.	.	.	.	.	.	.	.	0.441	0.47949	-0.7821	0.56184	T	0.086	0.33354	T	9	0.009813219	0.00220	T	.	.	.	.	.	.	.	0.646205260438	0.64327	0.3272704655681035	0.32640	.	.	0.474855154753	0.35350	T	0.068564	0.33489	T	-0.356989	0.04303	T	-0.272593	0.47556	T	0.0172766023879801	0.00468	T	0.721828	0.33531	T	0.08220265	0.18926	0.07781894	0.17372	0.08220265	0.18926	0.07781894	0.17371	-6.686	0.53403	T	.	.	0.081	0.11701	B	.;.;.	.;.;.	3.229203	0.44031	21.9	0.99837696417451993	0.91886	0.79780	0.39601	D	AEFBI	0.255849	0.37489	N	0.413658013603237	0.62173	4.428928	0.409116299472035	0.62132	4.423605	0.700943074729787	0.22699	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.06	5.18	0.71140	2.349000	0.43710	1.672000	0.27961	-0.176000	0.10722	0.975000	0.34726	0.906000	0.28050	0.081000	0.17303	0.0:0.9232:0.0:0.0768	12.754	0.56697	939	0.14249	.;GDSL lipase/esterase;GDSL lipase/esterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.010101	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1700.33	33	chr7	36548649	.	C	T	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=808;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.465;SOR=0.688	GT:AD:DP:GQ:PL	0/1:91,74:165:99:1714,0,2147	18	0	1	0
chr7	45084105	45084224	TCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1956_2075del:p.E652_T691del	.	663	845	13	1	0	15	0.00879765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0179	0.0380	0	0	0.0769	0.0071	0	0.0403	.	.	.	.	0.0139	0.0013	0.0148	0.0132	0.2052	0.0132	0.0129	0.1741	0.1625	0.2052	0.0130	0.0159	0.0024	0.0129	0.0316	0.0115	0.0114	0.0236	0.0141	0.0024	0.0117	0.0159	0.1000	0.0092	0.0077	0.0187	0.0128	0.0429	.	0.0149	0	0	0.0156	0	0.0066	0	0.1000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	592.8	4	chr7	45084104	.	ATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGT	A	592.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.938;DP=159;ExcessHet=0;FS=0;InbreedingCoeff=0.6478;MLEAC=2;MLEAF=0.053;MQ=39.22;MQRankSum=0.876;QD=22.8;ReadPosRankSum=-1.18;SOR=0.544	GT:AD:DP:GQ:PL	1/1:1,25:26:47:619,47,0	18	1	0	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	1177.08	4	chr7	45084224	.	T	*	1177.08	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.96;DP=787;ExcessHet=0.0731;FS=31.269;InbreedingCoeff=0.1446;MLEAC=3;MLEAF=0.136;MQ=45.07;MQRankSum=-1.997;QD=6.1;ReadPosRankSum=-1.915;SOR=2.282	GT:AD:DP:GQ:PL	1/1:1,25:26:47:619,47,0	10	1	0	8
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1923	628.94	36	chr7	47829595	.	G	C	628.94	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.169;DP=1751;ExcessHet=1.3;FS=181.294;InbreedingCoeff=-0.2531;MLEAC=6;MLEAF=0.231;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.191;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,22:109:3:0|1:47829595_G_C:3,0,2101:47829595	8	0	5	6
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|1:87,22:109:3:0|1:47829595_G_C:3,0,2101:47829595	4	0	15	0
chr7	74099072	74099072	G	C	exonic	LIMK1	.	nonsynonymous SNV	LIMK1:NM_001204426:exon4:c.G340C:p.E114Q,LIMK1:NM_002314:exon5:c.G442C:p.E148Q	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0293260840055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.575e-06	6.567e-06	0	1.346e-05	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.095	0.31235	T	0.165	0.30926	T	0.991	0.64070	D	0.794	0.57880	P	0.000033	0.55875	D	0.000000	0.996935	0.43515	D	1.875	0.49914	L	-0.92	0.75553	T	-1.01	0.28497	N	0.5	0.54147	-0.2652	0.75945	T	0.422	0.76717	T	10	0.410626	0.56199	T	0.029326	0.51857	D	0.154	0.40340	0.324	0.30549	0.761319916349	0.75914	0.2620020555747723	0.26114	1.20624080121	0.80715	0.590127468109	0.51511	T	0.026075	0.40616	T	-0.00175005	0.51412	T	-0.157425	0.58582	T	0.587608814239502	0.35912	D	0.919208	0.70896	D	0.20474616	0.42595	0.107084386	0.25773	0.20474616	0.42594	0.107084386	0.25772	-10.171	0.74929	D	.	.	0.179	0.39012	B	.;.;.	.;.;.	4.052342	0.60070	24.2	0.99765012148496468	0.85417	0.99589	0.97750	D	AEFDBI	0.829538	0.74843	D	0.452008857309421	0.64316	4.683487	0.536426737798186	0.70459	5.50831	0.999999993531428	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.41	5.41	0.78313	6.418000	0.73248	9.693000	0.81279	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	14.763	0.69240	859	0.33891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	583.33	42	chr7	74099072	.	G	C	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.184;SOR=0.673	GT:AD:DP:GQ:PL	0/1:39,24:63:99:597,0,957	18	0	1	0
chr7	88760025	88760025	T	C	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon1:c.T49C:p.Y17H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0110375439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.988	0.77976	D	0.002796	0.35935	N	0.000000	0.950349	0.37691	D	0.55	0.14455	N	3.21	0.07125	T	-2.06	0.47175	N	0.808	0.80375	-1.0326	0.19618	T	0.037	0.15856	T	10	0.68155414	0.71310	D	0.011038	0.28250	T	0.222	0.51872	0.411	0.44723	0.1749357433	0.17121	0.43984108446565895	0.43901	0.295617637579	0.31967	0.809829473495	0.83466	D	0.069234	0.33658	T	-0.069114	0.41469	T	-0.337054	0.40678	T	0.980498731136322	0.73390	D	0.761424	0.38629	T	0.37237462	0.58760	0.61711323	0.77707	0.37237462	0.58761	0.61711323	0.77708	-2.895	0.09094	T	.	.	0.948	0.86699	P	.	.	4.996662	0.82880	27.9	0.99821587551302193	0.90414	0.91231	0.53118	D	AEFBCI	0.783738	0.71463	D	0.516863145539173	0.68086	5.169131	0.553392917516411	0.71634	5.684739	0.999959816253622	0.48110	0.455138	0.09556	0	0.563428	0.19063	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	5.08	5.08	0.68373	5.628000	0.67466	7.591000	0.61250	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.996	0.71087	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2820.33	33	chr7	88760025	.	T	C	2820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.055;DP=915;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.426;SOR=0.671	GT:AD:DP:GQ:PL	0/1:105,116:221:99:2834,0,2509	18	0	1	0
chr7	92052726	92052726	T	G	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon22:c.T5369G:p.V1790G,AKAP9:NM_147185:exon22:c.T5369G:p.V1790G	.	27	1477	15	3	0	21	0.00705882	0	0.062	.	178589	Sudden_cardiac_death|Long_QT_syndrome|Congenital_long_QT_syndrome|Cardiovascular_phenotype|not_specified|AKAP9-related_disorder|not_provided|Long_QT_syndrome_11	EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN230736|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.0118417902771	0.0008	0.000798722	0.0009	0.0002	0.0017	0	0.0008	0.0011	0.0012	0.0009	0.0008732	135	154602	rs151021935	0.0007	0.0007	0.0007	0.0007	0.0287	0.0007	0.0007	0.0251	0.0238	0.0003	0.0018	0.0039	0	0.0002	0.0287	0.0005	0.0015	0.0008	0.0009	0.0009	0.0008	0.0010	0.0019	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0037	0	0.0002	0.0204	0.0010	0.0019	0.0019	0.476	0.08335	T	0.117	0.36365	T	.	.	.	.	.	.	0.284174	0.14889	N	0.508000	0.997967	0.44365	D	.	.	.	3.84	0.03675	T	-0.19	0.09965	N	0.352	0.52029	-0.9050	0.47447	T	0.007	0.02558	T	9	0.0068029463	0.00155	T	0.011842	0.29861	T	0.125	0.34456	.	.	0.237489013734	0.23353	0.13633560980467907	0.13557	0.0662238468404	0.07386	0.368595659733	0.20630	T	0.27611	0.64868	T	-0.498775	0.00581	T	-0.524611	0.19828	T	0.0105244483969655	0.00146	T	0.510849	0.16474	T	0.02878433	0.02270	0.033207912	0.02177	0.02878433	0.02270	0.033207912	0.02176	-3.732	0.19791	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	1.431281	0.18497	13.77	0.75191252728083136	0.10980	0.71057	0.34850	D	AEFBI	0.181168	0.30848	N	-0.706442084114323	0.15840	0.8018866	-0.602666852924261	0.19424	1.042079	0.99175183143928	0.32597	0.706548	0.73137	0	0.633656	0.55848	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.91	2.48	0.29194	1.281000	0.32819	1.119000	0.24226	-0.263000	0.06870	0.911000	0.31706	0.888000	0.27792	0.817000	0.38496	0.1652:0.095:0.1712:0.5686	1.829	0.02936	492	0.76569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021717	0.020408	0.016304	0.064706	0.000000	0.043103	0.009202	0.000000	0.02632	883.33	35	chr7	92052726	.	T	G	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=682;ExcessHet=0;FS=6.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=1.07;SOR=1.721	GT:AD:DP:GQ:PL	0/1:22,30:52:99:897,0,473	18	0	1	0
chr7	93101365	93101365	A	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.T4733C:p.I1578T,SAMD9:NM_017654:exon3:c.T4733C:p.I1578T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	8	1506	8	0	0	8	0.00264901	.	.	.	700283	SAMD9-related_disorder|Monosomy_7_myelodysplasia_and_leukemia_syndrome_2|Normophosphatemic_familial_tumoral_calcinosis|MIRAGE_syndrome|not_specified|not_provided	.|MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715|MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0082	0.00119808	0.0063	0.0027	0.0047	0.0001	0.0033	0.0097	0.0055	0.0004	0.0061189	946	154602	rs144380633	0.0086	0.0086	0.0089	0.0082	0.0103	0.0084	0.0084	0.0101	0.0100	0.0031	0.0033	0.0050	0.0002	0.0041	0.0045	0.0103	0.0072	0.0005	0.0063	0.0063	0.0071	0.0053	0.0095	0.0059	0.0058	0.0089	0.0086	0.0028	0.0515	0.0053	0.0043	0.0002	0.0032	0	0.0095	0.0057	0.0010	0.117	0.28271	T	0.261	0.22962	T	0.034	0.20480	B	0.01	0.14941	B	0.000101	0.51296	U	0.076580	0.865367	0.35463	D	1.325	0.33218	L	1.7	0.26885	T	-1.38	0.34198	N	0.289	0.32701	-1.0491	0.14649	T	0.040	0.17063	T	10	0.003968388	0.00076	T	.	.	.	0.057	0.16321	.	.	0.39798585902	0.39410	0.761286815586817	0.76076	0.204124172079	0.22834	0.408249616623	0.26215	T	0.009829	0.08919	T	-0.50466	0.00538	T	-0.487298	0.23673	T	0.0117568175455189	0.00181	T	0.641436	0.25361	T	0.033533625	0.03591	0.070413545	0.14956	0.036537778	0.04512	0.070413545	0.14955	-2.395	0.05102	T	0.3746701528559821	0.46981	0.108	0.20625	B	.;.	.;.	2.065214	0.26261	17.06	0.97686562160227419	0.35346	0.95653	0.65588	D	AEFBI	0.415768	0.48450	N	-0.0830117775747788	0.38137	2.229104	0.0398832287104833	0.41586	2.500856	0.617595841576832	0.21856	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.44	3.3	0.36912	3.823000	0.55415	1.280000	0.25345	0.731000	0.85647	0.999000	0.42656	0.553000	0.25478	0.968000	0.53726	0.9074:0.0:0.0926:0.0	9.291	0.36945	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.006793	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	781.83	33	chr7	93101365	.	A	G	781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.29;DP=645;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.11;SOR=0.629	GT:AD:DP:GQ:PL	0/1:13,16:29:99:415,0,317	17	0	2	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|1:139,30:169:99:0|1:93102964_C_G:177,0,5153:93102964	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|1:139,30:169:99:0|1:93102964_C_G:177,0,5153:93102964	5	0	14	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	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	0	0	1	0	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.05263	2152.83	87	chr7	95311568	.	A	C	2152.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.94;DP=756;ExcessHet=0.119;FS=2.909;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=2.41;SOR=0.931	GT:AD:DP:GQ:PL	0/1:40,37:77:99:977,0,994	17	0	2	0
chr7	100023865	100023865	G	A	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon2:c.G359A:p.R120H,ZKSCAN1:NM_003439:exon2:c.G359A:p.R120H,ZKSCAN1:NM_001346580:exon3:c.G251A:p.R84H,ZKSCAN1:NM_001346581:exon3:c.G359A:p.R120H,ZKSCAN1:NM_001287054:exon4:c.G251A:p.R84H	.	434	1086	2	0	0	2	0.000919963	.	.	.	4099512	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.00976095851935	.	.	0.0001	0	0.0005	0	0	6.054e-05	0.0011	0.0001	8.41e-05	13	154602	rs760995920	6.364e-05	6.362e-05	4.766e-05	7.978e-05	0.0026	5.297e-05	4.913e-05	0.0016	0.0013	0	0.0004	0	0	0.0002	0.0026	2.788e-05	0.0001	6.958e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.552e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.552e-05	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.471	0.12211	T	0.999	0.90584	D	0.991	0.84481	D	0.000129	0.49741	D	0.000000	0.928861	0.81001	D	-0.225	0.03956	N	3.43	0.05440	T	2.19	0.04947	N	0.245	0.31027	-0.9690	0.37407	T	0.018	0.07282	T	10	0.07483092	0.11488	T	0.009761	0.25472	T	0.267	0.58126	0.44	0.49484	0.657837784098	0.65497	0.5035634066487601	0.50278	1.56499820143	0.88101	0.486074835062	0.36895	T	0.015713	0.13127	T	-0.311552	0.07613	T	-0.351149	0.39074	T	0.111583270544385	0.13586	T	0.846915	0.60121	T	0.05800169	0.11615	0.03862442	0.03773	0.05800169	0.11615	0.03862442	0.03773	-3.053	0.10763	T	.	.	0.097	0.26357	B	.;.;.;.	.;.;.;.	4.132942	0.61862	24.4	0.80341311032696938	0.13157	0.82721	0.41910	D	AEFBCI	0.200505	0.32723	N	0.0820579115187075	0.45626	2.81605	0.153117975017281	0.47306	2.962926	0.999990061582415	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.63	4.63	0.57175	2.626000	0.46126	8.660000	0.77968	0.618000	0.50648	0.979000	0.35152	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	12.851	0.57246	122	0.95130	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	807.33	35	chr7	100023865	.	G	A	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.944;DP=695;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.482;SOR=0.4	GT:AD:DP:GQ:PL	0/1:33,33:66:99:821,0,913	18	0	1	0
chr7	100118443	100118443	A	G	exonic	TAF6	.	nonsynonymous SNV	TAF6:NM_001365004:exon2:c.T32C:p.L11P	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.352e-06	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	.	.	.	.	.	.	.	.	0.06667	34.96	1	chr7	100118443	.	A	G	34.96	.	AC=2;AF=0.067;AN=30;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=0.1898;MLEAC=2;MLEAF=0.067;MQ=60;QD=17.48;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	14	1	0	4
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|1:40,23:63:99:0|1:100175805_G_C:695,0,1590:100175805	1	0	18	0
chr7	100734191	100734191	T	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon2:c.T23C:p.L8P,ZAN:NM_173059:exon2:c.T23C:p.L8P	.	453	1061	7	1	0	9	0.00422337	.	.	.	2353381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	0.0334709470433	0.0003	.	0.0003	0	0	0	0	0.0005	0.0055	0	7.76e-05	12	154602	rs377089635	8.121e-05	8.564e-05	8.999e-05	7.221e-05	0.0018	6.857e-05	6.344e-05	0.0010	0.0008	0	0.0001	0	0	0	0.0018	6.336e-05	0.0004	7.742e-05	7.096e-05	8.941e-05	9.691e-05	4.367e-05	0.0001	3.781e-05	2.909e-05	7.393e-05	5.541e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.974	0.73157	D	0.008620	0.30756	N	0.000000	0.949226	0.81001	D	0.805	0.20218	L	2.19	0.18724	T	-2.54	0.55025	D	0.493	0.59732	-1.1065	0.03388	T	0.071	0.28936	T	10	0.19088286	0.34751	T	0.033471	0.55002	D	0.256	0.56694	.	.	0.139678290688	0.13603	0.572241483462103	0.57152	0.520573719008	0.49853	0.516910076141	0.41192	T	0.038082	0.24714	T	-0.0722783	0.40963	T	-0.0771708	0.65111	T	0.403770327568054	0.29084	T	0.517348	0.16736	T	0.51957893	0.68235	0.5424738	0.73555	0.51957893	0.68236	0.5424738	0.73556	-7.158	0.55179	T	.	.	0.365	0.57511	A	.;.;.;.	.;.;.;.	3.398919	0.47096	22.4	0.99816145851160498	0.89973	0.79510	0.39413	D	AEFBI	0.180764	0.30808	N	0.181785157822672	0.50324	3.223545	0.110239427017134	0.45071	2.776916	0.00623508965529941	0.11164	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	3.7	2.51	0.29435	1.494000	0.35225	5.195000	0.47912	0.661000	0.55757	0.981000	0.35396	1.000000	0.68203	0.804000	0.37906	0.0:0.0:0.229:0.771	7.166	0.24868	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	0.004792	0.000000	0.004310	0.003030	0.000000	0.009434	0.009615	0.007937	0.02632	1133.33	33	chr7	100734191	.	T	C	1133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.061;DP=714;ExcessHet=0;FS=4.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.497;SOR=1.151	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1147,0,1011	18	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R,ZAN:NM_173059:exon13:c.C1548G:p.S516R	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;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	0.015121	0.005051	0.005435	0.017544	0.000000	0.008621	0.015337	0.049242	0.07895	2389.79	34	chr7	100751208	.	C	G	2389.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.847;DP=777;ExcessHet=0.3672;FS=1.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.637;SOR=0.576	GT:AD:DP:GQ:PL	0/1:43,29:72:99:620,0,1078	16	0	3	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|1:0,129:129:99:1|1:100773849_CCAT_C:5764,388,0:100773849	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	1/1:0,110:110:99:4947,334,0	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|1:385,134:583:99:0|1:100952942_T_G:4468,0,15763:100952942	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|1:361,128:564:99:0|1:100953098_G_C:4288,0,14773:100953098	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	0/1:354,120:547:99:.:.:3973,0,14503:.	2	0	17	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3612.6	563	chr7	100953225	.	G	*	3612.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.03;DP=7885;ExcessHet=20.8569;FS=1.9;InbreedingCoeff=-0.6525;MLEAC=4;MLEAF=0.105;MQ=58.04;MQRankSum=-18.59;QD=0.58;ReadPosRankSum=-5.535;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,36:431:1:0|1:100953222_C_T:467,0,14824:100953222	14	0	5	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	8426.48	1172	chr7	100953494	.	C	*	8426.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.742;DP=16599;ExcessHet=6.9875;FS=0.87;InbreedingCoeff=-0.3626;MLEAC=2;MLEAF=0.053;MQ=57.3;MQRankSum=-6.987;QD=0.93;ReadPosRankSum=-2.301;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:722,105:902:99:0|1:100953471_A_C:2200,0,30381:100953471	17	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	30931.2	1245	chr7	100953548	.	C	T	30931.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=17651;ExcessHet=13.8672;FS=1.743;InbreedingCoeff=-0.5209;MLEAC=2;MLEAF=0.053;MQ=55.64;MQRankSum=-11.53;QD=2.5;ReadPosRankSum=5.2;SOR=0.966	GT:AD:DP:GQ:PL	0/1:736,124:957:99:2991,0,30531	17	0	2	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3903.83	1158	chr7	100953580	.	T	G	3903.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.191;DP=17639;ExcessHet=0.119;FS=3.1;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.75;MQRankSum=1.28;QD=1.95;ReadPosRankSum=4.65;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:878,104:982:99:0|1:100953515_C_T:1724,0,36554:100953515	17	0	2	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	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	0.015625	0.005435	0.000000	0.000000	0.083333	0.045455	0.023810	0.048780	0.07895	9769.79	60	chr7	101004493	.	C	G	9769.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=1864;ExcessHet=0.3672;FS=0.533;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.01;MQRankSum=1.68;QD=12.97;ReadPosRankSum=-0.725;SOR=0.659	GT:AD:DP:GQ:PL	0/1:113,139:252:99:3698,0,2711	16	0	3	0
chr7	101006477	101006477	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon3:c.G14963T:p.C4988F	.	423	1086	13	0	0	13	0.00594966	.	.	.	2826021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.531	0.618071323826	.	0.00119808	0.0043	0	0	0	0	0.0007	0.0045	0.0098	0.0006209	96	154602	rs555137488	0.0008	0.0008	0.0006	0.0011	0.0094	0.0008	0.0008	0.0088	0.0086	3.166e-05	0.0004	0.0004	0	2.858e-05	0.0061	0.0003	0.0010	0.0094	0.0005	0.0005	0.0004	0.0006	0.0075	0.0004	0.0004	0.0055	0.0049	0.0001	0	0.0005	0.0017	0	9.418e-05	0	0.0003	0.0009	0.0075	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003841	0.34414	U	0.000000	1	0.08975	N	1.87	0.49600	L	-5.93	0.99452	D	-7.14	0.94758	D	0.616	0.75742	0.902	0.95695	D	0.930	0.97676	D	8	0.027742267	0.00915	T	0.618071	0.96685	D	0.531	0.80247	.	.	0.582828786496	0.57955	0.4040606043396441	0.40322	.	.	0.411843717098	0.26711	T	0.067262	0.33158	T	0.133226	0.67674	D	0.42627	0.92939	D	0.121136840750695	0.14540	T	0.269973	0.04523	T	0.81543064	0.84914	0.725981	0.83814	0.81543064	0.84915	0.725981	0.83815	-9.377	0.70091	D	.	.	0.935	0.85467	P	.;.	.;.	2.446749	0.31499	18.76	0.61464251856208296	0.06715	0.26942	0.23137	N	AEFBI	0.149320	0.27339	N	-0.340929966810357	0.27607	1.516022	-0.452273794028015	0.23484	1.280957	4.11484181190949E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	3.302000	0.51557	5.265000	0.48134	0.597000	0.34315	0.487000	0.26855	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	9.762	0.39704	818	0.41518	.;.	.	.	.	.	.	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	0.003432	0.000000	0.000000	0.000000	0.000000	0.000000	0.011494	0.000000	0.05263	3723.83	33	chr7	101006477	.	G	T	3723.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.881;DP=922;ExcessHet=0.119;FS=0.855;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.196;SOR=0.759	GT:AD:DP:GQ:PL	0/1:86,64:150:99:1515,0,2194	17	0	2	0
chr7	101038455	101038455	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A7039G:p.T2347A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00224218761591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	.	.	.	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.33	0.66821	M	4.37	0.02277	T	-0.84	0.22944	N	0.055	0.02658	-0.8975	0.48244	T	0.005	0.01761	T	9	0.057038784	0.06488	T	0.002242	0.04260	T	0.021	0.04004	0.174	0.08014	0.0297737177859	0.01360	0.0026299508486992145	0.00243	.	.	0.265688419342	0.05587	T	0.014997	0.12660	T	-0.334112	0.05806	T	-0.717705	0.04907	T	0.103206586207734	0.12705	T	0.288971	0.05229	T	0.053104475	0.10001	0.04780897	0.06966	0.053104475	0.10001	0.04780897	0.06965	-7.473	0.57420	T	.	.	0.119	0.24464	B	.	.	0.073673	0.04813	1.420	0.24931553543660159	0.01126	0.00334	0.01740	N	AEFBI	0.048146	0.08184	N	-1.29484975295129	0.03736	0.1674615	-1.40133152613554	0.03239	0.1506844	1.01368855965604E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	1.39	-0.857	0.10151	1.408000	0.34277	-2.748000	0.03402	0.542000	0.25261	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4424:0.0:0.5576:0.0	5.109	0.14136	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	9033.14	996	chr7	101038455	.	A	G	9033.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.064;DP=12732;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.79;MQRankSum=0.488;QD=12.09;ReadPosRankSum=0.142;SOR=0.67	GT:AD:DP:GQ:PL	0/1:384,363:747:99:9046,0,10070	16	0	1	2
chr7	102457510	102457510	G	A	exonic	ALKBH4	.	nonsynonymous SNV	ALKBH4:NM_017621:exon3:c.C793T:p.R265C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.400865406669	.	.	8.536e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777325120	5.476e-06	7.524e-06	5.449e-06	5.504e-06	2.519e-05	2.36e-06	1.7e-06	1.32e-06	9.6e-07	0	2.236e-05	0	2.519e-05	1.907e-05	0	4.497e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.054281	1	0.81001	D	3.955	0.96476	H	0.27	0.59176	T	-7.83	0.96005	D	0.837	0.83269	0.331	0.88048	D	0.525	0.82317	D	10	0.96069115	0.95475	D	0.400865	0.93394	D	0.549	0.81310	0.83	0.93978	0.792557392472	0.79062	0.9701312184035664	0.97002	1.04884532575	0.76074	0.68859821558	0.65505	T	0.571633	0.85826	D	0.0835755	0.62457	D	0.0514022	0.73676	D	0.999687433242798	0.98483	D	0.960404	0.85096	D	0.82049596	0.85253	0.6488762	0.79462	0.82049596	0.85254	0.6488762	0.79463	-15.751	0.97364	D	.	.	0.739	0.74604	P	.	.	5.297965	0.88949	29.8	0.99920198769631585	0.98721	0.89695	0.50325	D	AEFGBCI	0.719989	0.67070	D	0.843149620991791	0.88714	9.683562	0.737440206283289	0.85217	8.514809	0.999991148905701	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.08	5.08	0.68373	3.754000	0.54903	11.793000	0.96431	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.387000	0.26492	0.0:0.0:1.0:0.0	17.470	0.87538	534	0.73357	.	.	.	.	.	.	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	1378.33	33	chr7	102457510	.	G	A	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=749;ExcessHet=0;FS=2.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.46;SOR=0.446	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1392,0,1301	18	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,23:132:62:.:.:62,0,3984:.	10	0	8	1
chr7	107940269	107940269	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon25:c.C3481T:p.R1161C	Lissencephaly 5, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	428654	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.549	0.162162685987	7.7e-05	0.000199681	0.0005	9.615e-05	0.0002	0	0	0.0004	0.0011	0.0020	0.0004528	70	154602	rs146018013	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0015	2.987e-05	0.0001	0.0018	0	0	0.0026	8.903e-05	0.0005	0.0019	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	7.217e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	4.125	0.97446	H	-0.04	0.63240	T	-6.5	0.91609	D	0.688	0.69913	0.357	0.88449	D	0.567	0.84308	D	9	0.36260283	0.52851	T	0.162163	0.84179	D	0.549	0.81310	.	.	0.819438898917	0.81773	0.8339373263145492	0.83352	0.545644546842	0.51589	0.510067224503	0.40232	T	0.369082	0.73386	T	-0.0771195	0.40180	T	0.109183	0.77519	D	0.582041501998901	0.35697	D	0.973003	0.90263	D	0.53498566	0.69114	0.49559188	0.70829	0.4742811	0.65553	0.48983976	0.70484	-11.082	0.80106	D	.	.	0.283	0.54492	B	.;.	.;.	5.865314	0.93873	33	0.99944533827279425	0.99868	0.90911	0.52495	D	AEFBHCI	0.786360	0.71646	D	0.936951981882765	0.93450	12.04674	0.8533853885205	0.93212	11.89589	0.999999999992788	0.74766	0.730579	0.87903	0	0.546412	0.12157	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	5.313000	0.65584	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.034	0.71390	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	3674.83	34	chr7	107940269	.	G	A	3674.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.19;DP=888;ExcessHet=0.119;FS=2.622;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.83;SOR=0.553	GT:AD:DP:GQ:PL	0/1:69,85:154:99:2202,0,1812	17	0	2	0
chr7	110663666	110663666	C	T	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon6:c.G464A:p.R155H,IMMP2L:NM_001244606:exon7:c.G464A:p.R155H,IMMP2L:NM_001350960:exon7:c.G464A:p.R155H,IMMP2L:NM_001350959:exon8:c.G464A:p.R155H,IMMP2L:NM_001350961:exon8:c.G548A:p.R183H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0129341773962	.	0.000399361	0.0002	0	0	0	0	1.5e-05	0	0.0011	0.0001423	22	154602	rs536441357	8.643e-05	8.688e-05	5.598e-05	0.0001	0.0011	7.374e-05	6.922e-05	0.0009	0.0008	0	2.256e-05	0	5.064e-05	0	0.0002	1.983e-05	0.0001	0.0011	7.883e-05	7.875e-05	6.425e-05	9.406e-05	0.0015	4.495e-05	3.511e-05	0.0007	0.0005	2.408e-05	0	6.545e-05	0	0	0	0	4.41e-05	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.12	0.58754	M	.	.	.	-4.35	0.78976	D	0.296	0.71321	-0.2310	0.76861	T	0.432	0.77374	T	9	0.05882311	0.06975	T	0.012934	0.31926	T	0.569	0.82460	0.451	0.51285	0.604527667468	0.60136	0.7722794199078425	0.77177	0.702793909677	0.61229	0.521912515163	0.41895	T	0.561051	0.85306	D	0.0771713	0.61707	D	0.287634	0.87528	D	0.293434399252279	0.24733	T	0.953805	0.82399	D	0.7061095	0.78392	0.5856005	0.75968	0.7061095	0.78394	0.5856005	0.75969	-7.041	0.54332	T	.	.	0.911	0.84294	P	.;.;.;.	.;.;.;.	5.536701	0.91924	32	0.99918299205365524	0.98586	0.81062	0.40547	D	AEFI	0.572568	0.57609	D	0.693326663469311	0.79194	7.026713	0.675996653542634	0.80558	7.326048	0.736931907059772	0.23147	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.639000	0.54079	4.810000	0.45034	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.547	0.91001	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1155.33	33	chr7	110663666	.	C	T	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.048;DP=707;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.674;SOR=0.571	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1169,0,832	18	0	1	0
chr7	111123211	111123211	A	G	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.A439G:p.I147V,LRRN3:NM_001099658:exon3:c.A439G:p.I147V,LRRN3:NM_001099660:exon4:c.A439G:p.I147V	.	430	1088	3	1	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00652400570951	.	.	2.481e-05	0	8.734e-05	0	0	1.502e-05	0	6.06e-05	3.23e-05	5	154602	rs746153863	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	2.239e-05	0	0	0	0.0009	1.619e-05	8.28e-05	3.478e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.136	0.27080	T	0.228	0.25286	T	0.0	0.02946	B	0.002	0.06944	B	0.021183	0.26883	N	0.314197	1	0.81001	D	0.31	0.10265	N	0.24	0.59583	T	-0.74	0.22944	N	0.09	0.07535	-0.9434	0.42073	T	0.128	0.43544	T	10	0.18544719	0.33966	T	0.006524	0.17186	T	0.060	0.17295	0.583	0.70990	0.322284741503	0.31843	0.44654892781066746	0.44572	0.191278487221	0.21457	0.359099060297	0.19254	T	0.016219	0.13452	T	-0.267144	0.12078	T	-0.524656	0.19824	T	0.0229466981281474	0.01017	T	0.762924	0.38892	T	0.044195365	0.07024	0.06406835	0.12785	0.044195365	0.07023	0.06406835	0.12785	-4.607	0.32260	T	.	.	0.067	0.04041	B	.;.;.;.	.;.;.;.	1.171721	0.15615	11.98	0.91605044954627712	0.20888	0.78091	0.38477	D	AEBI	0.162414	0.28859	N	-0.518018075605807	0.21496	1.141287	-0.370479741456749	0.25882	1.426095	8.50683645231582E-5	0.04703	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	6.16	1.3	0.20778	1.237000	0.32298	1.577000	0.27452	-0.050000	0.17177	0.945000	0.32849	0.228000	0.23763	0.996000	0.76049	0.6624:0.0:0.3376:0.0	9.766	0.39726	628	0.65206	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2029.33	36	chr7	111123211	.	A	G	2029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.287;DP=782;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.201;SOR=0.632	GT:AD:DP:GQ:PL	0/1:63,81:144:99:2043,0,1534	18	0	1	0
chr7	123596421	123596421	C	T	exonic	NDUFA5	.	nonsynonymous SNV	NDUFA5:NM_001291304:exon2:c.G16A:p.V6I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs185248872	0	0.0002	0	0	.	0	0	.	.	0	.	.	.	.	0	0	.	.	0.0033	0.0033	0.0036	0.0031	0.0052	0.0031	0.0030	0.0047	0.0045	0.0009	0	0.0034	0.0113	0	0.0018	0	0.0052	0.0028	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	210.33	39	chr7	123596421	.	C	T	210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.294;DP=556;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=2.59;SOR=0.399	GT:AD:DP:GQ:PL	0/1:5,9:14:99:224,0,126	18	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,21:203:99:0|1:128479325_T_C:305,0,7559:128479325	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,21:203:99:0|1:128479325_T_C:305,0,7559:128479325	3	0	9	7
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|1:72,15:87:99:0|1:143478290_A_G:151,0,2434:143478290	9	0	9	1
chr7	149252726	149252726	G	A	exonic	ZNF212	.	nonsynonymous SNV	ZNF212:NM_012256:exon4:c.G562A:p.G188R	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00229434534071	0.0022	0.000798722	0.0018	0.0009	0.0011	0	0.0021	0.0026	0.0011	0.0006	0.0017852	276	154602	rs141430858	0.0023	0.0023	0.0024	0.0022	0.0040	0.0022	0.0022	0.0027	0.0025	0.0005	0.0014	3.827e-05	2.519e-05	0.0023	0.0040	0.0026	0.0019	0.0006	0.0018	0.0018	0.0019	0.0018	0.0041	0.0016	0.0016	0.0032	0.0030	0.0007	0	0.0041	0	0	0.0014	0	0.0024	0.0014	0.0004	0.635	0.05076	T	0.241	0.24334	T	0.808	0.45299	P	0.216	0.37572	B	0.783486	0.09453	N	0.890661	0.924148	0.27222	N	0.775	0.19437	N	3.27	0.06602	T	0.48	0.03041	N	0.364	0.40565	-1.0725	0.08873	T	0.017	0.07187	T	10	0.0066052377	0.00150	T	0.002294	0.04397	T	0.128	0.35103	0.294	0.25720	0.260249123532	0.25628	0.22909172068056563	0.22824	0.624697044921	0.56669	0.434802174568	0.29866	T	0.005819	0.05268	T	-0.579026	0.00195	T	-0.605663	0.12340	T	0.019224121630004	0.00628	T	0.691931	0.30130	T	0.078681916	0.17931	0.080437385	0.18195	0.078681916	0.17931	0.080437385	0.18195	-4.888	0.35600	T	.	.	0.278	0.51174	B	.	.	3.446654	0.47969	22.5	0.99909460906672376	0.97949	0.88202	0.48025	D	AEFGBI	0.219113	0.34404	N	0.0868613322850342	0.45851	2.834761	0.198294092405926	0.49755	3.174861	0.984104751341964	0.30665	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	1.301000	0.33052	11.451000	0.92797	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.284	0.65783	929	0.16858	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.010101	0.009511	0.005848	0.000000	0.008621	0.006135	0.000000	0.02632	1122.33	33	chr7	149252726	.	G	A	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.061;DP=721;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.285;SOR=0.575	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1136,0,1455	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	0/1:265,68:333:99:715,0,9371	1	0	18	0
chr7	154969059	154969059	T	C	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon7:c.A1142G:p.H381R	.	419	1094	7	2	0	11	0.00500227	.	.	.	2678938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00759713319504	.	.	0.0001	0	0	0	0	0	0	0.0007	4.53e-05	7	154602	rs772247568	4.74e-05	5.336e-05	3.573e-05	5.955e-05	0.0010	3.81e-05	3.472e-05	0.0004	0.0003	0	5.955e-05	0	0	0	0.0010	1.507e-05	0.0001	0.0005	2.626e-05	2.625e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.112	0.28900	T	0.142	0.33330	T	0.907	0.50062	P	0.276	0.40142	B	0.000859	0.41440	U	0.100459	0.672558	0.33156	D	2.095	0.58118	M	1.03	0.40469	T	-2.97	0.61865	D	0.493	0.53006	-0.8607	0.51213	T	0.133	0.44544	T	10	0.17956463	0.33097	T	0.007597	0.20166	T	0.054	0.15330	0.216	0.13643	0.472611402724	0.46890	0.17942214701278858	0.17861	0.211083843637	0.23619	0.479331880808	0.35965	T	0.427868	0.77720	T	-0.385794	0.02862	T	-0.434458	0.29431	T	0.122719976915623	0.14694	T	0.50295	0.15803	T	0.11902484	0.28033	0.13993303	0.33371	0.11902484	0.28033	0.13993303	0.33370	-3.624	0.18204	T	.	.	0.169	0.37140	B	.;.	.;.	2.574727	0.33367	19.32	0.9173956141637164	0.21037	0.92265	0.55315	D	AEFBI	0.240441	0.36223	N	0.0352313648512142	0.43463	2.638797	0.0701974879351378	0.43058	2.615523	0.731593152916455	0.23054	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	4.2	0.48814	3.040000	0.49489	4.136000	0.42059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.1398:0.8602	12.486	0.55218	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	0.001017	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.003876	0.02632	941.33	42	chr7	154969059	.	T	C	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.044;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.09;SOR=0.748	GT:AD:DP:GQ:PL	0/1:44,40:84:99:955,0,1075	18	0	1	0
chr8	245338	245338	G	A	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon6:c.G491A:p.C164Y,ZNF596:NM_001042416:exon6:c.G491A:p.C164Y,ZNF596:NM_001287254:exon6:c.G491A:p.C164Y,ZNF596:NM_001287255:exon6:c.G491A:p.C164Y,ZNF596:NM_001287256:exon6:c.G491A:p.C164Y,ZNF596:NM_001287399:exon6:c.G92A:p.C31Y,ZNF596:NM_173539:exon6:c.G491A:p.C164Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00279553	0.0042	0.0006	0.0018	0	0.0154	0.0056	0.0088	0	0.0040362	624	154602	rs111707578	0.0041	0.0041	0.0041	0.0041	0.0043	0.0040	0.0040	0.0042	0.0042	0.0004	0.0019	7.654e-05	0	0.0176	0.0002	0.0043	0.0032	8.117e-05	0.0036	0.0036	0.0031	0.0042	0.0041	0.0034	0.0033	0.0037	0.0036	0.0006	0	0.0024	0	0	0.0188	0.0034	0.0041	0.0057	0	0.022	0.48642	D	0.011	0.64786	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.998421	0.22162	N	0.48	0.13178	N	2.49	0.14531	T	0.71	0.02130	N	0.069	0.04307	-1.0269	0.21462	T	0.020	0.08500	T	9	0.005536288	0.00122	T	.	.	.	0.080	0.23350	.	.	0.202949470691	0.19918	0.019458306444240958	0.01899	0.00140046893544	0.00121	0.243098884821	0.03076	T	0.004502	0.03907	T	-0.665764	0.00058	T	-0.727181	0.04456	T	0.00737238737397321	0.00085	T	9.999E-4	0.00002	T	0.08921573	0.20838	0.09712342	0.23105	0.08921573	0.20837	0.09712342	0.23104	-1.325	0.01442	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	0.214527	0.05978	2.417	0.39601582863277635	0.02743	0.00006	0.00120	N	AEFGBCI	0.035922	0.04705	N	-1.21695646062496	0.04754	0.2152144	-1.22197566465868	0.05558	0.2651705	0.00230135884248876	0.09310	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.421255	0.06892	1	.	.	2.33	-1.84	0.07387	0.725000	0.25638	-0.738000	0.07632	-0.793000	0.03229	0.667000	0.28322	0.000000	0.08366	0.023000	0.12082	0.5069:0.0:0.3025:0.1906	3.486	0.07182	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2513.33	34	chr8	245338	.	G	A	2513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=1040;ExcessHet=0;FS=2.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.39;SOR=0.872	GT:AD:DP:GQ:PL	0/1:124,97:221:99:2527,0,3381	18	0	1	0
chr8	2096363	2096363	G	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon18:c.G2242T:p.D748Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.132350197372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.002	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	N	0.049106	0.99997	0.53665	D	.	.	.	0.39	0.57419	T	-7.36	0.94647	D	0.95	0.95841	-0.3842	0.72521	T	0.317	0.68646	T	10	0.9013664	0.89498	D	0.13235	0.81467	D	0.541	0.80842	0.572	0.69564	0.685150128463	0.68245	0.7190752072822993	0.71850	0.0441881395344	0.04759	0.553834795952	0.46398	T	.	.	.	0.117687	0.66139	D	-0.0687279	0.65716	T	0.998741328716278	0.95037	D	0.962304	0.85835	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.63438	A	.;.	.;.	4.420170	0.68456	25.2	0.99128986918957851	0.53195	0.98942	0.88948	D	AEFDBI	0.907795	0.86226	D	0.570356031293529	0.71330	5.634515	0.487220624654096	0.67140	5.044611	0.999913157296307	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.46	4.57	0.55860	9.164000	0.93909	9.525000	0.80939	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.199000	0.21867	0.0:0.0:0.8609:0.1391	15.561	0.75984	929	0.16858	.;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	.	.	.	.	.	.	.	.	0.02632	1431.33	35	chr8	2096363	.	G	T	1431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=778;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.6;SOR=0.899	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1445,0,1372	18	0	1	0
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	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	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,108:280:99:0|1:10609943_C_T:1489,0,4536:10609943	6	0	10	3
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	0/1:61,20:81:99:.:.:101,0,1186:.	7	0	11	1
chr8	38401015	38401017	CTC	-	exonic	LETM2	.	nonframeshift deletion	LETM2:NM_001330515:exon5:c.802_804del:p.L269del,LETM2:NM_144652:exon5:c.661_663del:p.L222del,LETM2:NM_001199659:exon6:c.805_807del:p.L270del,LETM2:NM_001199660:exon6:c.337_339del:p.L114del,LETM2:NM_001286787:exon6:c.337_339del:p.L114del,LETM2:NM_001286819:exon6:c.946_948del:p.L317del,LETM2:NM_001363204:exon6:c.403_405del:p.L136del,LETM2:NM_001363205:exon6:c.337_339del:p.L114del	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000798722	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0043	0.0006145	95	154602	rs564083633	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	5.974e-05	8.944e-05	0	0	0	0.0019	0.0001	0.0006	0.0041	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0003	0	0	0	0.0034	0.0001	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1182.29	35	chr8	38401014	.	GCTC	G	1182.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=712;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.06;SOR=0.594	GT:AD:DP:GQ:PL	0/1:60,33:93:99:1196,0,2399	18	0	1	0
chr8	38976717	38976717	C	A	exonic	HTRA4	.	nonsynonymous SNV	HTRA4:NM_153692:exon3:c.C749A:p.A250E	.	432	1088	1	0	1	2	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	0.181307999071	.	.	3.306e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs372971012	2.121e-05	2.121e-05	8.167e-06	3.438e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	4.496e-06	0	0.0003	4.6e-05	4.594e-05	2.572e-05	6.721e-05	0.0002	2.11e-05	1.527e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.52	0.99038	H	-3.96	0.96208	D	-4.69	0.79743	D	0.964	0.97426	1.056	0.98243	D	0.964	0.98859	D	10	0.989511	0.99418	D	0.181308	0.85547	D	0.920	0.97965	0.911	0.98230	0.976296881218	0.97604	0.9423047363021793	0.94211	0.574919805855	0.53506	0.528207182884	0.42782	T	0.831287	0.95974	D	0.325706	0.84871	D	0.530401	0.95238	D	0.997490525245667	0.91692	D	0.846715	0.52677	T	0.8773921	0.89454	0.82204217	0.89670	0.8773921	0.89455	0.82204217	0.89670	-16.136	0.97958	D	.	.	0.979	0.91004	P	.	.	5.732578	0.93286	33	0.99473668723604514	0.66472	0.98124	0.79803	D	AEFDBIJ	0.795792	0.72311	D	0.927755958424443	0.93053	11.79123	0.776454396005106	0.88113	9.46196	0.999999999947978	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.38	4.49	0.54177	6.080000	0.70936	5.973000	0.52033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.285000	0.24139	0.0:0.9175:0.0:0.0825	12.430	0.54907	647	0.63344	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	779.33	33	chr8	38976717	.	C	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.05;DP=657;ExcessHet=0;FS=4.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-1.72;SOR=0.25	GT:AD:DP:GQ:PL	0/1:16,29:45:99:793,0,372	18	0	1	0
chr8	41937279	41937281	TCT	-	exonic	KAT6A	.	nonframeshift deletion	KAT6A:NM_006766:exon16:c.3327_3329del:p.E1109del	Mental retardation, autosomal dominant 32, Autosomal dominant	431	1084	7	0	0	7	0.00321839	.	.	.	579610	KAT6A-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	0.00698882	0.0063	9.626e-05	0.0004	0.0402	0.0319	0.0025	0.0089	0.0014	0.0005379	14	26028	rs201760077	0.0027	0.0027	0.0027	0.0027	0.0427	0.0026	0.0026	0.0410	0.0403	5.981e-05	0.0001	3.829e-05	0.0427	0.0285	0.0007	0.0003	0.0034	0.0017	0.0040	0.0040	0.0025	0.0055	0.0403	0.0037	0.0036	0.0358	0.0341	7.22e-05	0	0.0003	0	0.0403	0.0308	0	0.0007	0.0024	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.007576	0.02632	1234.29	43	chr8	41937278	.	ATCT	A	1234.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=802;ExcessHet=0;FS=2.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.57;ReadPosRankSum=1.14;SOR=0.368	GT:AD:DP:GQ:PL	0/1:28,32:60:99:1248,0,1079	18	0	1	0
chr8	42856374	42856374	T	C	exonic	RNF170	.	nonsynonymous SNV	RNF170:NM_001160223:exon7:c.A562G:p.M188V,RNF170:NM_001160225:exon7:c.A310G:p.M104V,RNF170:NM_030954:exon7:c.A562G:p.M188V	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	.	0.0004	0.00319489	0.0084	0	0.0002	0.0150	0.0731	0.0057	0.0188	0.0002	0.0067334	1041	154602	rs147488061	0.0033	0.0033	0.0033	0.0033	0.0105	0.0032	0.0032	0.0097	0.0094	6.163e-05	0.0002	0	0.0105	0.0605	0.0004	0.0008	0.0038	0.0003	0.0065	0.0066	0.0034	0.0098	0.0129	0.0062	0.0061	0.0104	0.0095	4.812e-05	0	0.0004	0	0.0129	0.0730	0	0.0020	0.0033	0.0004	0.363	0.11807	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.033184	0.999579	0.81001	D	1.72	0.44442	L	-1.58	0.85943	D	-0.87	0.24026	N	0.128	0.22357	-0.8191	0.53990	T	0.265	0.63620	T	10	0.0036062598	0.00065	T	.	.	.	0.270	0.58507	.	.	0.279809986126	0.27602	0.9266416581008537	0.92642	0.348132503314	0.36690	0.704056560993	0.67731	T	0.009837	0.08928	T	-0.321687	0.06761	T	-0.220577	0.52681	T	0.0232920394105379	0.01058	T	0.784022	0.45571	T	0.14268735	0.32826	0.16775966	0.38685	0.13703619	0.31744	0.16775966	0.38684	-6.76	0.52261	T	0.11226471401842072	0.09693	0.213	0.45061	B	.;.;.	.;.;.	2.366926	0.30367	18.41	0.81531964374141641	0.13732	0.90964	0.52596	D	AEFBI	0.341566	0.43801	N	-0.418070444047912	0.24835	1.343863	-0.227477066028421	0.30555	1.721442	0.993419501311954	0.33206	0.50712	0.20391	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	6.08	2.41	0.28644	3.836000	0.55516	4.988000	0.46508	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.192:0.0:0.808	9.917	0.40610	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	26	chr8	42856374	.	T	C	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=642;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=1.13;SOR=0.795	GT:AD:DP:GQ:PL	0/1:17,24:41:99:639,0,407	18	0	1	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|1:33,5:38:20:0|1:66493691_G_C:20,0,1064:66493691	8	0	10	1
chr8	66493692	66493692	T	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.T44C:p.V15A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00390689999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.535e-05	2.741e-06	0	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.157	0.92824	T	0.998	0.90584	D	0.99	0.84481	D	0.000007	0.62929	D	0.000000	0.998847	0.45546	D	.	.	.	.	.	.	-2.64	0.66325	D	0.744	0.88246	-0.6284	0.63639	T	0.286	0.65773	T	9	0.5246484	0.62839	D	0.003907	0.09211	T	0.217	0.51112	0.36	0.36385	0.451585352066	0.44779	0.5005733432488454	0.49978	1.46053770345	0.86340	.	.	.	0.114249	0.49518	T	0.205547	0.74412	D	0.0574777	0.74077	D	0.892442107348041	0.54353	D	0.734227	0.36032	T	0.57360226	0.71258	0.56530106	0.74840	0.57360226	0.71259	0.56530106	0.74841	-3.33	0.15245	T	.	.	0.980	0.92305	P	.;.;.;.	.;.;.;.	3.949088	0.57843	23.9	0.99880771886591968	0.95733	0.97771	0.77014	D	AEFGBHI	0.663003	0.63267	D	0.602656974322728	0.73343	5.950544	0.643093491109605	0.78099	6.808267	0.999999995810959	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	5.120000	0.64523	7.788000	0.68824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.049	0.71519	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	.	.	.	.	.	.	.	.	0.05263	70.83	35	chr8	66493692	.	T	C	70.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.271;DP=811;ExcessHet=0.119;FS=54.476;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=59.45;MQRankSum=-1.204;QD=0.71;ReadPosRankSum=1.14;SOR=6.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5:38:20:0|1:66493691_G_C:20,0,1064:66493691	17	0	2	0
chr8	86064245	86064245	T	C	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A572G:p.Y191C	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.056480731205	0.0002	0.000199681	0.0003	0	0	0.0001	0	5.997e-05	0	0.0018	0.0002329	36	154602	rs368729222	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	0	2.236e-05	0	2.519e-05	0	0.0007	5.126e-05	0.0002	0.0023	0.0001	0.0001	7.711e-05	0.0002	0.0027	7.573e-05	6.278e-05	0.0016	0.0013	0	0	6.541e-05	0	0.0002	0	0	4.41e-05	0	0.0027	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	.	.	.	.	0.780154	0.34256	D	1.02	0.25474	L	-0.14	0.65006	T	-8.41	0.97155	D	0.825	0.82057	-0.6398	0.63154	T	0.216	0.57771	T	9	0.25533473	0.42925	T	0.056481	0.66621	D	0.490	0.77720	.	.	0.78808986659	0.78612	0.3704986516367026	0.36963	0.203621729601	0.22778	0.455802619457	0.32736	T	0.035279	0.23656	T	-0.136866	0.30390	T	0.0244577	0.71919	D	0.335279413679285	0.26436	T	0.887811	0.61653	D	0.5924301	0.72283	0.61264354	0.77461	0.5924301	0.72284	0.61264354	0.77462	-9.096	0.68311	D	.	.	0.127	0.27100	B	.	.	3.430010	0.47670	22.5	0.99778780317387783	0.86606	0.91979	0.54678	D	AEFBI	0.446172	0.50234	N	0.219688213524021	0.52154	3.391424	0.206035714241199	0.50182	3.212961	0.999610258303695	0.40981	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.542086	0.14980	0	.	.	5.1	2.51	0.29435	2.874000	0.48181	-1.112000	0.06295	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.997000	0.79791	0.1537:0.094:0.0:0.7523	5.265	0.14909	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2175.33	42	chr8	86064245	.	T	C	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=932;ExcessHet=0;FS=3.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.073;SOR=0.984	GT:AD:DP:GQ:PL	0/1:52,76:128:99:2189,0,1296	18	0	1	0
chr8	86069622	86069622	T	C	exonic	PSKH2	.	startloss	PSKH2:NM_033126:exon1:c.A1G:p.M1?	.	453	1057	12	0	0	12	0.0056444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0004	0.000599042	0.0009	0	0	0	0	0.0002	0.0026	0.0043	0.0004398	68	154602	rs200752513	0.0005	0.0005	0.0004	0.0006	0.0043	0.0005	0.0005	0.0039	0.0037	6.61e-05	8.225e-05	0	2.706e-05	0	0.0010	0.0003	0.0005	0.0043	0.0004	0.0004	0.0003	0.0004	0.0051	0.0003	0.0003	0.0035	0.0030	4.822e-05	0	0.0001	0	0	0	0	0.0004	0.0005	0.0051	0.0	0.91255	D	0.0	0.92824	D	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.81001	D	.	.	.	-0.28	0.67543	T	-1.47	0.35991	N	0.673	0.68082	-0.8258	0.53569	T	0.191	0.54345	T	8	0.046052784	0.03750	T	0.302571	0.90930	D	0.323	0.64522	.	.	0.696333785881	0.69371	0.5229432595096636	0.52217	.	.	.	.	.	0.015715	0.13127	T	-0.196774	0.21271	T	-0.0572186	0.66525	T	0.270062162475047	0.23750	T	0.9	0.65058	D	0.9411315	0.95363	0.88732743	0.94078	0.9411315	0.95363	0.88732743	0.94078	-13.35	0.90754	D	.	.	.	.	.	.	.	1.382347	0.17940	13.46	0.94825287291408156	0.25599	0.70718	0.34707	D	AEFDBI	0.014718	0.00246	N	-0.405368891582014	0.25280	1.371164	-0.376205552053252	0.25709	1.415443	0.999710795678471	0.42101	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.59	3.41	0.38145	0.687000	0.25088	1.053000	0.23654	0.609000	0.47794	0.674000	0.28384	0.981000	0.30433	0.128000	0.19490	0.0:0.0:0.2045:0.7955	8.139	0.30229	487	0.76954	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003093	0.000000	0.001370	0.000000	0.000000	0.008621	0.006369	0.015504	0.02632	214.49	9	chr8	86069622	.	T	C	214.49	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=337;ExcessHet=0;FS=0;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.33;SOR=0.399	GT:AD:DP:GQ:PL	0/1:11,8:19:99:228,0,271	18	0	1	0
chr8	97143114	97143116	TGC	-	exonic	CPQ	.	nonframeshift deletion	CPQ:NM_016134:exon8:c.1350_1352del:p.A453del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204022590	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.993e-07	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1503.29	37	chr8	97143113	.	TTGC	T	1503.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=730;ExcessHet=0;FS=1.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.175;SOR=0.898	GT:AD:DP:GQ:PL	0/1:52,40:92:99:1517,0,2002	18	0	1	0
chr8	100177928	100177928	T	C	exonic	SPAG1	.	nonsynonymous SNV	SPAG1:NM_001374321:exon4:c.T413C:p.L138P,SPAG1:NM_003114:exon4:c.T413C:p.L138P,SPAG1:NM_172218:exon4:c.T413C:p.L138P	Ciliary dyskinesia, primary, 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	523422	Primary_ciliary_dyskinesia_28|SPAG1-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0014216,MedGen:C3809706,OMIM:615505,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.00648168549014	0.0011	0.000399361	0.0003	0.0034	0.0002	0	0	3e-05	0	0	0.0002717	42	154602	rs141605537	0.0001	0.0001	0.0001	0.0001	0.0028	0.0001	9.578e-05	0.0024	0.0022	0.0028	0.0002	0	0	0	0.0003	4.321e-05	0.0003	1.161e-05	0.0008	0.0009	0.0009	0.0008	0.0028	0.0007	0.0007	0.0024	0.0022	0.0028	0	0.0005	0	0	0	0	4.409e-05	0.0014	0	0.219	0.23360	T	0.208	0.28482	T	0.005	0.12996	B	0.006	0.12133	B	0.866255	0.08858	N	0.932415	0.992872	0.23810	N	1.575	0.39704	L	2.66	0.12575	T	-3.15	0.65056	D	0.137	0.13626	-0.9749	0.36148	T	0.027	0.11397	T	10	0.005811155	0.00130	T	0.006482	0.17072	T	0.028	0.06331	.	.	0.356281029322	0.35234	0.3174705843129795	0.31660	0.249414558218	0.27514	0.364760518074	0.20077	T	0.045214	0.27053	T	-0.56485	0.00237	T	-0.58625	0.13992	T	0.0169248882375179	0.00443	T	0.467953	0.13790	T	0.17669392	0.38595	0.31107286	0.57115	0.25559536	0.48594	0.2549496	0.51168	-6.663	0.52433	T	0.12230266926588025	0.11704	0.062	0.01470	B	.;.;.;.	.;.;.;.	2.044059	0.25985	16.96	0.92630292446781171	0.22101	0.42962	0.26993	N	AEFDI	0.135493	0.25585	N	-0.509890703039719	0.21759	1.157115	-0.451352085693648	0.23510	1.282488	0.0027513706255332	0.09683	0.638212	0.43195	0	0.633656	0.55848	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	4.47	3.0	0.33773	2.320000	0.43456	1.329000	0.25656	0.609000	0.47794	0.946000	0.32893	0.326000	0.24349	0.834000	0.39329	0.0:0.176:0.0:0.824	5.477	0.15996	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	1	0	0	0	0	0	0	0.001036	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	860.33	34	chr8	100177928	.	T	C	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.076;DP=702;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.827;SOR=0.584	GT:AD:DP:GQ:PL	0/1:36,40:76:99:874,0,894	18	0	1	0
chr8	100715564	100715564	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G541A:p.A181T	.	439	1020	63	0	0	63	0.0299572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0340158553091	.	.	0.0025	0.0035	0.0022	0.0022	0.0029	0.0026	0.0045	0.0017	3.84e-05	1	26028	rs201575415	0.0002	0.0051	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0.0002	0.0003	0.0001	2.551e-05	0.0002	0.0002	0.0002	0.0002	0.0012	1.316e-05	0.0003	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.064	0.36912	T	0.235	0.24987	T	0.935	0.52277	P	0.543	0.52749	P	0.000007	0.62929	D	0.000000	0.999998	0.58761	D	1.86	0.49225	L	-2.01	0.85468	D	-1.72	0.40850	N	0.516	0.58968	-0.4866	0.69129	T	0.348	0.71289	T	10	0.04839903	0.04285	T	0.034016	0.55387	D	0.169	0.43123	.	.	0.771171459251	0.76907	0.7074090065815354	0.70682	1.20548367747	0.80694	0.786288261414	0.79878	T	0.135364	0.46714	T	0.117018	0.66071	D	-0.0696881	0.65648	T	0.141958981752396	0.16443	T	0.819218	0.48387	T	0.4579477	0.64543	0.32566392	0.58480	0.4579477	0.64544	0.32566392	0.58479	-8.102	0.61764	D	.	.	0.410	0.65091	A	.;.;.;.	.;.;.;.	4.555899	0.71747	25.7	0.99762505917770328	0.85172	0.97559	0.75543	D	AEFDBCI	0.789396	0.71860	D	0.434520686034361	0.63332	4.564763	0.497820100196361	0.67844	5.138917	0.99999999998101	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	6.081000	0.70951	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.025253	0.008152	0.035088	0.000000	0.017241	0.033537	0.007576	0.02632	46.33	34	chr8	100715564	.	C	T	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=732;ExcessHet=0;FS=1.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.62;MQRankSum=-10.32;QD=0.43;ReadPosRankSum=-2.268;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,9:108:60:0|1:100715564_C_T:60,0,4054:100715564	18	0	1	0
chr8	125431108	125431108	C	T	exonic	TRIB1	.	nonsynonymous SNV	TRIB1:NM_025195:exon1:c.C206T:p.P69L	.	419	1101	2	0	0	2	0.000907441	.	.	.	2334600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.132602931267	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1001989436	2.624e-05	2.805e-05	1.479e-05	3.841e-05	0.0015	1.881e-05	1.638e-05	0.0006	0.0004	0	0	0	0	0	0.0015	1.731e-05	0.0002	2.284e-05	6.58e-06	6.569e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.095	0.31235	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.005318	0.32910	U	0.000000	0.999857	0.49910	D	1.28	0.32218	L	0.89	0.45636	T	-0.85	0.23156	N	0.185	0.20129	-1.0862	0.06191	T	0.062	0.25672	T	10	0.11716354	0.22119	T	0.132603	0.81494	D	0.046	0.12618	0.174	0.08014	0.252829632966	0.24901	0.5435856821232665	0.54284	0.491739428019	0.47854	0.89686357975	0.96084	D	0.162988	0.50787	T	-0.0820545	0.39380	T	-0.355642	0.38558	T	0.584045886993408	0.35774	D	0.572443	0.20452	T	0.06930915	0.15172	0.118595004	0.28626	0.06930915	0.15172	0.118595004	0.28625	-4.968	0.36490	T	.	.	0.098	0.16231	B	.	.	3.815286	0.55062	23.6	0.99622639413886616	0.75533	0.53435	0.29371	D	AEFDGBHCI	0.325906	0.42734	N	-0.406262765354314	0.25249	1.369253	-0.289478781316371	0.28444	1.586019	0.999999999982276	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	3.15	2.26	0.27418	0.900000	0.28062	7.361000	0.58346	0.503000	0.22915	0.988000	0.36536	1.000000	0.68203	0.865000	0.41091	0.0:0.8759:0.0:0.1241	8.204	0.30601	846	0.36215	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	.	.	.	.	.	.	.	.	0.02632	230.33	37	chr8	125431108	.	C	T	230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=651;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-1.319;SOR=0.731	GT:AD:DP:GQ:PL	0/1:22,11:33:99:244,0,514	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:111,34:157:22:22,0,1846	4	0	12	3
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H,PHF20L1:NM_001362971:exon6:c.G616C:p.D206H,PHF20L1:NM_198513:exon6:c.G616C:p.D206H,PHF20L1:NM_016018:exon7:c.G694C:p.D232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	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	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	205.76	51	chr8	132804005	.	G	C	205.76	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.755;DP=1004;ExcessHet=0.7564;FS=127.828;InbreedingCoeff=-0.2588;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.111;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,12:47:52:.:.:52,0,663:.	9	0	4	6
chr8	134637595	134637595	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001167583:exon3:c.C278T:p.P93L,ZFAT:NM_001174157:exon3:c.C314T:p.P105L,ZFAT:NM_001174158:exon3:c.C278T:p.P93L,ZFAT:NM_020863:exon3:c.C314T:p.P105L,ZFAT:NM_001029939:exon4:c.C278T:p.P93L,ZFAT:NM_001289394:exon4:c.C278T:p.P93L	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0137744748591	0.0026	0.000399361	0.0032	0.0004	0.0012	0.0010	0.0008	0.0046	0.0033	0.0027	0.0030595	473	154602	rs146684203	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0036	0.0035	0.0006	0.0009	0.0096	0.0005	0.0020	0.0040	0.0037	0.0031	0.0030	0.0024	0.0024	0.0027	0.0022	0.0041	0.0022	0.0021	0.0037	0.0035	0.0006	0	0.0005	0.0092	0.0004	0.0013	0.0034	0.0041	0.0024	0.0015	0.149	0.25873	T	0.17	0.57104	T	0.004	0.12183	B	0.001	0.04355	B	0.642362	0.10587	N	0.833922	1	0.08975	N	1.7	0.43825	L	3.15	0.40749	T	-1.14	0.85247	N	0.108	0.11769	-1.0261	0.21723	T	0.067	0.27399	T	10	0.003590554	0.00065	T	0.013774	0.33422	T	0.047	0.12962	.	.	0.107399877778	0.10242	0.1345104382100156	0.13375	0.258302563221	0.28385	0.262367069721	0.05175	T	0.020214	0.44156	T	-0.559637	0.00255	T	-0.572931	0.15182	T	0.00435093853817475	0.00046	T	0.731327	0.36245	T	0.02190634	0.00819	0.032731384	0.02054	0.02190634	0.00819	0.032731384	0.02053	-3.617	0.21719	T	.	.	0.066	0.03552	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.908816	0.12830	9.345	0.66891786308827916	0.08192	0.11759	0.16843	N	AEFDGBI	0.068430	0.13498	N	-1.06053826346925	0.07382	0.3427704	-1.03567667578617	0.09008	0.4458205	0.999959064877607	0.48110	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.15	2.36	0.28258	1.983000	0.40270	0.767000	0.21364	-0.127000	0.13314	0.020000	0.19661	0.000000	0.08366	0.007000	0.07825	0.2241:0.0:0.7759:0.0	10.091	0.41620	980	0.04108	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1283.33	33	chr8	134637595	.	G	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.699;SOR=0.735	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1297,0,1066	18	0	1	0
chr8	141478754	141478754	G	T	exonic	MROH5	.	unknown	UNKNOWN	.	432	1085	5	0	0	5	0.00229885	.	.	.	2685481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0007	0.0005	0	0	0.0011	0.0005	0.0037	0.0017	0.0004463	69	154602	rs183010398	0.0010	0.0010	0.0010	0.0009	0.0014	0.0009	0.0009	0.0012	0.0011	0.0002	0	0	0	0.0009	0	0.0011	0.0006	0.0014	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0.0002	0	0	0	0.0002	0.0012	0	0.0007	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.014357865	0.00302	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	.	.	.	.	0.432042717934	0.29487	T	.	.	.	-0.512327	0.00487	T	-0.549232	0.17399	T	.	.	.	0.381762	0.09261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40489	B	.	.	2.380378	0.30556	18.47	0.99184275873329519	0.54789	0.46569	0.27789	N	AEFDGBI	0.066270	0.12970	N	.	.	.	.	.	.	0.00902435597756119	0.11783	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	0.456	0.15868	1.014000	0.29553	-0.064000	0.12386	0.500000	0.22704	0.882000	0.31029	0.389000	0.24654	0.040000	0.14268	0.3026:0.0:0.5033:0.194	3.234	0.06358	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	793.33	41	chr8	141478754	.	G	T	793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=760;ExcessHet=0;FS=1.092;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.742;SOR=0.469	GT:AD:DP:GQ:PL	0/1:24,30:54:99:807,0,551	18	0	1	0
chr8	143929801	143929801	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon23:c.G2726A:p.R909H,PLEC:NM_201379:exon23:c.G2702A:p.R901H,PLEC:NM_201380:exon23:c.G3179A:p.R1060H,PLEC:NM_201381:exon23:c.G2672A:p.R891H,PLEC:NM_201382:exon23:c.G2768A:p.R923H,PLEC:NM_201383:exon23:c.G2780A:p.R927H,PLEC:NM_201384:exon23:c.G2768A:p.R923H,PLEC:NM_000445:exon24:c.G2849A:p.R950H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1514	7	1	0	9	0.00296345	.	.	.	457390	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.532528383408	8e-05	.	0.0001	0	0.0002	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs371122460	9.468e-05	9.85e-05	9.905e-05	9.028e-05	0.0007	8.176e-05	7.662e-05	0.0002	0.0002	2.993e-05	0.0003	0	0.0002	7.314e-05	0.0007	9.097e-05	8.309e-05	1.162e-05	3.943e-05	3.94e-05	6.423e-05	1.345e-05	7.351e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	0	0	6.54e-05	0	0	0	0	7.351e-05	0	0	0.012	0.57480	D	0.014	0.64786	D	0.986	0.61523	D	0.584	0.50293	P	0.001547	0.38671	U	0.099352	0.99936	0.46798	D	0.965	0.23975	L	-1.07	0.77466	T	0.38	0.06026	N	0.455	0.55366	-0.6872	0.61038	T	0.268	0.63960	T	10	0.18487486	0.33882	T	0.532528	0.95609	D	0.257	0.56827	.	.	0.770135142543	0.76802	0.475017415538734	0.47420	.	.	0.549523174763	0.45791	T	0.239134	0.60719	T	-0.196903	0.21252	T	-0.204458	0.54224	T	0.0725783495228541	0.09009	T	0.952405	0.96221	D	0.114991955	0.27141	0.1306339	0.31385	0.114991955	0.27141	0.1306339	0.31385	-4.093	0.37643	T	0.2089304811414547	0.27957	0.093	0.16713	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.725770	0.76062	26.4	0.84277680819181389	0.15198	0.67245	0.33363	D	AEFDGBCI	0.202447	0.32903	N	0.0349117889380892	0.43448	2.637603	0.0631927368315198	0.42713	2.58842	0.999999998786896	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.79	4.79	0.60909	2.269000	0.43005	.	.	0.539000	0.25131	0.985000	0.35982	0.998000	0.33993	0.983000	0.59808	0.0:0.9124:0.0:0.0876	11.062	0.47173	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1185.33	33	chr8	143929801	.	C	T	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.57;DP=1138;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.31;SOR=0.63	GT:AD:DP:GQ:PL	0/1:67,49:116:99:1199,0,1678	18	0	1	0
chr8	144139075	144139075	A	G	exonic	HGH1	.	nonsynonymous SNV	HGH1:NM_016458:exon4:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.014896837752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028032893	1.437e-05	1.436e-05	1.089e-05	1.788e-05	1.709e-05	9.23e-06	7.84e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	3.312e-05	0	3.284e-05	3.283e-05	2.569e-05	4.033e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.342	0.12632	T	0.289	0.21078	T	0.804	0.45171	P	0.566	0.49756	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	.	.	.	0.82	0.48142	T	-1.33	0.33197	N	0.212	0.23632	-0.9265	0.44645	T	0.164	0.50144	T	10	0.22163445	0.38894	T	0.014897	0.35312	T	0.118	0.32913	0.479	0.55823	0.107399877778	0.10242	0.4729696627140401	0.47215	.	.	0.635546386242	0.57932	T	0.04153	0.25890	T	0.00158271	0.51873	T	-0.235503	0.51236	T	0.89125669002533	0.54218	D	0.815918	0.47089	T	0.15341735	0.34776	0.17026141	0.39122	0.15341735	0.34776	0.17026141	0.39121	-9.637	0.71709	D	.	.	0.106	0.19598	B	.	.	3.748733	0.53721	23.4	0.99859763382848155	0.93820	0.97395	0.74477	D	AEFGI	0.484433	0.52445	N	0.375690749742399	0.60108	4.196177	0.416724750002354	0.62607	4.478917	0.999887222191409	0.44867	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	3.591000	0.53733	7.863000	0.71547	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.335	0.48734	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2226.33	34	chr8	144139075	.	A	G	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=805;ExcessHet=0;FS=5.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=2.6;SOR=0.387	GT:AD:DP:GQ:PL	0/1:63,85:148:99:2240,0,1652	18	0	1	0
chr9	5832840	5832840	C	T	exonic	ERMP1	.	nonsynonymous SNV	ERMP1:NM_024896:exon1:c.G188A:p.G63D	.	435	1038	47	2	0	51	0.0239774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00439297	0.0159	0	0.0396	0	0.0526	0.0191	0.0172	0.0143	0.0043466	672	154602	rs62638713	0.0093	0.0090	0.0092	0.0094	0.0254	0.0092	0.0091	0.0217	0.0204	0.0016	0.0054	0.0009	3.25e-05	0.0047	0.0254	0.0100	0.0079	0.0121	0.0059	0.0059	0.0062	0.0056	0.0106	0.0056	0.0054	0.0089	0.0087	0.0017	0	0.0043	0.0014	0	0.0036	0.0171	0.0095	0.0066	0.0106	0.266	0.16251	T	0.69	0.05920	T	0.019	0.17989	B	0.01	0.14941	B	0.142589	0.18239	N	0.458821	0.999983	0.18198	N	0	0.06538	N	0.98	0.42122	T	-0.03	0.07444	N	0.183	0.19861	-1.0601	0.11731	T	0.019	0.07800	T	10	0.004243642	0.00085	T	.	.	.	0.021	0.04004	.	.	0.152612264143	0.14878	0.5784803817705325	0.57777	1.05125465116	0.76159	0.825586915016	0.85886	D	0.013723	0.11817	T	-0.604661	0.00136	T	-0.630299	0.10392	T	0.0105604246406136	0.00147	T	0.342666	0.07446	T	0.032854058	0.03392	0.061487466	0.11881	0.032854058	0.03391	0.061487466	0.11881	-5.847	0.44982	T	.	.	0.124	0.26106	B	.	.	1.773328	0.22548	15.67	0.98681839479498568	0.44624	0.40144	0.26371	N	ALL	0.041827	0.06411	N	-1.09074595480116	0.06812	0.314695	-1.08348989215683	0.08025	0.3928126	0.999999995902894	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.519653	0.09787	0	0.71	0.69187	0	.	.	3.39	-1.32	0.08721	-0.520000	0.06338	.	.	-0.375000	0.05424	0.719000	0.28811	0.000000	0.08366	0.007000	0.07825	0.2528:0.2195:0.4238:0.1039	2.659	0.04714	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019027	0.000000	0.014577	0.039877	0.050000	0.034483	0.019355	0.000000	0.1053	4328.41	40	chr9	5832840	.	C	T	4328.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.166;DP=805;ExcessHet=0.0101;FS=1.301;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.495;SOR=0.869	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1095,0,669	16	1	2	0
chr9	16419551	16419551	C	T	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_001317940:exon6:c.G2453A:p.R818H,BNC2:NM_017637:exon7:c.G2738A:p.R913H	.	421	1098	3	0	0	3	0.00136426	.	.	.	2357073	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0155834490296	0.0002	0.000199681	9.164e-05	9.94e-05	8.652e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs142906838	4.31e-05	4.309e-05	3.948e-05	4.675e-05	0.0002	3.442e-05	3.129e-05	2.625e-05	2.305e-05	5.974e-05	2.236e-05	0.0005	2.519e-05	0	0.0002	3.507e-05	8.279e-05	0	3.29e-05	3.283e-05	1.286e-05	5.389e-05	0.0001	1.262e-05	7.99e-06	2.265e-05	9.09e-06	4.825e-05	0	0.0001	0	0	0	0	1.471e-05	0	0	0.143	0.25355	T	0.206	0.27056	T	0.994	0.66517	D	0.6	0.50752	P	0.000001	0.84330	D	0.056493	1	0.81001	D	1.845	0.48678	L	1.34	0.34841	T	-0.93	0.29727	N	0.56	0.80572	-1.0736	0.08639	T	0.125	0.42903	T	10	0.20569676	0.36805	T	0.015583	0.36391	T	0.212	0.50341	.	.	0.134007934775	0.12933	0.6088567499262493	0.60817	0.472355865336	0.46475	0.72979092598	0.71475	T	0.095625	0.39659	T	-0.0698011	0.41358	T	-0.155894	0.58719	T	0.260132908821106	0.23320	T	0.931207	0.74412	D	0.15378016	0.34841	0.1262532	0.30410	0.15378016	0.34841	0.1262532	0.30409	-5.712	0.43800	T	.	.	0.152	0.45359	B	.;.	.;.	4.242053	0.64317	24.7	0.99900386499457372	0.97199	0.96916	0.71642	D	AEFBI	0.811244	0.73428	D	0.478028563637865	0.65808	4.869431	0.544112587376567	0.70988	5.586978	0.999999999981884	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	6.156000	0.71637	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.393	0.94585	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1239.33	47	chr9	16419551	.	C	T	1239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=893;ExcessHet=0;FS=2.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.06;SOR=0.922	GT:AD:DP:GQ:PL	0/1:67,50:117:99:1253,0,1600	18	0	1	0
chr9	20929532	20929532	G	A	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375570:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375567:exon27:c.G3253A:p.V1085M,FOCAD:NM_017794:exon29:c.G3253A:p.V1085M	.	432	1079	11	0	0	11	0.00507146	.	.	.	767365	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.369	0.0181318337219	0.0003	0.000399361	0.0005	0	0.0003	0	0	0.0002	0.0011	0.0028	0.0004786	74	154602	rs143564901	0.0004	0.0004	0.0003	0.0005	0.0034	0.0004	0.0004	0.0031	0.0030	0.0001	0.0003	0	5.038e-05	1.872e-05	0.0033	0.0002	0.0007	0.0034	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0001	0	0.0002	0	0	0	0	0.0002	0.0009	0.0012	0.035	0.43708	D	0.02	0.92824	D	.	.	.	.	.	.	0.007025	0.31644	N	0.331333	0.980415	0.39664	D	.	.	.	-1.02	0.76300	T	-0.92	0.24676	N	0.381	0.52297	-0.3440	0.73728	T	0.314	0.68397	T	10	0.01407221	0.00297	T	0.018132	0.40089	T	0.369	0.68844	.	.	0.709331485652	0.70679	0.4688371267529804	0.46802	0.00646287402462	0.00566	0.564574897289	0.47913	T	0.070962	0.34090	T	-0.200618	0.20715	T	-0.0630554	0.66118	T	0.0402515653521763	0.03736	T	0.877312	0.59878	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36791	B	.;.;.;.;.	.;.;.;.;.	3.509311	0.49139	22.7	0.99677011677302574	0.78977	0.89913	0.50694	D	AEFDBIJ	0.339076	0.43634	N	0.356378925210758	0.59077	4.084305	0.415274820377807	0.62515	4.468268	0.981747679325063	0.30305	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.525792	0.08840	0	.	.	6.06	5.16	0.70563	2.693000	0.46694	6.745000	0.56495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0675:0.1291:0.8034:0.0	10.946	0.46511	435	0.80441	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3172.83	33	chr9	20929532	.	G	A	3172.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=849;ExcessHet=0.119;FS=0.459;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.82;SOR=0.736	GT:AD:DP:GQ:PL	0/1:66,76:142:99:1656,0,1543	17	0	2	0
chr9	35906608	35906610	CCG	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.321_323del:p.R108del	.	878	634	4	4	2	14	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0	0.0005	0.0005	0.0014	0.0040	0	0.0063	1.29e-05	2	154602	rs774393162	0.0019	0.0075	0.0017	0.0020	0.0044	0.0018	0.0018	0.0034	0.0032	0.0005	0.0006	0.0033	0.0001	0.0010	0.0044	0.0019	0.0012	0.0038	0.0018	0.0064	0.0015	0.0021	0.0138	0.0014	0.0013	0.0083	0.0067	0.0001	0.0040	0.0032	0.0023	0	0.0017	0	0.0017	0	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	50.68	52	chr9	35906607	.	ACCG	A	50.68	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.31;DP=622;ExcessHet=0;FS=2.013;InbreedingCoeff=-0.0416;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=-1.625;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,4:32:64:0|1:35906607_ACCG_A:64,0,1152:35906607	17	0	1	1
chr9	36085320	36085320	A	C	exonic	RECK	.	nonsynonymous SNV	RECK:NM_001316346:exon9:c.A692C:p.H231P	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs867033774	0.0067	0.0003	0.0076	0.0061	0.0358	0.0054	0.0050	0.0285	0.0259	0.0054	0	0	0	0	0.0358	0.0005	0.0062	0.0016	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	2.406e-05	0	0.0003	0.0003	0	0	0.0204	0.0003	0.0009	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	173.33	32	chr9	36085320	.	A	C	173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.662;DP=619;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=0.378;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,9:29:99:1|0:36085310_C_T:187,0,813:36085310	18	0	1	0
chr9	36657365	36657365	T	C	splicing	MELK	NM_001256689:exon12:c.1080+2T>C;NM_001256690:exon11:c.963+2T>C;NM_001256688:exon11:c.963+2T>C;NM_001256691:exon11:c.936+2T>C;NM_001256692:exon10:c.783+2T>C;NM_001256687:exon12:c.1032+2T>C;NM_001256693:exon11:c.594+2T>C;NM_014791:exon13:c.1176+2T>C	.	.	.	431	1090	1	0	0	1	0.000458505	0.9446	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762236108	2.07e-06	3.42e-06	1.373e-06	2.776e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.669e-05	1.204e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0629331	0.42448	T	-0.218117	0.52917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	3.996175	0.58848	24.0	0.94671662976925341	0.25297	0.73048	0.35737	D	AEFBI	.	.	.	0.739062907737821	0.82190	7.702037	0.495220592321013	0.67674	5.115584	0.904053036955113	0.26169	0.156188	0.03335	0	0.104858	0.03167	0	0.231514	0.04749	0	0.109871	0.03346	0	0.950321	0.61932	4.11	4.11	0.47350	2.916000	0.48511	7.043000	0.57343	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.0:1.0	9.808	0.39973	548	0.72362	.;.;.;.;.;.	.	.	.	.	.	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	538.33	34	chr9	36657365	.	T	C	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.938;SOR=0.793	GT:AD:DP:GQ:PL	0/1:24,23:47:99:552,0,551	18	0	1	0
chr9	39078767	39078767	G	T	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon22:c.C3596A:p.P1199H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.463037128718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.031	0.54159	D	0.117	0.32870	B	0.008	0.27432	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	-2.56	0.91134	D	-0.57	0.17210	N	0.068	0.08227	-0.5250	0.67729	T	0.423	0.76770	T	9	0.1626207	0.30473	T	0.463037	0.94547	D	0.088	0.25558	0.292	0.25400	0.663816143375	0.66099	0.3781253810273098	0.37727	.	.	0.860790371895	0.91227	D	0.018688	0.15024	T	-0.0788451	0.39902	T	-0.351032	0.39087	T	0.124918663577036	0.14905	T	0.623938	0.24648	T	0.10178042	0.24043	0.079967454	0.18048	0.10178042	0.24043	0.079967454	0.18047	-8.01	0.61138	D	.	.	0.168	0.37932	B	.;.	.;.	1.865799	0.23701	16.12	0.95136046552492159	0.26251	0.05018	0.10798	N	AEFDBHCI	0.029093	0.02684	N	-0.977927883151467	0.09076	0.4280886	-1.0485787843777	0.08737	0.4310187	1.35465726334374E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.475579	0.07313	0	0.567892	0.33627	0	.	.	2.09	1.14	0.19817	1.040000	0.29888	-4.011000	0.02395	0.593000	0.32247	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.7399:0.2601	7.436	0.26330	988	0.01987	Laminin G domain;Laminin G 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	.	.	.	.	.	.	.	.	0.02778	46.91	.	chr9	39078767	.	G	T	46.91	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.593;DP=143;ExcessHet=0;FS=0;InbreedingCoeff=-0.0412;MLEAC=1;MLEAF=0.028;MQ=46.38;MQRankSum=-0.967;QD=4.69;ReadPosRankSum=0.589;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:39078742_C_T:60,0,274:39078742	17	0	1	1
chr9	65283920	65283920	T	C	exonic	FOXD4L5	.	nonsynonymous SNV	FOXD4L5:NM_001126334:exon1:c.A458G:p.Q153R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.795	0.957654729334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.999	0.92359	D	0.003546	0.34793	U	0.000000	0.999923	0.51308	D	2.555	0.74557	M	-3.84	0.95826	D	-3.99	0.73893	D	0.593	0.61256	0.824	0.94708	D	0.897	0.96568	D	9	0.88507456	0.87832	D	0.217255	0.87599	D	0.579	0.83024	0.851	0.95260	0.241078983079	0.23725	0.09100260374457012	0.09033	.	.	0.795709490776	0.81310	T	0.696075	0.91206	D	0.15994	0.70195	D	-0.00803371	0.69813	D	0.995917141437531	0.88308	D	0.925407	0.72589	D	0.67513406	0.76708	0.5306149	0.72879	0.67513406	0.76709	0.5306149	0.72879	-12.388	0.86690	D	.	.	0.855	0.80040	P	.	.	5.246197	0.88079	29.5	0.97220010680230196	0.32896	0.57708	0.30448	D	AEFI	0.362026	0.45143	N	0.128642228579915	0.47803	3.000927	-0.132658408556001	0.34082	1.956573	2.92381116194186E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	.	.	.	7.423000	0.79424	5.785000	0.49830	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	5.994	0.18714	.	.	Fork head domain|Fork head domain|Fork head domain conserved site 2|Fork head domain|Fork head domain|Fork head 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	124.33	29	chr9	65283920	.	T	C	124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.676;DP=577;ExcessHet=0;FS=4.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.26;MQRankSum=0.636;QD=5.65;ReadPosRankSum=-1.199;SOR=0.047	GT:AD:DP:GQ:PL	0/1:15,7:22:99:138,0,368	18	0	1	0
chr9	67901272	67901272	G	C	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon15:c.G2277C:p.E759D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000460842001475	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380982145	0.0004	0.0003	0.0002	0.0006	0.0042	0.0003	0.0003	0.0037	0.0035	0	0	0.0007	0	0	0.0012	4.824e-05	0.0001	0.0042	9.076e-05	8.6e-05	8.179e-05	0.0001	0.0020	3.853e-05	2.635e-05	0.0005	0.0003	0	0	0	0.0006	0	0	0	6.278e-05	0	0.0020	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.070409596	0.10239	T	.	.	.	.	.	.	.	.	.	0.0012309652286061953	0.00114	.	.	.	.	.	0.014377	0.12250	T	.	.	.	.	.	.	.	.	.	0.463654	0.13513	T	.	.	.	.	.	.	.	.	-3.78	0.20506	T	.	.	0.170	0.37312	B	.	.	0.614680	0.09830	6.595	.	.	.	.	.	.	0.084743	0.17177	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584000	0.23565	0.668000	0.20568	-0.785000	0.03297	0.430000	0.26409	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	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	.	.	.	.	.	.	.	.	0.02632	77.42	7	chr9	67901272	.	G	C	77.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=202;ExcessHet=0;FS=0;InbreedingCoeff=-0.033;MLEAC=1;MLEAF=0.026;MQ=23.77;MQRankSum=0.566;QD=9.68;ReadPosRankSum=1.42;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:91:91,0,121	18	0	1	0
chr9	72223211	72223211	G	A	exonic	GDA	.	nonsynonymous SNV	GDA:NM_001242505:exon7:c.G698A:p.R233H,GDA:NM_001242507:exon7:c.G476A:p.R159H,GDA:NM_001351571:exon7:c.G572A:p.R191H,GDA:NM_001351572:exon7:c.G698A:p.R233H,GDA:NM_001351573:exon7:c.G698A:p.R233H,GDA:NM_004293:exon7:c.G698A:p.R233H,GDA:NM_001242506:exon8:c.G476A:p.R159H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.13659809229	7.7e-05	0.000399361	0.0002	0.0005	0	0.0024	0	1.5e-05	0	0	0.0001876	29	154602	rs142139311	5.362e-05	5.678e-05	5.612e-05	5.11e-05	0.0010	4.365e-05	4.037e-05	0.0007	0.0007	0.0004	0	0	0.0010	1.873e-05	0.0005	1.447e-05	1.663e-05	5.813e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.661e-05	7.253e-05	0.0004	0.0002	0.0003	0	0.0001	0	0.0010	0	0	0	0	0	0.996	0.06502	T	0.56	0.09113	T	0.0	0.02946	B	0.0	0.01387	B	0.075150	0.21241	N	0.560216	1	0.81001	D	-1.9	0.00240	N	-2.65	0.90210	D	1.53	0.01246	N	0.107	0.14338	-0.7070	0.60100	T	0.278	0.65017	T	10	0.0110397935	0.00243	T	0.136598	0.81909	D	0.247	0.55478	.	.	0.647727050542	0.64480	0.5594619221670496	0.55873	0.4403143847	0.44044	0.214681878686	0.01025	T	0.163328	0.50834	T	-0.367828	0.03705	T	-0.32015	0.42559	T	0.0123815296952056	0.00202	T	0.811219	0.46271	T	0.16433354	0.36633	0.07996564	0.18048	0.16433354	0.36633	0.07996564	0.18047	-1.276	0.01867	T	.	.	0.075	0.05360	B	.;.;.;.	.;.;.;.	0.569357	0.09378	6.159	0.51785298073599306	0.04626	0.00966	0.03700	N	AEFBI	0.158168	0.28378	N	-1.38114702951648	0.02815	0.1248416	-1.22197995147385	0.05558	0.2651682	0.00565563497271055	0.11005	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-1.51	0.08207	0.050000	0.14004	0.036000	0.13800	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.739:0.0:0.261:0.0	10.675	0.44979	783	0.47268	.;.;Amidohydrolase-related;Amidohydrolase-related	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	1377.33	35	chr9	72223211	.	G	A	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.359;SOR=0.746	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1391,0,1278	18	0	1	0
chr9	76175042	76175042	C	T	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon14:c.C1813T:p.P605S,PCSK5:NM_001372043:exon14:c.C1813T:p.P605S,PCSK5:NM_006200:exon14:c.C1813T:p.P605S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0149198027941	.	.	8.251e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs752940234	1.916e-05	1.915e-05	1.634e-05	2.2e-05	0.0003	1.328e-05	1.144e-05	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	1.889e-05	1.656e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.47745	T	0.209	0.26798	T	0.128	0.27003	B	0.065	0.27321	B	0.012516	0.29149	N	0.390390	0.999929	0.51308	D	1.52	0.38360	L	0.84	0.68181	T	-2.78	0.67359	D	0.441	0.63713	-0.8680	0.50679	T	0.210	0.56959	T	10	0.2866583	0.46248	T	0.01492	0.35345	T	0.196	0.47777	0.238	0.16912	0.581850371773	0.57856	0.2988515260220359	0.29798	2.03905293338	0.94204	0.732979893684	0.71942	T	0.279671	0.65235	T	0.056754	0.59204	T	-0.0556233	0.66636	D	0.808001220226288	0.46906	D	0.860114	0.56114	D	0.14289562	0.32866	0.16032708	0.37347	0.14289562	0.32866	0.16032708	0.37346	-5.247	0.45161	T	.	.	0.196	0.41798	B	.;.;.;.	.;.;.;.	3.679637	0.52371	23.2	0.99803462296552303	0.88817	0.99029	0.90187	D	AEFI	0.592761	0.58835	D	0.0167753429501407	0.42618	2.571285	0.232164127726741	0.51640	3.344862	0.999999227090197	0.74766	0.751926	0.98777	0	0.541168	0.11318	0	0.639134	0.45391	0	0.755437	0.99637	0	.	.	5.74	5.74	0.90070	4.850000	0.62587	7.594000	0.61341	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.933	0.97125	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2266.33	34	chr9	76175042	.	C	T	2266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.282;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.797;SOR=0.665	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2280,0,2657	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	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	0/1:188,127:341:99:734,0,2839	1	0	18	0
chr9	92318622	92318622	C	T	exonic	NOL8	.	nonsynonymous SNV	NOL8:NM_001330722:exon6:c.G482A:p.R161H,NOL8:NM_017948:exon6:c.G482A:p.R161H,NOL8:NM_001256394:exon7:c.G278A:p.R93H	.	476	1026	17	3	0	23	0.0110843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0046	0.00379393	0.0087	0.0017	0.0042	0	0.0100	0.0129	0.0117	0.0026	0.0073285	1133	154602	rs41277645	0.0076	0.0077	0.0077	0.0075	0.0105	0.0075	0.0074	0.0083	0.0083	0.0012	0.0046	0.0121	2.544e-05	0.0068	0.0105	0.0085	0.0077	0.0022	0.0061	0.0061	0.0061	0.0060	0.0090	0.0057	0.0056	0.0084	0.0081	0.0014	0.0417	0.0043	0.0141	0	0.0065	0.0068	0.0090	0.0095	0.0027	0.285	0.16793	T	0.393	0.22828	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	0.999294	0.21398	N	1.91	0.51138	L	2.49	0.44856	T	-1.2	0.41046	N	0.124	0.16028	-1.0449	0.15854	T	0.049	0.20947	T	9	0.0024565756	0.00037	T	.	.	.	0.013	0.01715	.	.	0.264547087235	0.26054	0.4168627501312173	0.41602	0.0630273627958	0.07016	0.245842188597	0.03343	T	0.00535	0.24182	T	-0.548503	0.00298	T	-0.551268	0.17205	T	0.0071528414580583	0.00082	T	0.106489	0.01237	T	0.030291647	0.02666	0.052772533	0.08761	0.030291647	0.02666	0.052772533	0.08760	-4.49	0.30757	T	.	.	0.077	0.09288	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.493128	0.19202	14.14	0.83054433844074205	0.14518	0.17030	0.19658	N	AEFBI	0.080389	0.16251	N	-1.06666239241809	0.07265	0.3369406	-0.973413847232161	0.10384	0.5226825	0.0982261939734063	0.16300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-1.93	0.07180	-0.110000	0.10794	-2.755000	0.03395	-0.908000	0.02283	0.353000	0.25784	0.000000	0.08366	0.975000	0.56047	0.0:0.3716:0.0:0.6284	12.651	0.56126	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs41277645	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008569	0.005051	0.010870	0.005882	0.050000	0.025862	0.009146	0.011364	0.05263	1831.83	33	chr9	92318622	.	C	T	1831.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.065;DP=747;ExcessHet=0.119;FS=0.58;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.48;SOR=0.634	GT:AD:DP:GQ:PL	0/1:37,37:74:99:791,0,838	17	0	2	0
chr9	97473502	97473502	T	C	exonic	TDRD7	.	nonsynonymous SNV	TDRD7:NM_001302884:exon10:c.T1733C:p.M578T,TDRD7:NM_014290:exon11:c.T1955C:p.M652T	Cataract 36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00682525111454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	0.05420	T	0.577	0.08594	T	0.0	0.02946	B	0.001	0.04355	B	0.000481	0.43931	N	0.284737	1	0.81001	D	-0.695	0.01866	N	2.99	0.09262	T	-0.91	0.24460	N	0.247	0.27910	-1.0347	0.18951	T	0.023	0.09650	T	10	0.11927351	0.22568	T	0.006825	0.18037	T	0.056	0.15993	0.499	0.58991	0.223146558224	0.21909	0.3073691724872469	0.30649	0.187157546737	0.21028	0.383176594973	0.22706	T	0.106116	0.41718	T	-0.225597	0.17235	T	-0.561831	0.16206	T	0.613756358623505	0.36952	D	0.656934	0.26653	T	0.07161479	0.15869	0.08137132	0.18488	0.07161479	0.15869	0.08137132	0.18487	-5.994	0.46229	T	.	.	0.082	0.08512	B	.	.	2.390496	0.30700	18.52	0.97661670722745531	0.35201	0.74017	0.36204	D	AEFBI	0.158253	0.28389	N	-0.40118977878069	0.25428	1.38024	-0.25764428601917	0.29509	1.653799	0.998525921531697	0.37129	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.23	3.1	0.34780	2.024000	0.40670	5.039000	0.46894	0.609000	0.47794	0.967000	0.34061	1.000000	0.68203	0.945000	0.48827	0.0:0.1894:0.0:0.8106	6.819	0.23029	809	0.43032	Tudor 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	1262.33	35	chr9	97473502	.	T	C	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=726;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.537;SOR=0.601	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1276,0,1410	18	0	1	0
chr9	105471961	105471961	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon4:c.G301T:p.A101S,FSD1L:NM_001287192:exon4:c.G301T:p.A101S,FSD1L:NM_001330739:exon4:c.G301T:p.A101S,FSD1L:NM_031919:exon4:c.G301T:p.A101S,FSD1L:NM_001145313:exon5:c.G397T:p.A133S	.	538	958	24	2	0	28	0.0144033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	0.0088	0.00319489	0.0081	0.0021	0	0	0.0080	0.0129	0.0121	0.0056	0.0025679	397	154602	rs117347201	0.0090	0.0086	0.0090	0.0091	0.0184	0.0089	0.0088	0.0155	0.0144	0.0017	0.0082	0.0179	3.636e-05	0.0079	0.0184	0.0094	0.0097	0.0056	0.0080	0.0080	0.0079	0.0082	0.0113	0.0076	0.0075	0.0102	0.0099	0.0019	0	0.0113	0.0185	0	0.0099	0.0213	0.0108	0.0117	0.0062	0.007	0.65419	D	0.033	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000015	0.62929	U	0.000000	0.874791	0.81001	D	2.505	0.72935	M	0.97	0.42502	T	-2.77	0.58733	D	0.597	0.68429	-0.7143	0.59741	T	0.187	0.53707	T	10	0.0049656928	0.00106	T	.	.	.	0.191	0.46948	.	.	0.526943034955	0.52341	0.36103982382109684	0.36017	.	.	0.682937860489	0.64690	T	0.039	0.29591	T	-0.343202	0.05169	T	-0.256367	0.49187	T	0.0154957271314856	0.00350	T	0.965903	0.88824	D	0.30125758	0.53017	0.33402807	0.59233	0.30125758	0.53017	0.33402807	0.59233	-6.333	0.59485	T	.	.	0.396	0.59353	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704761	0.75520	26.3	0.9960850462564681	0.74634	0.94107	0.60133	D	AEFBI	0.627507	0.60994	D	0.709707811512654	0.80268	7.257006	0.686248716511135	0.81334	7.502418	0.999965478769355	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.94	4.94	0.64645	6.915000	0.75593	11.662000	0.93998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.286	0.87029	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	FKTN|FKTN|FKTN|FKTN|FKTN	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024173	0.021739	0.000000	0.027273	0.000000	0.100000	0.030488	0.026316	0.07895	2841.79	33	chr9	105471961	.	G	T	2841.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.256;DP=824;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.767;SOR=0.721	GT:AD:DP:GQ:PL	0/1:44,33:77:99:651,0,930	16	0	3	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	885.98	94	chr9	110137052	.	G	C	885.98	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.727;DP=1351;ExcessHet=1.3;FS=149.897;InbreedingCoeff=-0.3039;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.02;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,13:66:71:0|1:110137052_G_C:71,0,1905:110137052	7	0	5	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_001136562:exon2:c.G817C:p.A273P,PALM2AKAP2:NM_001198656:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_007203:exon8:c.G1510C:p.A504P,PALM2AKAP2:NM_147150:exon8:c.G1510C:p.A504P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	735.86	94	chr9	110137054	.	G	C	735.86	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.926;DP=1423;ExcessHet=0.7564;FS=146.64;InbreedingCoeff=-0.1527;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.71;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,13:66:71:0|1:110137052_G_C:71,0,1905:110137052	14	0	3	2
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|1:147,37:184:99:0|1:114406374_C_G:214,0,4958:114406374	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|1:147,37:184:99:0|1:114406374_C_G:214,0,4958:114406374	8	0	10	1
chr9	116863593	116863593	G	A	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_014010:exon10:c.C1877T:p.S626L,ASTN2:NM_001365068:exon11:c.C2030T:p.S677L,ASTN2:NM_001365069:exon11:c.C2018T:p.S673L	.	425	1091	6	0	0	6	0.00274223	.	.	.	723289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0279527608247	0.0014	0.00299521	0.0019	0.0004	0.0007	0	0	0.0020	0.0044	0.0046	0.0018693	289	154602	rs56153291	0.0019	0.0019	0.0018	0.0021	0.0047	0.0019	0.0019	0.0043	0.0042	0.0001	0.0008	0	0	0.0003	0.0017	0.0020	0.0017	0.0047	0.0014	0.0014	0.0013	0.0016	0.0054	0.0013	0.0012	0.0038	0.0032	0.0003	0	0.0013	0	0	0.0002	0	0.0022	0.0014	0.0054	0.001	0.78490	D	0.003	0.76473	D	0.384	0.44570	B	0.023	0.29851	B	0.000471	0.44119	D	0.155416	0.97076	0.81001	D	0.55	0.14455	N	2.69	0.14160	T	-2.2	0.49519	N	0.663	0.67218	-1.0569	0.12543	T	0.029	0.12585	T	9	0.008099645	0.00184	T	0.027953	0.50703	D	0.170	0.43303	.	.	0.043077524339	0.03247	0.6465180366261594	0.64586	0.206788434855	0.23110	0.520252048969	0.41662	T	0.040822	0.25655	T	-0.39092	0.02654	T	-0.331971	0.41249	T	0.063643542392944	0.07729	T	0.955504	0.83071	D	0.19052653	0.40642	0.25663295	0.51367	0.19052653	0.40641	0.25663295	0.51366	-7.829	0.65392	D	.	.	0.212	0.43989	B	.;.;.	.;.;.	4.993013	0.82791	27.9	0.9987140796684989	0.94902	0.98812	0.87175	D	AEFI	0.865868	0.78510	D	0.31843626131489	0.57094	3.875675	0.46635079093844	0.65774	4.866404	0.999999999999997	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	9.559000	0.97245	11.747000	0.95320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:1.0:0.0	19.838	0.96663	773	0.48803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	703.33	46	chr9	116863593	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-0.415;SOR=0.608	GT:AD:DP:GQ:PL	0/1:57,31:88:99:717,0,1381	18	0	1	0
chr9	121088464	121088464	T	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001369893:exon2:c.T138G:p.F46L,CNTRL:NM_001369894:exon2:c.T138G:p.F46L,CNTRL:NM_001369896:exon2:c.T138G:p.F46L,CNTRL:NM_007018:exon3:c.T138G:p.F46L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00636475218087	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs745542511	3.422e-06	3.42e-06	4.086e-06	2.751e-06	7.564e-05	1e-06	7.3e-07	2.005e-05	1.056e-05	0	0	0	7.564e-05	0	0	8.999e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.05293	T	1.0	0.16815	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999637	0.23037	N	1.175	0.29870	L	1.94	0.22678	T	-0.24	0.11366	N	0.104	0.08925	-0.9593	0.39311	T	0.037	0.15813	T	9	0.05618441	0.06260	T	0.006365	0.16725	T	0.033	0.08068	0.385	0.40460	0.0611884634855	0.05136	0.19731643575992824	0.19648	0.0536240893065	0.05918	0.427393049002	0.28852	T	0.007754	0.07654	T	-0.431146	0.01459	T	-0.687959	0.06508	T	0.0164210592458696	0.00409	T	0.622538	0.23960	T	0.05351543	0.10138	0.051739924	0.08386	0.05351543	0.10137	0.051739924	0.08385	-2.056	0.03400	T	.	.	0.304	0.58245	B	.;.;.	.;.;.	1.481720	0.19071	14.08	0.81455498772721169	0.13694	0.49094	0.28355	N	AEFGBI	0.049092	0.08445	N	-0.808649005149708	0.13089	0.6423894	-0.748219227716517	0.15766	0.8308035	0.999853043085867	0.44174	0.538715	0.22204	0	0.633563	0.54681	0	0.618467	0.43123	0	0.528226	0.09195	0	.	.	5.54	0.221	0.14559	1.003000	0.29410	0.789000	0.21551	-0.169000	0.11342	0.818000	0.29961	0.999000	0.35428	0.613000	0.31716	0.2713:0.0759:0.1412:0.5116	2.046	0.03345	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	36	chr9	121088464	.	T	G	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.247;SOR=0.653	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1388,0,945	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|1:247,36:283:99:0|1:122724732_T_C:649,0,10193:122724732	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|1:245,26:271:99:0|1:122724732_T_C:354,0,10189:122724732	4	0	12	3
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	0/1:55,9:64:22:.:.:22,0,1408:.	10	0	7	2
chr9	127720310	127720310	C	T	exonic	TTC16	.	nonsynonymous SNV	TTC16:NM_001317037:exon6:c.C533T:p.T178M,TTC16:NM_144965:exon6:c.C572T:p.T191M	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0268538854436	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762845145	6.844e-06	6.84e-06	4.086e-06	9.63e-06	2.987e-05	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.023	0.48186	D	0.01	0.65728	D	0.809	0.45342	P	0.157	0.34536	B	0.028838	0.01692	N	2.275950	1	0.08975	N	0.69	0.16971	N	0.63	0.53088	T	-1.81	0.42575	N	0.319	0.35938	-1.0287	0.20876	T	0.084	0.32957	T	10	0.124394596	0.23625	T	0.026854	0.49730	D	0.050	0.13987	0.293	0.25560	0.59360226722	0.59038	0.08028305149488298	0.07963	0.206451347824	0.23069	0.290739953518	0.09030	T	0.00861	0.07893	T	-0.280116	0.10654	T	-0.543289	0.17974	T	0.21707846224308	0.21317	T	0.420658	0.11177	T	0.023875207	0.01165	0.043757204	0.05515	0.023875207	0.01165	0.043757204	0.05515	-7.327	0.56387	T	.	.	0.096	0.15206	B	.	.	1.346908	0.17541	13.22	0.97494907475099546	0.34262	0.04075	0.09532	N	AEFDGBI	0.074952	0.15038	N	-0.734064839943003	0.15070	0.7562193	-0.83951137495434	0.13540	0.7029487	0.999987402268112	0.51787	0.554377	0.28877	0	0.573078	0.20572	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.17	0.549	0.16403	-0.285000	0.08444	-1.018000	0.06590	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2198:0.4925:0.1196:0.1681	3.062	0.05828	279	0.89001	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	.	.	.	.	.	.	.	.	0.02632	1797.33	36	chr9	127720310	.	C	T	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=775;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-1.458;SOR=0.48	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1811,0,1546	18	0	1	0
chr9	128945854	128945854	T	C	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.A1450G:p.I484V	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	229664	Cardiovascular_phenotype|DK1-congenital_disorder_of_glycosylation|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0007	0.00319489	0.0020	0.0002	0	0	0.0002	0.0007	0.0033	0.0111	0.001727	267	154602	rs147630977	0.0010	0.0010	0.0007	0.0012	0.0091	0.0009	0.0009	0.0086	0.0084	5.974e-05	0.0002	3.826e-05	2.519e-05	5.616e-05	0.0061	0.0004	0.0015	0.0091	0.0008	0.0008	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	7.217e-05	0	0.0005	0	0	9.413e-05	0	0.0007	0.0009	0.0104	0.161	0.23631	T	0.242	0.24264	T	0.017	0.17573	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	0.999902	0.50806	D	1.18	0.29980	L	0.29	0.58897	T	-0.36	0.13035	N	0.189	0.20660	-1.0069	0.27881	T	0.130	0.44048	T	10	0.008740902	0.00198	T	.	.	.	0.057	0.16321	.	.	0.634202473982	0.63120	0.4641050550355261	0.46329	0.307689579092	0.33064	0.695589542389	0.66507	T	0.197011	0.55356	T	-0.459298	0.00993	T	-0.424564	0.30554	T	0.00924988242751401	0.00117	T	0.779722	0.41422	T	0.04478138	0.07219	0.06884091	0.14427	0.06063995	0.12468	0.0722512	0.15564	-3.126	0.11597	T	0.2537091946592083	0.34318	0.118	0.24123	B	.	.	1.453646	0.18750	13.91	0.96607820403466116	0.30430	0.91131	0.52921	D	AEFDBI	0.310156	0.41625	N	-0.269190474146577	0.30345	1.691105	-0.120153768624484	0.34578	1.99061	0.999997413625794	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.46	3.13	0.35090	2.843000	0.47939	1.968000	0.29973	0.665000	0.62972	1.000000	0.71638	0.996000	0.32793	0.674000	0.33367	0.0:0.1531:0.0:0.8469	8.782	0.33955	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.018939	0.02632	3605.33	36	chr9	128945854	.	T	C	3605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.894;DP=971;ExcessHet=0;FS=4.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.737;SOR=0.71	GT:AD:DP:GQ:PL	0/1:191,148:339:99:3619,0,4949	18	0	1	0
chr9	130418837	130418837	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon86:c.C13027T:p.R4343W	.	422	1082	17	1	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	.	.	0.00599042	0.0164	0.0024	0.0081	0	0.0124	0.0097	0.0082	0.0286	0.0021992	340	154602	rs368328308	0.0063	0.0061	0.0060	0.0067	0.0151	0.0062	0.0062	0.0144	0.0141	0.0007	0.0025	0.0042	0.0001	0.0053	0.0064	0.0063	0.0059	0.0151	0.0046	0.0046	0.0047	0.0046	0.0147	0.0044	0.0042	0.0119	0.0109	0.0011	0.0022	0.0014	0.0049	0	0.0048	0.0034	0.0072	0.0038	0.0147	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.24758	0.080	0.83798	D	0.455	0.78749	T	8	0.009239852	0.00209	T	.	.	.	.	.	.	.	0.362758974969	0.35886	0.39281932267828	0.39196	.	.	.	.	.	0.144993	0.48189	T	-0.418746	0.01742	T	-0.361302	0.37900	T	0.01104468256202	0.00160	T	0.793221	0.43505	T	0.18856132	0.40360	0.18025486	0.40814	0.18856132	0.40360	0.18025486	0.40813	-6.74	0.52111	T	.	.	0.096	0.15430	B	.	.	3.196607	0.43450	21.7	0.99615193538493296	0.75052	0.30160	0.24010	N	AEFBI	0.249967	0.37010	N	-0.0207038998715754	0.40920	2.438431	-0.210022839848736	0.31174	1.761862	0.624009868167931	0.21910	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.42	3.54	0.39650	1.838000	0.38851	0.754000	0.21260	0.599000	0.40250	0.155000	0.23727	0.000000	0.08366	0.696000	0.34018	0.3334:0.6666:0.0:0.0	11.160	0.47735	366	0.84579	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2503.33	40	chr9	130418837	.	C	T	2503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.364;DP=825;ExcessHet=0;FS=1.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-1.826;SOR=0.523	GT:AD:DP:GQ:PL	0/1:67,103:170:99:2517,0,1523	18	0	1	0
chr9	131151751	131151751	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon17:c.A2263G:p.I755V,NUP214:NM_005085:exon17:c.A2293G:p.I765V	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	9	1462	46	5	0	56	0.0187919	.	.	.	711799	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0061	0.0091853	0.0097	0.0014	0.0025	0	0.0011	0.0089	0.0143	0.0321	0.0090361	1397	154602	rs61756081	0.0086	0.0087	0.0078	0.0094	0.0305	0.0085	0.0084	0.0295	0.0291	0.0012	0.0032	0.0228	0.0001	0.0014	0.0157	0.0076	0.0097	0.0305	0.0054	0.0054	0.0055	0.0053	0.0305	0.0051	0.0050	0.0265	0.0249	0.0012	0	0.0036	0.0202	0.0002	0.0014	0.0034	0.0068	0.0071	0.0305	0.247	0.22486	T	0.071	0.43721	T	0.996	0.68779	D	0.994	0.82059	D	0.000812	0.41658	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.15	0.40469	T	-0.71	0.20145	N	0.217	0.24260	-0.8791	0.49833	T	0.098	0.36548	T	10	0.00616318	0.00139	T	.	.	.	0.073	0.21317	.	.	0.485999240436	0.48233	0.21308024907835285	0.21224	0.0833740660745	0.09400	0.589299201965	0.51395	T	0.190715	0.54534	T	-0.43884	0.01314	T	-0.380142	0.35705	T	0.0246661170356991	0.01229	T	0.847515	0.52873	T	0.0484663	0.08453	0.06507281	0.13137	0.057485644	0.11446	0.06507281	0.13136	-5.236	0.39305	T	.	.	0.124	0.29394	B	.;.;.	.;.;.	3.931126	0.57454	23.9	0.99851761160429398	0.93102	0.95398	0.64564	D	AEGBCI	0.726859	0.67539	D	0.356230630539747	0.59069	4.083457	0.480121756304526	0.66674	4.982927	0.999999999999521	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.748000	0.68333	8.000000	0.76147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.561	0.75984	357	0.85079	.;.;.	.	.	.	.	.	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	0.015657	0.000000	0.009511	0.043860	0.000000	0.008621	0.015432	0.018939	0.02632	2006.33	33	chr9	131151751	.	A	G	2006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=803;ExcessHet=0;FS=3.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.077;SOR=0.657	GT:AD:DP:GQ:PL	0/1:81,80:161:99:2020,0,2041	18	0	1	0
chr9	131465057	131465057	A	G	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384818:exon12:c.A1699G:p.N567D,PRRC2B:NM_001384821:exon12:c.A1699G:p.N567D,PRRC2B:NM_001384822:exon12:c.A1699G:p.N567D,PRRC2B:NM_001384823:exon12:c.A1699G:p.N567D,PRRC2B:NM_013318:exon12:c.A1699G:p.N567D	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.03083221136	0.0011	0.000399361	0.0012	0.0001	0.0021	0	0	0.0016	0.0070	0.0006	0.0010996	170	154602	rs201633009	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0026	0.0022	8.963e-05	0.0019	0.0160	0	7.499e-05	0.0038	0.0006	0.0018	0.0005	0.0011	0.0011	0.0009	0.0013	0.0048	0.0010	0.0009	0.0039	0.0036	0.0001	0	0.0048	0.0138	0	0	0.0034	0.0006	0.0009	0	0.008	0.91255	D	0.168	0.30631	T	0.997	0.70673	D	0.98	0.74843	D	0.000450	0.44317	U	0.000000	0.999039	0.81001	D	2.535	0.73915	M	2.66	0.12575	T	-1.62	0.46842	N	0.363	0.40465	-1.1248	0.02048	T	0.081	0.31972	T	10	0.006463617	0.00146	T	0.030832	0.53053	D	0.124	0.34239	.	.	0.31506500091	0.31122	0.07930690548798583	0.07865	0.152049090641	0.17156	0.441547840834	0.30789	T	0.007137	0.38051	T	-0.520742	0.00436	T	-0.527262	0.19561	T	0.0612582935470899	0.07366	T	0.89721	0.64041	D	0.19790393	0.41673	0.21892087	0.46612	0.19790393	0.41673	0.21892087	0.46611	-2.56	0.07153	T	.	.	0.152	0.33619	B	.;.;.	.;.;.	3.132152	0.42329	21.5	0.99619465539056717	0.75353	0.99006	0.89858	D	AEFGBI	0.563202	0.57048	D	0.445573429330412	0.63954	4.639287	0.407748524904614	0.62047	4.413752	0.999999682380183	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.48	5.48	0.80675	4.656000	0.61178	6.073000	0.53275	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	1.0:0.0:0.0:0.0	14.746	0.69108	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1197.33	33	chr9	131465057	.	A	G	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.36;SOR=0.699	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1211,0,1396	18	0	1	0
chr9	131626023	131626023	C	T	exonic	RAPGEF1	.	nonsynonymous SNV	RAPGEF1:NM_001377936:exon9:c.G1454A:p.G485D,RAPGEF1:NM_001377937:exon9:c.G1487A:p.G496D,RAPGEF1:NM_001377938:exon9:c.G1487A:p.G496D,RAPGEF1:NM_001304275:exon10:c.G1601A:p.G534D,RAPGEF1:NM_001377935:exon10:c.G1601A:p.G534D,RAPGEF1:NM_005312:exon10:c.G1550A:p.G517D,RAPGEF1:NM_198679:exon10:c.G1604A:p.G535D	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00766635601893	0.0010	0.000199681	0.0009	0.0001	0.0016	0	0	0.0012	0.0056	0.0005	0.0008344	129	154602	rs200547421	0.0007	0.0007	0.0007	0.0008	0.0045	0.0007	0.0007	0.0032	0.0027	5.979e-05	0.0009	0.0094	0	1.873e-05	0.0045	0.0006	0.0013	0.0005	0.0007	0.0007	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0010	9.625e-05	0	0.0016	0.0095	0	0	0.0102	0.0006	0.0019	0	0.08	0.37118	T	0.128	0.35840	T	0.072	0.26577	B	0.046	0.34472	B	0.000029	0.55875	D	0.158578	0.998864	0.21844	N	1.245	0.31408	L	1.78	0.25678	T	-1.41	0.34795	N	0.369	0.43320	-0.9632	0.38567	T	0.027	0.11441	T	10	0.0063326657	0.00143	T	0.007666	0.20352	T	0.038	0.09825	.	.	0.331200485591	0.32731	0.13244675229844763	0.13168	0.332573851108	0.35307	0.362424194813	0.19739	T	0.270897	0.64319	T	-0.469592	0.00855	T	-0.503661	0.21969	T	0.0218538755304904	0.00892	T	0.924508	0.72366	D	0.07249969	0.16133	0.12690374	0.30556	0.07249969	0.16132	0.12690374	0.30555	-4.827	0.34905	T	.	.	0.125	0.28607	B	.;.;.	.;.;.	2.361632	0.30291	18.39	0.98853695507658379	0.47339	0.21254	0.21336	N	AEFDBCI	0.093245	0.18868	N	-0.787866794133495	0.13625	0.6725944	-0.676412891342385	0.17550	0.9337425	0.999962661069407	0.48965	0.712529	0.81865	0	0.696144	0.67643	0	0.635938	0.45252	0	0.741806	0.99463	0	.	.	5.07	1.9	0.24770	0.950000	0.28720	1.561000	0.27357	0.599000	0.40250	0.031000	0.20493	0.835000	0.27248	0.997000	0.79791	0.0:0.4277:0.4828:0.0895	9.060	0.35589	453	0.79178	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1501.33	34	chr9	131626023	.	C	T	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=767;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.093;SOR=0.536	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1515,0,1838	18	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid 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	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.1471	639.25	27	chr9	133208141	.	T	A	639.25	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.043;DP=366;ExcessHet=1.3;FS=0.892;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.147;MQ=56.82;MQRankSum=-4.721;QD=5.07;ReadPosRankSum=-0.827;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,7:24:99:.:.:176,0,447:.	12	0	5	2
chr9	133333753	133333753	G	A	exonic	SURF6	.	stopgain	SURF6:NM_001278942:exon3:c.C358T:p.R120X,SURF6:NM_006753:exon3:c.C358T:p.R120X	.	319	1202	1	0	0	1	0.0004158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.539e-06	0	0	0	0	1.549e-05	0	0	1.29e-05	2	154602	rs782430714	1.026e-05	1.026e-05	1.225e-05	8.252e-06	2.319e-05	6.16e-06	4.89e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	2.319e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374444	0.88350	D	0.481615	0.94238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.288605	0.98727	40	0.99838040974842757	0.91886	0.90795	0.52275	D	AEFDGBHCI	0.124417	0.24046	N	0.774967081602791	0.84518	8.310153	0.619363033421409	0.76345	6.474271	0.999999996801292	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	3.71	0.41733	3.777000	0.55071	7.387000	0.58489	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.089:0.0:0.7463:0.1647	8.106	0.30048	917	0.20147	.	.	.	.	.	.	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	805.33	33	chr9	133333753	.	G	A	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=707;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.558;SOR=0.742	GT:AD:DP:GQ:PL	0/1:46,35:81:99:819,0,1047	18	0	1	0
chr9	133344197	133344197	C	T	exonic	MED22	.	nonsynonymous SNV	MED22:NM_133640:exon4:c.G341A:p.R114Q,MED22:NM_181491:exon4:c.G341A:p.R114Q	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.023992235263	7.7e-05	0.00139776	0.0007	9.612e-05	0	0	0	1.499e-05	0.0022	0.0050	0.0006145	95	154602	rs142343469	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0046	0	0	0	0	0	0	1.259e-05	0.0004	0.0051	0.0002	0.0002	9.001e-05	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	7.227e-05	0	0	0	0	0	0	0	0	0.0050	0.219	0.19023	T	0.344	0.17804	T	0.024	0.33247	B	0.006	0.19048	B	0.000003	0.62929	N	0.101148	0.915572	0.36529	D	0.47	0.13106	N	.	.	.	-0.61	0.18042	N	0.505	0.53708	-1.0589	0.12032	T	0.045	0.19478	T	9	0.009196073	0.00208	T	0.023992	0.46971	T	0.071	0.20720	.	.	0.503930629158	0.50032	0.26908566913718107	0.26821	.	.	0.33851364255	0.16215	T	0.030498	0.21607	T	-0.442885	0.01244	T	-0.407859	0.32472	T	0.0418379709464121	0.04026	T	0.973003	0.90263	D	0.07880888	0.17968	0.106936164	0.25735	0.07880888	0.17968	0.106936164	0.25734	-3.646	0.19880	T	.	.	0.064	0.01600	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.940157	0.39093	20.9	0.99557279373623619	0.71521	0.82908	0.42075	D	AEFDGBI	0.361192	0.45089	N	-0.189479651899786	0.33571	1.906134	0.00146737525371851	0.39785	2.364159	0.999999996659991	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	4.06	0.46572	3.851000	0.55634	3.235000	0.36931	-0.190000	0.09434	1.000000	0.71638	0.999000	0.35428	0.605000	0.31514	0.0:0.6583:0.0:0.3417	3.650	0.07736	921	0.19240	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1928.33	42	chr9	133344197	.	C	T	1928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.568;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.33;SOR=0.708	GT:AD:DP:GQ:PL	0/1:53,76:129:99:1942,0,1214	18	0	1	0
chr9	133657197	133657197	C	T	exonic	DBH	.	nonsynonymous SNV	DBH:NM_000787:exon11:c.C1690T:p.H564Y	Dopamine beta-hydroxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0387505114198	.	.	8.253e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs750802720	3.694e-05	3.694e-05	4.22e-05	3.163e-05	0.0003	2.894e-05	2.592e-05	6.092e-05	2.956e-05	0	0	0	0	0	0.0003	4.317e-05	4.967e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.01	0.56456	D	0.055	0.46862	T	0.989	0.62824	D	0.854	0.60866	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	0.79	0.49068	T	-2.89	0.60665	D	0.79	0.78641	-0.5630	0.66289	T	0.290	0.66182	T	10	0.7973361	0.79188	D	0.038751	0.58406	D	0.254	0.56428	0.427	0.47350	0.618542639961	0.61546	0.8554747146868882	0.85510	0.316032876801	0.33877	0.644298434258	0.59175	T	0.413427	0.76729	T	0.00410759	0.52221	T	-0.0459724	0.67297	D	0.913207411766052	0.56939	D	0.892111	0.62800	D	0.52657956	0.68636	0.4091983	0.65215	0.52657956	0.68637	0.4091983	0.65215	-5.378	0.40707	T	0.458942262129018	0.54145	0.195	0.41557	B	.	.	4.311994	0.65921	24.9	0.99761525984265409	0.85091	0.97186	0.73196	D	AEFDBI	0.917380	0.88491	D	0.640698364606195	0.75767	6.364681	0.606372967357576	0.75403	6.304117	0.999999999922041	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	5.724000	0.68148	4.638000	0.44143	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	18.449	0.90643	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	1373.33	46	chr9	133657197	.	C	T	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.753;DP=828;ExcessHet=0;FS=2.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.12;SOR=0.483	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1387,0,1550	18	0	1	0
chr9	134034802	134034802	T	C	exonic	BRD3	.	nonsynonymous SNV	BRD3:NM_007371:exon11:c.A1964G:p.K655R	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.113695930641	0.0028	0.000399361	0.0023	0.0002	0.0013	0	0.0023	0.0036	0.0011	0.0004	0.0022962	355	154602	rs149702159	0.0023	0.0023	0.0023	0.0024	0.0027	0.0023	0.0022	0.0026	0.0026	0.0002	0.0009	3.826e-05	0	0.0032	0.0019	0.0027	0.0022	0.0005	0.0022	0.0022	0.0025	0.0019	0.0039	0.0020	0.0019	0.0035	0.0033	0.0004	0	0.0018	0.0003	0	0.0020	0.0034	0.0039	0.0014	0.0006	0.041	0.41915	D	0.102	0.38450	T	0.996	0.68779	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.930221	0.36951	D	2.335	0.66956	M	2.01	0.21291	T	-1.59	0.38345	N	0.406	0.44666	-0.9890	0.32853	T	0.127	0.43462	T	10	0.012832761	0.00274	T	0.113696	0.79229	D	0.098	0.28162	.	.	0.599699738176	0.59650	0.5583704437465223	0.55764	0.601662180277	0.55205	0.607578933239	0.53974	T	0.13696	0.46963	T	-0.471057	0.00837	T	-0.44625	0.28112	T	0.0430017011710464	0.04238	T	0.928457	0.73631	D	0.26906165	0.49978	0.20060849	0.44001	0.26906165	0.49978	0.20060849	0.44000	-7.956	0.60769	D	.	.	0.088	0.11749	B	.	.	3.475407	0.48508	22.6	0.99862722385700942	0.94093	0.96968	0.71932	D	AEFDBI	0.621714	0.60630	D	0.587195090051373	0.72373	5.795754	0.545689340327891	0.71097	5.603354	0.999456575916888	0.39788	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	5.308000	0.65557	4.099000	0.41853	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	14.009	0.64000	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	2427.33	33	chr9	134034802	.	T	C	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=860;ExcessHet=0;FS=2.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.362;SOR=0.859	GT:AD:DP:GQ:PL	0/1:132,102:234:99:2441,0,3024	18	0	1	0
chr9	137199456	137199456	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C1256T:p.P419L	Deafness, autosomal recessive 79, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	655956	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0015	0.00239617	0.0049	0.0008	0.0015	0	0.0004	0.0043	0.0043	0.0125	0.0024903	385	154602	rs149753507	0.0024	0.0024	0.0022	0.0026	0.0097	0.0023	0.0023	0.0092	0.0090	0.0002	0.0007	7.708e-05	5.1e-05	0.0003	0.0028	0.0023	0.0014	0.0097	0.0016	0.0016	0.0016	0.0017	0.0072	0.0015	0.0014	0.0054	0.0047	0.0006	0	0.0009	0	0	9.407e-05	0.0034	0.0026	0.0005	0.0072	0.003	0.68238	D	0.027	0.66756	D	0.959	0.55135	D	0.301	0.41090	B	0.131938	0.18605	N	0.451388	0.991112	0.24080	N	1.75	0.45442	L	.	.	.	-2.17	0.49018	N	0.229	0.25745	-0.9848	0.33879	T	0.078	0.31133	T	9	0.0038635433	0.00073	T	.	.	.	0.085	0.24743	.	.	0.134241683229	0.13084	0.3390038826880828	0.33813	.	.	0.406837284565	0.26019	T	0.013847	0.11897	T	-0.385213	0.02887	T	-0.319427	0.42637	T	0.0101801590738123	0.00138	T	0.679332	0.30283	T	0.047417782	0.08101	0.09815122	0.23389	0.06648775	0.14309	0.08869811	0.20696	-4.193	0.26650	T	0.5639274063526069	0.63149	0.103	0.18372	B	.;.	.;.	3.246163	0.44328	21.9	0.99679859853542863	0.79174	0.11340	0.16569	N	AEFDGBHCI	0.080201	0.16210	N	-0.185639922118141	0.33731	1.917103	-0.323299599580389	0.27347	1.516871	0.999997072495709	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.47	2.49	0.29274	1.018000	0.29604	8.154000	0.76719	0.586000	0.30580	0.001000	0.13787	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.757:0.243	7.942	0.29127	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	1	0	0	0	0	1	0	0.003033	0.000000	0.002732	0.005882	0.000000	0.000000	0.003067	0.003788	0.02632	1700.33	33	chr9	137199456	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=745;ExcessHet=0;FS=2.362;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.369;SOR=0.801	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1714,0,1233	18	0	1	0
chr10	364554	364554	G	A	exonic	DIP2C	.	nonsynonymous SNV	DIP2C:NM_014974:exon20:c.C2297T:p.P766L	.	425	1095	2	0	0	2	0.000912409	.	.	.	2113165	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.239	0.0142347444763	.	.	6.623e-05	0	0	0.0003	0	0	0	0.0003	5.17e-05	8	154602	rs756599363	2.805e-05	2.873e-05	1.906e-05	3.713e-05	0.0001	2.087e-05	1.878e-05	4.907e-05	3.165e-05	0.0001	2.236e-05	0	0.0001	1.874e-05	0	1.709e-05	6.623e-05	8.116e-05	4.6e-05	4.597e-05	3.854e-05	5.382e-05	0.0002	2.11e-05	1.527e-05	1.921e-05	1.032e-05	7.243e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	0.085	0.32769	T	0.148	0.32675	T	0.034	0.20480	B	0.072	0.28043	B	0.000001	0.84330	D	0.055424	1	0.81001	D	1.565	0.39561	L	1.62	0.28189	T	-5.85	0.88495	D	0.46	0.58287	-0.8339	0.53048	T	0.170	0.51069	T	10	0.30826235	0.48323	T	0.014235	0.34223	T	0.239	0.54358	0.509	0.60540	0.0675242888579	0.06100	0.7585018992873022	0.75798	0.800391264959	0.66211	0.622244119644	0.56046	T	0.223667	0.58789	T	-0.316442	0.07194	T	-0.427895	0.30173	T	0.189791797136057	0.19832	T	0.928707	0.73770	D	0.22213805	0.44806	0.27554426	0.53492	0.22213805	0.44806	0.27554426	0.53491	-7.913	0.60476	D	.	.	0.072	0.04889	B	.;.;.	.;.;.	3.686185	0.52496	23.2	0.96889493536271176	0.31492	0.99070	0.90786	D	AEFDBI	0.660663	0.63115	D	0.0775283866188559	0.45414	2.798485	0.156969510215979	0.47512	2.980342	0.999993937345593	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	6.828000	0.75100	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	18.970	0.92688	657	0.62240	AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-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	2046.33	34	chr10	364554	.	G	A	2046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.356;SOR=0.744	GT:AD:DP:GQ:PL	0/1:68,83:151:99:2060,0,1454	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	0/1:57,28:85:99:137,0,865	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	0/1:91,30:121:68:68,0,1458	17	0	2	0
chr10	19280171	19280171	G	T	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.G3204T:p.Q1068H	.	435	1069	17	1	0	19	0.00880853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	0.00439297	0.0124	0.0019	0.0067	0	0.0012	0.0165	0.0163	0.0149	0.0026455	409	154602	rs75389448	0.0102	0.0098	0.0101	0.0103	0.0159	0.0101	0.0100	0.0133	0.0123	0.0014	0.0042	0.0244	2.818e-05	0.0007	0.0159	0.0108	0.0110	0.0128	0.0071	0.0071	0.0072	0.0069	0.0145	0.0067	0.0066	0.0118	0.0108	0.0022	0.0274	0.0073	0.0282	0.0002	0.0003	0.0136	0.0097	0.0052	0.0145	0.112	0.28900	T	0.007	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.997036	0.22815	N	.	.	.	-3.85	0.95859	D	-2.82	0.59545	D	0.558	0.58287	0.471	0.90138	D	0.786	0.92754	D	5	0.009454995	0.00213	T	.	.	.	0.505	0.78662	.	.	0.597897742083	0.59469	0.5834241005166534	0.58271	.	.	.	.	.	.	.	.	-0.210391	0.19324	T	-0.0639573	0.66053	T	0.0241980826449093	0.01171	T	0.566943	0.20077	T	0.06680292	0.14408	0.2154254	0.46132	0.06680292	0.14407	0.2154254	0.46131	-7.011	0.54114	T	.	.	0.207	0.48766	B	.;.	.;.	3.344621	0.46102	22.2	0.99680637092256863	0.79241	0.85297	0.44417	D	AEFI	0.225199	0.34932	N	-0.0493374536242523	0.39632	2.340	-0.0648164291914355	0.36855	2.150277	5.54155902284327E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.66	0.41111	2.171000	0.42080	5.523000	0.48827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.2358:0.0:0.7642:0.0	9.029	0.35409	923	0.18507	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, 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	.	.	.	.	.	.	.	.	0.07895	3222.79	35	chr10	19280171	.	G	T	3222.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.813;DP=814;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.107;SOR=0.674	GT:AD:DP:GQ:PL	0/1:33,45:78:99:984,0,772	16	0	3	0
chr10	24533196	24533198	GAA	-	exonic	KIAA1217	.	nonframeshift deletion	KIAA1217:NM_001282769:exon11:c.2422_2424del:p.E812del,KIAA1217:NM_001282770:exon11:c.2422_2424del:p.E812del,KIAA1217:NM_001321681:exon12:c.2524_2526del:p.E846del,KIAA1217:NM_001282767:exon15:c.3265_3267del:p.E1093del,KIAA1217:NM_001282768:exon15:c.3268_3270del:p.E1094del,KIAA1217:NM_019590:exon16:c.3373_3375del:p.E1129del,KIAA1217:NM_001098500:exon17:c.3133_3135del:p.E1049del	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.00119808	0.0044	0.0020	0.0025	0.0015	0.0014	0.0056	0.0033	0.0057	0.0012294	32	26028	rs140819336	0.0061	0.0074	0.0061	0.0060	0.0069	0.0060	0.0059	0.0068	0.0067	0.0012	0.0023	0.0094	0.0010	0.0008	0.0046	0.0069	0.0059	0.0037	0.0036	0.0036	0.0040	0.0031	0.0062	0.0034	0.0033	0.0057	0.0055	0.0011	0	0.0016	0.0075	0.0006	0.0009	0	0.0062	0.0038	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025202	0.035354	0.019022	0.017544	0.000000	0.043103	0.030675	0.015152	0.02632	1299.29	33	chr10	24533195	.	GGAA	G	1299.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=707;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.3;ReadPosRankSum=-0.336;SOR=0.549	GT:AD:DP:GQ:PL	0/1:30,34:64:99:1313,0,1152	18	0	1	0
chr10	29532579	29532579	C	G	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.G1788C:p.Q596H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0292126663371	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs748559612	6.159e-06	6.157e-06	6.808e-06	5.504e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.298e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.035	0.56640	D	0.998	0.73220	D	0.962	0.70672	D	0.000005	0.62929	D	0.000000	0.997772	0.81001	D	2.535	0.73915	M	1.0	0.41392	T	-1.61	0.38734	N	0.775	0.77226	-0.7183	0.59546	T	0.236	0.60367	T	9	0.6080988	0.67289	D	0.029213	0.51767	D	0.224	0.52174	0.55	0.66576	0.548303776118	0.54485	0.5046366246775891	0.50385	0.694811052144	0.60787	0.505199491978	0.39553	T	0.113475	0.43054	T	-0.0471763	0.44874	T	-0.305542	0.44136	T	0.979324638843536	0.72774	D	0.955104	0.82903	D	0.35801262	0.57684	0.32969213	0.58846	0.35801262	0.57684	0.32969213	0.58845	-7.752	0.60790	D	.	.	0.599	0.68825	P	.;.	.;.	3.357238	0.46337	22.3	0.99762487347733242	0.85172	0.96297	0.68452	D	AEFBI	0.534356	0.55343	D	0.626673271479578	0.74866	6.206197	0.616311105189955	0.76122	6.433542	0.999959021305491	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.65	5.65	0.86881	1.793000	0.38397	1.089000	0.23963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9276:0.0:0.0724	13.954	0.63643	969	0.06854	.;.	.	.	.	.	.	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	1417.33	34	chr10	29532579	.	C	G	1417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.586;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.052;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,39:79:99:0|1:29532579_C_G:1431,0,1559:29532579	18	0	1	0
chr10	34317230	34317230	T	C	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon17:c.A2726G:p.K909R,PARD3:NM_001184790:exon18:c.A2681G:p.K894R,PARD3:NM_001184786:exon19:c.A2903G:p.K968R,PARD3:NM_001184788:exon19:c.A2813G:p.K938R,PARD3:NM_001184789:exon19:c.A2813G:p.K938R,PARD3:NM_001184794:exon19:c.A2813G:p.K938R,PARD3:NM_001184785:exon20:c.A2942G:p.K981R,PARD3:NM_001184787:exon20:c.A2951G:p.K984R,PARD3:NM_001184792:exon20:c.A2942G:p.K981R,PARD3:NM_001184793:exon20:c.A2849G:p.K950R,PARD3:NM_019619:exon20:c.A2951G:p.K984R	.	429	1084	9	0	0	9	0.00413413	.	.	.	3206031	PARD3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00537531025545	.	0.000599042	0.0008	0	0	0	0	0.0002	0	0.0047	0.0006274	97	154602	rs200130312	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	2.987e-05	0.0001	3.826e-05	0	0	0.0024	0.0002	0.0005	0.0052	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0006	0	0	0	0	0.0002	0	0.0044	0.439	0.15613	T	0.229	0.41405	T	0.001	0.14184	B	0.004	0.15521	B	0.014598	0.28488	N	0.404642	0.557243	0.32183	D	0.315	0.10303	N	1.45	0.32482	T	-1.24	0.33197	N	0.146	0.14763	-1.0451	0.15796	T	0.055	0.23375	T	10	0.0043361783	0.00088	T	0.005375	0.13771	T	0.031	0.07369	0.325	0.30711	0.306606720791	0.30265	0.0394300521374119	0.03889	0.0698374760876	0.07817	0.320736885071	0.13533	T	0.215996	0.57804	T	-0.622963	0.00105	T	-0.666666	0.07823	T	0.0116788487424321	0.00179	T	0.857714	0.56927	D	0.047509383	0.08131	0.049264885	0.07493	0.040747296	0.05873	0.04566475	0.06193	-3.607	0.29435	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.168555	0.27635	17.53	0.98762351355122246	0.45831	0.90862	0.52401	D	AEFBI	0.402359	0.47648	N	-0.391060253620372	0.25787	1.402419	-0.280967106806349	0.28725	1.603851	0.883927345974525	0.25684	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	0.801	0.17822	2.202000	0.42377	0.863000	0.22246	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3325:0.0:0.6675	8.232	0.30765	946	0.12043	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.003627	0.000000	0.000000	0.000000	0.000000	0.017241	0.012195	0.007576	0.02632	485.33	33	chr10	34317230	.	T	C	485.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=669;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.248;SOR=0.673	GT:AD:DP:GQ:PL	0/1:26,22:48:99:499,0,687	18	0	1	0
chr10	60076028	60076028	G	C	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C4853G:p.S1618C	.	421	1098	3	0	0	3	0.00136426	.	.	.	2261179	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0273037264495	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779374906	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	3.312e-05	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	0.957	0.54824	D	0.525	0.48375	P	0.001136	0.40136	N	0.000000	1	0.81001	D	1.61	0.41143	L	-0.43	0.69657	T	-1.4	0.34596	N	0.208	0.23125	-0.4371	0.70827	T	0.307	0.67777	T	10	0.29258186	0.46835	T	0.027304	0.50134	D	0.231	0.53208	0.217	0.13788	0.550813894442	0.54739	0.30575993071296803	0.30488	0.246670485079	0.27206	0.476139724255	0.35526	T	0.356321	0.72319	T	-0.0351973	0.46659	T	-0.272849	0.47530	T	0.831864476203918	0.48676	D	0.863014	0.55864	D	0.26558423	0.49627	0.23225844	0.48381	0.26558423	0.49627	0.23225844	0.48380	-7.681	0.58875	D	.	.	0.093	0.14062	B	.	.	4.488185	0.70083	25.5	0.98442352811797407	0.41519	0.98558	0.84076	D	AEFBI	0.778661	0.71109	D	0.471950636921463	0.65458	4.825158	0.482399630070296	0.66825	5.002685	0.999999999989654	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	6.887000	0.75425	11.837000	0.97708	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.221	0.98326	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1919.33	106	chr10	60076028	.	G	C	1919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.794;DP=922;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.353;SOR=0.693	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1933,0,2427	18	0	1	0
chr10	73193536	73193536	C	G	exonic	FAM149B1	.	nonsynonymous SNV	FAM149B1:NM_173348:exon5:c.C485G:p.P162R	.	559	960	3	0	0	3	0.00156006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0423094213568	.	0.000998403	0.0014	0	0	0	0	0.0005	0	0.0033	0.0002911	45	154602	rs533399071	0.0005	0.0005	0.0004	0.0006	0.0031	0.0005	0.0005	0.0027	0.0026	0.0002	0.0008	3.973e-05	0	0	0.0031	0.0003	0.0008	0.0030	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0.0002	0	0.0068	0.0003	0.0019	0.0035	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	0.000044	0.53742	D	0.124834	0.973086	0.38996	D	2.365	0.68172	M	0.83	0.47815	T	-2.48	0.54059	N	0.311	0.35088	-0.4840	0.69224	T	0.280	0.65229	T	10	0.010787666	0.00239	T	0.042309	0.60393	D	0.154	0.40340	.	.	0.346992582518	0.34303	0.3891334639910722	0.38828	.	.	0.398799300194	0.24901	T	0.027432	0.20093	T	-0.356426	0.04336	T	-0.289373	0.45839	T	0.0392468646168709	0.03554	T	0.853715	0.53946	D	0.292042	0.52182	0.2112638	0.45547	0.292042	0.52181	0.2112638	0.45546	-3.586	0.17654	T	.	.	0.126	0.26669	B	.	.	3.684645	0.52465	23.2	0.99706019321064443	0.81005	0.88357	0.48248	D	AEFBI	0.187503	0.31480	N	0.470258467390351	0.65360	4.812848	0.380546406991336	0.60367	4.223381	0.226025816415123	0.18411	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.9	4.9	0.63643	1.798000	0.38449	5.783000	0.49817	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.538000	0.29892	0.0:1.0:0.0:0.0	13.593	0.61435	896	0.25515	Protein of unknown function DUF3719	.	.	.	.	.	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	0.004975	0.000000	0.000000	0.000000	0.000000	0.000000	0.022989	0.013514	0.02632	1018.33	33	chr10	73193536	.	C	G	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.156;DP=729;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.828;SOR=0.507	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1032,0,1364	18	0	1	0
chr10	73682794	73682794	C	T	exonic	AGAP5	.	nonsynonymous SNV	AGAP5:NM_001144000:exon5:c.G397A:p.V133I	.	.	.	.	.	.	.	.	0.0053	0.214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767228380	8.22e-06	8.893e-06	5.453e-06	1.101e-05	0.0002	4.38e-06	3.46e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	4.97e-05	1.16e-05	6.587e-06	6.565e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.005	0.65419	D	0.281	0.21612	T	0.231	0.30614	B	0.055	0.25995	B	0.785496	0.09438	N	0.891453	0.99989	0.19853	N	1.05	0.26816	L	-2.35	0.88066	D	-0.03	0.10308	N	0.051	0.07125	-0.5765	0.65756	T	0.486	0.80400	T	10	0.09412351	0.16710	T	0.02123	0.43966	T	0.147	0.38986	0.16	0.06396	0.149567049428	0.14543	0.007783333594523953	0.00743	.	.	0.739842653275	0.72950	T	0.001035	0.00564	T	-0.0671759	0.41778	T	-0.33427	0.40992	T	0.086805570137387	0.10834	T	0.380262	0.09172	T	0.062351875	0.13014	0.055824224	0.09864	0.062351875	0.13013	0.055824224	0.09864	-2.901	0.09153	T	.	.	0.091	0.18910	B	.;.;.	.;.;.	2.382869	0.30587	18.48	0.9770203571687055	0.35442	0.42436	0.26877	N	AEFI	0.123024	0.23843	N	-0.522655681890417	0.21349	1.13232	-0.500091247228941	0.22151	1.201771	1.32304585837057E-4	0.05486	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	1.65	1.65	0.23015	1.376000	0.33912	3.369000	0.37918	-0.768000	0.03469	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	9.345	0.37265	693	0.58582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1137.33	34	chr10	73682794	.	C	T	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.888;DP=752;ExcessHet=0;FS=6.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.75;MQRankSum=-2.325;QD=14.4;ReadPosRankSum=-0.654;SOR=1.362	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,32:79:99:0|1:73682785_C_T:1151,0,1877:73682785	18	0	1	0
chr10	88770944	88770944	G	A	exonic	LIPN	.	nonsynonymous SNV	LIPN:NM_001102469:exon7:c.G772A:p.E258K	Ichthyosis, congenital, autosomal recessive 8, Autosomal recessive	10	1499	13	0	0	13	0.0043175	.	.	.	701461	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.231	.	0.0014	0.000998403	0.0030	0	0.0025	0.0015	0.0057	0.0048	0.0108	0.0005	0.0013842	214	154602	rs150167048	0.0014	0.0014	0.0014	0.0014	0.0095	0.0014	0.0013	0.0075	0.0068	0.0004	0.0006	0.0006	0.0002	0.0017	0.0095	0.0015	0.0014	0.0010	0.0015	0.0015	0.0015	0.0014	0.0024	0.0013	0.0013	0.0021	0.0020	0.0003	0	0.0007	0.0003	0.0002	0.0021	0.0102	0.0024	0.0009	0.0017	0.059	0.37536	T	0.193	0.28210	T	0.209	0.29944	B	0.041	0.23986	B	0.001031	0.40562	N	0.175952	0.992575	0.23860	N	0.93	0.23535	L	0.12	0.61089	T	-0.53	0.16393	N	0.532	0.56058	-0.9787	0.35299	T	0.118	0.41560	T	10	0.010276228	0.00229	T	.	.	.	0.231	0.53208	.	.	0.784441971529	0.78244	0.6877981859306134	0.68719	0.0670724899157	0.07489	0.523942112923	0.42182	T	0.002696	0.02085	T	-0.290291	0.09608	T	-0.194375	0.55180	T	0.0125236646394541	0.00207	T	0.676232	0.28483	T	0.14883462	0.33961	0.1462381	0.34652	0.14883462	0.33960	0.1462381	0.34651	-2.297	0.04538	T	.	.	0.161	0.35622	B	.	.	3.229852	0.44041	21.9	0.99584098895627982	0.73218	0.34985	0.25196	N	AEFBI	0.063789	0.12349	N	-0.145020732070787	0.35447	2.036138	-0.0330214957094264	0.38234	2.249653	0.954593183267811	0.28140	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	2.429000	0.44415	5.432000	0.48595	0.676000	0.76740	0.793000	0.29632	1.000000	0.68203	0.783000	0.37026	0.0962:0.0:0.9038:0.0	9.303	0.37017	835	0.38313	Alpha/beta hydrolase fold-1	.	.	.	.	.	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	0.004049	0.000000	0.002717	0.005917	0.000000	0.000000	0.006135	0.003817	0.02632	385.33	36	chr10	88770944	.	G	A	385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.492;DP=708;ExcessHet=0;FS=1.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.099;SOR=0.856	GT:AD:DP:GQ:PL	0/1:15,16:31:99:399,0,391	18	0	1	0
chr10	94724396	94724396	T	C	exonic	CYP2C18	.	nonsynonymous SNV	CYP2C18:NM_001128925:exon6:c.T835C:p.C279R,CYP2C18:NM_000772:exon7:c.T1012C:p.C338R	.	1	1509	11	1	0	13	0.00428901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00267346954588	0.0018	0.000998403	0.0016	0.0008	0.0004	0	0.0009	0.0024	0	0.0007	0.0016559	256	154602	rs41286882	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0003	0.0006	7.656e-05	0	0.0006	0.0012	0.0030	0.0021	0.0006	0.0016	0.0016	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0004	0	0.0012	0	0	0.0004	0	0.0027	0.0028	0.0008	0.032	0.44694	D	0.649	0.07244	T	0.782	0.44333	P	0.298	0.40966	B	0.756756	0.06516	U	1.123920	0.999991	0.08975	N	2.11	0.58565	M	2.76	0.11515	T	-10.29	0.99038	D	0.142	0.16028	-0.9938	0.31617	T	0.041	0.17446	T	10	0.017686784	0.00379	T	0.002673	0.05463	T	0.065	0.18881	.	.	0.24896430686	0.24499	0.1521464925188993	0.15136	0.137498292665	0.15505	.	.	.	0.248094	0.61784	T	-0.622496	0.00106	T	-0.669054	0.07669	T	0.0832650861092811	0.10399	T	0.591441	0.21800	T	0.7774615	0.82498	0.82562983	0.89901	0.7774615	0.82500	0.82562983	0.89902	-8.594	0.66823	D	.	.	0.181	0.39373	B	.;.	.;.	1.517705	0.19489	14.29	0.59530458507303008	0.06246	0.07847	0.13840	N	AEFI	0.727131	0.67557	D	-0.437714638283363	0.24159	1.302496	-0.543389764021369	0.20982	1.132903	1.65056732015857E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.15	1.65	0.23015	-0.121000	0.10618	-0.597000	0.08290	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.261000	0.23543	0.5366:0.0:0.0:0.4634	7.381	0.26029	535	0.73288	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2781.33	34	chr10	94724396	.	T	C	2781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.039;DP=880;ExcessHet=0;FS=0.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-1.537;SOR=0.643	GT:AD:DP:GQ:PL	0/1:125,117:242:99:2795,0,3348	18	0	1	0
chr10	94775416	94775416	T	C	exonic	CYP2C19	.	nonsynonymous SNV	CYP2C19:NM_000769:exon3:c.T358C:p.W120R	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive	1	1509	11	1	0	13	0.00428901	.	.	.	47949	CYP2C19:_no_function|not_provided	.|MedGen:C3661900	practice_guideline	drug_response	.	.	.	.	.	.	.	.	0.440	0.0196703400467	0.0018	0.000998403	0.0015	0.0008	0.0004	0	0.0009	0.0024	0	0.0007	0.0016429	254	154602	rs41291556	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0003	0.0007	7.652e-05	0	0.0006	0.0012	0.0030	0.0022	0.0006	0.0016	0.0016	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0004	0	0.0013	0	0	0.0004	0	0.0027	0.0028	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	U	0.000000	0.702029	0.30094	N	.	.	.	-1.07	0.76948	T	-13.6	0.99955	D	0.945	0.95256	0.281	0.87257	D	0.709	0.89991	D	10	0.5073736	0.61896	D	0.01967	0.42091	T	0.440	0.74377	0.839	0.94541	0.842295892788	0.84078	0.6521142545272207	0.65147	0.0197886337847	0.01940	0.475302100182	0.35410	T	0.470625	0.80367	T	-0.0492393	0.44563	T	0.153444	0.80401	D	0.175412535667419	0.18941	T	0.694731	0.30434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.940	0.88427	P	.;.	.;.	4.123924	0.61658	24.4	0.99157680339030074	0.54015	0.96614	0.70026	D	AEFI	0.799856	0.72600	D	0.632039619910467	0.75210	6.266102	0.432045652652883	0.63571	4.59363	3.73823349493624E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.74	2.46	0.29032	5.240000	0.65201	3.427000	0.38290	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:0.2054:0.7946	8.044	0.29697	552	0.72024	.;.	.	.	.	.	.	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	0.001531	0.000000	0.001359	0.003106	0.000000	0.000000	0.000000	0.000000	0.02632	2781.33	38	chr10	94775416	.	T	C	2781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.622;DP=901;ExcessHet=0;FS=0.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.17;MQRankSum=-1.662;QD=11.79;ReadPosRankSum=-0.089;SOR=0.629	GT:AD:DP:GQ:PL	0/1:118,118:236:99:2795,0,3300	18	0	1	0
chr10	94947838	94947838	A	G	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon4:c.A541G:p.I181V	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00404700464786	.	.	3.3e-05	0	8.709e-05	0	0	2.998e-05	0	6.056e-05	2.59e-05	4	154602	rs774143845	3.079e-05	3.078e-05	2.315e-05	3.851e-05	0.0003	2.347e-05	2.095e-05	6.109e-05	4.042e-05	0	0	0	0	0	0.0003	3.058e-05	0	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-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	0.318	0.13654	T	0.37	0.16473	T	0.01	0.15535	B	0.057	0.26280	B	0.097497	0.20025	U	0.366738	0.943085	0.26732	N	0.595	0.15482	N	-0.31	0.68030	T	-0.34	0.12661	N	0.144	0.14480	-0.9499	0.40989	T	0.184	0.53285	T	10	0.09999886	0.18182	T	0.004047	0.09650	T	0.045	0.12272	0.61	0.74300	0.568997365865	0.56564	0.031696239182818005	0.03118	0.0118324598183	0.01115	0.38568854332	0.23060	T	0.061914	0.31777	T	-0.375877	0.03307	T	-0.59617	0.13135	T	0.028993475019697	0.01836	T	0.575442	0.20674	T	0.25298283	0.48317	0.0763696	0.16907	0.25298283	0.48317	0.0763696	0.16906	-4.288	0.28008	T	.	.	0.098	0.16143	B	.	.	0.859292	0.12315	8.857	0.9316095471348621	0.22813	0.08642	0.14542	N	AEFI	0.667602	0.63566	D	-0.600174462826236	0.18939	0.987351	-0.566522963782546	0.20368	1.097068	1.26125153158595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.55	1.12	0.19700	-0.214000	0.09296	-0.842000	0.07213	-0.051000	0.17024	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.6277:0.0:0.3723:0.0	5.218	0.14678	747	0.52260	.	.	.	.	.	.	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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	546.33	34	chr10	94947838	.	A	G	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.432;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.53;SOR=0.735	GT:AD:DP:GQ:PL	0/1:28,26:54:99:560,0,695	18	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M,ENTPD7:NM_020354:exon3:c.G85A:p.V29M,ENTPD7:NM_001349962:exon4:c.G91A:p.V31M	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.014620	0.000000	0.017241	0.006098	0.007576	0.05263	1878.83	34	chr10	99661522	.	G	A	1878.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.073;DP=766;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.195;SOR=0.735	GT:AD:DP:GQ:PL	0/1:42,25:67:99:597,0,1097	17	0	2	0
chr10	100075969	100075969	G	T	exonic	CPN1	.	nonsynonymous SNV	CPN1:NM_001308:exon2:c.C362A:p.T121K	Carboxypeptidase N deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.0576831955681	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763408059	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.087541	1	0.81001	D	3.93	0.96317	H	2.59	0.13317	T	-5.72	0.87531	D	0.865	0.86191	-0.7864	0.55938	T	0.133	0.44661	T	10	0.96264994	0.95695	D	0.057683	0.67052	D	0.524	0.79825	0.861	0.95829	0.657455092868	0.65459	0.9463740494440179	0.94619	1.34284182334	0.83896	0.57057094574	0.48759	T	0.475107	0.80628	T	0.146421	0.68932	D	-0.0274529	0.68537	D	0.998368561267853	0.93945	D	0.965203	0.87125	D	0.98247874	0.99293	0.9633136	0.99146	0.98247874	0.99293	0.9633136	0.99146	-10.046	0.74187	D	.	.	0.825	0.78457	P	.	.	4.532926	0.71174	25.6	0.99272503131233092	0.57593	0.98827	0.87375	D	AEFDBI	0.941583	0.94503	D	0.733991702418545	0.81862	7.622285	0.622515413709132	0.76577	6.51699	0.999984184770097	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.74	4.84	0.62125	8.151000	0.89575	7.544000	0.60141	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0699:0.0:0.9301:0.0	14.634	0.68280	863	0.32847	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	34	chr10	100075969	.	G	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=743;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.463;SOR=0.586	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1686,0,1055	18	0	1	0
chr10	103347250	103347250	C	G	exonic	PCGF6	.	nonsynonymous SNV	PCGF6:NM_001011663:exon5:c.G661C:p.V221L	.	.	.	.	.	.	.	.	.	.	.	2229435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00905385686985	.	.	3.309e-05	0	0	0	0	6.014e-05	0	0	2.59e-05	4	154602	rs748743394	2.682e-05	2.668e-05	2.602e-05	2.762e-05	3.256e-05	2.008e-05	1.763e-05	2.384e-05	2.116e-05	0	0	0	0	0	0	3.256e-05	4.985e-05	0	5.257e-05	5.91e-05	6.424e-05	4.036e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.192	0.20988	T	0.508	0.10893	T	0.702	0.41889	P	0.182	0.35926	B	0.000000	0.84330	D	0.000000	0.99996	0.81001	D	2.035	0.55589	M	1.42	0.33189	T	-0.96	0.25551	N	0.3	0.33904	-1.1000	0.04091	T	0.055	0.23262	T	10	0.14506888	0.27522	T	0.009054	0.23821	T	0.116	0.32463	0.189	0.09907	0.56524285216	0.56187	0.3618402101151388	0.36098	0.282977089888	0.30750	0.657128453255	0.60999	T	0.029053	0.20905	T	-0.167472	0.25619	T	-0.347887	0.39448	T	0.420103996992111	0.29694	T	0.667533	0.27667	T	0.24228393	0.47154	0.24066927	0.49446	0.24228393	0.47154	0.24066927	0.49445	-7.882	0.60263	D	.	.	0.782	0.76447	P	.	.	3.227414	0.44003	21.8	0.98578214976258938	0.43206	0.98310	0.81501	D	AEFBI	0.417714	0.48564	N	0.115081624794785	0.47166	2.94616	0.238619980083266	0.52005	3.378383	0.99293010694146	0.33023	0.475973	0.10046	0	0.601575	0.49859	0	0.670488	0.60580	0	0.221012	0.04332	2	.	.	5.4	5.4	0.77957	3.740000	0.54802	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9223:0.0:0.0777	13.144	0.58869	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	579.33	33	chr10	103347250	.	C	G	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=624;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-1.143;SOR=0.544	GT:AD:DP:GQ:PL	0/1:16,19:35:99:593,0,472	18	0	1	0
chr10	119037244	119037244	C	T	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon21:c.G3794A:p.R1265Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00850693799295	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174804378	1.026e-05	1.026e-05	1.225e-05	8.25e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	8.093e-06	3.311e-05	1.159e-05	1.315e-05	1.313e-05	0	2.693e-05	6.551e-05	2.18e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.203	0.27325	T	0.994	0.66517	D	0.921	0.65636	D	0.001651	0.38382	N	0.000000	0.995144	0.42562	D	0.63	0.15941	N	1.53	0.30401	T	-0.55	0.16799	N	0.543	0.57006	-1.0864	0.06155	T	0.126	0.43112	T	10	0.2568922	0.43099	T	0.008507	0.22507	T	0.160	0.41473	0.347	0.34274	0.372491666437	0.36864	0.07149881157349686	0.07086	0.567273716107	0.52994	0.55076611042	0.45965	T	0.01653	0.13648	T	-0.151997	0.27999	T	-0.359255	0.38138	T	0.513543546199799	0.33127	D	0.884911	0.60954	D	0.08423729	0.19489	0.06882108	0.14421	0.08423729	0.19489	0.06882108	0.14420	-7.326	0.56380	T	.	.	0.147	0.32445	B	.;.	.;.	3.771797	0.54182	23.5	0.99857827495488261	0.93639	0.92661	0.56239	D	AEFDBHCI	0.690162	0.65058	D	0.492226041116101	0.66633	4.975671	0.511672402719298	0.68774	5.266747	0.999999999851708	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	4.548000	0.60429	7.656000	0.63963	0.594000	0.32500	0.999000	0.42656	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	17.606	0.87939	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1564.33	43	chr10	119037244	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.21;DP=891;ExcessHet=0;FS=1.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.588;SOR=0.844	GT:AD:DP:GQ:PL	0/1:80,69:149:99:1578,0,1799	18	0	1	0
chr10	121899882	121899882	G	C	exonic	ATE1	.	nonsynonymous SNV	ATE1:NM_001288734:exon6:c.C581G:p.T194R,ATE1:NM_001001976:exon7:c.C926G:p.T309R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00543411505215	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	.	2.741e-06	2.736e-06	2.728e-06	2.756e-06	5.981e-05	6.4e-07	4.3e-07	9.91e-06	3.7e-06	5.981e-05	0	0	0	0	0	1.801e-06	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	0.038	0.42783	D	0.153	0.32675	T	0.004	0.12183	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.345	0.03330	N	.	.	.	1.74	0.00737	N	0.253	0.29544	-1.0181	0.24334	T	0.045	0.19194	T	8	0.12172806	0.23081	T	0.005434	0.13954	T	0.061	0.17616	0.463	0.53242	0.165150595986	0.16160	0.24505906988835796	0.24419	.	.	0.320894896984	0.13558	T	0.066007	0.32834	T	-0.106382	0.35367	T	-0.390587	0.34483	T	0.167603313922882	0.18416	T	0.905509	0.66687	D	0.04710352	0.07995	0.080517456	0.18220	0.04710352	0.07994	0.080517456	0.18219	-1.724	0.02293	T	.	.	0.076	0.05935	B	.;.	.;.	2.686175	0.35051	19.80	0.92774479481960614	0.22289	0.89031	0.49258	D	AEFDGBIJ	0.208904	0.33495	N	-0.331839279014664	0.27945	1.53733	-0.189845790511206	0.31908	1.810264	0.992824657661839	0.32982	0.732398	0.92422	0	0.546412	0.12157	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.17	3.87	0.43823	4.268000	0.58681	4.304000	0.42949	-1.595000	0.00900	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.1145:0.0:0.1288:0.7566	9.771	0.39759	934	0.15400	N-end rule aminoacyl transferase, C-terminal;N-end rule aminoacyl transferase, 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	.	.	.	.	.	.	.	.	0.02632	532.33	33	chr10	121899882	.	G	C	532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=2.02;SOR=0.593	GT:AD:DP:GQ:PL	0/1:20,21:41:99:546,0,411	18	0	1	0
chr10	122083955	122083955	C	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C1455A:p.D485E,TACC2:NM_001291877:exon4:c.C1455A:p.D485E,TACC2:NM_206862:exon4:c.C1455A:p.D485E	.	415	1056	46	5	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0022	0.00299521	0.0037	0.0007	0.0031	0.0001	0.0003	0.0034	0.0055	0.0104	0.0034864	539	154602	rs145676536	0.0033	0.0033	0.0030	0.0036	0.0120	0.0033	0.0032	0.0097	0.0090	0.0004	0.0028	0.0007	7.557e-05	0.0005	0.0120	0.0032	0.0033	0.0098	0.0025	0.0025	0.0023	0.0026	0.0110	0.0023	0.0022	0.0087	0.0078	0.0007	0	0.0020	0.0003	0.0002	0.0005	0.0068	0.0035	0.0057	0.0110	0.008	0.58626	D	0.126	0.35205	T	0.002	0.09854	B	0.002	0.06944	B	0.262279	0.15291	N	0.547859	1	0.08975	N	0.345	0.11182	N	4.17	0.02815	T	-0.1	0.08495	N	0.031	0.02366	-0.9281	0.44415	T	0.004	0.01192	T	10	0.0039937794	0.00077	T	.	.	.	0.089	0.25827	0.104	0.01698	0.458734620958	0.45498	0.030146240398800345	0.02963	0.0937766726545	0.10591	0.249824970961	0.03749	T	0.015022	0.12680	T	-0.725202	0.00026	T	-0.807087	0.01731	T	0.00369449383288313	0.00039	T	0.534247	0.17838	T	0.067040615	0.14481	0.0355286	0.02821	0.067040615	0.14480	0.0355286	0.02820	-2.931	0.09457	T	.	.	0.182	0.39545	B	.;.;.;.;.	.;.;.;.;.	0.702582	0.10711	7.406	0.93754106037824991	0.23697	0.12649	0.17397	N	AEFDBI	.	.	.	-0.892877548156124	0.11010	0.529115	-0.868507421659128	0.12844	0.6630197	0.614784024267148	0.21834	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.13	2.09	0.26154	-0.185000	0.09679	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1566:0.5969:0.1531:0.0934	4.328	0.10488	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.005435	0.008772	0.000000	0.000000	0.009146	0.041667	0.07895	8027.77	82	chr10	122083955	.	C	A	8027.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.64;DP=1342;ExcessHet=0;FS=3.038;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.96;ReadPosRankSum=-0.239;SOR=0.866	GT:AD:DP:GQ:PL	0/1:112,98:210:99:2666,0,3032	17	1	1	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	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	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.05263	2674.83	33	chr10	122216727	.	C	T	2674.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.57;DP=865;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.151;SOR=0.666	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1036,0,1355	17	0	2	0
chr10	122415881	122415881	G	T	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon5:c.G347T:p.G116V,PLEKHA1:NM_001377253:exon6:c.G347T:p.G116V,PLEKHA1:NM_001377255:exon6:c.G347T:p.G116V,PLEKHA1:NM_001377257:exon6:c.G347T:p.G116V,PLEKHA1:NM_001001974:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377237:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377241:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377245:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377250:exon7:c.G482T:p.G161V,PLEKHA1:NM_001377254:exon7:c.G347T:p.G116V,PLEKHA1:NM_001377258:exon7:c.G491T:p.G164V,PLEKHA1:NM_001195608:exon8:c.G491T:p.G164V,PLEKHA1:NM_001330178:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377230:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377235:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377238:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377240:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377244:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377246:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377247:exon8:c.G458T:p.G153V,PLEKHA1:NM_001377248:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377249:exon8:c.G431T:p.G144V,PLEKHA1:NM_001377251:exon8:c.G458T:p.G153V,PLEKHA1:NM_001377256:exon8:c.G365T:p.G122V,PLEKHA1:NM_021622:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377232:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377234:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377242:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377243:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377231:exon10:c.G491T:p.G164V	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00457453007992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.55530	D	0.131	0.34596	T	0.009	0.15093	B	0.004	0.10090	B	0.002833	0.35868	N	0.328921	0.999997	0.58761	D	0	0.06538	N	3.39	0.06681	T	-2.19	0.53898	N	0.353	0.40364	-1.0868	0.06084	T	0.037	0.15899	T	10	0.166976	0.31166	T	0.004575	0.11283	T	0.055	0.15663	0.325	0.30711	0.3349148499	0.33108	0.20879643830371372	0.20795	0.580106300526	0.53867	0.403824061155	0.25600	T	0.568022	0.85651	D	-0.138996	0.30051	T	-0.437434	0.29097	T	0.418695428009766	0.29642	T	0.89491	0.63503	D	0.24478781	0.47431	0.25810543	0.51538	0.24478781	0.47431	0.25810543	0.51537	-4.647	0.33453	T	.	.	0.083	0.11172	B	.;.;.;.;.	.;.;.;.;.	2.938025	0.39058	20.9	0.96960703087339106	0.31775	0.96652	0.70223	D	AEFBI	0.451285	0.50533	N	-0.124723651600792	0.36319	2.097657	0.0433247332069766	0.41750	2.513533	0.978967121053582	0.29977	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.86	3.89	0.44098	2.550000	0.45472	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.3824:0.6175:0.0	15.732	0.77582	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	.	.	.	.	.	.	.	.	0.02632	707.33	33	chr10	122415881	.	G	T	707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.82;DP=676;ExcessHet=0;FS=4.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.36;SOR=0.313	GT:AD:DP:GQ:PL	0/1:38,32:70:99:721,0,939	18	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	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|1:89,8:97:68:0|1:124989533_G_A:68,0,3649:124989533	1	0	18	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|1:119,11:130:93:0|1:124994523_G_A:93,0,4746:124994523	1	0	18	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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	0/1:128,20:148:88:88,0,3815	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|1:134,21:155:99:0|1:124994577_C_A:478,0,5476:124994577	0	0	19	0
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,8:112:23:0|1:125003062_T_A:23,0,4317:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,8:112:23:0|1:125003062_T_A:23,0,4317:125003062	4	0	7	8
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039033	.	T	A	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.557;DP=1277;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.85;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.955;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,10:144:17:0|1:125039033_T_A:17,0,5576:125039033	15	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039035	.	T	C	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.641;DP=1268;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.84;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.658;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,10:144:17:0|1:125039033_T_A:17,0,5576:125039033	15	0	4	0
chr10	126004975	126004975	T	C	exonic	FANK1	.	nonsynonymous SNV	FANK1:NM_001363549:exon7:c.T613C:p.C205R,FANK1:NM_145235:exon7:c.T631C:p.C211R,FANK1:NM_001350939:exon8:c.T709C:p.C237R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0770433906192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.373	0.16425	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.755	0.01709	N	0.74	0.61798	T	-3.44	0.67477	D	0.883	0.88137	-0.6421	0.63056	T	0.199	0.55400	T	10	0.8332908	0.82488	D	0.077043	0.72676	D	0.401	0.71479	0.694	0.83126	0.725089307665	0.72265	0.7988575990482343	0.79838	0.847208333922	0.68373	0.657010436058	0.60982	T	0.037886	0.32783	T	0.269779	0.80421	D	0.149742	0.80168	D	0.975875616073608	0.71128	D	0.794321	0.77472	T	0.75656754	0.81251	0.6525042	0.79663	0.75656754	0.81253	0.6525042	0.79664	-8.454	0.64124	D	.	.	0.885	0.82891	P	.;.;.	.;.;.	4.056432	0.60165	24.2	0.99497749912825117	0.67859	0.90093	0.51004	D	AEFGI	0.761068	0.69889	D	0.327187792220189	0.57547	3.922543	0.413637316673822	0.62413	4.456327	0.999929464124752	0.46280	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.79	5.79	0.91751	3.869000	0.55775	7.799000	0.69096	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.118	0.72094	964	0.07719	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1956.33	40	chr10	126004975	.	T	C	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.026;DP=883;ExcessHet=0;FS=3.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.42;SOR=0.475	GT:AD:DP:GQ:PL	0/1:54,84:138:99:1970,0,1324	18	0	1	0
chr10	128107510	128107510	G	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.C3250T:p.P1084S,MKI67:NM_002417:exon13:c.C4330T:p.P1444S	.	415	1054	50	3	0	56	0.025878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0019	0.00638978	0.0053	0.0006	0.0015	0	0.0003	0.0030	0.0099	0.0250	0.0047541	735	154602	rs150235556	0.0041	0.0041	0.0034	0.0048	0.0250	0.0040	0.0040	0.0241	0.0238	0.0005	0.0015	0.0039	5.038e-05	0.0002	0.0154	0.0029	0.0047	0.0250	0.0025	0.0025	0.0021	0.0029	0.0226	0.0023	0.0022	0.0192	0.0179	0.0005	0	0.0025	0.0020	0	9.452e-05	0.0102	0.0028	0.0033	0.0226	0.549	0.06606	T	0.533	0.11115	T	0.274	0.31942	B	0.095	0.34693	B	.	.	.	.	1	0.08975	N	1.2	0.30300	L	4.45	0.02121	T	-0.55	0.19509	N	0.045	0.02559	-0.9208	0.45445	T	0.004	0.01192	T	9	0.0024415255	0.00036	T	.	.	.	0.010	0.01040	.	.	0.0806252709748	0.07271	0.06821357982089558	0.06759	0.0705515030347	0.07905	0.20219168067	0.00523	T	0.006402	0.05833	T	-0.709069	0.00032	T	-0.772381	0.02690	T	0.00125653303169228	0.00012	T	0.392661	0.09777	T	0.017183786	0.00253	0.035346843	0.02770	0.017183786	0.00253	0.035346843	0.02769	-4.658	0.35317	T	.	.	0.125	0.26294	B	.;.	.;.	-0.793587	0.01119	0.051	0.63563244844952571	0.07257	0.05960	0.11919	N	AEFBCI	0.033499	0.03990	N	-1.40033669219104	0.02636	0.1166865	-1.53845965137984	0.02056	0.09401566	0.998780027204579	0.37667	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.15	-4.92	0.02848	-2.506000	0.01038	-12.966000	0.00488	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3384:0.0:0.2863:0.3753	3.504	0.07244	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	0.013595	0.000000	0.013587	0.026316	0.000000	0.008621	0.003049	0.015152	0.02632	3481.33	191	chr10	128107510	.	G	A	3481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.163;DP=3188;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.292;SOR=0.667	GT:AD:DP:GQ:PL	0/1:147,145:292:99:3495,0,3795	18	0	1	0
chr10	133270502	133270503	AT	-	exonic	ADAM8	.	frameshift deletion	ADAM8:NM_001164490:exon15:c.1525_1526del:p.M509Vfs*35,ADAM8:NM_001109:exon16:c.1642_1643del:p.M548Vfs*35,ADAM8:NM_001164489:exon16:c.1642_1643del:p.M548Vfs*35	.	415	1092	15	0	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.000798722	0.0025	0.0012	0.0008	0.0022	0.0005	0.0038	0.0023	0.0005	0.0003842	10	26028	rs375995290	0.0025	0.0025	0.0025	0.0025	0.0061	0.0024	0.0024	0.0045	0.0039	0.0011	0.0012	0.0144	0.0010	0.0006	0.0061	0.0025	0.0032	0.0007	0.0026	0.0026	0.0028	0.0023	0.0032	0.0024	0.0023	0.0029	0.0027	0.0011	0.0186	0.0023	0.0127	0.0025	0.0007	0.0102	0.0032	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.008152	0.014620	0.000000	0.000000	0.000000	0.000000	0.05263	1936.77	37	chr10	133270501	.	CAT	C	1936.77	.	AC=2;AF=0.053;AN=38;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.15;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1964,133,0	18	1	0	0
chr10	133352030	133352030	A	T	exonic	PRAP1	.	nonsynonymous SNV	PRAP1:NM_001145201:exon4:c.A152T:p.E51V,PRAP1:NM_145202:exon4:c.A152T:p.E51V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0247723528381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.99	0.63424	D	0.844	0.60373	P	0.724843	0.06335	N	1.212120	1	0.08975	N	1.585	0.39878	L	1.19	0.37578	T	-5.36	0.84811	D	0.386	0.43610	-0.9836	0.34164	T	0.137	0.45413	T	10	0.23150074	0.40125	T	0.024772	0.47756	T	0.114	0.32008	0.275	0.22687	0.32980341726	0.32591	0.31151180261656813	0.31064	0.379746466743	0.39358	.	.	.	0.104317	0.41377	T	-0.0960816	0.37072	T	-0.375791	0.36215	T	0.547278761863708	0.34375	D	0.486851	0.14885	T	0.18460125	0.39783	0.18865003	0.42167	0.18460125	0.39782	0.18865003	0.42166	-2.789	0.08082	T	.	.	0.216	0.44579	B	.;.	.;.	2.170928	0.27664	17.54	0.98592351932325073	0.43388	0.02707	0.07358	N	AEFDBHI	0.343767	0.43947	N	-0.525283480944938	0.21265	1.127255	-0.726668349627865	0.16298	0.8615145	0.958640518226077	0.28375	0.696267	0.57585	0	0.514364	0.08380	0	0.691665	0.62940	0	0.599892	0.37169	0	.	.	3.07	1.9	0.24770	0.180000	0.16672	0.743000	0.21176	-0.095000	0.16041	0.000000	0.06391	0.003000	0.18671	0.020000	0.11549	0.7426:0.2574:0.0:0.0	6.296	0.20295	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	.	.	.	.	.	.	.	.	0.05263	3883.81	39	chr10	133352030	.	A	T	3883.81	.	AC=2;AF=0.053;AN=38;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.58;SOR=1.046	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3911,369,0	18	1	0	0
chr10	133533792	133533792	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon6:c.G862A:p.G288S	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	.	0.00379393	0.0028	0	0.0003	0.0001	0	1.499e-05	0.0055	0.0202	0.0024385	377	154602	rs61710826	0.0013	0.0013	0.0008	0.0018	0.0203	0.0012	0.0012	0.0195	0.0192	0	0	0	7.557e-05	0	0.0003	2.968e-05	0.0018	0.0203	0.0007	0.0007	0.0003	0.0011	0.0207	0.0006	0.0005	0.0174	0.0162	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0207	0.105	0.30375	T	0.062	0.45318	T	0.945	0.53279	P	0.613	0.51171	P	0.006757	0.31824	N	0.386253	1	0.08975	N	-0.175	0.04276	N	-0.27	0.67367	T	1.05	0.01488	N	0.054	0.02559	-0.9304	0.44080	T	0.158	0.49027	T	10	0.0065504014	0.00148	T	.	.	.	0.168	0.42943	0.608	0.74063	0.641048165634	0.63808	0.1800232113540086	0.17921	0.369890665842	0.38515	0.394802570343	0.24343	T	0.03004	0.21388	T	-0.506787	0.00523	T	-0.485145	0.23901	T	0.0342855437364483	0.02686	T	0.694731	0.30434	T	0.0960666	0.22621	0.056927457	0.10258	0.0960666	0.22621	0.056927457	0.10257	-1.309	0.01416	T	.	.	0.117	0.23848	B	.;.;.;.	.;.;.;.	0.785912	0.11562	8.156	0.83700415288107233	0.14871	0.00089	0.00592	N	AEFDBI	0.283815	0.39683	N	-0.711938346470966	0.15686	0.7926656	-0.835004165390488	0.13647	0.7091577	0.0191091762678123	0.13129	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.96	1.35	0.21078	0.584000	0.23565	4.429000	0.43344	-0.279000	0.06446	0.000000	0.06391	0.467000	0.25033	0.001000	0.02609	0.7393:0.0:0.2607:0.0	6.674	0.22275	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	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.015152	0.05263	4696.81	39	chr10	133533792	.	G	A	4696.81	.	AC=2;AF=0.053;AN=38;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=0.85	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4724,447,0	18	1	0	0
chr11	499944	499944	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon4:c.C328T:p.R110C,RNH1:NM_203385:exon4:c.C328T:p.R110C,RNH1:NM_203388:exon4:c.C328T:p.R110C,RNH1:NM_203389:exon4:c.C328T:p.R110C,RNH1:NM_002939:exon5:c.C328T:p.R110C,RNH1:NM_203383:exon5:c.C328T:p.R110C,RNH1:NM_203386:exon5:c.C328T:p.R110C,RNH1:NM_203387:exon5:c.C328T:p.R110C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.103392272384	0.0049	0.00179712	0.0060	0.0020	0.0014	0	0.0082	0.0089	0.0016	0.0026	0.004366	675	154602	rs117254759	0.0066	0.0066	0.0069	0.0064	0.0078	0.0065	0.0065	0.0077	0.0076	0.0010	0.0014	0.0040	0	0.0069	0.0015	0.0078	0.0046	0.0019	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0014	0.0037	0	0.0055	0	0.0070	0.0043	0.0017	0.074	0.78490	T	0.034	0.69154	D	0.999	0.77913	D	0.548	0.49136	P	0.106549	0.19609	N	0.423423	0.98541	0.24713	N	2.285	0.65182	M	0.99	0.54149	T	-2.52	0.77798	D	0.394	0.43803	-0.9637	0.38468	T	0.117	0.41187	T	10	0.0055663884	0.00123	T	0.103392	0.77739	D	0.117	0.32689	.	.	0.690818619429	0.68816	0.4378412686119318	0.43701	0.642168430392	0.57789	0.411553770304	0.26672	T	0.123394	0.44773	T	-0.396166	0.02453	T	-0.33516	0.40892	T	0.025197134143806	0.01298	T	0.79622	0.56114	T	0.37820172	0.59186	0.12681967	0.30538	0.37820172	0.59186	0.12681967	0.30537	-6.856	0.52974	T	.	.	0.125	0.37988	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.528874	0.32689	19.12	0.99656008721594225	0.77631	0.22819	0.21873	N	AEFBCI	0.228658	0.35229	N	-0.343048869355888	0.27528	1.511066	-0.584454568967611	0.19898	1.069654	0.731839146626737	0.23059	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.03	1.12	0.19700	0.072000	0.14482	1.360000	0.25874	0.506000	0.23061	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2832:0.0:0.7168:0.0	5.141	0.14289	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr11:499944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002033	0.000000	0.001362	0.000000	0.050000	0.000000	0.006211	0.003788	0.02632	1126.33	39	chr11	499944	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.88;DP=755;ExcessHet=0;FS=3.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.222;SOR=1.077	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1140,0,759	18	0	1	0
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,68:400:99:0|1:1017461_G_T:2065,0,10837:1017461	9	0	9	1
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	138117.0	565	chr11	1017514	.	A	*	138117.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.502;DP=12840;ExcessHet=31.086;FS=1.15;InbreedingCoeff=-0.8537;MLEAC=1;MLEAF=0.028;MQ=55.91;MQRankSum=-18.77;QD=12;ReadPosRankSum=5.02;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,68:419:99:0|1:1017461_G_T:1988,0,11929:1017461	17	0	1	1
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1221.11	167	chr11	1018228	.	G	*	1221.11	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=4229;ExcessHet=6.9875;FS=13.674;InbreedingCoeff=-0.4381;MLEAC=6;MLEAF=0.188;MQ=57.03;MQRankSum=-9.096;QD=0.53;ReadPosRankSum=-1.93;SOR=2.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,17:198:99:.:.:178,0,7423:.	11	0	5	3
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	0/1:222,28:276:84:.:.:507,0,9237:.	5	0	14	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	25958.0	336	chr11	1096086	.	G	*	25958.0	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.243;DP=6216;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=4;MLEAF=0.105;MQ=56.85;MQRankSum=0.894;QD=7.23;ReadPosRankSum=0;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,32:90:99:0|1:1096086_G_*:3676,2427,6325:1096086	15	0	4	0
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	22898.1	339	chr11	1096123	.	C	*	22898.1	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.68;DP=7054;ExcessHet=1.8686;FS=0.557;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.059;MQ=56.64;MQRankSum=1.86;QD=8.16;ReadPosRankSum=-2.27;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,32:124:99:0|1:1096086_G_*:4126,3261,8154:1096086	15	0	2	2
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	5365.69	440	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	*	5365.69	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.83;DP=7906;ExcessHet=0.7564;FS=0.625;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.059;MQ=56.57;MQRankSum=-2.836;QD=3.46;ReadPosRankSum=-0.775;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,32:156:99:0|1:1096111_A_*:525,0,8504:1096111	15	0	2	2
chr11	1096142	1096142	C	0	exonic	MUC2	.	.	.	.	488	947	10	0	77	87	0.0052521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	816.39	440	chr11	1096142	.	C	*	816.39	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.868;DP=7900;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.118;MQ=56.6;MQRankSum=-1.136;QD=0.44;ReadPosRankSum=1.89;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,23:156:99:0|1:1096111_A_*:253,0,4183:1096111	13	0	4	2
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	16077.3	440	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	16077.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.72;DP=9243;ExcessHet=8.9063;FS=1.137;InbreedingCoeff=-0.4074;MLEAC=5;MLEAF=0.132;MQ=56.91;MQRankSum=-3.717;QD=4.25;ReadPosRankSum=-1.447;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,127:229:99:.:.:4520,0,4347:.	14	0	5	0
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	1368.84	440	chr11	1096155	.	C	G	1368.84	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.029;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,49:162:99:0|1:1096111_A_*:1809,0,5855:1096111	16	0	1	2
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	1705.26	440	chr11	1096181	.	C	G	1705.26	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.036;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,60:237:99:0|1:1096111_A_*:2122,0,7468:1096111	13	0	1	5
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1594.16	460	chr11	1096212	.	C	T	1594.16	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.12;DP=6955;ExcessHet=0.1259;FS=1.152;InbreedingCoeff=-0.3818;MLEAC=3;MLEAF=0.75;MQ=56.75;MQRankSum=-4.215;QD=2.37;ReadPosRankSum=8.2;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,60:257:99:0|1:1096111_A_*:2488,0,7911:1096111	1	0	1	17
chr11	1097222	1097222	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	635	885	1	0	1	2	0.000564653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0673042603505	.	.	0.0003	0.0013	0	0	0	0.0003	0	0	1.29e-05	2	154602	.	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	3.512e-05	8.711e-05	0	0	0.0012	0	0.0002	0.0001	8.237e-05	4.941e-05	8.692e-05	2.751e-05	7.251e-05	6.941e-05	2.251e-05	1.618e-05	2.063e-05	1.285e-05	0	0	6.941e-05	0	0	0.0002	0	6.269e-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	.	.	.	.	.	.	.	.	0.02778	676.71	89	chr11	1097222	.	C	A	676.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.85;DP=3478;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=34.94;MQRankSum=-0.037;QD=5.83;ReadPosRankSum=1.98;SOR=0.591	GT:AD:DP:GQ:PL	0/1:73,43:116:99:690,0,1928	17	0	1	1
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	251.63	150	chr11	1097520	.	T	G	251.63	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.382;DP=3161;ExcessHet=0.119;FS=5.251;InbreedingCoeff=-0.1021;MLEAC=1;MLEAF=0.031;MQ=35.8;MQRankSum=-1.296;QD=1.52;ReadPosRankSum=1.74;SOR=1.22	GT:AD:DP:GQ:PL	0/1:73,19:92:99:264,0,1859	15	0	1	3
chr11	1098946	1098948	CAA	-	exonic	MUC2	.	unknown	UNKNOWN	.	771	750	1	0	0	1	0.000666223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410964135	0.0009	0.0025	0.0007	0.0011	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0004	0.0009	0	0.0028	0	0.0010	0.0009	0.0003	0.0007	0.0011	0.0006	0.0008	0.0017	0.0006	0.0005	0.0006	0.0006	0	0	0.0004	0.0006	0	0.0019	0	0.0009	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	93.1	95	chr11	1098945	.	CCAA	C	93.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.031;DP=1395;ExcessHet=0;FS=3.921;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=31.56;MQRankSum=-1.233;QD=1.16;ReadPosRankSum=-1.606;SOR=0.209	GT:AD:DP:GQ:PL	0/1:72,8:80:99:106,0,2917	16	0	1	2
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|1:0,184:223:99:0|1:1099366_T_*:6485,1650,1140:1099366	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|1:0,184:229:99:0|1:1099366_T_*:6578,1821,1554:1099366	10	0	9	0
chr11	1248345	1248345	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11465A:p.A3822D	.	.	.	.	.	.	.	.	.	.	.	3723723	Interstitial_lung_disease_2|not_specified	MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.000826134112604	.	.	8.349e-06	0	0	0	0	1.516e-05	0	0	6.5e-06	1	154602	rs765026475	4.79e-06	4.788e-06	5.446e-06	4.126e-06	0.0003	1.99e-06	1.28e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	3.598e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	1.96	0.22270	T	-0.94	0.25118	N	0.057	0.02861	-0.9962	0.30974	T	0.042	0.17952	T	9	0.060271084	0.07376	T	8.26E-4	0.00670	T	0.055	0.15663	.	.	0.043077524339	0.03247	0.2869963316442976	0.28612	.	.	0.179490432143	0.00089	T	0.021899	0.16976	T	-0.354276	0.04464	T	-0.746669	0.03617	T	0.0342160321680004	0.02674	T	0.765423	0.39305	T	0.09160264	0.21467	0.07259637	0.15679	0.09160264	0.21467	0.07259637	0.15679	-9.398	0.70223	D	.	.	0.166	0.36535	B	.	.	0.260912	0.06395	2.860	0.66674496337756461	0.08128	0.01548	0.05077	N	AEFI	0.049089	0.08445	N	-1.56618972656254	0.01442	0.06291418	-1.75510069321924	0.00914	0.04089702	0.590526178870481	0.21643	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.93	-5.86	0.02114	-0.792000	0.04700	-5.798000	0.01593	0.308000	0.19071	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1999:0.2746:0.2849:0.2406	0.917	0.01224	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	0.000529	0.000000	0.000000	0.004098	0.000000	0.008621	0.000000	0.000000	0.02632	2570.33	49	chr11	1248345	.	C	A	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.865;DP=1350;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.48;MQRankSum=-0.772;QD=12.48;ReadPosRankSum=0.501;SOR=0.551	GT:AD:DP:GQ:PL	0/1:111,95:206:99:2584,0,3011	18	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	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	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.1316	10144.4	168	chr11	4653052	.	A	G	10144.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.83;DP=2413;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.444;SOR=0.745	GT:AD:DP:GQ:PL	0/1:100,77:177:99:1896,0,2512	14	0	5	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,28:172:73:0|1:5351789_C_G:73,0,4791:5351789	5	0	9	5
chr11	6456816	6456816	C	T	exonic	TRIM3	.	nonsynonymous SNV	TRIM3:NM_001248007:exon5:c.G553A:p.G185S,TRIM3:NM_001248006:exon6:c.G910A:p.G304S,TRIM3:NM_033278:exon6:c.G910A:p.G304S,TRIM3:NM_006458:exon7:c.G910A:p.G304S	.	423	1095	3	1	0	5	0.0022779	.	.	.	2376855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.345	0.0517787738851	.	.	8.552e-06	0	0	0	0	1.567e-05	0	0	6.5e-06	1	154602	rs780547892	1.164e-05	1.368e-05	1.09e-05	1.239e-05	0.0007	7.09e-06	5.8e-06	0.0002	0.0001	0	0	3.828e-05	0	0	0.0007	8.094e-06	4.968e-05	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.411e-05	0	0	0	0	0	0	2.939e-05	0	0	0.142	0.25457	T	0.22	0.25907	T	0.287	0.32229	B	0.059	0.26602	B	0.000087	0.51296	D	0.201321	0.999999	0.58761	D	1.65	0.42232	L	-0.53	0.82806	T	-0.92	0.28290	N	0.688	0.71055	-0.2558	0.76202	T	0.429	0.77166	T	10	0.49949634	0.61464	T	0.051779	0.64800	D	0.345	0.66676	0.344	0.33788	0.833059519253	0.83146	0.857723841348539	0.85735	2.10380895774	0.94866	0.744227170944	0.73594	T	0.162491	0.50718	T	0.164662	0.70632	D	0.0685875	0.74817	D	0.608543245360344	0.36742	D	0.965003	0.87031	D	0.06841985	0.14904	0.08633769	0.19995	0.06841985	0.14904	0.08633769	0.19994	-3.717	0.19569	T	.	.	0.084	0.30502	B	.;.;.;.;.	.;.;.;.;.	3.329583	0.45828	22.2	0.99705600044060527	0.80936	0.99154	0.92024	D	AEFDBI	0.890672	0.82593	D	0.135628866011957	0.48131	3.02943	0.248539371044971	0.52566	3.430675	0.999999976936604	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.568000	0.81546	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	17.465	0.87523	732	0.54084	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1840.33	41	chr11	6456816	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=802;ExcessHet=0;FS=4.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.488;SOR=1.024	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1854,0,1854	18	0	1	0
chr11	8619460	8619460	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon18:c.C3295T:p.P1099S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00827948574975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.84e-07	0	1.449e-06	1.263e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.14159	T	1.0	0.01155	T	0.024	0.19075	B	0.092	0.30031	B	0.018393	0.27494	N	0.222293	0.999997	0.08975	N	-0.28	0.03718	N	1.95	0.22474	T	-0.58	0.17417	N	0.076	0.11197	-0.9518	0.40660	T	0.019	0.08126	T	10	0.056612432	0.06372	T	0.008279	0.21928	T	0.047	0.12962	0.263	0.20788	0.289098819767	0.28531	0.2170923711140654	0.21625	.	.	0.397117137909	0.24667	T	0.004858	0.04280	T	-0.256623	0.13298	T	-0.606398	0.12280	T	0.353112757205963	0.27140	T	0.777822	0.52631	T	0.09778182	0.23055	0.08080656	0.18309	0.09778182	0.23055	0.08080656	0.18309	0.123	0.00308	T	.	.	0.117	0.48685	B	.;.;.	.;.;.	3.415978	0.47413	22.5	0.94497581597753355	0.24967	0.66110	0.32965	D	AEFBI	0.109347	0.21722	N	-0.563613021046277	0.20059	1.054635	-0.349857087303558	0.26513	1.464959	3.18937357645545E-4	0.06498	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.95	2.89	0.32713	2.082000	0.41230	9.569000	0.81007	0.666000	0.68947	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.1035:0.0:0.4719:0.4245	5.983	0.18650	502	0.75873	Bromodomain|Bromodomain|Bromodomain;Bromodomain|Bromodomain|Bromodomain;Bromodomain|Bromodomain|Bromodomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1301.33	33	chr11	8619460	.	G	A	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=734;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.643;SOR=0.843	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1315,0,873	18	0	1	0
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N,ZBED5:NM_021211:exon3:c.G1640A:p.S547N	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	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	0.012821	0.000000	0.000000	0.000000	0.100000	0.000000	0.033333	0.044118	0.02632	1257.33	34	chr11	10853306	.	C	T	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.325;DP=885;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.304;SOR=0.613	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1271,0,1708	18	0	1	0
chr11	12204322	12204322	G	A	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon2:c.G337A:p.V113I,MICAL2:NM_001282667:exon2:c.G337A:p.V113I,MICAL2:NM_001282664:exon3:c.G337A:p.V113I,MICAL2:NM_001282665:exon3:c.G337A:p.V113I,MICAL2:NM_001346292:exon3:c.G337A:p.V113I,MICAL2:NM_001346294:exon3:c.G337A:p.V113I,MICAL2:NM_001346298:exon3:c.G337A:p.V113I,MICAL2:NM_001282663:exon4:c.G337A:p.V113I,MICAL2:NM_001282668:exon4:c.G337A:p.V113I,MICAL2:NM_001346293:exon4:c.G337A:p.V113I,MICAL2:NM_001346295:exon4:c.G337A:p.V113I,MICAL2:NM_001346296:exon4:c.G337A:p.V113I,MICAL2:NM_001346297:exon4:c.G337A:p.V113I,MICAL2:NM_001346299:exon4:c.G337A:p.V113I,MICAL2:NM_014632:exon4:c.G337A:p.V113I	.	430	1059	33	0	0	33	0.0153417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	.	0.0026	0.00778754	0.0055	0.0005	0.0024	0	0.0032	0.0039	0.0088	0.0211	0.0050064	774	154602	rs140406273	0.0042	0.0042	0.0038	0.0047	0.0197	0.0042	0.0041	0.0189	0.0186	0.0006	0.0018	3.826e-05	5.038e-05	0.0038	0.0069	0.0034	0.0053	0.0197	0.0029	0.0029	0.0026	0.0032	0.0178	0.0026	0.0026	0.0148	0.0137	0.0004	0	0.0041	0	0.0002	0.0044	0.0034	0.0031	0.0038	0.0178	0.053	0.56456	T	0.006	0.92824	D	0.104	0.25941	B	0.215	0.37512	B	0.000001	0.84330	D	0.000000	1	0.81001	D	0.51	0.13489	N	-3.73	0.95458	D	-0.99	0.26422	N	0.389	0.43029	0.385	0.88870	D	0.769	0.92157	D	9	0.008889675	0.00201	T	.	.	.	0.395	0.71004	.	.	0.769179187583	0.76706	0.7287106623859314	0.72815	0.441022210684	0.44097	0.584412813187	0.50707	T	0.038793	0.24967	T	-0.101395	0.36194	T	0.0978326	0.76765	D	0.023508386497665	0.01085	T	0.908909	0.69206	D	0.15731739	0.35455	0.13362809	0.32039	0.15731739	0.35454	0.13362809	0.32038	-8.562	0.65248	D	.	.	0.132	0.36315	B	.;.;.;.;.	.;.;.;.;.	4.339909	0.66570	25.0	0.998640528353262	0.94184	0.98884	0.88144	D	AEFBI	0.907839	0.86237	D	0.148236922659775	0.48730	3.081587	0.353058625645098	0.58690	4.041303	0.999999999999998	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.7	5.7	0.88690	8.116000	0.89434	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.429	0.94749	900	0.24599	FAD-binding domain;.;FAD-binding domain;FAD-binding domain;FAD-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	0.009567	0.005051	0.001359	0.008772	0.000000	0.008621	0.018293	0.015152	0.02632	1236.33	34	chr11	12204322	.	G	A	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.131;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.75;SOR=0.735	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1250,0,1470	18	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.000000	0.021739	0.035088	0.000000	0.025862	0.021341	0.011364	0.02632	2198.33	40	chr11	12293628	.	G	A	2198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.615;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.68;SOR=0.704	GT:AD:DP:GQ:PL	0/1:69,94:163:99:2212,0,1552	18	0	1	0
chr11	30903581	30903581	A	G	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon13:c.T1732C:p.W578R,DCDC1:NM_001367979:exon32:c.T4411C:p.W1471R	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.0928540639859	.	0.000798722	0.0004	0	0	0	0	0.0002	0	0.0019	0.0002458	38	154602	rs530429849	7.477e-05	7.661e-05	4.911e-05	0.0001	0.0010	6.332e-05	5.889e-05	0.0008	0.0008	0	0	0	0	1.879e-05	0.0010	1.081e-05	4.98e-05	0.0010	9.85e-05	9.843e-05	5.14e-05	0.0001	0.0025	6.003e-05	4.877e-05	0.0014	0.0011	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0025	.	.	.	0.017	0.63918	D	.	.	.	.	.	.	0.000632	0.42799	D	0.107749	0.616553	0.32668	D	.	.	.	-3.18	0.93111	D	.	.	.	0.688	0.78167	1.078	0.98825	D	0.862	0.95411	D	10	0.19889024	0.35876	T	0.092854	0.75968	D	0.769	0.92212	.	.	0.856096443789	0.85471	0.4330075666601383	0.43217	.	.	0.561247527599	0.47444	T	.	.	.	0.124972	0.66868	D	0.361186	0.90747	D	0.535982489585876	0.33955	D	0.577142	0.20757	T	.	.	.	.	.	.	.	.	0.093	0.00317	T	.	.	0.676	0.77428	P	.;.	.;.	4.440042	0.68930	25.3	0.99635558518284462	0.76326	0.95209	0.63842	D	AEFI	0.696528	0.65484	D	0.715810490284261	0.80669	7.345773	0.700846496759506	0.82441	7.768158	0.0568577820638169	0.15071	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	5.469000	0.66479	9.103000	0.78781	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.180	0.65105	450	0.79359	Doublecortin domain;Doublecortin 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	.	.	.	.	.	.	.	.	0.02632	492.33	35	chr11	30903581	.	A	G	492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=689;ExcessHet=0;FS=3.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.04;SOR=0.677	GT:AD:DP:GQ:PL	0/1:36,20:56:99:506,0,953	18	0	1	0
chr11	31094136	31094136	T	G	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_001367979:exon16:c.A2032C:p.S678R	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00164023801198	0.0002	0.00139776	0.0008	0.0001	8.763e-05	0	0	0.0002	0	0.0047	0.0006404	99	154602	rs376049865	0.0005	0.0005	0.0003	0.0007	0.0037	0.0004	0.0004	0.0033	0.0031	0	6.861e-05	0.0002	0	2.574e-05	0.0010	5.432e-05	0.0002	0.0037	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.708e-05	0.0028	0.0023	0	0	0	0.0006	0	0	0	4.411e-05	0	0.0042	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.36	0.34452	T	.	.	.	0.421	0.46086	.	.	.	.	.	.	.	0.0071080327	0.00162	T	0.00164	0.02676	T	.	.	.	.	0.64191002643	0.63895	.	.	.	.	0.292992472649	0.09360	T	.	.	.	-0.470628	0.00842	T	-0.448535	0.27859	T	.	.	.	0.367163	0.08573	T	.	.	.	.	.	.	.	.	-4.117	0.25540	T	.	.	0.211	0.43935	B	.	.	1.175359	0.15656	12.01	0.77021265068808054	0.11704	0.03869	0.09232	N	AEFI	0.051751	0.09174	N	.	.	.	.	.	.	1.93413818597597E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.78	3.62	0.40616	0.346000	0.19737	-0.157000	0.11360	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.854000	0.40426	0.0:0.0:0.2009:0.7991	8.756	0.33805	379	0.83778	.	.	.	.	.	.	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	901.33	34	chr11	31094136	.	T	G	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.314;SOR=0.626	GT:AD:DP:GQ:PL	0/1:47,38:85:99:915,0,1291	18	0	1	0
chr11	34888363	34888363	G	A	exonic	APIP	.	nonsynonymous SNV	APIP:NM_015957:exon5:c.C391T:p.R131W	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0175022827983	.	0.000399361	0.0001	0	0	0.0005	0.0008	8.997e-05	0	0.0002	0.0001358	21	154602	rs200417952	6.514e-05	6.635e-05	7.502e-05	5.515e-05	0.0002	5.441e-05	5.053e-05	0.0002	0.0001	0	2.254e-05	0	0.0001	0.0008	0.0002	1.351e-05	0.0001	0.0002	5.92e-05	5.909e-05	5.146e-05	6.729e-05	0.0004	3.08e-05	2.212e-05	6.83e-05	2.858e-05	2.412e-05	0	6.558e-05	0	0.0004	0.0002	0	2.942e-05	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.922	0.51142	P	0.67	0.53116	P	0.124038	0.18896	N	0.585786	0.809374	0.29019	N	1.47	0.36993	L	1.87	0.24085	T	-3.46	0.67705	D	0.232	0.26111	-1.0259	0.21788	T	0.083	0.32499	T	10	0.089328915	0.15465	T	0.017502	0.39223	T	0.097	0.27909	0.372	0.38340	0.380901646489	0.37697	0.7408933732763106	0.74034	0.331280587457	0.35207	0.239483520389	0.02744	T	0.148297	0.48678	T	-0.358633	0.04207	T	-0.460779	0.26514	T	0.15428359042738	0.17439	T	0.807219	0.45710	T	0.26604816	0.49675	0.34700355	0.60361	0.26604816	0.49674	0.34700355	0.60360	-9.25	0.69292	D	.	.	0.182	0.39545	B	.	.	4.484034	0.69979	25.5	0.99896738415537567	0.96971	0.89614	0.50191	D	AEFBI	0.575868	0.57809	D	0.269797852459423	0.54624	3.627567	0.284362652384148	0.54627	3.62705	0.993144867081063	0.33102	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.7	4.78	0.60666	3.727000	0.54711	3.656000	0.39392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:0.5233:0.4767	13.005	0.58106	779	0.47767	Class II aldolase/adducin N-terminal|Class II aldolase/adducin 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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	540.33	41	chr11	34888363	.	G	A	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.407;SOR=0.693	GT:AD:DP:GQ:PL	0/1:22,24:46:99:554,0,458	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	0/1:43,31:74:99:659,0,987	16	0	3	0
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|1:171,32:222:99:0|1:56375950_A_G:1078,0,7077:56375950	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|1:171,31:221:99:0|1:56375950_A_G:1039,0,7038:56375950	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|1:174,31:224:99:0|1:56375950_A_G:1030,0,7083:56375950	2	0	16	1
chr11	56491127	56491127	C	T	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.G244A:p.E82K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00565400787547	.	.	4.12e-05	0	0	0	0	7.496e-05	0	0	3.88e-05	6	154602	rs373976847	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0016	1.456e-05	1.264e-05	0.0008	0.0006	0	2.236e-05	0	0	0	0.0016	1.259e-05	9.934e-05	0	1.314e-05	1.313e-05	1.285e-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	0.287	0.15149	T	0.102	0.38450	T	0.632	0.40232	P	0.493	0.47443	P	0.037892	0.24348	U	0.198759	1	0.08975	N	0.105	0.08473	N	4.48	0.02067	T	-0.76	0.21215	N	0.147	0.14905	-0.9595	0.39274	T	0.008	0.02926	T	10	0.090789914	0.15847	T	0.005654	0.14621	T	0.046	0.12618	0.418	0.45873	0.249502417897	0.24576	0.2074898976379729	0.20664	0.00481825930377	0.00428	0.275559782982	0.06881	T	0.00803	0.07391	T	-0.385686	0.02867	T	-0.68413	0.06735	T	0.154437512159348	0.17451	T	0.294771	0.05441	T	0.04505029	0.07309	0.041462008	0.04718	0.04505029	0.07308	0.041462008	0.04718	-6.218	0.48069	T	.	.	0.141	0.30817	B	.	.	2.154835	0.27447	17.47	0.98506753245866574	0.42288	0.01087	0.04005	N	AEFI	0.041827	0.06411	N	-0.829252431290038	0.12567	0.6133446	-0.986755581635183	0.10082	0.505573	1.72560864700317E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	-0.152	0.12751	-2.031000	0.01515	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3872:0.1916:0.4212	3.945	0.08841	259	0.89842	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	1438.33	33	chr11	56491127	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=748;ExcessHet=0;FS=1.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.566;SOR=0.536	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1452,0,1571	18	0	1	0
chr11	57182117	57182117	C	T	exonic	LRRC55	.	nonsynonymous SNV	LRRC55:NM_001005210:exon1:c.C95T:p.S32L	.	419	1102	1	0	0	1	0.000453515	.	.	.	3984762	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0239362858006	.	.	3.301e-05	9.634e-05	0	0	0	1.501e-05	0	0.0001	2.59e-05	4	154602	rs745630397	3.078e-05	3.078e-05	1.634e-05	4.538e-05	0.0001	2.347e-05	2.095e-05	7.998e-05	6.236e-05	5.974e-05	0	0	0	1.873e-05	0	2.608e-05	1.656e-05	0.0001	2.628e-05	2.626e-05	1.284e-05	4.035e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	2.412e-05	0	0	0	0	0	0	0	0	0.0006	0.113	0.28772	T	0.189	0.28575	T	.	.	.	.	.	.	0.155641	0.17824	N	0.514986	1	0.08975	N	.	.	.	0.07	0.61677	T	-0.3	0.11913	N	0.391	0.43223	-1.0348	0.18920	T	0.094	0.35551	T	10	0.07504377	0.11547	T	0.023936	0.46920	T	0.044	0.11924	.	.	0.184605227958	0.18053	.	.	0.0870122964197	0.09816	0.393913120031	0.24220	T	.	.	.	-0.314813	0.07331	T	-0.487329	0.23670	T	0.113787174224854	0.13812	T	0.711029	0.32195	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.777759	0.22607	15.69	0.98867342790966029	0.47580	0.12130	0.17078	N	AEFDBI	0.084133	0.17050	N	-0.497281639358382	0.22169	1.181894	-0.432429895194561	0.24051	1.314944	0.300231700950773	0.19181	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.8	4.89	0.63387	3.360000	0.52020	3.293000	0.37321	0.599000	0.40250	0.167000	0.23894	0.095000	0.22593	0.779000	0.36868	0.0:0.9191:0.0:0.0809	11.958	0.52281	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	.	.	.	.	.	.	.	.	0.02632	1855.33	39	chr11	57182117	.	C	T	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.64;DP=789;ExcessHet=0;FS=2.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.377;SOR=0.598	GT:AD:DP:GQ:PL	0/1:86,66:152:99:1869,0,2181	18	0	1	0
chr11	57500817	57500817	C	T	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon5:c.G427A:p.G143S,SLC43A1:NM_003627:exon5:c.G427A:p.G143S	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.0368459282412	.	.	2.49e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750737397	9.577e-06	9.577e-06	2.722e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	1.97e-05	1.97e-05	0	4.033e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	0	0	0.0006	0.064	0.36509	T	0.006	0.70582	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	2.495	0.72670	M	-1.02	0.76300	T	-4.82	0.80851	D	0.92	0.92317	-0.5705	0.65994	T	0.310	0.68030	T	10	0.9116697	0.90532	D	0.036846	0.57248	D	0.736	0.90808	0.843	0.94784	0.884397672205	0.88326	0.8351483235431836	0.83474	0.928649804324	0.71733	0.741751372814	0.73230	T	0.632587	0.88632	D	0.191778	0.73126	D	0.274368	0.86816	D	0.967074573040009	0.67789	D	0.89721	0.83911	D	0.5110833	0.67742	0.4949911	0.70793	0.5110833	0.67743	0.4949911	0.70794	-11.755	0.83637	D	.	.	0.554	0.73851	A	.;.;.	.;.;.	5.117802	0.85593	28.6	0.99874664344378505	0.95160	0.92785	0.56539	D	AEFBCI	0.882151	0.81004	D	0.445719315267757	0.63960	4.640304	0.519662411189839	0.69315	5.342755	0.999999999952226	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.177000	0.77194	5.928000	0.51272	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.763	0.77871	71	0.96981	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	34	chr11	57500817	.	C	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.043;SOR=0.795	GT:AD:DP:GQ:PL	0/1:42,39:81:99:983,0,1034	18	0	1	0
chr11	59087137	59087137	A	G	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon2:c.A152G:p.E51G	.	434	1065	22	1	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0115815	.	.	.	.	.	.	.	.	0.0056093	146	26028	rs371929838	0.0054	0.0075	0.0048	0.0059	0.0222	0.0053	0.0052	0.0210	0.0205	0.0105	0.0039	0.0090	0.0067	0.0020	0.0129	0.0030	0.0063	0.0222	0.0064	0.0091	0.0062	0.0066	0.0304	0.0060	0.0059	0.0263	0.0247	0.0101	0.0011	0.0033	0.0107	0.0054	0.0020	0.0068	0.0038	0.0077	0.0304	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.0076552927	0.00174	T	.	.	.	.	.	.	.	.	.	0.06532608308566358	0.06471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588241	0.21547	T	0.11397161	0.26911	0.30475253	0.56503	0.11397161	0.26911	0.30475253	0.56502	-6.036	0.46580	T	.	.	0.113	0.22208	B	.	.	1.979036	0.25141	16.65	0.74871709088921856	0.10859	0.05064	0.10856	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00281901235436436	0.09726	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.0518458	0.10732	2.57	2.57	0.29928	4.056000	0.57161	4.681000	0.44321	0.375000	0.20354	0.315000	0.25459	0.965000	0.29475	0.058000	0.15825	1.0:0.0:0.0:0.0	6.877	0.23335	628	0.65206	Glycine N-acyltransferase, 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	.	.	.	.	.	.	.	.	0.05263	3155.83	40	chr11	59087137	.	A	G	3155.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=978;ExcessHet=0.119;FS=3.135;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.37;MQRankSum=-8.875;QD=9.89;ReadPosRankSum=-0.172;SOR=0.895	GT:AD:DP:GQ:PL	0/1:108,51:159:99:1255,0,2789	17	0	2	0
chr11	60334918	60334918	A	G	exonic	MS4A6E	.	nonsynonymous SNV	MS4A6E:NM_139249:exon1:c.A23G:p.N8S,MS4A6E:NM_001376909:exon2:c.A23G:p.N8S	.	.	.	.	.	.	.	.	.	.	.	3375307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00267996380469	0.0003	0.000199681	0.0002	0.0002	0	0	0.0006	0.0002	0	6.057e-05	0.0001746	27	154602	rs150698992	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	5.974e-05	0	0	0	0.0003	0.0005	0.0003	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.624e-05	0	0	0	0	0.0004	0	0.0003	0.0005	0.0004	0.332	0.13045	T	0.213	0.26467	T	0.008	0.14655	B	0.001	0.04355	B	0.670200	0.06031	N	1.165440	1	0.08975	N	0.915	0.23335	L	2.98	0.09356	T	-1.12	0.28906	N	0.1	0.08227	-0.9359	0.43257	T	0.015	0.06042	T	10	0.018796593	0.00412	T	0.00268	0.05492	T	0.006	0.00375	.	.	0.0675242888579	0.06100	0.11627341595715314	0.11555	0.0733822023131	0.08227	0.26119235158	0.05034	T	0.002536	0.01924	T	-0.64935	0.00073	T	-0.877036	0.00679	T	0.0400828011333942	0.03705	T	0.657134	0.26688	T	0.035547968	0.04206	0.033340074	0.02213	0.035547968	0.04205	0.033340074	0.02213	-2.582	0.06367	T	.	.	0.071	0.03736	B	.	.	-0.361344	0.02361	0.257	0.94888347600758771	0.25727	0.00199	0.01145	N	AEFGBI	0.017080	0.00424	N	-1.46637972276425	0.02091	0.09198222	-1.58682512069968	0.01735	0.07891483	0.767940321769255	0.23621	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	2.4	-4.79	0.02966	-0.595000	0.05822	-0.778000	0.07467	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2377:0.1865:0.5758:0.0	5.781	0.17573	828	0.39726	.	.	.	.	.	.	Likely benign	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	2191.33	34	chr11	60334918	.	A	G	2191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=1295;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.833;SOR=0.758	GT:AD:DP:GQ:PL	0/1:87,83:170:99:2205,0,3404	18	0	1	0
chr11	61118243	61118243	G	A	exonic	CD5	.	nonsynonymous SNV	CD5:NM_014207:exon3:c.G163A:p.G55R	.	.	.	.	.	.	.	.	.	.	.	2397359	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00246276351575	.	.	4.119e-05	0	8.637e-05	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs769667296	3.352e-05	3.352e-05	2.314e-05	4.4e-05	0.0003	2.566e-05	2.312e-05	0.0002	0.0002	2.987e-05	0.0002	0	0	0	0.0002	7.194e-06	0.0001	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.602	0.08736	T	0.585	0.11263	T	0.013	0.16609	B	0.004	0.10090	B	0.000000	0.00162	N	7.018650	1	0.08975	N	-0.65	0.02095	N	1.45	0.32482	T	0.43	0.05706	N	0.16	0.16725	-1.0463	0.15447	T	0.024	0.10013	T	10	0.079823405	0.12887	T	0.002463	0.04868	T	0.049	0.13647	0.205	0.12076	0.203808441222	0.19973	0.4602924064340146	0.45947	0.346931811869	0.36591	0.199163213372	0.00433	T	0.03678	0.24231	T	-0.518124	0.00451	T	-0.685834	0.06633	T	0.0186442177483624	0.00578	T	0.253875	0.03902	T	0.15176369	0.34485	0.09451334	0.22375	0.15176369	0.34484	0.09451334	0.22375	-2.842	0.08576	T	.	.	0.082	0.15206	B	.;.	.;.	-2.003545	0.00100	0.002	0.29210506523171503	0.01538	0.00212	0.01206	N	AEFBI	0.038527	0.05466	N	-2.5738886282912	0.00011	0.0004662402	-2.66095910383646	0.00009	0.0004305258	0.999999999997489	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.86	-7.72	0.01112	-4.635000	0.00237	-20.000000	0.00162	-2.549000	0.00248	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3149:0.2709:0.2639:0.1504	1.135	0.01645	297	0.88113	SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3203.33	34	chr11	61118243	.	G	A	3203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=851;ExcessHet=0;FS=0.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.669;SOR=0.772	GT:AD:DP:GQ:PL	0/1:123,119:242:99:3217,0,2962	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,11:79:40:0|1:61740527_G_C:40,0,2610:61740527	6	0	13	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|1:69,11:80:37:0|1:61740527_G_C:37,0,2632:61740527	2	0	17	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|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	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1053	5064.43	113	chr11	64320780	.	G	T	5064.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.139;DP=910;ExcessHet=0.7564;FS=3.929;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.32;SOR=0.532	GT:AD:DP:GQ:PL	0/1:29,60:89:99:1496,0,690	15	0	4	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1053	2899.43	55	chr11	64349373	.	C	T	2899.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.802;DP=837;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.75;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,33:72:99:0|1:64349371_A_C:773,0,963:64349371	15	0	4	0
chr11	64556002	64556002	G	A	exonic	SLC22A11	.	startloss	SLC22A11:NM_001307985:exon1:c.G3A:p.M1?,SLC22A11:NM_018484:exon1:c.G3A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.165260698813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.052e-06	1.369e-06	1.384e-06	2.245e-05	2.3e-07	9e-08	.	.	0	2.245e-05	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	U	0.000000	0.999907	0.50806	D	.	.	.	-0.48	0.70249	T	-3.69	0.71997	D	0.84	0.85554	-0.1187	0.79664	T	0.477	0.79945	T	9	0.96882075	0.96426	D	0.165261	0.84417	D	0.538	0.80664	0.748	0.87905	0.827594883919	0.82595	0.5607220131335457	0.55999	.	.	.	.	.	0.246377	0.61583	T	0.186794	0.72669	D	0.0305398	0.72313	D	0.983843743801117	0.75362	D	0.9	0.65058	D	0.76625943	0.81824	0.55900854	0.74487	0.76625943	0.81825	0.55900854	0.74488	-9.249	0.69286	D	.	.	.	.	.	.;.;.	.;.;.	2.941060	0.39102	20.9	0.99106725513587313	0.52623	0.68988	0.34012	D	AEFDGBCI	0.035677	0.04632	N	0.115189568779159	0.47171	2.946598	-0.0658650125964207	0.36811	2.147085	0.999999993714049	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.62	2.68	0.30839	6.256000	0.72433	4.652000	0.44201	0.617000	0.49538	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.1262:0.0:0.8738:0.0	8.272	0.31009	391	0.83213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1028.33	33	chr11	64556002	.	G	A	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.298;DP=713;ExcessHet=0;FS=2.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.609;SOR=1.031	GT:AD:DP:GQ:PL	0/1:32,36:68:99:1042,0,889	18	0	1	0
chr11	65526332	65526332	G	A	exonic	SCYL1	.	nonsynonymous SNV	SCYL1:NM_001048218:exon4:c.G584A:p.R195K,SCYL1:NM_020680:exon4:c.G584A:p.R195K	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive	431	1089	2	0	0	2	0.000917431	.	.	.	2868291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.017	0.0151815479353	7.9e-05	0.000599042	0.0012	0	0	0	0.0082	0.0010	0.0037	0.0018	0.0009185	142	154602	rs200014873	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0004	0.0011	0.0011	0	0	0	0	0.0076	0	9.223e-05	0.0004	0.0013	0.0008	0.0008	0.0006	0.0011	0.0017	0.0007	0.0007	0.0008	0.0006	0	0	0	0	0	0.0087	0	0.0004	0.0009	0.0017	1.0	0.02079	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.12133	B	0.016945	0.27845	N	0.249507	0.938338	0.26866	N	.	.	.	-0.04	0.72889	T	0.01	0.08809	N	0.283	0.37613	-1.0199	0.23747	T	0.095	0.35924	T	10	0.0052575767	0.00115	T	0.015182	0.35761	T	0.017	0.02790	.	.	0.29132392195	0.28731	0.342270564857262	0.34140	0.367028223889	0.38272	0.389661490917	0.23622	T	0.034406	0.23310	T	-0.501618	0.00560	T	-0.517943	0.20504	T	0.0108483369948447	0.00155	T	0.666633	0.27564	T	0.09804565	0.23119	0.04977343	0.07674	0.09804565	0.23119	0.04977343	0.07674	-1.881	0.02762	T	.	.	0.073	0.09385	B	.;.;.;.;.;.	.;.;.;.;.;.	2.183143	0.27831	17.59	0.75629314243550516	0.11149	0.85085	0.44189	D	AEFB	0.177071	0.30430	N	-0.878434339333252	0.11357	0.5476211	-0.683854166825278	0.17365	0.9229736	0.999586905858786	0.40607	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.638787	0.57140	0	.	.	4.82	1.46	0.21769	1.372000	0.33866	4.412000	0.43285	-0.110000	0.15115	0.995000	0.38783	1.000000	0.68203	0.972000	0.54974	0.3691:0.2375:0.3934:0.0	2.820	0.05133	278	0.89047	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	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001515	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.02632	461.33	35	chr11	65526332	.	G	A	461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=1.27;SOR=0.757	GT:AD:DP:GQ:PL	0/1:42,22:64:99:475,0,992	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	0/1:84,37:121:83:83,0,1454	9	0	8	2
chr11	68312730	68312730	C	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon1:c.C16A:p.P6T	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	490566	not_specified|not_provided|Osteogenesis_imperfecta	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.266	0.901743825548	.	.	0	0	0	0	0	0	0	0	0.0016136	42	26028	rs771718186	0.0003	0.0007	0.0003	0.0003	0.0371	0.0003	0.0003	0.0329	0.0312	0	0.0371	0	0	0	0.0010	6.308e-05	0.0007	3.802e-05	0.0029	0.0029	0.0027	0.0032	0.0263	0.0027	0.0026	0.0241	0.0233	0.0004	0	0.0263	0	0.0004	0	0	0.0001	0.0034	0.0002	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999747	0.20516	N	0.69	0.16971	N	-3.16	0.92996	D	0.05	0.06369	N	0.226	0.25377	-0.5877	0.65312	T	0.422	0.76704	T	9	0.010892689	0.00241	T	0.901744	0.99261	D	0.266	0.57999	.	.	0.472463234578	0.46874	0.31266129840528945	0.31179	0.460099396149	0.45567	0.600916147232	0.53034	T	0.266491	0.63844	T	-0.343395	0.05157	T	-0.231002	0.51676	T	0.029359110273971	0.01892	T	0.354665	0.08016	T	0.08947305	0.20906	0.14915313	0.35227	0.09153588	0.21451	0.105190404	0.25282	-6.262	0.48421	T	.	.	0.081	0.08224	B	.	.	1.901177	0.24149	16.29	0.73214484906760458	0.10248	0.04050	0.09496	N	ALL	0.030945	0.03213	N	-1.1709564866964	0.05444	0.2481942	-1.12387219752894	0.07246	0.3517304	0.999999999750365	0.74766	0.455138	0.09556	0	0.218748	0.04544	0	0.606884	0.38211	0	0.621717	0.48901	0	.	.	0.805	-1.61	0.07951	0.171000	0.16497	1.197000	0.24809	0.242000	0.18252	0.001000	0.13787	0.999000	0.35428	0.130000	0.19568	0.3485:0.346:0.3055:0.0	2.201	0.03684	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	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02941	96.52	7	chr11	68312730	.	C	A	96.52	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.139;DP=154;ExcessHet=0;FS=0;InbreedingCoeff=-0.0496;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=-0.501;SOR=0.804	GT:AD:DP:GQ:PL	0/1:8,6:14:99:109,0,176	16	0	1	2
chr11	74286265	74286265	T	C	exonic	P4HA3	.	nonsynonymous SNV	P4HA3:NM_001288748:exon6:c.A896G:p.D299G,P4HA3:NM_182904:exon6:c.A896G:p.D299G	.	428	1085	8	1	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0116324992349	0.0049	0.00339457	0.0047	0.0015	0.0043	0	0.0005	0.0070	0.0044	0.0019	0.004573	707	154602	rs148426172	0.0053	0.0053	0.0054	0.0053	0.0064	0.0052	0.0052	0.0062	0.0062	0.0012	0.0039	0.0029	0	0.0006	0.0043	0.0064	0.0045	0.0012	0.0046	0.0046	0.0049	0.0043	0.0071	0.0043	0.0042	0.0064	0.0061	0.0012	0.0351	0.0071	0.0052	0	0.0002	0.0170	0.0069	0.0052	0.0015	0.101	0.42199	T	0.047	0.48855	D	0.009	0.15093	B	0.007	0.12992	B	0.000384	0.44960	D	0.250905	0.999397	0.46900	D	2.61	0.76335	M	0.44	0.57261	T	-4.26	0.76174	D	0.671	0.67908	-0.9690	0.37407	T	0.112	0.40099	T	10	0.008980304	0.00203	T	0.011632	0.29446	T	0.197	0.47942	.	.	0.509996732195	0.50639	0.6552487485365865	0.65460	0.104201529825	0.11789	0.497474074364	0.38476	T	0.377488	0.74066	T	-0.185028	0.22991	T	-0.0317333	0.68253	D	0.0441117547055627	0.04441	T	0.814619	0.46840	T	0.28914946	0.51913	0.29167005	0.55192	0.28914946	0.51913	0.29167005	0.55191	-6.458	0.49961	T	.	.	0.108	0.30076	B	.;.	.;.	3.446737	0.47979	22.5	0.99010314062408489	0.50356	0.93312	0.57880	D	AEFDBHI	0.612782	0.60072	D	-0.00428043748133425	0.41662	2.495938	0.138416787372339	0.46531	2.897614	0.999999400429746	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.81	4.67	0.58089	4.842000	0.62530	3.979000	0.40889	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1508:0.8492	11.473	0.49529	566	0.70798	.;.	.	.	.	.	rs148426172	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009082	0.040404	0.005435	0.002924	0.050000	0.017241	0.006173	0.000000	0.02632	506.33	34	chr11	74286265	.	T	C	506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.08;SOR=0.649	GT:AD:DP:GQ:PL	0/1:30,23:53:99:520,0,706	18	0	1	0
chr11	74338483	74338483	G	A	exonic	PGM2L1	.	nonsynonymous SNV	PGM2L1:NM_173582:exon13:c.C1751T:p.A584V	.	.	.	.	.	.	.	.	.	.	.	3572142	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0174806774444	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779736186	7.718e-06	2.668e-05	5.559e-06	9.92e-06	7.273e-05	4.14e-06	3.03e-06	3.108e-05	2.112e-05	0	0	0	0	0	0	2.764e-06	3.411e-05	7.273e-05	6.573e-06	6.567e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.035	0.52389	D	0.552	0.38158	P	0.187	0.36167	B	0.000003	0.62929	D	0.057904	0.99899	0.45836	D	1.795	0.47270	L	1.57	0.29342	T	-2.94	0.61435	D	0.462	0.49874	-1.0754	0.08266	T	0.074	0.29992	T	10	0.31948593	0.49335	T	0.017481	0.39195	T	0.118	0.32913	.	.	0.571763288708	0.56843	0.7555979874789899	0.75506	1.44567333393	0.86053	0.56332975626	0.47737	T	0.407015	0.76275	T	-0.191428	0.22048	T	-0.330603	0.41403	T	0.868116796016693	0.51810	D	0.909209	0.67884	D	0.1814381	0.39314	0.19325171	0.42883	0.1814381	0.39314	0.19325171	0.42882	-6.777	0.52388	T	.	.	0.189	0.40650	B	.	.	4.252240	0.64550	24.7	0.9989732289469796	0.96971	0.98421	0.82603	D	AEFGBI	0.596283	0.59051	D	0.372372768065801	0.59930	4.176716	0.476068403700114	0.66409	4.948152	0.995531597725823	0.34180	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	6.649000	0.74216	11.668000	0.94068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:0.1603:0.8397:0.0	13.163	0.58978	422	0.81333	Alpha-D-phosphohexomutase, 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	.	.	.	.	.	.	.	.	0.02632	769.33	34	chr11	74338483	.	G	A	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.574;DP=691;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-2.252;SOR=0.906	GT:AD:DP:GQ:PL	0/1:37,34:71:99:783,0,809	18	0	1	0
chr11	75436986	75436986	C	T	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon12:c.G1205A:p.R402H,GDPD5:NM_030792:exon16:c.G1619A:p.R540H,GDPD5:NM_001351168:exon17:c.G884A:p.R295H	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0152335097159	0.0008	0.000199681	0.0008	0.0006	8.693e-05	0	0.0005	0.0014	0	0.0001	0.0007697	119	154602	rs147755302	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0010	0.0003	0.0002	0	2.519e-05	0.0007	0.0003	0.0010	0.0004	0.0002	0.0004	0.0005	0.0006	0.0003	0.0007	0.0004	0.0003	0.0005	0.0005	0.0003	0	0.0003	0	0	0.0004	0	0.0007	0.0005	0	0.049	0.40068	D	0.147	0.38450	T	0.198	0.29589	B	0.056	0.26147	B	0.009937	0.30138	N	0.328616	0.999447	0.81001	D	2.175	0.60977	M	2.2	0.36146	T	-1.4	0.41239	N	0.358	0.40364	-1.0915	0.05286	T	0.074	0.29865	T	10	0.021390349	0.00511	T	0.015234	0.35841	T	0.026	0.05648	.	.	0.499727662827	0.49609	0.6291766549127216	0.62851	0.372525074531	0.38744	0.253999382257	0.04201	T	0.06767	0.33260	T	-0.443968	0.01226	T	-0.460947	0.26495	T	0.0287947530446029	0.01806	T	0.907509	0.71813	D	0.042685922	0.06520	0.04782645	0.06973	0.042685922	0.06520	0.04782645	0.06972	-7.509	0.57674	D	.	.	0.072	0.05060	B	.;.;.;.;.;.	.;.;.;.;.;.	1.778938	0.22621	15.69	0.99268163354394778	0.57457	0.75653	0.37052	D	AEFGBI	0.175683	0.30286	N	-0.366510669421788	0.26670	1.457322	-0.292846583524254	0.28333	1.579026	0.234650149592911	0.18504	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	0.187	0.14390	0.845000	0.27321	-0.931000	0.06883	0.599000	0.40250	0.993000	0.37899	0.002000	0.18203	0.973000	0.55318	0.0:0.5849:0.0:0.4151	8.743	0.33732	754	0.51307	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1895.33	35	chr11	75436986	.	C	T	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=799;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.386;SOR=0.888	GT:AD:DP:GQ:PL	0/1:87,74:161:99:1909,0,2006	18	0	1	0
chr11	82853275	82853275	A	T	exonic	PRCP	.	nonsynonymous SNV	PRCP:NM_005040:exon3:c.T313A:p.F105I,PRCP:NM_199418:exon4:c.T376A:p.F126I	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	.	.	0.00559105	0.0031	0	0.0003	0.0002	0	6.022e-05	0.0022	0.0224	0.0026649	412	154602	rs202003232	0.0012	0.0013	0.0007	0.0018	0.0199	0.0012	0.0012	0.0192	0.0188	9.026e-05	2.265e-05	0	5.049e-05	0	0.0007	1.443e-05	0.0014	0.0199	0.0007	0.0007	0.0004	0.0011	0.0224	0.0006	0.0006	0.0190	0.0177	2.405e-05	0	0	0	0	0	0	0	0	0.0224	0.002	0.72154	D	0.006	0.72224	D	0.983	0.60381	D	0.875	0.62107	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	2.57	0.13552	T	-5.72	0.87531	D	0.862	0.86511	-1.0816	0.07041	T	0.090	0.34463	T	9	0.010399312	0.00232	T	.	.	.	0.391	0.70684	0.702	0.83869	0.492681238296	0.48903	0.8995142763350309	0.89923	0.235828302199	0.26120	0.789819419384	0.80416	T	0.29648	0.66910	T	-0.19723	0.21206	T	-0.0398275	0.67712	D	0.113973629561013	0.13830	T	0.952605	0.89126	D	0.9451516	0.95772	0.90389454	0.95253	0.9451516	0.95772	0.90389454	0.95254	-10.018	0.74020	D	.	.	0.555	0.70560	A	.;.;.;.	.;.;.;.	4.796629	0.77901	26.8	0.99182944044415877	0.54730	0.96414	0.69021	D	AEFBHCI	0.962418	0.98401	D	0.719316317919881	0.80899	7.397685	0.707625754040046	0.82959	7.897625	0.999999991327404	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.27	5.27	0.73797	8.947000	0.92735	11.098000	0.86062	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.199	0.72808	489	0.76795	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1912.81	33	chr11	82853275	.	A	T	1912.81	.	AC=2;AF=0.053;AN=38;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.98;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1940,198,0	18	1	0	0
chr11	93727325	93727325	A	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.A6849T:p.E2283D	.	430	1090	2	0	0	2	0.00091659	.	.	.	2329331	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0419547572408	.	0.000199681	0.0002	0	0	0	0	0.0002	0.0041	0.0001	5.82e-05	9	154602	rs536161119	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	9.746e-05	0.0022	0.0018	0.0002	0.0004	3.972e-05	2.8e-05	4.058e-05	0.0033	8.064e-05	0.0004	0.0002	0.0001	0.0001	8.991e-05	0.0001	0.0004	7.57e-05	6.276e-05	0.0001	8.877e-05	2.405e-05	0	6.533e-05	0	0	0	0	0.0002	0.0005	0.0004	0.152	0.24468	T	0.024	0.56640	D	0.033	0.20350	B	0.04	0.23831	B	.	.	.	.	0.999192	0.21520	N	.	.	.	2.47	0.14783	T	-1.08	0.42384	N	0.096	0.07673	-1.0010	0.29631	T	0.036	0.15422	T	9	0.02487868	0.00701	T	0.041955	0.60207	D	0.070	0.20419	0.065	0.00293	0.0297737177859	0.01360	0.03516648478343382	0.03463	0.0761191393141	0.08543	0.277140378952	0.07097	T	0.023427	0.33181	T	-0.464445	0.00922	T	-0.610085	0.11978	T	0.0195697123576953	0.00660	T	0.686031	0.31167	T	0.06442637	0.13669	0.06335805	0.12537	0.06442637	0.13668	0.06335805	0.12537	-3.759	0.20194	T	.	.	0.123	0.26138	B	.;.;.	.;.;.	0.800298	0.11711	8.289	0.98407243204458605	0.41137	0.30881	0.24196	N	AEFDBCI	0.089272	0.18095	N	-0.739033509159682	0.14933	0.7481676	-0.763552604265894	0.15390	0.8091603	0.999556424343267	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.31	1.53	0.22224	0.364000	0.20053	1.530000	0.27153	0.691000	0.84096	0.295000	0.25279	0.329000	0.24363	0.101000	0.18331	0.6794:0.1544:0.1662:0.0	5.048	0.13834	836	0.38045	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2890.81	33	chr11	93727325	.	A	T	2890.81	.	AC=2;AF=0.053;AN=38;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.75;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2918,282,0	18	1	0	0
chr11	108512066	108512066	C	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.G2877T:p.M959I,EXPH5:NM_001144764:exon4:c.G2973T:p.M991I,EXPH5:NM_001144763:exon6:c.G3213T:p.M1071I,EXPH5:NM_015065:exon6:c.G3441T:p.M1147I,EXPH5:NM_001308019:exon7:c.G3420T:p.M1140I	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	433	1079	9	1	0	11	0.00507146	.	.	.	701549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00356705609164	0.0042	0.00319489	0.0044	0.0014	0.0010	0.0005	0.0011	0.0061	0.0011	0.0057	0.0044049	681	154602	rs34012545	0.0058	0.0058	0.0057	0.0058	0.0066	0.0057	0.0056	0.0065	0.0064	0.0011	0.0012	0.0068	5.04e-05	0.0013	0.0009	0.0066	0.0046	0.0053	0.0040	0.0040	0.0041	0.0039	0.0066	0.0037	0.0036	0.0061	0.0059	0.0015	0	0.0022	0.0037	0	0.0014	0.0034	0.0066	0.0033	0.0048	0.436	0.09374	T	0.306	0.19972	T	.	.	.	.	.	.	0.367039	0.13584	N	0.702507	1	0.08975	N	.	.	.	4.39	0.03836	T	-0.47	0.16393	N	0.04	0.03613	-0.9843	0.33998	T	0.004	0.01470	T	10	0.0038924813	0.00074	T	0.003567	0.08154	T	0.029	0.06676	0.154	0.05752	0.115124310173	0.11017	0.0948001730633443	0.09412	0.0431053341588	0.04645	0.230860114098	0.02032	T	0.017766	0.14435	T	-0.667682	0.00057	T	-0.726587	0.04483	T	0.00373458209670396	0.00040	T	0.354665	0.08016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.36495	B	.;.;.;.	.;.;.;.	-2.261242	0.00056	0.001	0.61618362058428144	0.06754	0.01714	0.05438	N	AEFDGBIJ	0.085099	0.17251	N	-1.89915804497989	0.00345	0.01480627	-2.00668450028868	0.00297	0.01309371	0.999999999857309	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.77	-11.5	0.00057	-2.639000	0.00938	-2.204000	0.04061	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.5143:0.0:0.2895	8.088	0.29948	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	4409.81	33	chr11	108512066	.	C	A	4409.81	.	AC=2;AF=0.053;AN=38;DP=1271;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.18;SOR=1.196	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4437,388,0	18	1	0	0
chr11	125625863	125625863	C	T	exonic	CHEK1	.	nonsynonymous SNV	CHEK1:NM_001330427:exon1:c.C103T:p.R35C	.	428	1083	11	0	0	11	0.00505282	.	.	.	3216565	CHEK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	.	0.00139776	0.0032	0	0.0109	0	.	0.0011	0	0.0040	0.0004463	69	154602	rs544839853	0.0013	0.0011	0.0011	0.0014	0.0034	0.0012	0.0012	0.0030	0.0029	0.0003	0.0003	0	0	0.0011	0.0002	0.0013	0.0012	0.0034	0.0008	0.0008	0.0008	0.0009	0.0064	0.0007	0.0007	0.0046	0.0040	0.0002	0	0.0002	0	0	0.0013	0	0.0010	0.0009	0.0064	0.655	0.04772	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19599	N	.	.	.	-0.52	0.70717	T	1.03	0.01350	N	0.149	0.15187	-1.0255	0.21919	T	0.144	0.46678	T	8	0.0039245784	0.00075	T	.	.	.	0.094	0.27141	.	.	0.208816687407	0.20498	0.48049560190341034	0.47969	.	.	.	.	.	0.005898	0.05345	T	-0.445626	0.01198	T	-0.41436	0.31723	T	0.0200695194389658	0.00708	T	0.50025	0.15636	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26325	B	.	.	-0.706666	0.01305	0.070	0.86492095057984453	0.16572	0.01254	0.04408	N	ALL	0.055339	0.10140	N	-1.95553406493676	0.00263	0.01128709	-2.10052835730378	0.00186	0.008185585	1.0	0.98316	0.024636	0.00146	3	0.374146	0.05931	1	0.239995	0.05000	1	0.003489	0.00041	3	.	.	3.32	-6.65	0.01630	-9.832000	0.00012	-8.945000	0.00890	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2116:0.3267:0.2417:0.22	0.902	0.01196	534	0.73357	Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1775.33	43	chr11	125625863	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=868;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.388;SOR=0.779	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1789,0,1743	18	0	1	0
chr11	129910541	129910541	T	G	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_199439:exon14:c.A2699C:p.Q900P,PRDM10:NM_001367898:exon15:c.A2840C:p.Q947P,PRDM10:NM_001367896:exon16:c.A2249C:p.Q750P,PRDM10:NM_001367899:exon16:c.A2852C:p.Q951P,PRDM10:NM_199438:exon16:c.A2813C:p.Q938P,PRDM10:NM_001367895:exon17:c.A2210C:p.Q737P,PRDM10:NM_001367897:exon17:c.A2261C:p.Q754P,PRDM10:NM_001367890:exon18:c.A2750C:p.Q917P,PRDM10:NM_001367891:exon18:c.A3038C:p.Q1013P,PRDM10:NM_001367894:exon18:c.A2711C:p.Q904P,PRDM10:NM_199437:exon19:c.A3098C:p.Q1033P,PRDM10:NM_001367892:exon20:c.A3044C:p.Q1015P,PRDM10:NM_001367893:exon20:c.A3071C:p.Q1024P,PRDM10:NM_020228:exon20:c.A3110C:p.Q1037P	.	426	1081	15	0	0	15	0.00689022	.	.	.	2810023	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00596931075526	0.0032	0.00199681	0.0029	0.0005	0.0012	0	0.0005	0.0044	0.0022	0.0021	0.0027425	424	154602	rs141740226	0.0032	0.0032	0.0032	0.0032	0.0109	0.0031	0.0031	0.0088	0.0080	0.0009	0.0020	0.0167	2.52e-05	0.0003	0.0109	0.0033	0.0038	0.0023	0.0022	0.0022	0.0022	0.0021	0.0031	0.0020	0.0019	0.0027	0.0026	0.0005	0	0.0018	0.0161	0	0.0004	0.0068	0.0031	0.0043	0.0006	0.038	0.42783	D	0.074	0.54159	T	0.0	0.07471	B	0.0	0.04355	B	0.091753	0.20309	N	0.493708	0.73427	0.33752	D	.	.	.	2.82	0.11730	T	-0.78	0.21644	N	0.314	0.42541	-1.0421	0.16681	T	0.014	0.05608	T	10	0.00473091	0.00100	T	0.005969	0.15579	T	0.019	0.03383	.	.	0.0675242888579	0.06100	0.42662894743604407	0.42579	0.124582783249	0.14036	0.408897936344	0.26304	T	.	.	.	-0.477599	0.00764	T	-0.461865	0.26397	T	0.0368363451973109	0.03126	T	0.692831	0.31953	T	.	.	.	.	.	.	.	.	-5.186	0.39546	T	.	.	0.066	0.10014	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.530675	0.19640	14.36	0.95152553367378334	0.26288	0.93304	0.57859	D	AEFDBI	0.614196	0.60160	D	-0.693359907043692	0.16210	0.8238372	-0.620561445937764	0.18965	1.015487	0.0132424540917667	0.12437	0.372202	0.05800	0	0.546412	0.12157	0	0.0	0.00061	3	0.491896	0.07777	0	.	.	2.46	1.21	0.20240	1.834000	0.38811	3.274000	0.37181	0.474000	0.21982	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:0.4354:0.5646	7.513	0.26752	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	1	0	1	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1339.33	33	chr11	129910541	.	T	G	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.33;DP=740;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.875;SOR=0.773	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1353,0,1370	18	0	1	0
chr12	440847	440847	C	T	exonic	CCDC77	.	nonsynonymous SNV	CCDC77:NM_001130148:exon10:c.C1075T:p.R359C,CCDC77:NM_001130146:exon11:c.C1075T:p.R359C,CCDC77:NM_001130147:exon11:c.C1075T:p.R359C,CCDC77:NM_032358:exon12:c.C1171T:p.R391C	.	424	1095	2	1	0	4	0.00182315	.	.	.	2232483	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.600	0.0907674534802	0.0002	.	0.0002	0.0003	0.0003	0	0	0.0002	0	0.0001	0.0001682	26	154602	rs189099875	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	0.0010	0.0002	0.0003	0	0	0.0023	0.0001	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0005	0.0007	0	0.0003	0.0003	0.0002	0	0	0.0001	0.0009	0.0002	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	2.93	0.84523	M	0.94	0.43672	T	-6.64	0.92217	D	0.895	0.89577	-0.4938	0.68872	T	0.301	0.67186	T	10	0.7383708	0.74781	D	0.090767	0.75580	D	0.600	0.84183	.	.	0.774308684376	0.77223	0.6546196050560958	0.65397	0.663425507112	0.59016	0.55380409956	0.46394	T	0.264434	0.63620	T	-0.0120314	0.49981	T	0.142465	0.79705	D	0.228057179184192	0.21859	T	0.957904	0.84151	D	0.6612568	0.75966	0.5845807	0.75912	0.6612568	0.75967	0.5845807	0.75913	-12.318	0.86366	D	.	.	0.314	0.54056	B	.;.;.;.;.	.;.;.;.;.	5.588512	0.92361	32	0.99939326189141597	0.99734	0.98702	0.85770	D	AEFGBI	0.928926	0.91389	D	0.761255138797781	0.83638	8.069557	0.707104900528462	0.82918	7.887658	0.999999999910354	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	7.670000	0.82907	7.545000	0.60160	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:1.0:0.0:0.0	20.080	0.97768	460	0.78750	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	492.33	38	chr12	440847	.	C	T	492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=696;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=1.05;SOR=1.155	GT:AD:DP:GQ:PL	0/1:49,21:70:99:506,0,1292	18	0	1	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|1:42,18:60:99:0|1:4591261_G_C:193,0,717:4591261	5	0	14	0
chr12	10723070	10723072	GGT	-	exonic	YBX3	.	nonframeshift deletion	YBX3:NM_001145426:exon1:c.40_42del:p.T14del,YBX3:NM_003651:exon1:c.40_42del:p.T14del	.	450	1037	7	1	27	36	0.00432069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0541	0.00379393	0	.	.	.	.	.	.	.	0.0004226	11	26028	rs758440804	0.0004	0.0043	0.0004	0.0005	0.0022	0.0004	0.0004	0.0014	0.0011	0.0006	0.0022	0.0015	0.0014	0.0011	0.0014	0.0004	0.0006	0.0006	8.626e-05	0.0002	7.78e-05	9.513e-05	0.0004	5.004e-05	3.999e-05	0.0001	8.33e-05	0.0001	0	0.0003	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	43.33	12	chr12	10723069	.	GGGT	G	43.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.689;DP=270;ExcessHet=0;FS=0;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=0.66;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:57:57,0,372	18	0	1	0
chr12	11091839	11091839	C	T	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.G391A:p.V131M	.	459	1026	32	5	0	42	0.0200573	.	.	.	2810184	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0050	0.00399361	0.0046	0.0011	0.0035	0	0.0005	0.0066	0.0126	0.0033	0.0039909	617	154602	rs186718859	0.0049	0.0046	0.0049	0.0049	0.0390	0.0048	0.0048	0.0348	0.0332	0.0013	0.0053	0.0234	2.529e-05	0.0003	0.0390	0.0047	0.0080	0.0036	0.0050	0.0045	0.0051	0.0050	0.0115	0.0047	0.0046	0.0100	0.0094	0.0010	0	0.0115	0.0294	0	0.0001	0.0483	0.0059	0.0072	0.0031	0.225	0.18626	T	0.189	0.28575	T	0.795	0.44777	P	0.714	0.54635	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	5.7	0.00742	T	-1.21	0.30762	N	0.088	0.06587	-0.8727	0.50326	T	0.003	0.00961	T	9	0.01653698	0.00349	T	.	.	.	0.023	0.04649	.	.	0.21737058555	0.21362	0.11926794117223397	0.11853	0.187907574998	0.21116	0.252214491367	0.04005	T	0.008581	0.07868	T	-0.338172	0.05515	T	-0.723537	0.04626	T	0.0180244596414497	0.00526	T	0.860814	0.55431	D	0.067621015	0.14658	0.085668504	0.19797	0.067621015	0.14658	0.085668504	0.19796	-5.353	0.40464	T	.	.	0.142	0.31304	B	.	.	-0.316511	0.02545	0.307	0.95792710937999048	0.27836	0.00158	0.00946	N	AEFI	0.024026	0.01424	N	-0.703983466663494	0.15909	0.8059916	-0.940122615972782	0.11153	0.5664451	7.70814022812138E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	1.97	-0.0553	0.13141	-2.257000	0.01262	-20.000000	0.00162	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5586:0.0:0.4413	3.892	0.08627	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.042510	0.070707	0.051630	0.045181	0.050000	0.068966	0.021341	0.011364	0.02632	3101.33	188	chr12	11091839	.	C	T	3101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=2718;ExcessHet=0;FS=2.767;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.69;MQRankSum=2.4;QD=12.21;ReadPosRankSum=-1.765;SOR=0.878	GT:AD:DP:GQ:PL	0/1:131,123:254:99:3115,0,3401	18	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6757.31	90	chr12	11092088	.	G	*	6757.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.327;DP=2086;ExcessHet=16.4124;FS=7.478;InbreedingCoeff=-0.579;MLEAC=1;MLEAF=0.026;MQ=56.71;MQRankSum=-9.401;QD=3.93;ReadPosRankSum=0.388;SOR=1.232	GT:AD:DP:GQ:PL	0/1:64,56:126:99:2129,0,2797	18	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:99,16:115:71:71,0,2941	13	0	6	0
chr12	39650324	39650324	G	A	exonic	C12orf40	.	nonsynonymous SNV	C12orf40:NM_001031748:exon7:c.G656A:p.R219Q,C12orf40:NM_001319247:exon7:c.G656A:p.R219Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00354099606835	0.0003	.	0.0002	0	0.0004	0	0	0.0004	0	6.361e-05	0.0002264	35	154602	rs200733049	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	3e-05	0.0002	0	0	1.875e-05	0.0007	0.0002	0.0002	1.165e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	2.421e-05	0	6.575e-05	0	0	0	0	0.0004	0	0	1.0	0.00964	T	0.834	0.03674	T	0.0	0.02946	B	0.0	0.01387	B	0.388006	0.13296	N	0.619559	1	0.08975	N	-0.35	0.03145	N	0.94	0.43672	T	1.34	0.00900	N	0.065	0.03726	-1.0110	0.26604	T	0.034	0.14596	T	10	0.019990593	0.00454	T	0.003541	0.08062	T	0.012	0.01476	.	.	0.0611884634855	0.05136	0.01546020332161207	0.01502	0.0176890567249	0.01721	.	.	.	2.42E-4	0.00052	T	-0.603635	0.00139	T	-0.759918	0.03115	T	0.0240507976092609	0.01152	T	0.431557	0.11736	T	0.0217631	0.00797	0.029846579	0.01368	0.0217631	0.00797	0.029846579	0.01368	-3.177	0.12202	T	.	.	0.064	0.01715	B	.;.	.;.	0.052640	0.04656	1.310	0.23164937465904289	0.00967	0.00113	0.00716	N	AEFI	0.013967	0.00205	N	-1.76007597784149	0.00650	0.0280592	-1.73989617102066	0.00972	0.04353702	1.95085298612087E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.53	-0.953	0.09834	0.381000	0.20348	0.933000	0.22794	-1.474000	0.01067	0.017000	0.19353	0.000000	0.08366	0.545000	0.30055	0.4804:0.1919:0.3277:0.0	3.925	0.08760	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1226.81	33	chr12	39650324	.	G	A	1226.81	.	AC=2;AF=0.053;AN=38;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=25.56;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1254,144,0	18	1	0	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|1:27,16:43:99:0|1:39764776_G_C:237,0,552:39764776	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|1:27,16:43:99:0|1:39764776_G_C:237,0,552:39764776	14	0	4	1
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	25341.8	1018	chr12	40483220	.	T	A	25341.8	.	AC=2;AF=0.053;AN=38;DP=13577;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.93;QD=27.66;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,611:611:99:1|1:40483220_T_A:25369,1837,0:40483220	18	1	0	0
chr12	40483902	40483902	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	967	8	0	0	8	0.00411946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs796546299	0.0001	0.0001	0.0001	0.0001	0.0019	9.984e-05	9.226e-05	0.0009	0.0007	0.0003	0	0	0	0	0.0019	8.137e-05	0.0003	0.0013	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0006	0.0002	0	0.0004	0	0.0002	0	0	0.0003	0.0006	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	.	.	.	.	.	.	.	.	0.05556	23549.6	889	chr12	40483902	.	C	T	23549.6	.	AC=2;AF=0.056;AN=36;DP=12692;ExcessHet=0;FS=0;InbreedingCoeff=0.7859;MLEAC=2;MLEAF=0.056;MQ=59.92;QD=32.62;SOR=0.774	GT:AD:DP:GQ:PL	1/1:0,722:722:99:23576,2166,0	17	1	0	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1679,50:1730:99:.:.:7707,0,69454:.	8	0	11	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	3652.71	674	chr12	40488250	.	A	T	3652.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.91;DP=11353;ExcessHet=0;FS=7.631;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.06;MQRankSum=-15.75;QD=4.17;ReadPosRankSum=-8.836;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:735,140:875:99:0|1:40488222_A_G:3666,0,30441:40488222	17	0	1	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	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	.	.	.	.	.	.	.	.	0.02778	1202.71	674	chr12	40488255	.	G	T	1202.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.12;DP=11285;ExcessHet=0;FS=50.904;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.19;MQRankSum=-12.35;QD=1.49;ReadPosRankSum=-8.893;SOR=7.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:726,81:807:99:0|1:40488222_A_G:1216,0,30241:40488222	17	0	1	1
chr12	40488262	40488262	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	600	919	3	0	0	3	0.00162955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243397229	0	7.332e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0054	0.0009	0.0012	0.0092	0.0009	0.0008	0.0078	0.0073	0.0002	0	0.0092	0	0.0009	0.0010	0	6.866e-05	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	62.71	674	chr12	40488262	.	A	G	62.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=10.61;DP=11437;ExcessHet=0;FS=33.576;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.63;MQRankSum=-12.79;QD=0.07;ReadPosRankSum=-8.842;SOR=6.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:829,57:886:76:0|1:40488222_A_G:76,0,30575:40488222	17	0	1	1
chr12	40488858	40488858	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	573	912	7	23	7	60	0.0282365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374519651	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0096	0.0010	0.0008	0.0014	0.0008	0.0007	0.0009	0.0007	0.0005	0	0.0014	0.0007	0.0008	0.0028	0	0.0009	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	789.55	933	chr12	40488858	.	C	A	789.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.28;DP=13370;ExcessHet=0;FS=14.736;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=59.81;MQRankSum=-4.783;QD=0.87;ReadPosRankSum=-9.584;SOR=2.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:825,79:904:99:0|1:40488830_A_G:802,0,34374:40488830	15	0	1	3
chr12	40488861	40488861	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	581	906	7	23	5	58	0.0284182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1475609431	0	5.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0063	0.0006	0.0005	0.0008	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0008	0.0003	0.0005	0.0019	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	298.55	933	chr12	40488861	.	G	C	298.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=4.84;DP=13344;ExcessHet=0;FS=19.058;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=59.81;MQRankSum=-3.384;QD=0.34;ReadPosRankSum=-9.568;SOR=2.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:821,67:888:99:0|1:40488830_A_G:311,0,34243:40488830	15	0	1	3
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	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	.	.	.	.	.	.	.	.	0.05882	14570.4	920	chr12	40490978	.	G	A	14570.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=4.78;DP=12604;ExcessHet=0;FS=28.951;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.059;MQ=59.71;MQRankSum=2.98;QD=28.74;ReadPosRankSum=5.82;SOR=0.294	GT:AD:DP:GQ:PL	1/1:24,483:507:99:14596,1046,0	16	1	0	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	0/1:131,19:152:99:.:.:392,0,5501:.	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|1:137,19:156:99:0|1:40509056_G_*:385,0,5655:40509056	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|1:136,19:155:99:0|1:40509056_G_*:388,0,5653:40509056	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|1:136,19:155:99:0|1:40509056_G_*:388,0,5653:40509056	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|1:125,19:144:99:0|1:40509076_G_*:422,0,5161:40509076	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|1:127,19:146:99:0|1:40509076_G_*:416,0,5205:40509076	5	0	5	9
chr12	45851364	45851364	G	C	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon15:c.G3241C:p.A1081P,ARID2:NM_152641:exon15:c.G3241C:p.A1081P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0204898321053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.032	0.53788	D	0.999	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	0.5	0.55608	T	-1.18	0.31375	N	0.666	0.80767	-0.6209	0.63951	T	0.267	0.63802	T	10	0.55411506	0.64420	D	0.02049	0.43095	T	0.262	0.57482	0.307	0.27806	0.435911362372	0.43211	0.5932185972973023	0.59251	0.662461532504	0.58977	0.772978186607	0.77870	T	0.021364	0.16647	T	0.135664	0.67909	D	-0.0429048	0.67505	D	0.803698023927007	0.46606	D	0.915608	0.71149	D	0.6806208	0.77003	0.6942057	0.81998	0.6806208	0.77004	0.6942057	0.81999	-3.11	0.11411	T	.	.	0.676	0.76349	P	.;.;.	.;.;.	5.048342	0.84074	28.2	0.99619865556731646	0.75353	0.98404	0.82430	D	AEFBCI	0.944266	0.95113	D	0.776176965053233	0.84596	8.332035	0.826112817599636	0.91548	10.94244	0.999999999609687	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.95	5.95	0.96415	9.317000	0.95419	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.379	0.98927	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	35	chr12	45851364	.	G	C	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.079;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.42;ReadPosRankSum=-1.165;SOR=0.711	GT:AD:DP:GQ:PL	0/1:230,56:286:99:993,0,6354	18	0	1	0
chr12	50396459	50396459	A	G	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon1:c.T26C:p.I9T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00908230438628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25979	T	0.549	0.09457	T	0.025	0.19245	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.86	0.10482	T	-0.82	0.22508	N	0.036	0.10626	-0.9408	0.42489	T	0.015	0.05849	T	9	0.054100126	0.05708	T	0.009082	0.23893	T	0.043	0.11576	0.185	0.09388	0.0138822411134	0.00435	0.005928623130936676	0.00561	.	.	0.474755704403	0.35335	T	0.005312	0.04761	T	-0.368557	0.03668	T	-0.767183	0.02862	T	0.0873320775556339	0.10898	T	0.361264	0.08331	T	0.031973258	0.03136	0.03974185	0.04138	0.031973258	0.03136	0.03974185	0.04137	-3.255	0.13164	T	.	.	0.065	0.02702	B	.;.	.;.	-1.704713	0.00193	0.003	0.96795323545760958	0.31128	0.01059	0.03935	N	AEFBCI	0.058544	0.10992	N	-1.5846716741024	0.01343	0.05851015	-1.72278163550802	0.01040	0.046677	0.999999999836059	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.56	-9.11	0.00607	-3.002000	0.00716	-4.153000	0.02312	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1672:0.0:0.4904:0.3424	5.998	0.18732	317	0.87119	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1131.33	45	chr12	50396459	.	A	G	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.922;DP=729;ExcessHet=0;FS=0.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-2.84;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1145,0,805	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	0/1:67,15:88:61:61,0,1358	7	0	10	2
chr12	51915298	51915298	C	A	exonic	ACVRL1	.	nonsynonymous SNV	ACVRL1:NM_001077401:exon6:c.C846A:p.H282Q,ACVRL1:NM_000020:exon7:c.C846A:p.H282Q	Telangiectasia, hereditary hemorrhagic, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.46180602428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.16198	T	0.448	0.18286	T	0.978	0.58756	D	0.658	0.52749	P	0.000251	0.46924	D	0.000000	0.945595	0.41204	D	1.32	0.33002	L	-3.2	0.93231	D	-0.86	0.23590	N	0.36	0.40164	0.314	0.87770	D	0.721	0.90440	D	10	0.5241899	0.62814	D	0.461806	0.94526	D	0.479	0.77012	0.303	0.27164	0.896824283825	0.89580	0.6898534164270208	0.68925	1.09570461557	0.77565	0.633803606033	0.57684	T	0.498696	0.82002	T	0.0780814	0.61815	D	-0.125618	0.61339	T	0.787656009197235	0.45537	D	0.80342	0.46506	T	0.43000278	0.62752	0.21392795	0.45923	0.43000278	0.62753	0.21392795	0.45922	-7.157	0.55172	T	.	.	0.200	0.49731	B	.;.;.	.;.;.	1.550374	0.19873	14.48	0.91579608809975854	0.20861	0.51845	0.28991	D	AEFDBCI	0.511172	0.53992	D	-0.532523517719019	0.21036	1.113378	-0.603291575764728	0.19408	1.041147	0.999999973622636	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	5.31	-3.77	0.04062	-1.258000	0.02973	-6.858000	0.01288	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.986000	0.61781	0.0:0.3621:0.0:0.6379	13.712	0.62153	473	0.77910	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic 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	.	.	.	.	.	.	.	.	0.02632	4950.33	38	chr12	51915298	.	C	A	4950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=1049;ExcessHet=0;FS=2.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.134;SOR=0.584	GT:AD:DP:GQ:PL	0/1:200,192:392:99:4964,0,4656	18	0	1	0
chr12	53299799	53299799	C	T	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C62T:p.T21I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00763810955466	0.0004	0.00199681	0.0014	0.0004	0.0002	0	0	0.0003	0	0.0085	0.001216	188	154602	rs138986768	0.0006	0.0006	0.0004	0.0009	0.0072	0.0006	0.0006	0.0068	0.0066	0.0007	0.0004	0	0	1.873e-05	0.0035	0.0002	0.0010	0.0072	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0045	0.0005	0	0	0	0	0	0	0.0002	0.0005	0.0070	0.021	0.49117	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.060189	0.02130	N	1.921390	1	0.19599	N	0.345	0.11182	N	1.0	0.41392	T	-0.42	0.14193	N	0.13	0.12484	-1.0250	0.22083	T	0.058	0.24317	T	10	0.003104955	0.00052	T	0.007638	0.20272	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.3777003793617032	0.37685	0.161219827377	0.18198	.	.	.	0.074533	0.34960	T	-0.635653	0.00088	T	-0.680439	0.06957	T	0.002566478180763	0.00027	T	0.458254	0.13193	T	0.050026316	0.08975	0.06833154	0.14257	0.050026316	0.08974	0.06833154	0.14257	-4.501	0.30902	T	.	.	0.115	0.22861	B	.	.	0.440373	0.08107	4.834	0.92249702680281398	0.21629	0.02084	0.06195	N	ALL	0.141607	0.26383	N	-1.32281383607669	0.03415	0.1525198	-1.34068077621244	0.03916	0.1836955	0.999999999999691	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-1.21	0.09033	-0.091000	0.11111	-0.278000	0.10292	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4484:0.2802:0.2714	5.448	0.15843	703	0.57489	.	.	.	.	.	.	Likely benign	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	0.009146	0.000000	0.02632	1982.33	40	chr12	53299799	.	C	T	1982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=1046;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.133;SOR=0.761	GT:AD:DP:GQ:PL	0/1:70,76:146:99:1996,0,1772	18	0	1	0
chr12	55682056	55682056	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C302T:p.P101L	.	428	1068	25	1	0	27	0.0124827	.	.	.	2807068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.164	.	0.0016	0.00339457	0.0039	0.0007	0.0018	0	0.0012	0.0031	0.0066	0.0139	0.0036351	562	154602	rs74421938	0.0033	0.0033	0.0029	0.0036	0.0132	0.0032	0.0032	0.0126	0.0123	0.0003	0.0014	0.0077	0.0001	0.0013	0.0061	0.0027	0.0041	0.0132	0.0025	0.0025	0.0022	0.0028	0.0124	0.0023	0.0022	0.0099	0.0090	0.0002	0	0.0027	0.0104	0.0004	0.0008	0.0170	0.0032	0.0024	0.0124	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.056709	1	0.81001	D	2.395	0.69210	M	2.72	0.11947	T	-8.76	0.97728	D	0.338	0.46368	-1.1192	0.02383	T	0.089	0.34243	T	10	0.005673617	0.00126	T	.	.	.	0.164	0.42212	.	.	0.19168177325	0.18762	0.7348329751165945	0.73428	0.194749562008	0.21814	0.3963291049	0.24558	T	0.122517	0.51904	T	-0.286182	0.10023	T	-0.172181	0.57243	T	0.0387949447783039	0.03473	T	0.914708	0.69569	D	0.70939714	0.78574	0.76081944	0.85868	0.70939714	0.78576	0.76081944	0.85869	-9.442	0.70498	D	.	.	0.140	0.42990	B	.;.	.;.	4.743244	0.76508	26.5	0.99884078234488494	0.95970	0.80138	0.39856	D	AEFDBCI	0.883580	0.81260	D	0.603211661679791	0.73378	5.956283	0.573433445571181	0.73041	5.906074	0.999999997461108	0.74766	0.446893	0.09132	0	0.475579	0.06741	0	0.043771	0.00183	3	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	2.511000	0.45137	.	.	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.995000	0.73285	0.0:1.0:0.0:0.0	15.78	0.78023	725	0.54935	Methyltransferase type 11;Methyltransferase type 11	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.034091	0.02632	2170.33	33	chr12	55682056	.	C	T	2170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=779;ExcessHet=0;FS=3.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.275;SOR=1.031	GT:AD:DP:GQ:PL	0/1:78,80:158:99:2184,0,2034	18	0	1	0
chr12	58876507	58876507	C	T	exonic	LRIG3	.	nonsynonymous SNV	LRIG3:NM_001136051:exon16:c.G2453A:p.S818N,LRIG3:NM_153377:exon16:c.G2633A:p.S878N	.	.	.	.	.	.	.	.	.	.	.	4163747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0278112974372	.	.	0.0001	0	0	0	0	4.51e-05	0	0.0006	9.06e-05	14	154602	rs200816582	8.072e-05	8.072e-05	5.853e-05	0.0001	0.0005	6.868e-05	6.42e-05	0.0004	0.0003	0	4.472e-05	0	0	1.872e-05	0	6.205e-05	4.967e-05	0.0005	3.283e-05	3.281e-05	1.285e-05	5.372e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.031	0.46129	D	0.05	0.48080	T	0.984	0.70673	D	0.84	0.76916	P	0.000483	0.43931	D	0.000000	0.999994	0.58761	D	2.57	0.75187	M	0.07	0.62459	T	-1.23	0.31170	N	0.622	0.63713	-0.2438	0.76526	T	0.445	0.78155	T	9	0.46730658	0.59649	T	0.027811	0.50574	D	0.235	0.53788	0.188	0.09776	0.772306252981	0.77022	0.6039344864518222	0.60324	0.64558191495	0.58000	0.513379335403	0.40695	T	0.258636	0.62981	T	-0.276711	0.11020	T	-0.292522	0.45510	T	0.332606777343663	0.26329	T	0.832517	0.50110	T	0.12006988	0.28260	0.14719625	0.34843	0.12006988	0.28260	0.14719625	0.34842	-4.242	0.28121	T	.	.	0.211	0.43855	B	.;.	.;.	4.583040	0.72416	25.8	0.99729266224389357	0.82619	0.99766	0.99310	D	AEFDGBI	0.908689	0.86431	D	0.79207979484605	0.85606	8.62694	0.794777127377371	0.89428	9.970794	0.999999999999992	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.75	5.75	0.90390	7.322000	0.78368	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.938	0.97146	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1572.33	35	chr12	58876507	.	C	T	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=734;ExcessHet=0;FS=5.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.774;SOR=0.97	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1586,0,1199	18	0	1	0
chr12	69927705	69927705	G	A	exonic	MYRFL	.	nonsynonymous SNV	MYRFL:NM_182530:exon15:c.G1787A:p.S596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0573170688497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.455	0.71248	M	2.13	0.19588	T	-1.63	0.39119	N	0.086	0.06322	-0.7576	0.57535	T	0.243	0.61107	T	6	0.17867932	0.32965	T	0.057317	0.66920	D	0.078	0.22779	.	.	0.222439326576	0.21863	0.35388294835534323	0.35302	.	.	.	.	.	0.027736	0.20247	T	-0.259459	0.12963	T	-0.610471	0.11947	T	0.333134130629374	0.26350	T	0.447055	0.12542	T	0.07980239	0.18251	0.22237156	0.47080	0.07980239	0.18250	0.22237156	0.47079	-6.449	0.49891	T	.	.	0.091	0.30022	B	.;.	.;.	2.528315	0.32681	19.12	0.98370045584322763	0.40740	0.75052	0.36731	D	AEFI	0.138666	0.26003	N	0.120758970824102	0.47433	2.968995	0.125880843249201	0.45878	2.843186	0.999529486584307	0.40175	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.77	2.95	0.33285	2.274000	0.43049	7.135000	0.57636	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.963000	0.52385	0.1829:0.0:0.8171:0.0	8.307	0.31207	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	302.33	41	chr12	69927705	.	G	A	302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.51;SOR=0.551	GT:AD:DP:GQ:PL	0/1:13,14:27:99:316,0,386	18	0	1	0
chr12	70556020	70556020	C	T	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon16:c.G3919A:p.V1307I,PTPRB:NM_001206972:exon16:c.G3919A:p.V1307I,PTPRB:NM_002837:exon17:c.G4189A:p.V1397I,PTPRB:NM_001330204:exon18:c.G4579A:p.V1527I,PTPRB:NM_001109754:exon19:c.G4843A:p.V1615I	.	422	1098	2	0	0	2	0.000909918	.	.	.	4063718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0042988024527	8.4e-05	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0004	0.0001876	29	154602	rs201518333	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0005	0.0005	8.961e-05	8.947e-05	0	2.519e-05	7.491e-05	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.24e-05	0	0	0	0	0.0002	0	0.0003	0	0.0004	0.468	0.12837	T	0.295	0.23231	T	0.0	0.09854	B	0.007	0.18140	B	0.000321	0.45700	N	0.187232	0.875556	0.29023	N	0.805	0.20218	L	0.6	0.53943	T	-0.2	0.11185	N	0.057	0.09772	-1.0181	0.24334	T	0.090	0.34491	T	10	0.020546228	0.00475	T	0.004299	0.10435	T	0.054	0.15330	.	.	0.200294437569	0.19612	0.18755189097923705	0.18673	0.341690153391	0.36107	0.304142385721	0.11022	T	0.039777	0.36587	T	-0.519395	0.00444	T	-0.655891	0.08546	T	0.0262892176668908	0.01445	T	0.851715	0.54045	D	0.036957677	0.04647	0.032378227	0.01963	0.036957677	0.04647	0.032378227	0.01963	-3.638	0.19259	T	.	.	0.062	0.01428	B	.;.;.;.;.	.;.;.;.;.	2.514646	0.32483	19.06	0.97958936760774351	0.37158	0.34680	0.25124	N	AEFBCI	0.115613	0.22724	N	-0.422986364322209	0.24666	1.333438	-0.255082516089416	0.29596	1.659424	0.98059218150485	0.30154	0.67177	0.52595	0	0.588015	0.36545	0	0.657636	0.52715	0	0.711	0.71501	0	.	.	5.56	4.6	0.56512	0.781000	0.26435	6.037000	0.52980	0.599000	0.40250	0.429000	0.26401	1.000000	0.68203	0.999000	0.91618	0.0:0.7505:0.0:0.2495	7.077	0.24388	735	0.53711	.;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	.	.	.	.	.	.	.	.	0.02632	1886.33	33	chr12	70556020	.	C	T	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.463;DP=797;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.561;SOR=0.668	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1900,0,1882	18	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	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	.	.	.	.	.	.	.	.	0.08824	141.02	37	chr12	76059802	.	A	G	141.02	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=1177;ExcessHet=0.3672;FS=203.377;InbreedingCoeff=-0.1169;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.53;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,16:122:18:0|1:76059802_A_G:18,0,3193:76059802	14	0	3	2
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	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	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.02632	1274.33	36	chr12	79621147	.	T	C	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.807;SOR=0.653	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1288,0,1213	18	0	1	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H,PPFIA2:NM_001220480:exon18:c.G902A:p.R301H,PPFIA2:NM_001220477:exon25:c.G3041A:p.R1014H,PPFIA2:NM_001220478:exon25:c.G3029A:p.R1010H,PPFIA2:NM_001282536:exon26:c.G2885A:p.R962H,PPFIA2:NM_001220475:exon27:c.G3281A:p.R1094H,PPFIA2:NM_001220473:exon28:c.G3344A:p.R1115H,PPFIA2:NM_001220474:exon28:c.G3299A:p.R1100H,PPFIA2:NM_001220476:exon28:c.G3326A:p.R1109H,PPFIA2:NM_003625:exon29:c.G3344A:p.R1115H	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	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	0.010574	0.010101	0.008152	0.005848	0.000000	0.017241	0.006098	0.034091	0.05263	2330.83	33	chr12	81268054	.	C	T	2330.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.4;DP=816;ExcessHet=0.119;FS=3.791;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.084;SOR=0.518	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1096,0,1004	17	0	2	0
chr12	95995846	95995880	AGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	-	exonic	HAL	.	frameshift deletion	HAL:NM_001258334:exon2:c.31_65del:p.E11Hfs*17,HAL:NM_002108:exon2:c.31_65del:p.E11Hfs*17	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2230.79	122	chr12	95995845	.	GAGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	G	2230.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=785;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.14;SOR=0.717	GT:AD:DP:GQ:PL	0/1:44,14:58:99:457,0,1782	17	0	2	0
chr12	96811767	96811767	C	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon64:c.C8882A:p.P2961H,CFAP54:NM_001367885:exon65:c.C9077A:p.P3026H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0468572394898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.313e-07	2.736e-06	1.444e-06	0	9.337e-07	0	0	.	.	0	0	0	0	0	0	9.337e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.825156	0.28832	N	.	.	.	.	.	.	-3.11	0.63669	D	0.261	0.29544	-0.5755	0.65795	T	0.264	0.63566	T	5	0.16611439	0.31029	T	0.046857	0.62653	D	0.112	0.31546	0.44	0.49484	0.168933306366	0.16529	0.22703069257864905	0.22618	0.0398156233558	0.04256	.	.	.	0.034361	0.23290	T	-0.112462	0.34361	T	-0.399321	0.33463	T	0.925714552402496	0.58759	D	0.518948	0.16858	T	0.13356996	0.31062	0.2065561	0.44875	0.13356996	0.31062	0.2065561	0.44874	-3.794	0.20715	T	.	.	0.224	0.45507	B	.	.	2.944148	0.39155	20.9	0.99297173292247853	0.58505	0.22810	0.21870	N	AEFBCI	0.051710	0.09163	N	-0.13030576273137	0.36077	2.080542	-0.173641637442517	0.32509	1.850258	0.999904925599649	0.45458	0.51972	0.21558	0	0.573888	0.26702	0	0.573888	0.23631	0	0.678554	0.66404	0	.	.	4.82	3.93	0.44666	0.901000	0.28075	3.765000	0.39732	0.599000	0.40250	0.483000	0.26824	0.995000	0.32472	0.008000	0.08271	0.0:0.9005:0.0:0.0995	9.117	0.35925	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1000.33	34	chr12	96811767	.	C	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.444;DP=725;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.754;SOR=0.497	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1014,0,1410	18	0	1	0
chr12	99244359	99244359	A	G	exonic	ANKS1B	.	nonsynonymous SNV	ANKS1B:NM_001352185:exon14:c.T2402C:p.M801T,ANKS1B:NM_001352186:exon14:c.T2402C:p.M801T,ANKS1B:NM_001352187:exon14:c.T2402C:p.M801T,ANKS1B:NM_001352188:exon14:c.T2402C:p.M801T,ANKS1B:NM_152788:exon14:c.T2402C:p.M801T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0437079885143	.	.	8.839e-06	0	0	0	0	1.601e-05	0	0	6.5e-06	1	154602	rs764579330	2.749e-06	4.104e-06	2.736e-06	2.763e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.057	0.46406	T	0.016	0.25775	B	0.01	0.31689	B	0.000614	0.42945	D	0.241095	0.993595	0.25386	N	0.69	0.16971	N	1.11	0.58176	T	-1.62	0.38924	N	0.464	0.52651	-0.8738	0.50241	T	0.184	0.53300	T	9	0.1844391	0.33818	T	0.043708	0.61120	D	0.057	0.16321	0.354	0.35408	0.296721761885	0.29290	0.47160456760976127	0.47079	0.0606122278648	0.06739	0.555436193943	0.46623	T	0.139803	0.47401	T	-0.0720804	0.40993	T	-0.341315	0.40196	T	0.179475992918015	0.19201	T	0.665633	0.27494	T	0.28289056	0.51324	0.278901	0.53855	0.28289056	0.51324	0.278901	0.53854	-3.486	0.16237	T	.	.	0.135	0.34094	B	.;.	.;.	2.878783	0.38092	20.7	0.77261841784473417	0.11803	0.97723	0.76668	D	AEFI	0.782533	0.71379	D	0.104342421549757	0.46665	2.903429	0.164385267383127	0.47908	3.014188	0.853413564312821	0.25087	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	4.660000	0.61206	11.104000	0.86182	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.114	0.64669	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	732.33	33	chr12	99244359	.	A	G	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=721;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=1.32;SOR=0.569	GT:AD:DP:GQ:PL	0/1:43,36:79:99:746,0,958	18	0	1	0
chr12	113387880	113387880	C	T	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon10:c.C1480T:p.R494C,PLBD2:NM_173542:exon11:c.C1576T:p.R526C	.	.	.	.	.	.	.	.	.	.	.	2337746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.607	0.218825007593	7.7e-05	.	5.768e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs145022094	3.625e-05	3.625e-05	3.675e-05	3.575e-05	0.0007	2.828e-05	2.565e-05	0.0005	0.0004	0.0007	6.708e-05	0	0	0	0.0002	1.259e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0002	0	0	0	0	1.47e-05	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999754	0.48800	D	3.45	0.92227	M	2.17	0.19020	T	-7.01	0.93764	D	0.891	0.92433	-0.6262	0.63731	T	0.180	0.52736	T	10	0.94950473	0.94283	D	0.218825	0.87677	D	0.607	0.84559	.	.	0.494232246516	0.49056	0.8996539834796611	0.89937	1.348062469	0.84020	0.578986823559	0.49943	T	0.159276	0.50265	T	-0.0209034	0.48725	T	0.0963601	0.76666	D	0.885174334049225	0.53548	D	0.974103	0.91418	D	0.5632241	0.70688	0.47274005	0.69435	0.5632241	0.70689	0.47274005	0.69436	-9.963	0.73690	D	.	.	0.391	0.59039	A	.;.	.;.	5.258686	0.88295	29.5	0.99933785547088949	0.99488	0.97828	0.77433	D	AEFDBI	0.648543	0.62332	D	0.6783880106647	0.78214	6.827134	0.57069917534058	0.72849	5.875087	0.00829195939589547	0.11648	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.93	3.99	0.45527	2.538000	0.45369	5.931000	0.51320	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.317000	0.24900	0.2469:0.753:0.0:0.0	14.023	0.64089	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1565.33	35	chr12	113387880	.	C	T	1565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.029;SOR=0.759	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1579,0,1127	18	0	1	0
chr12	116911218	116911218	G	A	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_153348:exon1:c.G181A:p.E61K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.203856805534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1196698457	9.121e-07	4.105e-06	0	1.921e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.259e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.159	0.31527	T	0.993	0.65571	D	0.956	0.69739	D	0.000886	0.41231	D	0.158496	0.795101	0.81001	D	1.5	0.37844	L	3.05	0.08721	T	-0.74	0.20791	N	0.18	0.19459	-1.0267	0.21527	T	0.032	0.13854	T	10	0.33771944	0.50889	T	0.203857	0.86898	D	0.124	0.34239	0.41	0.44559	0.549460442827	0.54601	.	.	0.187512237378	0.21068	0.930906176567	0.99038	D	0.268052	0.64013	T	-0.0308435	0.47295	T	-0.282081	0.46590	T	0.87755411863327	0.52746	D	0.663934	0.27277	T	0.23661341	0.46514	0.2475859	0.50292	0.23661341	0.46514	0.2475859	0.50291	-5.487	0.41747	T	.	.	.	.	.	.	.	4.294405	0.65523	24.8	0.99764137304508249	0.85335	0.28668	0.23616	N	ALL	0.128904	0.24686	N	0.205556830898867	0.51467	3.327796	0.179907483705352	0.48748	3.086527	0.999999999990406	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	4.11	4.11	0.47350	4.004000	0.56780	10.710000	0.83606	0.556000	0.28261	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:0.0:1.0:0.0	12.056	0.52834	955	0.09969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	329.33	18	chr12	116911218	.	G	A	329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=432;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.154;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,12:26:99:0|1:116911209_C_G:343,0,451:116911209	18	0	1	0
chr12	122976727	122976727	C	A	exonic	OGFOD2	.	nonsynonymous SNV	OGFOD2:NM_001304833:exon3:c.C263A:p.S88Y,OGFOD2:NM_024623:exon4:c.C83A:p.S28Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0433071290458	.	.	8.379e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750415092	6.842e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.15098	T	0.396	0.92824	T	0.834	0.46206	P	0.218	0.37679	B	0.962304	0.08215	N	0.986437	1	0.08975	N	2.015	0.55033	M	-2.13	0.86349	D	-1.2	0.44471	N	0.56	0.58458	-0.3131	0.74617	T	0.625	0.86792	D	10	0.18780735	0.34307	T	0.043307	0.60915	D	0.297	0.61730	0.298	0.26362	0.805687181342	0.80387	0.4964717508022247	0.49568	0.0868331768913	0.09792	0.475520074368	0.35440	T	0.065876	0.32801	T	-0.0828636	0.39248	T	-0.187676	0.55808	T	0.413287341594696	0.29440	T	0.721228	0.39853	T	0.03084842	0.02821	0.05692559	0.10258	0.03084842	0.02820	0.05692559	0.10257	-5.984	0.46146	T	.	.	0.098	0.58422	B	.;.;.	.;.;.	1.427091	0.18448	13.74	0.98991520286807411	0.49943	0.07367	0.13387	N	AEFDBCI	0.073940	0.14806	N	-0.116496148442952	0.36674	2.123055	-0.154390920172927	0.33240	1.899345	0.999989143352168	0.51787	0.706548	0.73137	0	0.672317	0.65289	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.67	3.78	0.42629	1.472000	0.34984	3.538000	0.38989	0.599000	0.40250	0.026000	0.20160	0.909000	0.28100	0.039000	0.14166	0.3542:0.429:0.2167:0.0	7.508	0.26727	241	0.90582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1712.33	38	chr12	122976727	.	C	A	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.347;DP=811;ExcessHet=0;FS=1.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.79;SOR=0.583	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1726,0,2091	18	0	1	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F,NCOR2:NM_001206654:exon11:c.C913T:p.L305F,NCOR2:NM_006312:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	72.57	45	chr12	124430757	.	G	A	72.57	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.588;DP=1776;ExcessHet=0.119;FS=186.628;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.99;MQRankSum=0;QD=0.23;ReadPosRankSum=0.497;SOR=9.994	GT:AD:DP:GQ:PL	0/1:110,45:155:70:70,0,1811	16	0	2	1
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5832.79	38	chr12	133057131	.	A	G	5832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.038;DP=1301;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.97;SOR=0.753	GT:AD:DP:GQ:PL	0/1:88,71:159:99:1688,0,2382	16	0	3	0
chr13	20512459	20512459	C	T	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.G133A:p.A45T,CRYL1:NM_015974:exon2:c.G133A:p.A45T	.	8	1513	1	0	0	1	0.00033036	.	.	.	3963091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.684	0.13183787148	.	.	3.474e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs756024227	1.574e-05	1.573e-05	1.089e-05	2.063e-05	0.0002	1.048e-05	8.76e-06	0.0002	0.0001	2.987e-05	0	0	0	0	0	8.996e-07	1.656e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.016	0.51853	D	0.018	0.59732	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-1.24	0.78967	T	-3.48	0.68651	D	0.582	0.60579	0.271	0.87081	D	0.604	0.85924	D	10	0.9133247	0.90696	D	0.131838	0.81411	D	0.684	0.88443	0.83	0.93978	0.797878369283	0.79599	0.6814738521243735	0.68086	0.427360445182	0.43082	0.446194142103	0.31424	T	0.62142	0.88139	D	-0.113914	0.34123	T	-0.105214	0.62990	T	0.631456673145294	0.37678	D	0.775922	0.40781	T	0.712079	0.78721	0.44074264	0.67382	0.712079	0.78723	0.44074264	0.67383	-7.263	0.55932	T	.	.	0.323	0.54696	B	.;.;.;.	.;.;.;.	3.547878	0.49856	22.8	0.98897260232116124	0.48109	0.89868	0.50617	D	AEFBI	0.761841	0.69944	D	0.474894390571694	0.65628	4.846515	0.380740400105772	0.60377	4.224711	0.99998256327878	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	5.35	4.5	0.54382	3.718000	0.54647	3.163000	0.36577	0.599000	0.40250	0.996000	0.39380	0.997000	0.33255	0.048000	0.15020	0.1469:0.8531:0.0:0.0	14.649	0.68388	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD 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	871.33	36	chr13	20512459	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.879;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.327;SOR=0.633	GT:AD:DP:GQ:PL	0/1:46,36:82:99:885,0,1115	18	0	1	0
chr13	20975348	20975348	T	C	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon8:c.A2789G:p.N930S	.	435	1081	6	0	0	6	0.00276753	.	.	.	753750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.0240998956226	.	0.00139776	0.0006	0	0.0003	0	0	9.409e-05	0	0.0048	0.0005757	89	154602	rs185845417	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0040	0	0.0003	0	0	0	0.0009	5.794e-05	0.0004	0.0046	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	9.618e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.006	0.12133	B	0.021850	0.26750	N	0.384153	0.71909	0.29940	N	0.61	0.15665	N	-0.08	0.63911	T	0.49	0.02993	N	0.036	0.01068	-0.9941	0.31538	T	0.100	0.37188	T	10	0.008112043	0.00184	T	0.024	0.47083	T	0.083	0.24192	.	.	0.385559283137	0.38164	0.16322622617497426	0.16242	0.472200504928	0.46459	0.373629629612	0.21352	T	0.032905	0.22686	T	-0.598536	0.00149	T	-0.632403	0.10234	T	0.00354309444312185	0.00037	T	0.826617	0.49005	T	0.035344232	0.04141	0.042726293	0.05155	0.032178	0.03192	0.0385344	0.03744	-3.657	0.18685	T	.	.	0.071	0.04002	B	.	.	0.872893	0.12455	8.991	0.54987936237805024	0.05249	0.63361	0.32066	D	AEFDBI	0.118120	0.23111	N	-0.867118602197746	0.11631	0.5623569	-0.706476609167311	0.16799	0.8903947	0.857795525687855	0.25167	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.96	-2.11	0.06787	0.210000	0.17249	-0.833000	0.07248	-0.139000	0.12461	0.975000	0.34726	0.009000	0.19889	0.958000	0.51230	0.0:0.6073:0.0:0.3927	13.987	0.63858	916	0.20744	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	991.33	33	chr13	20975348	.	T	C	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.371;SOR=0.704	GT:AD:DP:GQ:PL	0/1:42,36:78:99:1005,0,1229	18	0	1	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|1:232,75:307:99:0|1:25097005_A_G:2451,0,9516:25097005	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|1:232,75:307:99:0|1:25097005_A_G:2451,0,9516:25097005	7	0	12	0
chr13	25097840	25097840	G	A	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.G1642A:p.A548T	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00311820690249	0.0002	0.000399361	0.0004	0	0.0006	0	0	0.0001	0	0.0021	0.0003622	56	154602	rs144664628	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0015	0.0014	0	0.0002	0.0002	0	0	0.0024	5.666e-05	0.0002	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0009	0	0	9.422e-05	0	8.821e-05	0.0005	0.0015	0.034	0.44029	D	0.022	0.57587	D	0.946	0.53363	P	0.741	0.55725	P	0.000270	0.46590	U	0.000000	0.999956	0.52396	D	2.73	0.79844	M	0.68	0.51952	T	-3.46	0.67705	D	0.377	0.41853	-0.6925	0.60792	T	0.214	0.57547	T	10	0.030691624	0.01198	T	0.003118	0.06786	T	0.195	0.47612	.	.	0.849862203633	0.84841	0.3689139773879063	0.36805	0.475443501588	0.46719	0.57855963707	0.49882	T	0.160812	0.50481	T	-0.115078	0.33930	T	-0.403078	0.33025	T	0.234807255499918	0.22179	T	0.922208	0.71716	D	0.53119737	0.68899	0.343417	0.60053	0.53119737	0.68900	0.343417	0.60053	-5.721	0.43880	T	.	.	0.096	0.15430	B	.	.	1.924661	0.24443	16.40	0.99442095276376274	0.64820	0.87212	0.46684	D	AEFDBI	0.280518	0.39432	N	0.195321122889574	0.50973	3.282513	-0.0171879914428716	0.38939	2.301353	0.904557029819873	0.26181	0.693126	0.56070	0	0.659464	0.62310	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.963000	0.75848	7.652000	0.63756	0.356000	0.20028	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	7.549	0.26951	929	0.16858	Polyadenylate-binding protein/Hyperplastic disc protein|Polyadenylate-binding protein/Hyperplastic disc protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001082	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1618.33	205	chr13	25097840	.	G	A	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=2265;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.23;SOR=0.815	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1632,0,1867	18	0	1	0
chr13	40756891	40756891	G	A	exonic	MRPS31	.	nonsynonymous SNV	MRPS31:NM_005830:exon4:c.C722T:p.T241M	.	435	1037	47	3	0	53	0.0249177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0064	0.00399361	0.0079	0.0015	0.0036	0	0.0012	0.0106	0.0121	0.0110	0.0079753	1233	154602	rs1854421	0.0084	0.0084	0.0082	0.0085	0.0191	0.0082	0.0082	0.0162	0.0151	0.0016	0.0037	0.0080	0.0001	0.0022	0.0191	0.0090	0.0078	0.0121	0.0061	0.0061	0.0065	0.0056	0.0100	0.0058	0.0056	0.0093	0.0091	0.0015	0.0077	0.0039	0.0092	0	0.0012	0.0238	0.0100	0.0090	0.0099	0.158	0.23905	T	0.119	0.36101	T	0.986	0.61523	D	0.579	0.50152	P	0.206949	0.16459	N	0.621842	1	0.08975	N	2.24	0.63355	M	1.49	0.31470	T	-1.08	0.28084	N	0.06	0.03175	-1.0702	0.09370	T	0.064	0.26527	T	10	0.0032079816	0.00054	T	.	.	.	0.034	0.08419	.	.	0.165133752707	0.16062	0.3966433874673616	0.39579	0.0876846533766	0.09892	0.363172501326	0.19847	T	0.002963	0.02360	T	-0.605771	0.00134	T	-0.6306	0.10369	T	0.00946537645361175	0.00122	T	0.490351	0.15073	T	0.016366284	0.00193	0.02809085	0.01015	0.016366284	0.00193	0.02809085	0.01015	-4.536	0.31356	T	.	.	0.087	0.11027	B	.	.	1.271184	0.16702	12.71	0.99353054090889747	0.60656	0.08783	0.14661	N	AEFDGBCI	0.083124	0.16839	N	-0.32727193752275	0.28115	1.548149	-0.521361080291484	0.21574	1.167691	0.999991125211806	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.91	1.96	0.25203	-0.222000	0.09195	-0.189000	0.11056	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0972:0.3559:0.5468:0.0	7.500	0.26678	949	0.11373	.	.	.	.	.	rs1854421	Likely benign	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	0.018630	0.015152	0.005435	0.029240	0.000000	0.025862	0.033537	0.015152	0.02632	1525.33	34	chr13	40756891	.	G	A	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=820;ExcessHet=0;FS=1.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.297;SOR=0.836	GT:AD:DP:GQ:PL	0/1:83,68:151:99:1539,0,1850	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	0/1:95,38:139:99:.:.:331,0,2134:.	3	0	15	1
chr13	43881097	43881097	A	G	exonic	LACC1	.	nonsynonymous SNV	LACC1:NM_001128303:exon2:c.A112G:p.K38E,LACC1:NM_001350639:exon2:c.A112G:p.K38E,LACC1:NM_001350640:exon2:c.A112G:p.K38E,LACC1:NM_001350642:exon2:c.A112G:p.K38E,LACC1:NM_001350643:exon2:c.A112G:p.K38E,LACC1:NM_153218:exon2:c.A112G:p.K38E,LACC1:NM_001350638:exon3:c.A112G:p.K38E,LACC1:NM_001350641:exon3:c.A112G:p.K38E	.	433	1080	9	0	0	9	0.00414938	.	.	.	725494	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0034	0.00219649	0.0058	0.0008	0.0012	0	0.0246	0.0068	0.0044	0.0038	0.0052457	811	154602	rs34414396	0.0055	0.0055	0.0055	0.0055	0.0052	0.0054	0.0053	0.0051	0.0050	0.0007	0.0014	0.0018	2.52e-05	0.0282	0.0028	0.0052	0.0040	0.0041	0.0048	0.0048	0.0039	0.0058	0.0058	0.0045	0.0044	0.0043	0.0041	0.0006	0	0.0022	0.0020	0	0.0297	0.0034	0.0047	0.0019	0.0058	0.395	0.13479	T	0.675	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.072790	0.21387	N	0.511596	0.999998	0.08975	N	2.175	0.60977	M	0.95	0.43279	T	-0.13	0.09627	N	0.162	0.21449	-1.0605	0.11632	T	0.060	0.25018	T	10	0.0053784847	0.00118	T	.	.	.	0.104	0.29647	.	.	0.431712495121	0.42787	0.28450446295816195	0.28363	0.461506570512	0.45687	0.335830688477	0.15814	T	0.007549	0.06949	T	-0.477375	0.00766	T	-0.45602	0.27033	T	0.0119601001583902	0.00188	T	0.627737	0.33447	T	0.1015104	0.23978	0.08226611	0.18761	0.07075277	0.15611	0.08226611	0.18761	-3.595	0.17785	T	0.07325505011400221	0.03075	0.072	0.17445	B	.;.;.	.;.;.	1.879642	0.23878	16.18	0.97710371371446192	0.35489	0.71929	0.35227	D	AEFDBIJ	0.202722	0.32929	N	-0.262925345493585	0.30590	1.707147	-0.129642830760159	0.34201	1.964689	0.99999791795644	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.590023	0.30420	0	0.655142	0.61905	0	.	.	5.86	4.7	0.58776	2.697000	0.46727	4.637000	0.44139	0.756000	0.94297	0.959000	0.33545	0.999000	0.35428	0.150000	0.20306	0.7632:0.1592:0.0776:0.0	7.235	0.25240	889	0.27310	.;.;.	.	.	.	.	.	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	1	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1273.33	34	chr13	43881097	.	A	G	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.441;DP=741;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-2.007;SOR=0.433	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1287,0,1542	18	0	1	0
chr13	45713572	45713572	C	A	exonic	CBY2	.	nonsynonymous SNV	CBY2:NM_001286341:exon2:c.C466A:p.R156S,CBY2:NM_001286342:exon3:c.C439A:p.R147S,CBY2:NM_152719:exon3:c.C547A:p.R183S	.	.	.	.	.	.	.	.	.	.	.	3292145	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0679079979989	0.0012	0.00119808	0.0009	9.66e-05	0.0009	0	0	0.0014	0	0	0.0009444	146	154602	rs147259767	0.0011	0.0011	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0013	0.0002	0.0005	0.0002	0	0.0003	0.0003	0.0013	0.0013	1.159e-05	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0009	0	0	9.427e-05	0	0.0013	0.0019	0	0.01	0.58626	D	0.024	0.92824	D	0.97	0.90584	D	0.894	0.88582	P	0.000103	0.50451	D	0.000000	0.99377	0.25038	N	2.125	0.59049	M	0.28	0.59449	T	-3.14	0.64019	D	0.788	0.78451	-0.7696	0.56879	T	0.258	0.62912	T	10	0.0147639215	0.00310	T	0.067908	0.70302	D	0.231	0.53208	.	.	0.705647642926	0.70308	0.7047793862376633	0.70419	1.17107731969	0.79766	0.351107656956	0.18084	T	0.388875	0.74945	T	-0.0963427	0.37028	T	0.0534557	0.73811	D	0.0840429810987086	0.10496	T	0.820618	0.51127	T	0.2258207	0.45251	0.23641934	0.48913	0.2258207	0.45251	0.23641934	0.48912	-7.047	0.54515	T	.	.	0.825	0.81833	P	.;.;.;.	.;.;.;.	2.488418	0.32099	18.94	0.99516780362242618	0.68979	0.50353	0.28643	D	AEFDBI	0.081089	0.16403	N	0.0892634740405616	0.45963	2.84415	0.0108818818535089	0.40219	2.39679	0.188760102776262	0.17972	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.1	3.34	0.37357	0.032000	0.13620	1.079000	0.23874	0.599000	0.40250	0.013000	0.18845	0.994000	0.32194	0.121000	0.19209	0.3176:0.6824:0.0:0.0	11.759	0.51161	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1498.33	35	chr13	45713572	.	C	A	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.069;SOR=0.724	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1512,0,1485	18	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	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	0/1:63,26:89:99:140,0,1036	11	0	8	0
chr13	51739117	51739117	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon7:c.G667A:p.V223I	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0052	0.00359425	0.0023	0.0150	0.0023	0	0	0.0009	0.0011	0.0017	0.0021539	333	154602	rs77486739	0.0012	0.0013	0.0012	0.0012	0.0143	0.0012	0.0012	0.0132	0.0128	0.0143	0.0024	0.0013	0	1.875e-05	0.0137	0.0007	0.0031	0.0016	0.0049	0.0049	0.0052	0.0047	0.0142	0.0046	0.0045	0.0133	0.0129	0.0142	0	0.0041	0.0012	0	0	0.0102	0.0010	0.0062	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049499	0.999829	0.49512	D	0.77	0.19370	N	0.42	0.56937	T	0.3	0.04091	N	0.099	0.08088	-1.0401	0.17283	T	0.062	0.25994	T	10	0.006444901	0.00146	T	.	.	.	0.111	0.31313	.	.	0.436780212511	0.43300	0.03989879060847398	0.03935	0.292032833551	0.31608	0.546645700932	0.45383	T	0.011824	0.10494	T	-0.547364	0.00303	T	-0.547351	0.17580	T	0.019515675990676	0.00655	T	0.818018	0.47523	T	0.0341658	0.03783	0.054201543	0.09276	0.0341658	0.03782	0.054201543	0.09275	-0.516	0.00593	T	.	.	0.059	0.00861	B	.	.	2.512268	0.32452	19.05	0.38941181998068136	0.02657	0.89001	0.49211	D	AEFBI	0.280583	0.39437	N	-0.0793378337852234	0.38299	2.241043	0.16210152155543	0.47785	3.003696	0.999999999245909	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	6.17	5.32	0.75377	5.889000	0.69508	8.565000	0.77582	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2059:0.0:0.7941:0.0	7.247	0.25302	906	0.23090	WD40 repeat, conserved site|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	0.012588	0.035354	0.019022	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	2562.33	36	chr13	51739117	.	G	A	2562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=814;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.682;SOR=0.842	GT:AD:DP:GQ:PL	0/1:65,105:170:99:2576,0,1414	18	0	1	0
chr13	52666823	52666823	G	T	exonic	SUGT1	.	nonsynonymous SNV	SUGT1:NM_006704:exon10:c.G531T:p.L177F,SUGT1:NM_001130912:exon11:c.G627T:p.L209F,SUGT1:NM_001320831:exon11:c.G363T:p.L121F	.	551	963	8	0	0	8	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00576076264561	0.0035	0.000798722	0.0025	0.0006	0.0010	0	0.0002	0.0029	0.0011	0.0056	0.0025291	391	154602	rs61756205	0.0033	0.0034	0.0032	0.0034	0.0061	0.0033	0.0032	0.0057	0.0055	0.0005	0.0014	0.0026	2.531e-05	7.497e-05	0.0051	0.0035	0.0039	0.0061	0.0022	0.0022	0.0024	0.0020	0.0062	0.0020	0.0019	0.0045	0.0039	0.0005	0	0.0010	0.0032	0.0004	9.445e-05	0	0.0038	0.0009	0.0062	0.057	0.37966	T	0.05	0.48080	T	0.619	0.39896	P	0.56	0.49558	P	0.592256	0.05599	N	1.188910	0.958196	0.38063	D	.	.	.	2.6	0.13204	T	-1.25	0.32185	N	0.253	0.28849	-1.0792	0.07504	T	0.037	0.15899	T	10	0.009181619	0.00207	T	0.005761	0.14952	T	0.062	0.17934	0.476	0.55342	0.286597616719	0.28274	0.21078365366090696	0.20994	0.247179053754	0.27258	0.264652371407	0.05457	T	0.042866	0.26319	T	-0.569865	0.00222	T	-0.58832	0.13810	T	0.0078939103063255	0.00093	T	0.886111	0.61235	D	0.09944877	0.23471	0.10406746	0.24986	0.09944877	0.23471	0.10406746	0.24985	-3.999	0.26112	T	.	.	0.078	0.06756	B	.;.	.;.	2.450495	0.31553	18.78	0.99845688687991452	0.92576	0.76444	0.37492	D	AEFDBI	0.150325	0.27460	N	-0.108227706341432	0.37034	2.148884	-0.0231716745570974	0.38671	2.281653	0.946194921208954	0.27695	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	3.42	0.38259	0.381000	0.20348	4.484000	0.43545	0.676000	0.76740	0.689000	0.28522	1.000000	0.68203	0.999000	0.91618	0.2101:0.0:0.6586:0.1312	6.131	0.19426	356	0.85138	CS domain|CS 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	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.015152	0.02632	443.33	34	chr13	52666823	.	G	T	443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=653;ExcessHet=0;FS=3.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=2.05;SOR=1.27	GT:AD:DP:GQ:PL	0/1:19,16:35:99:457,0,451	18	0	1	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	0/1:82,33:120:52:52,0,1204	6	0	13	0
chr13	85795037	85795037	G	C	exonic	SLITRK6	.	nonsynonymous SNV	SLITRK6:NM_032229:exon2:c.C1472G:p.T491R	Deafness and myopia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1301308	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.01223739269	0.0002	0.000199681	8.316e-05	0	0	0	0	9.017e-05	0	0.0002	7.12e-05	11	154602	rs368750148	3.012e-05	3.01e-05	2.179e-05	3.852e-05	0.0002	2.283e-05	2.033e-05	7.999e-05	6.237e-05	0	2.242e-05	0.0005	0	0	0.0002	1.44e-05	3.314e-05	0.0001	1.974e-05	1.969e-05	2.574e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0.0002	0.014	0.53172	D	0.046	0.49120	D	0.213	0.30041	B	0.129	0.32841	B	0.000060	0.53742	U	0.074880	0.969242	0.38715	D	0.265	0.09922	N	0.52	0.55266	T	-0.13	0.08971	N	0.503	0.53532	-1.0106	0.26729	T	0.074	0.29992	T	10	0.08997515	0.15632	T	0.012237	0.30635	T	0.137	0.36984	.	.	0.73033700423	0.72794	0.4305051493616038	0.42967	0.065577792844	0.07314	0.411857426167	0.26713	T	0.071351	0.34187	T	-0.239376	0.15428	T	-0.321944	0.42362	T	0.0810691057432755	0.10124	T	0.782722	0.41876	T	0.16124848	0.36122	0.27068144	0.52962	0.16124848	0.36121	0.27068144	0.52961	-1.798	0.02503	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	2.215402	0.28270	17.74	0.98130205537269322	0.38514	0.88428	0.48351	D	AEFBI	0.366248	0.45413	N	-0.157690963137104	0.34909	1.998521	0.0580875118004083	0.42465	2.568905	0.281578503435276	0.18994	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.86	5.0	0.66209	3.003000	0.49192	5.813000	0.50023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.144:0.7065:0.1494	10.603	0.44567	973	0.05605	.;.;.	.	.	.	.	.	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	1412.33	40	chr13	85795037	.	G	C	1412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.833;DP=880;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.003;SOR=0.823	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1426,0,1786	18	0	1	0
chr13	112068785	112068785	-	GGGCGC	exonic	SOX1	.	nonframeshift insertion	SOX1:NM_005986:exon1:c.1127_1128insGGGCGC:p.G381_V382insAG	.	441	1078	3	0	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs895161167	2.64e-05	3.081e-05	3.56e-05	1.635e-05	0.0005	1.807e-05	1.549e-05	0.0003	0.0002	0.0001	0.0001	0	4.259e-05	0	0	9.198e-06	7.464e-05	0.0005	3.431e-05	3.344e-05	2.681e-05	4.217e-05	0.0005	1.303e-05	8.29e-06	8.012e-05	3.36e-05	5.041e-05	0	0	0	0	0	0	1.523e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1226.29	33	chr13	112068785	.	A	AGGGCGC	1226.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.059;DP=705;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.04;ReadPosRankSum=0.193;SOR=1.263	GT:AD:DP:GQ:PL	0/1:20,31:51:99:1240,0,707	18	0	1	0
chr14	18601706	18601706	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G590A:p.G197E	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00462199078438	.	.	0.0007	0.0010	0.0095	0	0	0.0002	0	0	3.84e-05	1	26028	rs748013299	1.098e-05	0.0003	1.092e-05	1.103e-05	0.0002	6.5e-06	5.26e-06	0.0001	7.382e-05	0	0.0001	0	0.0002	0	0	9.001e-07	0	1.162e-05	0.0004	0.0020	0.0003	0.0005	0.0032	0.0003	0.0003	0.0025	0.0022	4.961e-05	0	0.0032	0	0.0010	0	0	7.505e-05	0.0005	0.0009	0.069	0.35537	T	0.399	0.15059	T	0.781	0.44300	P	0.43	0.45392	B	0.000707	0.42254	D	0.000000	.	.	.	1.675	0.43121	L	8.8	0.00050	T	-4.77	0.80425	D	0.122	0.11340	-1.0080	0.27541	T	0.000	0.00114	T	9	0.011298597	0.00248	T	0.004622	0.11440	T	0.065	0.18881	.	.	0.404793603054	0.40094	0.06917515607333054	0.06855	3.52078213034	0.99770	0.306855976582	0.11431	T	0.014086	0.12058	T	-0.250975	0.13978	T	-0.598285	0.12955	T	0.146298558948791	0.16805	T	0.518348	0.16810	T	0.35167694	0.57197	0.23873909	0.49204	0.35167694	0.57197	0.23873909	0.49203	-7.202	0.55496	T	.	.	0.128	0.27283	B	.	.	2.292536	0.29327	18.09	0.86779382392739934	0.16767	0.00328	0.01715	N	AEFI	0.026172	0.01919	N	-0.831145875182917	0.12519	0.6107228	-1.03730447137808	0.08973	0.4439269	1.23754932233703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.252000	0.02990	.	.	0.221000	0.18078	0.000000	0.06391	0.978000	0.30204	0.210000	0.22183	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	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	.	.	.	.	.	.	.	.	0.05263	142.83	252	chr14	18601706	.	G	A	142.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.53;DP=5179;ExcessHet=0.119;FS=14.272;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.7;MQRankSum=-2.711;QD=0.27;ReadPosRankSum=1.45;SOR=2.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,25:227:76:0|1:18601706_G_A:76,0,7089:18601706	17	0	2	0
chr14	19413371	19413371	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.G1392T:p.E464D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0012850884948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455494252	0.0007	0.0012	0.0005	0.0010	0.0077	0.0007	0.0007	0.0072	0.0069	9.939e-05	0.0002	0	0.0001	0.0001	0.0025	0.0003	0.0008	0.0077	0.0001	0.0005	0.0001	0.0001	0.0021	6.691e-05	5.081e-05	0.0007	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	0.475	0.12072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.66	0.19085	N	0.089	0.06720	-1.0548	0.13093	T	0.050	0.21378	T	8	0.0747537	0.11466	T	0.001285	0.01759	T	.	.	0.261	0.20473	0.0934897674506	0.08844	0.011699981048302372	0.01129	.	.	0.731519818306	0.71728	T	0.003934	0.03343	T	-0.198075	0.21082	T	-0.522298	0.20062	T	0.156079471010915	0.17578	T	0.686031	0.29438	T	0.047692206	0.08195	0.07661035	0.16986	0.047692206	0.08194	0.07661035	0.16985	-4.393	0.29462	T	.	.	0.134	0.29060	B	.	.	0.704465	0.10733	7.423	0.98525236240178171	0.42520	0.00743	0.03099	N	AEFI	0.031355	0.03337	N	-1.07052320312634	0.07191	0.3333102	-1.28723328962108	0.04602	0.2174681	1.18907660551628E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-0.621	0.10984	-0.917000	0.04134	-1.365000	0.05612	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5474:0.0:0.4526	4.013	0.09117	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	.	.	.	.	.	.	.	.	0.07895	74.69	16	chr14	19413371	.	C	A	74.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.963;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=0.511;MLEAC=2;MLEAF=0.053;MQ=25.46;MQRankSum=-0.985;QD=4.15;ReadPosRankSum=1.41;SOR=0.169	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0	17	1	1	0
chr14	19713214	19713214	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C703A:p.L235I	.	490	1002	29	0	1	30	0.0142646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0043	0.0183	0.0016	0.0007	0.0061	0.0021	0.0055	0.0079	0.0005379	14	26028	rs11625510	0.0006	0.0020	0.0005	0.0007	0.0081	0.0006	0.0006	0.0073	0.0070	0.0081	0.0014	7.672e-05	0.0001	0.0001	0.0024	0.0002	0.0012	0.0037	0.0035	0.0071	0.0034	0.0036	0.0100	0.0033	0.0032	0.0091	0.0088	0.0100	0	0.0041	0.0003	0.0010	0.0007	0	0.0003	0.0041	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	0.63811	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014848262	0.00312	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.038699843034994984	0.03815	.	.	0.206101313233	0.00656	T	0.017617	0.14339	T	-0.365507	0.03828	T	-0.291687	0.45596	T	.	.	.	0.435056	0.11905	T	0.043666393	0.06845	0.06603164	0.13469	0.043666393	0.06844	0.06603164	0.13468	-7.403	0.56926	T	.	.	0.106	0.19639	B	.;.	.;.	1.839262	0.23369	15.99	0.48104264887094	0.03987	0.02495	0.06976	N	AEFI	.	.	.	.	.	.	.	.	.	1.96441500582416E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0629501	0.15071	1.26	1.26	0.20534	-0.278000	0.08523	-5.907000	0.01557	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.0:0.755:0.0	3.672	0.07814	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	.	.	.	.	.	.	.	.	0.02632	187.37	34	chr14	19713214	.	G	T	187.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.754;DP=1380;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.026;MQ=34.33;MQRankSum=-6.017;QD=1.51;ReadPosRankSum=-0.056;SOR=0.539	GT:AD:DP:GQ:PL	0/1:102,22:124:99:201,0,2860	18	0	1	0
chr14	19713291	19713291	C	-	exonic	OR11H2	.	frameshift deletion	OR11H2:NM_001197287:exon2:c.626delG:p.R209Kfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401744051	2.056e-06	7.593e-05	0	4.132e-06	1.161e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.995e-07	1.662e-05	1.161e-05	3.962e-05	0.0003	3.876e-05	4.053e-05	0.0001	1.723e-05	1.134e-05	6.354e-05	4.346e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	177.29	38	chr14	19713290	.	TC	T	177.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.669;DP=1471;ExcessHet=0;FS=11.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.15;MQRankSum=-5.908;QD=0.85;ReadPosRankSum=-0.363;SOR=1.055	GT:AD:DP:GQ:PL	0/1:187,21:208:99:191,0,6869	18	0	1	0
chr14	19747905	19747905	C	T	exonic	OR4Q3	.	stopgain	OR4Q3:NM_172194:exon1:c.C478T:p.Q160X	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.0113818	0.0026	0.0282	0.0008	0	0	0.0001	0	0	0.0024903	385	154602	rs148505982	0.0009	0.0009	0.0010	0.0007	0.0276	0.0008	0.0008	0.0261	0.0255	0.0276	0.0017	0	0	0	0.0024	0.0001	0.0018	5.797e-05	0.0077	0.0078	0.0078	0.0075	0.0266	0.0073	0.0071	0.0253	0.0247	0.0266	0	0.0024	0	0.0002	0	0.0034	0.0002	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	0.001761	0.38106	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030817	0.55833	T	0.291087	0.87740	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	6.924380	0.95919	35	0.99487010235797213	0.67235	0.16191	0.19273	N	AEFDGBI	0.082030	0.16605	N	0.522073976205488	0.68396	5.211554	0.235996061905137	0.51857	3.364689	0.00807351794646084	0.11605	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	4.09	0.47038	3.112000	0.50061	2.463000	0.32863	0.533000	0.24879	0.700000	0.28626	0.987000	0.30940	0.326000	0.25110	0.0:1.0:0.0:0.0	13.833	0.62885	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.005539	0.015152	0.009511	0.011696	0.000000	0.000000	0.003049	0.000000	0.02632	1346.33	141	chr14	19747905	.	C	T	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.228;DP=1480;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.64;MQRankSum=1.44;QD=12.95;ReadPosRankSum=-1.418;SOR=0.588	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1360,0,1507	18	0	1	0
chr14	19876428	19876428	A	T	exonic	OR4K2	.	nonsynonymous SNV	OR4K2:NM_001005501:exon1:c.A161T:p.H54L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0059	0.00539137	0.0018	0.0191	0.0003	0	0	0.0002	0	0	0.0017076	264	154602	rs74036118	0.0006	0.0007	0.0007	0.0005	0.0178	0.0006	0.0006	0.0166	0.0161	0.0178	0.0014	0	0	0	0.0017	0.0001	0.0014	1.159e-05	0.0057	0.0060	0.0059	0.0056	0.0190	0.0054	0.0053	0.0179	0.0175	0.0190	0	0.0039	0	0	0	0.0102	0.0002	0.0033	0	0.039	0.42487	D	0.057	0.46406	T	0.116	0.26475	B	0.065	0.27321	B	0.002330	0.36766	N	0.123171	0.845397	0.35134	D	2.55	0.74443	M	5.69	0.00751	T	-5.88	0.88699	D	0.448	0.48596	-0.8591	0.51327	T	0.003	0.00800	T	10	0.0065841377	0.00149	T	.	.	.	0.104	0.29647	.	.	0.328486982098	0.32448	0.15399412467077245	0.15321	5.08262435259E-4	0.00050	0.296897798777	0.09940	T	0.009546	0.08688	T	-0.554798	0.00273	T	-0.555426	0.16808	T	0.0563045708789412	0.06573	T	0.186181	0.01938	T	0.49189937	0.66616	0.51393944	0.71914	0.49189937	0.66617	0.51393944	0.71915	-8.58	0.64957	D	.	.	0.105	0.21239	B	.;.	.;.	1.941003	0.24650	16.48	0.96662175057187705	0.30632	0.75693	0.37074	D	AEFGI	0.299047	0.40820	N	-0.234228494735922	0.31737	1.782641	-0.177056793046204	0.32381	1.841749	0.999880927980581	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	0.421000	0.20999	0.191000	0.15744	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	1.0:0.0:0.0:0.0	13.419	0.60436	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.020202	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	4120.33	58	chr14	19876428	.	A	T	4120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=1100;ExcessHet=0;FS=1.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=-0.452;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,108:222:99:0|1:19876428_A_T:4134,0,4348:19876428	18	0	1	0
chr14	19921154	19921154	G	A	exonic	OR4K5	.	nonsynonymous SNV	OR4K5:NM_001005483:exon1:c.G548A:p.R183Q	.	.	.	.	.	.	.	.	.	.	.	4039374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.000665119172751	.	0.000199681	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs201033872	1.3e-05	1.3e-05	1.497e-05	1.1e-05	5.797e-05	8.31e-06	6.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	1.079e-05	3.312e-05	5.797e-05	3.284e-05	3.938e-05	2.57e-05	4.03e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.375e-05	0	0	0	0	0.0006	9.436e-05	0	0	0	0.0002	0.162	0.23541	T	0.378	0.16086	T	0.063	0.23376	B	0.015	0.17295	B	0.000793	0.41772	D	0.000000	1	0.08975	N	-0.87	0.01450	N	8.89	0.00028	T	-1.26	0.31778	N	0.039	0.01274	-1.1110	0.02985	T	0.000	0.00075	T	10	0.015964955	0.00335	T	6.65E-4	0.00367	T	0.055	0.15663	.	.	0.302459207581	0.29844	0.08018285344812794	0.07953	0.00140046893544	0.00121	0.275553047657	0.06881	T	0.003798	0.03212	T	-0.423214	0.01632	T	-0.664166	0.07988	T	0.0743787512183189	0.09253	T	0.148285	0.01234	T	0.053210735	0.10035	0.0560865	0.09957	0.053210735	0.10034	0.0560865	0.09956	-0.016	0.00355	T	.	.	0.105	0.19235	B	.	.	1.450039	0.18706	13.88	0.98266358286926114	0.39713	0.03706	0.08988	N	AEFGBI	0.048905	0.08393	N	-0.961993278872579	0.09425	0.4460011	-0.886933696879711	0.12403	0.6377822	0.395110280044594	0.20081	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.52	1.39	0.21325	-1.643000	0.02106	-13.138000	0.00477	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.0922:0.0:0.4085:0.4993	5.875	0.18072	988	0.01987	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	3966.33	33	chr14	19921154	.	G	A	3966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=942;ExcessHet=0;FS=1.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=1.17;SOR=0.626	GT:AD:DP:GQ:PL	0/1:97,137:234:99:3980,0,2302	18	0	1	0
chr14	21670301	21670301	A	G	exonic	OR4E1	.	nonsynonymous SNV	OR4E1:NM_001317107:exon1:c.T635C:p.V212A	.	991	528	2	1	0	4	0.00377358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36526787	0.53050	T	.	.	.	.	.	.	.	.	.	0.1284989547647132	0.12774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657134	0.26688	T	0.1312475	0.30600	0.45712894	0.68450	0.1312475	0.30600	0.45712894	0.68451	-5.155	0.38481	T	.	.	0.127	0.26947	B	.;.	.;.	3.220571	0.43878	21.8	0.85991361281497047	0.16243	0.97785	0.77116	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999150532037893	0.38592	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.801169	0.47434	4.61	4.61	0.56724	5.061000	0.64149	6.439000	0.55649	0.756000	0.94297	0.307000	0.25387	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.100	0.58628	759	0.50631	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1637.33	34	chr14	21670301	.	A	G	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=1544;ExcessHet=0;FS=1.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.283;SOR=0.822	GT:AD:DP:GQ:PL	0/1:94,64:158:99:1651,0,2597	18	0	1	0
chr14	23166412	23166412	C	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon2:c.G280A:p.A94T	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	0.387689154592	0.0012	0.00199681	0.0020	0.0002	0.0008	0	0	0.0019	0.0011	0.0065	0.0018176	281	154602	rs139927895	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	0.0001	0.0005	0.0010	0	0.0002	0.0066	0.0011	0.0018	0.0067	0.0012	0.0012	0.0010	0.0013	0.0099	0.0010	0.0010	0.0077	0.0069	4.812e-05	0	0.0011	0.0014	0	0.0002	0.0034	0.0015	0.0009	0.0099	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	-2.84	0.96627	D	-3.87	0.72710	D	0.974	0.98466	1.081	0.98923	D	0.945	0.98187	D	10	0.024234027	0.00966	T	0.387689	0.93117	D	0.944	0.98851	.	.	0.964823795932	0.96444	0.8698954390141063	0.86954	0.629356187497	0.56977	0.763663351536	0.76475	T	0.909111	0.98275	D	0.221776	0.75943	D	0.549096	0.95606	D	0.0682530187562695	0.08404	T	0.981102	0.99030	D	0.66472256	0.76151	0.70855004	0.82812	0.6528424	0.75517	0.6968559	0.82149	-9.879	0.73184	D	.	.	0.714	0.73529	P	.;.;.	.;.;.	5.176175	0.86775	29.0	0.99931617124976724	0.99387	0.98040	0.79094	D	AEFBI	0.947660	0.95846	D	0.936903531390315	0.93447	12.04533	0.89314823391669	0.95268	13.46263	1.0	0.98316	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.49	5.49	0.81022	7.858000	0.85341	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.514	0.90878	876	0.30350	.;.;.	.	.	.	.	.	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	0.007560	0.000000	0.006793	0.005848	0.000000	0.017241	0.009202	0.003788	0.05263	3078.83	33	chr14	23166412	.	C	T	3078.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.643;DP=888;ExcessHet=0.119;FS=0.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.84;SOR=0.762	GT:AD:DP:GQ:PL	0/1:83,57:140:99:1345,0,2136	17	0	2	0
chr14	23645172	23645172	C	T	exonic	DHRS2	.	nonsynonymous SNV	DHRS2:NM_182908:exon9:c.C773T:p.S258L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00886401262002	.	0.000199681	0.0002	0	0.0004	0.0005	0	2.997e-05	0	0.0005	0.0001358	21	154602	rs558436886	0.0001	0.0001	0.0001	9.488e-05	0.0007	8.847e-05	8.333e-05	0.0005	0.0005	5.974e-05	0.0002	0	0.0003	0	0	6.025e-05	8.28e-05	0.0007	8.536e-05	8.529e-05	0.0001	6.713e-05	0.0006	4.954e-05	3.96e-05	0.0002	9.011e-05	4.811e-05	0	6.534e-05	0	0.0002	0	0	8.82e-05	0	0.0006	0.391	0.10802	T	0.609	0.07716	T	.	.	.	.	.	.	0.692613	0.10162	N	0.795303	0.97475	0.39131	D	.	.	.	-1.48	0.81150	T	1.66	0.00606	N	0.166	0.17553	-0.9439	0.41992	T	0.218	0.58020	T	9	0.020032942	0.00455	T	0.008864	0.23366	T	0.399	0.71321	.	.	0.139678290688	0.13603	0.1459171788504563	0.14513	0.0174981928054	0.01705	0.236807972193	0.02510	T	.	.	.	-0.273067	0.11418	T	-0.262426	0.48582	T	0.0219045419432725	0.00898	T	0.490951	0.15096	T	.	.	.	.	.	.	.	.	-3.44	0.15600	T	.	.	0.099	0.16626	B	.;.	.;.	0.363834	0.07365	3.984	0.91366743019149177	0.20631	0.04348	0.09914	N	AEFBHCI	0.024398	0.01506	N	-1.2147734013554	0.04785	0.2166982	-1.32834398779745	0.04068	0.1911046	0.999999995566432	0.74766	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.586402	0.36253	0	.	.	4.03	-7.3	0.01298	-2.886000	0.00780	-12.295000	0.00536	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.939000	0.47918	0.2156:0.1711:0.0:0.6133	6.645	0.22122	800	0.44535	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1987.33	35	chr14	23645172	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.232;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.602;SOR=0.657	GT:AD:DP:GQ:PL	0/1:77,80:157:99:2001,0,1858	18	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	681.04	170	chr14	24300437	.	G	C	681.04	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-4.585;DP=2057;ExcessHet=1.3;FS=376.992;InbreedingCoeff=-0.281;MLEAC=7;MLEAF=0.269;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.41;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,35:131:99:.:.:118,0,2272:.	8	0	5	6
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N,MAP4K5:NM_198794:exon19:c.G1419C:p.K473N	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.023098	0.029240	0.000000	0.051724	0.033537	0.018939	0.02632	940.33	36	chr14	50443957	.	C	G	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.333;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.46;SOR=0.633	GT:AD:DP:GQ:PL	0/1:62,46:108:99:954,0,1533	18	0	1	0
chr14	52020065	52020065	T	C	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon13:c.A2788G:p.I930V	.	427	1091	4	0	0	4	0.00182983	.	.	.	2810420	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.0402641274966	0.0015	0.000599042	0.0014	0	0.0003	0	0	0.0025	0	6.056e-05	0.0014036	217	154602	rs144774059	0.0018	0.0018	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0006	0.0092	0	0.0002	0.0010	0.0020	0.0017	0.0002	0.0013	0.0013	0.0014	0.0013	0.0019	0.0012	0.0011	0.0016	0.0015	0.0004	0	0.0010	0.0081	0	0.0002	0.0034	0.0019	0.0033	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.901360	0.07357	N	1.040490	1	0.08975	N	-0.315	0.03579	N	-1.58	0.81987	D	0.13	0.05503	N	0.051	0.02272	-0.8417	0.52533	T	0.192	0.54492	T	10	0.004845947	0.00103	T	0.040264	0.59280	D	0.197	0.47942	.	.	0.241664281697	0.23763	0.15844484038310688	0.15765	0.0748853827465	0.08398	0.274481266737	0.06734	T	0.134608	0.46595	T	-0.487849	0.00668	T	-0.479085	0.24544	T	0.00740674200592554	0.00085	T	0.129387	0.01014	T	0.025367992	0.01468	0.022839013	0.00302	0.025367992	0.01468	0.022839013	0.00302	-1.6	0.01982	T	.	.	0.086	0.10642	B	.;.	.;.	0.163792	0.05541	1.999	0.40594292780866481	0.02875	0.03370	0.08468	N	AEFBI	0.102703	0.20596	N	-1.74406768782915	0.00697	0.03009167	-1.77840712667811	0.00831	0.03710387	0.999999999956619	0.74766	0.661447	0.50134	0	0.547309	0.14657	0	0.644132	0.48003	0	0.563494	0.21769	0	.	.	5.42	-10.8	0.00171	-0.842000	0.04462	-0.032000	0.12782	-0.132000	0.13132	0.000000	0.06391	0.785000	0.26813	0.498000	0.28972	0.2218:0.3516:0.0778:0.3488	2.945	0.05487	895	0.25842	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1518.33	36	chr14	52020065	.	T	C	1518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.707;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.708;SOR=0.741	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1532,0,1254	18	0	1	0
chr14	52432318	52432318	A	C	exonic	TXNDC16	.	nonsynonymous SNV	TXNDC16:NM_001160047:exon21:c.T2449G:p.S817A,TXNDC16:NM_020784:exon21:c.T2464G:p.S822A	.	601	908	9	4	0	17	0.00927441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00399361	0.0025	9.694e-05	0.0002	0	0	0.0002	0	0.0188	0.0021216	328	154602	rs144886303	0.0012	0.0012	0.0007	0.0017	0.0162	0.0012	0.0011	0.0155	0.0152	0.0001	0.0002	0.0015	0	0	0.0019	0.0002	0.0012	0.0162	0.0007	0.0007	0.0004	0.0010	0.0176	0.0006	0.0005	0.0146	0.0135	2.405e-05	0	0	0.0017	0.0002	0	0.0034	0.0001	0.0005	0.0176	0.0	0.91255	D	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.009551	0.01245	N	2.963580	1	0.08975	N	1.1	0.28011	L	2.27	0.17431	T	0.43	0.03297	N	0.085	0.06190	-0.9910	0.32347	T	0.023	0.09604	T	10	0.0028789937	0.00046	T	.	.	.	0.054	0.15330	.	.	0.236890367714	0.23314	0.02832776152688603	0.02782	0.0191806811106	0.01871	0.323685586452	0.13979	T	6.69E-4	0.00291	T	-0.561185	0.00250	T	-0.565906	0.15826	T	0.0353943228985161	0.02875	T	0.112489	0.00851	T	0.1431432	0.32911	0.113746524	0.27454	0.1431432	0.32910	0.113746524	0.27454	-4.315	0.28387	T	.	.	0.072	0.04277	B	.	.	0.164659	0.05545	2.006	0.64902230717678866	0.07622	0.07353	0.13374	N	AEFI	0.049833	0.08648	N	-1.00522374241208	0.08495	0.3985125	-1.00942195171716	0.09577	0.4772778	0.101633738089486	0.16386	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.07	-0.147	0.12771	0.277000	0.18496	1.455000	0.26636	0.750000	0.87069	0.020000	0.19661	0.084000	0.22431	0.051000	0.15275	0.4118:0.3341:0.0928:0.1613	1.840	0.02957	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	1126.33	33	chr14	52432318	.	A	C	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=0.589;SOR=0.682	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1140,0,814	18	0	1	0
chr14	52613719	52613719	G	A	splicing	GPR137C	NM_001353361:exon4:c.765+1G>A	.	.	.	433	1083	6	0	0	6	0.00276243	0	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0061	.	.	0	.	0.0333	0	0	0.0001294	20	154602	rs557086463	0.0003	0.0002	0.0005	0.0002	0.0010	0.0003	0.0002	0.0002	8.557e-05	0	0	0.0055	0	0	0.0010	0.0002	0.0006	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0001	0.0072	0	0	0.0034	0.0003	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.33	24	chr14	52613719	.	G	A	52.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=-0.135;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,3:8:66:66,0,115	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	0/1:36,12:48:99:.:.:104,0,818:.	16	0	3	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	0/1:33,13:46:49:49,0,582	3	0	16	0
chr14	60125773	60125773	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon9:c.A2515G:p.I839V,PCNX4:NM_001330177:exon10:c.A3217G:p.I1073V	.	440	1067	15	0	0	15	0.00697999	.	.	.	2810450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00536513960952	0.0031	0.00199681	0.0037	0.0003	0.0023	0.0001	0.0006	0.0051	0.0012	0.0042	0.0036481	564	154602	rs145320435	0.0043	0.0043	0.0044	0.0043	0.0048	0.0042	0.0042	0.0047	0.0046	0.0006	0.0028	0.0084	5.064e-05	0.0008	0.0031	0.0048	0.0038	0.0042	0.0034	0.0034	0.0035	0.0033	0.0059	0.0032	0.0031	0.0049	0.0045	0.0008	0.0066	0.0059	0.0060	0.0002	0.0008	0.0068	0.0048	0.0052	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.06944	B	0.006555	0.31955	N	0.323849	0.904636	0.31372	N	-0.865	0.01458	N	1.2	0.37405	T	0.19	0.04947	N	0.062	0.03392	-0.9402	0.42584	T	0.028	0.12058	T	10	0.0047587156	0.00101	T	0.005365	0.13740	T	0.034	0.08419	.	.	0.0551355673512	0.04727	0.21568530189674243	0.21484	0.0121069975682	0.01151	0.247376948595	0.03496	T	0.006	0.06325	T	-0.588198	0.00172	T	-0.615348	0.11554	T	0.000968958407932315	0.00009	T	0.708829	0.33490	T	0.013086097	0.00049	0.027401539	0.00891	0.013086097	0.00049	0.027401539	0.00891	-1.688	0.02198	T	.	.	0.057	0.01786	B	.;.;.	.;.;.	0.228112	0.06097	2.541	0.45324561751544662	0.03549	0.29507	0.23840	N	AEBI	0.086867	0.17613	N	-1.06073496432736	0.07378	0.3425786	-0.86521962427999	0.12922	0.6675214	0.86253732062461	0.25254	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	-1.63	0.07900	1.496000	0.35246	-0.285000	0.10238	-0.648000	0.04400	0.998000	0.41325	0.011000	0.20116	0.939000	0.47918	0.2688:0.0:0.7312:0.0	13.361	0.60095	604	0.67577	Pecanex, C-terminal;Pecanex, C-terminal;Pecanex, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	714.33	36	chr14	60125773	.	A	G	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.01;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.23;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,28:52:99:728,0,598	18	0	1	0
chr14	64097961	64097961	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon62:c.C12121T:p.R4041C,SYNE2:NM_182914:exon62:c.C12121T:p.R4041C	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	464276	not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|SYNE2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.055	0.0478583551233	0.0003	0.00139776	0.0002	0.0005	0	0.0015	0	4.496e-05	0	0	0.0002458	38	154602	rs146197259	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	0.0001	0.0008	0.0007	0.0003	6.708e-05	0	0.0010	0	0	0.0001	0.0008	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0.0005	0	0.0001	0	0.0033	0	0	5.88e-05	0.0005	0	0.04	0.51853	D	0.038	0.51737	D	0.688	0.47240	P	0.191	0.41118	B	0.043776	0.01924	N	2.023780	1	0.08975	N	0.69	0.16971	N	0.62	0.59449	T	-3.3	0.66206	D	0.18	0.21839	-0.9500	0.40972	T	0.125	0.42924	T	10	0.00389117	0.00074	T	0.047858	0.63111	D	0.055	0.15663	.	.	0.504727117792	0.50111	0.2137849679959782	0.21294	0.156141096225	0.17626	0.212886750698	0.00940	T	0.060351	0.61125	T	-0.464605	0.00919	T	-0.446625	0.28069	T	0.0318192232724402	0.02277	T	0.164384	0.01504	T	0.07918892	0.18076	0.08381273	0.19236	0.05926372	0.12023	0.07131894	0.15257	-5.541	0.42755	T	.	.	0.106	0.19720	B	.;.;.;.;.	.;.;.;.;.	0.917923	0.12926	9.435	0.96553031401699685	0.30233	0.02149	0.06322	N	AEFGBI	0.057576	0.10738	N	-0.878777047709733	0.11348	0.5471816	-0.961149726192465	0.10666	0.5386069	0.260945560600597	0.18788	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.78	-1.65	0.07849	0.066000	0.14358	0.514000	0.19106	-0.870000	0.02561	0.000000	0.06391	0.001000	0.17328	0.565000	0.30531	0.4204:0.2633:0.3163:0.0	5.886	0.18127	614	0.66605	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	776.33	34	chr14	64097961	.	C	T	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.836;DP=714;ExcessHet=0;FS=1.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.121;SOR=0.882	GT:AD:DP:GQ:PL	0/1:54,39:93:99:790,0,1181	18	0	1	0
chr14	73523082	73523082	C	G	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.G71C:p.G24A,HEATR4:NM_001220484:exon3:c.G71C:p.G24A	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00391561415509	.	.	8.713e-06	0	0	0	0	0	0	6.121e-05	6.5e-06	1	154602	rs569097038	5.477e-06	5.472e-06	5.45e-06	5.505e-06	0.0002	2.36e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.91255	T	0.481	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.905	0.50856	L	2.43	0.15261	T	-1.04	0.74051	N	0.114	0.10198	-1.0517	0.13926	T	0.035	0.14900	T	6	0.10360113	0.19055	T	0.003916	0.09211	T	0.050	0.13987	0.492	0.57890	0.104622674875	0.10061	0.1233926964988219	0.12265	0.127972661917	0.14428	0.261129111052	0.05026	T	0.004018	0.03433	T	-0.336603	0.05626	T	-0.620654	0.11135	T	0.0470685239065122	0.04978	T	0.618838	0.25884	T	0.047517207	0.08134	0.06737587	0.13930	0.047517207	0.08134	0.06737587	0.13930	-3.459	0.15863	T	.	.	0.131	0.38117	B	.;.;.;.;.	.;.;.;.;.	0.404403	0.07755	4.439	0.73845343284727227	0.10476	0.21438	0.21402	N	AEFDI	0.065027	0.12660	N	-0.320699243092785	0.28362	1.563771	-0.333926726554193	0.27011	1.495884	0.849234308283226	0.25012	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.6	3.77	0.42499	0.891000	0.27944	0.380000	0.17770	-0.223000	0.07921	0.032000	0.20554	0.005000	0.19230	0.028000	0.12845	0.0:0.7473:0.165:0.0877	7.688	0.27716	271	0.89373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1812.83	86	chr14	73523082	.	C	G	1812.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=876;ExcessHet=0.119;FS=3.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.573;SOR=0.444	GT:AD:DP:GQ:PL	0/1:32,36:68:99:866,0,868	17	0	2	0
chr14	73739071	73739071	G	C	exonic	MIDEAS	.	nonsynonymous SNV	MIDEAS:NM_001043318:exon2:c.C938G:p.P313R,MIDEAS:NM_001367710:exon2:c.C938G:p.P313R,MIDEAS:NM_194278:exon2:c.C938G:p.P313R	.	.	.	.	.	.	.	.	.	.	.	2673177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00462931751904	.	.	1.896e-05	0	0	0	0	1.632e-05	0	0.0001	1.29e-05	2	154602	rs765568789	3.442e-05	3.489e-05	3.329e-05	3.557e-05	0.0003	2.635e-05	2.374e-05	0.0001	0.0001	0.0003	2.37e-05	0	2.543e-05	0	0	2.569e-05	1.701e-05	0.0001	7.231e-05	7.224e-05	8.996e-05	5.383e-05	0.0002	3.973e-05	3.129e-05	4.767e-05	3.34e-05	7.244e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.165	0.23271	T	0.052	0.47581	T	0.055	0.22733	B	0.01	0.14941	B	0.132130	0.18598	N	0.501287	1	0.08975	N	1.1	0.28011	L	2.59	0.13434	T	0.22	0.04694	N	0.246	0.29889	-0.9599	0.39199	T	0.019	0.07986	T	10	0.07373011	0.11179	T	0.004629	0.11472	T	0.019	0.03383	.	.	0.102598925029	0.09809	0.33913744795134243	0.33826	0.447518469546	0.44606	0.496607005596	0.38354	T	0.020506	0.22210	T	-0.354795	0.04434	T	-0.564024	0.16000	T	0.0173081674576201	0.00471	T	0.740526	0.35940	T	0.03461036	0.03916	0.0444516	0.05764	0.03461036	0.03915	0.0444516	0.05763	-4.535	0.31344	T	.	.	0.139	0.37178	B	.;.;.;.	.;.;.;.	2.306676	0.29522	18.15	0.91123050736643296	0.20376	0.73556	0.35979	D	AEFDBCI	0.127036	0.24424	N	-0.489516870720729	0.22424	1.197248	-0.339242847369935	0.26843	1.48541	0.99974492560457	0.42466	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.84	0.32241	0.841000	0.27267	2.641000	0.33754	0.590000	0.31872	0.960000	0.33603	1.000000	0.68203	0.920000	0.45560	0.0817:0.0:0.3909:0.5274	7.593	0.27200	354	0.85282	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	763.33	38	chr14	73739071	.	G	C	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.126;DP=801;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-2.096;SOR=0.412	GT:AD:DP:GQ:PL	0/1:22,32:54:99:777,0,603	18	0	1	0
chr14	73961263	73961263	G	A	exonic	COQ6	.	nonsynonymous SNV	COQ6:NM_182476:exon9:c.G982A:p.A328T,COQ6:NM_182480:exon9:c.G907A:p.A303T	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	211683	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	0.0159652514301	.	0.000199681	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs564107029	0.0001	0.0001	6.942e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	2.987e-05	0	0	0	0	0.0003	2.698e-06	8.279e-05	0.0022	6.567e-05	6.561e-05	3.855e-05	9.401e-05	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0017	0.527	0.13262	T	0.596	0.08390	T	0.03	0.47557	B	0.102	0.45259	B	0.000099	0.51296	D	0.205916	0.965309	0.81001	D	1.1	0.28011	L	0.9	0.55945	T	-0.45	0.23156	N	0.118	0.10769	-1.0039	0.28785	T	0.143	0.46495	T	10	0.015718043	0.00330	T	0.015965	0.36990	T	0.056	0.15993	0.508	0.60386	0.574533306093	0.57122	0.4916409407676685	0.49085	0.717079257178	0.62030	0.333456277847	0.15455	T	0.072606	0.40940	T	-0.365236	0.03843	T	-0.30327	0.44378	T	0.0974821506386098	0.12078	T	0.875712	0.61484	D	0.08172785	0.18793	0.09306714	0.21963	0.0805524	0.18464	0.10137892	0.24267	-4.329	0.37865	T	.	.	0.071	0.07841	B	.;.;.;.	.;.;.;.	3.417220	0.47432	22.5	0.99252660754251565	0.56924	0.95684	0.65718	D	AEFGBI	0.522804	0.54666	D	0.0710670105650485	0.45117	2.773631	0.224800470244578	0.51227	3.307092	0.999603626330051	0.40866	0.732398	0.92422	0	0.577304	0.33150	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	3.383000	0.52206	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1439:0.8561:0.0	14.777	0.69359	401	0.82673	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3817.83	33	chr14	73961263	.	G	A	3817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.025;DP=854;ExcessHet=0.119;FS=2.734;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.89;SOR=0.55	GT:AD:DP:GQ:PL	0/1:55,74:129:99:1998,0,1449	17	0	2	0
chr14	77377701	77377701	G	T	exonic	SAMD15	.	nonsynonymous SNV	SAMD15:NM_001010860:exon1:c.G283T:p.V95L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00102823808556	.	.	8.258e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs769124850	2.736e-06	2.736e-06	0	5.5e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.773	0.04431	T	0.0	0.02946	B	0.0	0.01387	B	0.845987	0.07028	N	1.133610	1	0.08975	N	-0.895	0.01383	N	2.64	0.12780	T	0.57	0.02638	N	0.03	0.00717	-0.9647	0.38270	T	0.010	0.03719	T	10	0.023602426	0.00622	T	0.001028	0.01144	T	0.004	0.00165	0.115	0.02372	0.0297737177859	0.01360	0.01905071136619596	0.01859	0.0722180226617	0.08101	0.220578178763	0.01344	T	0.002185	0.01585	T	-0.5062	0.00528	T	-0.868043	0.00761	T	0.0696382324983321	0.08601	T	0.454055	0.12934	T	0.04310899	0.06659	0.04342762	0.05401	0.04310899	0.06659	0.04342762	0.05400	-2.446	0.05423	T	.	.	0.122	0.25462	B	.	.	-1.091740	0.00650	0.018	0.76576673664746109	0.11524	0.00718	0.03028	N	AEFDGBCI	0.027853	0.02349	N	-1.78072187354117	0.00594	0.02559729	-1.80752141793615	0.00735	0.03277417	0.999999907035719	0.74766	0.455138	0.09556	0	0.541556	0.11502	0	0.606884	0.38211	0	0.404113	0.06833	1	.	.	4.39	-5.68	0.02240	-1.863000	0.01744	-2.554000	0.03615	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3324:0.147:0.1169:0.4038	0.985	0.01354	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1880.33	120	chr14	77377701	.	G	T	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=1537;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-1.031;SOR=0.551	GT:AD:DP:GQ:PL	0/1:50,72:122:99:1894,0,1244	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	0/1:113,44:165:45:45,0,1899	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	0/1:14,9:23:70:70,0,204	11	0	5	3
chr14	92493513	92493513	G	A	exonic	SLC24A4	.	nonsynonymous SNV	SLC24A4:NM_153646:exon17:c.G1754A:p.R585Q,SLC24A4:NM_153648:exon17:c.G1562A:p.R521Q,SLC24A4:NM_001378620:exon18:c.G1754A:p.R585Q,SLC24A4:NM_153647:exon18:c.G1697A:p.R566Q	Amelogenesis imperfecta, type IIA5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	725866	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.212	.	0.0035	0.00459265	0.0013	0.0139	0.0004	0	0	4.502e-05	0	0	0.001216	188	154602	rs77441273	0.0004	0.0004	0.0005	0.0003	0.0135	0.0004	0.0003	0.0125	0.0121	0.0135	0.0007	0	0	0	0.0002	2.248e-05	0.0009	1.159e-05	0.0037	0.0037	0.0039	0.0035	0.0128	0.0035	0.0034	0.0119	0.0115	0.0128	0	0.0016	0	0	0	0.0034	0.0001	0.0005	0	0.018	0.50676	D	0.028	0.54934	D	0.968	0.56581	D	0.497	0.47562	P	0.027735	0.25711	N	0.427337	0.808148	0.29512	N	3.325	0.90780	M	-0.17	0.65563	T	-1.77	0.41809	N	0.095	0.09349	-0.6321	0.63481	T	0.186	0.53511	T	10	0.008594722	0.00195	T	.	.	.	0.212	0.50341	.	.	0.82348033158	0.82181	0.6773261680254041	0.67671	0.365847165232	0.38172	0.25608420372	0.04436	T	0.360897	0.72707	T	-0.401201	0.02274	T	-0.337398	0.40639	T	0.0911008971563925	0.11348	T	0.835416	0.50550	T	0.14870545	0.33937	0.12074622	0.29137	0.14518225	0.33292	0.12844372	0.30900	-7.976	0.60906	D	.	.	0.098	0.17360	B	.;.;.	.;.;.	3.586681	0.50588	23.0	0.99934085394756611	0.99535	0.82926	0.42091	D	AEFBI	0.401544	0.47599	N	0.425096801419687	0.62807	4.502722	0.444387522805171	0.64356	4.689022	0.999977564557144	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.57	4.57	0.55860	1.561000	0.35950	5.047000	0.46963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.2345:0.0:0.7655:0.0	9.046	0.35507	474	0.77851	.;.;Sodium/calcium exchanger membrane region	.	.	.	.	.	Likely benign	0	0	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	3386.33	35	chr14	92493513	.	G	A	3386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=918;ExcessHet=0;FS=2.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:137,130:267:99:3400,0,3373	18	0	1	0
chr14	93214953	93214953	G	A	exonic	UBR7	.	nonsynonymous SNV	UBR7:NM_175748:exon5:c.G466A:p.V156I	.	0	1521	1	0	0	1	0.000328623	.	.	.	2807191	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00771577191369	.	.	0.0001	0	0.0004	0.0001	0	7.837e-05	0	0.0004	0.0001164	18	154602	rs201726432	0.0002	0.0002	0.0002	0.0002	0.0097	0.0002	0.0002	0.0077	0.0069	0.0002	0.0005	7.663e-05	0.0001	0	0.0097	0.0001	0.0004	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	9.235e-05	0.0003	0.0002	4.813e-05	0	0.0001	0.0009	0.0004	0	0	0.0001	0.0014	0.0008	0.79	0.07695	T	0.481	0.12562	T	0.003	0.11197	B	0.005	0.11217	B	0.000131	0.49741	N	0.180500	0.923935	0.36761	D	0.4	0.12274	N	-1.18	0.78314	T	-0.2	0.11185	N	0.161	0.16864	-0.9392	0.42743	T	0.179	0.52458	T	10	0.03948456	0.02442	T	0.007716	0.20483	T	0.179	0.44899	.	.	0.360961692134	0.35713	0.26756047198623184	0.26669	0.367186754456	0.38278	0.436189830303	0.30057	T	0.007204	0.09680	T	-0.328829	0.06201	T	-0.356083	0.38506	T	0.0274046879260027	0.01602	T	.	.	.	0.03182677	0.03093	0.034382872	0.02495	0.03182677	0.03093	0.034382872	0.02494	-5.351	0.40445	T	.	.	0.072	0.11654	B	.;.;.	.;.;.	1.672906	0.21327	15.15	0.77135355883858547	0.11751	0.75353	0.36890	D	AEFBI	0.136851	0.25765	N	-0.596281559611613	0.19056	0.994416	-0.41616830083787	0.24522	1.343305	0.987836335683317	0.31353	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	1.01	0.19044	0.984000	0.29163	1.157000	0.24525	0.676000	0.76740	0.859000	0.30595	0.970000	0.29701	0.992000	0.67800	0.5582:0.0:0.4418:0.0	8.037	0.29657	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	1	0	0.004028	0.005051	0.006793	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	1001.33	33	chr14	93214953	.	G	A	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.349;DP=734;ExcessHet=0;FS=1.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.016;SOR=0.502	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1015,0,1339	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	0/1:76,41:117:99:560,0,1373	1	0	17	1
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	295.95	35	chr14	96328709	.	G	C	295.95	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-1.009;DP=859;ExcessHet=0.7564;FS=144.371;InbreedingCoeff=-0.2105;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.291;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,6:25:12:.:.:12,0,270:.	10	0	4	5
chr14	100328814	100328814	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_207117:exon5:c.C416T:p.S139L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.114253467296	0.0002	0.000399361	0.0005	0.0003	0.0009	0	0	0.0007	0.0012	6.098e-05	0.0005433	84	154602	rs201454370	0.0010	0.0010	0.0010	0.0010	0.0013	0.0010	0.0009	0.0012	0.0011	0.0003	0.0013	0	2.519e-05	1.915e-05	0	0.0012	0.0008	2.319e-05	0.0009	0.0009	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0003	0	0.0024	0	0	9.407e-05	0	0.0011	0.0028	0	0.003	0.68238	D	0.182	0.29249	T	0.985	0.61118	D	0.507	0.47859	P	0.034611	0.01789	N	2.806850	1	0.81001	D	1.245	0.31408	L	-1.56	0.81815	D	-1.34	0.33401	N	0.37	0.41162	-0.4471	0.70496	T	0.504	0.81315	D	10	0.046824276	0.03922	T	0.114253	0.79304	D	0.330	0.65226	.	.	0.624672830597	0.62162	0.3240495720885148	0.32317	0.364669309741	0.38084	0.405321002007	0.25808	T	0.045403	0.27111	T	-0.217903	0.18280	T	-0.110407	0.62579	T	0.0700572557731226	0.08658	T	0.635836	0.24975	T	0.3205447	0.54686	0.4382608	0.67218	0.3205447	0.54686	0.4382608	0.67218	-4.096	0.25231	T	.	.	0.093	0.14247	B	.	.	2.242124	0.28630	17.86	0.99659317596354735	0.77820	0.75200	0.36809	D	AEFDBHCI	0.796345	0.72350	D	-0.0547802598610868	0.39390	2.322061	-0.0959566315296403	0.35557	2.058554	0.999999999999999	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.89	4.89	0.63387	2.261000	0.42932	1.261000	0.25231	0.599000	0.40250	0.012000	0.18695	0.267000	0.24023	0.156000	0.20513	0.0:1.0:0.0:0.0	18.034	0.89216	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1224.33	98	chr14	100328814	.	C	T	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.456;DP=1071;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.07;ReadPosRankSum=-1.144;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,33:61:99:0|1:100328802_G_T:1238,0,1060:100328802	18	0	1	0
chr14	104175195	104175195	C	T	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.C2407T:p.R803W	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.589681652719	8e-05	0.00139776	0.0009	0	0	0.0003	0	0.0001	0	0.0057	0.0006727	104	154602	rs201126105	0.0004	0.0004	0.0002	0.0005	0.0046	0.0004	0.0004	0.0043	0.0041	0	6.755e-05	0	0.0003	0	0.0012	0.0001	0.0004	0.0046	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	9.626e-05	0	6.533e-05	0	0.0014	0	0	0.0002	0.0005	0.0035	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.949	0.68658	D	.	.	.	.	0.996824	0.43441	D	2.75	0.80375	M	-1.5	0.81318	D	-6.85	0.93097	D	0.502	0.53445	0.214	0.86141	D	0.584	0.85065	D	9	0.013980001	0.00295	T	0.589682	0.96351	D	0.517	0.79400	.	.	0.808420548568	0.80662	0.6010305884145444	0.60034	0.449415693585	0.44730	0.86792999506	0.92272	D	0.228032	0.59348	T	-0.22857	0.16839	T	-0.100285	0.63377	T	0.273814531601691	0.23910	T	0.940606	0.77652	D	0.5614481	0.70590	0.45705718	0.68446	0.5614481	0.70591	0.45705718	0.68446	-8.148	0.62074	D	.	.	0.166	0.36574	B	.;.	.;.	4.755970	0.76843	26.6	0.99904198634107344	0.97502	0.60494	0.31211	D	AEFBCI	0.729211	0.67699	D	0.415307063564042	0.62263	4.439383	0.323401601434864	0.56917	3.855979	0.973848665881022	0.29491	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.89	3.89	0.44098	2.346000	0.43683	1.062000	0.23729	0.596000	0.33519	1.000000	0.71638	0.914000	0.28189	0.503000	0.29084	0.3192:0.6808:0.0:0.0	10.996	0.46790	557	0.71576	.;.	.	.	.	.	.	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	0.002523	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2734.33	35	chr14	104175195	.	C	T	2734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=940;ExcessHet=0;FS=3.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.494;SOR=0.487	GT:AD:DP:GQ:PL	0/1:93,102:195:99:2748,0,2092	18	0	1	0
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D,AHNAK2:NM_138420:exon7:c.G2475T:p.E825D	.	425	1066	31	0	0	31	0.0143319	.	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	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	0.016578	0.031250	0.019022	0.020661	0.000000	0.017241	0.009494	0.007692	0.05263	406.83	91	chr14	104952976	.	C	A	406.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.899;DP=3111;ExcessHet=0.119;FS=1.703;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.22;MQRankSum=-19.53;QD=0.31;ReadPosRankSum=2.55;SOR=0.731	GT:AD:DP:GQ:PL	0/1:583,86:669:99:181,0,15944	17	0	2	0
chr14	105143063	105143063	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon25:c.C3235T:p.R1079W,JAG2:NM_002226:exon26:c.C3349T:p.R1117W	.	411	1065	44	2	0	48	0.0220386	.	.	.	702786	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.400	0.550986740197	0.0060	0.00279553	0.0067	0.0011	0.0034	0	0.0039	0.0094	0.0064	0.0063	0.0062742	970	154602	rs34728766	0.0080	0.0079	0.0080	0.0080	0.0094	0.0079	0.0078	0.0086	0.0085	0.0015	0.0042	0.0114	5.04e-05	0.0054	0.0094	0.0087	0.0071	0.0069	0.0059	0.0059	0.0060	0.0057	0.0089	0.0056	0.0054	0.0083	0.0081	0.0013	0.0264	0.0058	0.0115	0	0.0038	0.0205	0.0089	0.0043	0.0058	0.028	0.56456	D	0.021	0.58089	D	0.999	0.77913	D	0.846	0.63913	P	0.271362	0.15121	N	0.648787	0.812943	0.34667	D	2.555	0.74557	M	-2.19	0.86815	D	-4.24	0.76576	D	0.313	0.35938	0.365	0.88568	D	0.590	0.85329	D	10	0.0067113936	0.00152	T	0.550987	0.95860	D	0.400	0.71401	.	.	0.745179119767	0.74288	0.5502876314655247	0.54954	0.714357934396	0.61881	0.666381239891	0.62321	T	0.839	0.96231	D	-0.241819	0.15119	T	-0.110737	0.62553	T	0.0422880266963858	0.04108	T	0.952805	0.83579	D	0.14168425	0.32638	0.1480713	0.35016	0.14168425	0.32637	0.1480713	0.35015	-14.034	0.93583	D	.	.	0.096	0.29724	B	.;.	.;.	5.370889	0.90040	31	0.99901152410059391	0.97275	0.89593	0.50157	D	AEFBI	0.387197	0.46727	N	0.451848610930217	0.64307	4.682385	0.404861936367212	0.61868	4.392977	0.612575134971493	0.21817	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	2.345000	0.43675	7.301000	0.58090	0.618000	0.50648	0.586000	0.27634	1.000000	0.68203	0.986000	0.61781	0.1003:0.0:0.8997:0.0	9.287	0.36925	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.008174	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	1728.33	33	chr14	105143063	.	G	A	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=875;ExcessHet=0;FS=2.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.451;SOR=0.916	GT:AD:DP:GQ:PL	0/1:80,65:145:99:1742,0,1983	18	0	1	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|1:31,21:52:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:685,0,1213:20534604	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,21:38:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:717,0,939:20534604	11	0	8	0
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|1:12,21:38:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:717,0,939:20534604	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|1:12,21:38:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:717,0,939:20534604	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|1:12,21:38:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:717,0,939:20534604	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|1:12,21:38:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:717,0,939:20534604	4	0	15	0
chr15	20534804	20534805	CC	-	exonic	GOLGA6L6	.	stopgain	GOLGA6L6:NM_001145004:exon8:c.1629_1630del:p.D544*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.514e-05	2.319e-05	3.123e-05	1.916e-05	3.286e-05	1.749e-05	1.486e-05	2.255e-05	1.905e-05	0	0	0	0	0	0	3.286e-05	2.214e-05	0	1.672e-05	1.379e-05	0	3.419e-05	0.0002	2.78e-06	1.04e-06	3.025e-05	1.255e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	349.32	17	chr15	20534803	.	TCC	T	349.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.332;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.029;MLEAC=1;MLEAF=0.026;MQ=44.34;MQRankSum=0.963;QD=24.95;ReadPosRankSum=0.453;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,9:14:99:0|1:20534803_TCC_T:363,0,183:20534803	18	0	1	0
chr15	20534807	20534825	CCTGCTCCTGCCTCTTCTC	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1609_1627del:p.E537Rfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.016e-05	2.309e-05	2.518e-05	1.523e-05	2.606e-05	1.296e-05	1.099e-05	1.701e-05	1.383e-05	0	0	0	0	0	0	2.606e-05	2.206e-05	0	1.668e-05	1.374e-05	0	3.418e-05	0.0002	2.77e-06	1.04e-06	3.016e-05	1.251e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	340.33	16	chr15	20534806	.	TCCTGCTCCTGCCTCTTCTC	T	340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.968;DP=380;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0293;MLEAC=1;MLEAF=0.026;MQ=48.26;MQRankSum=-0.385;QD=20.02;ReadPosRankSum=0.453;SOR=1.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,9:17:99:0|1:20534803_TCC_T:354,0,309:20534803	18	0	1	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	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	.	.	.	.	.	.	.	.	0.07895	2874.79	34	chr15	21652117	.	A	C	2874.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.46;DP=1143;ExcessHet=0.3672;FS=3.858;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=28.15;MQRankSum=-0.218;QD=5.23;ReadPosRankSum=-0.519;SOR=0.999	GT:AD:DP:GQ:PL	0/1:239,73:312:99:1187,0,6099	16	0	3	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	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	.	.	.	.	.	.	.	.	0.07895	5203.79	34	chr15	21652190	.	C	T	5203.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.35;DP=1924;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=32.55;MQRankSum=-0.045;QD=5.5;ReadPosRankSum=0.943;SOR=0.725	GT:AD:DP:GQ:PL	0/1:370,123:493:99:2201,0,9580	16	0	3	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	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	.	.	.	.	.	.	.	.	0.07895	8970.79	34	chr15	21652283	.	G	C	8970.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.37;DP=1793;ExcessHet=0.3672;FS=2.68;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.05;MQRankSum=-1.145;QD=10.89;ReadPosRankSum=0.157;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,124:405:99:0|1:21652283_G_C:4261,0,11006:21652283	16	0	3	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	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	.	.	.	.	.	.	.	.	0.07895	8994.79	34	chr15	21652290	.	C	A	8994.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.745;DP=1778;ExcessHet=0.3672;FS=1.934;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.12;MQRankSum=-1.247;QD=11.08;ReadPosRankSum=0.423;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,123:394:99:0|1:21652283_G_C:4275,0,10768:21652283	16	0	3	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	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	0/1:159,120:279:99:3044,0,4176	0	13	3	3
chr15	22608280	22608280	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon16:c.A1420G:p.K474E	.	181	1314	25	2	0	29	0.0109146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.000518772353122	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201889124	0.0064	0.0066	0.0055	0.0072	0.0317	0.0062	0.0062	0.0307	0.0303	0.0153	0.0059	0.0146	0.0011	0.0005	0.0110	0.0042	0.0084	0.0317	0.0085	0.0095	0.0083	0.0087	0.0383	0.0081	0.0080	0.0337	0.0319	0.0150	0	0.0050	0.0189	0.0016	0.0006	0.0174	0.0048	0.0085	0.0383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2923.79	41	chr15	22608280	.	T	C	2923.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.96;DP=878;ExcessHet=0.3672;FS=1.06;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=30.58;MQRankSum=-0.098;QD=13.35;ReadPosRankSum=-0.591;SOR=0.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,29:76:99:0|1:22608274_T_C:1043,0,1817:22608274	16	0	3	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1:2:36:1|0:22768213_CTTCCTCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGA_C:79,0,36:22768213	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1:2:36:1|0:22768213_CTTCCTCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGA_C:79,0,36:22768213	8	4	2	5
chr15	23440323	23440323	T	-	exonic	GOLGA6L2	.	frameshift deletion	GOLGA6L2:NM_001304388:exon8:c.2152delA:p.R718Gfs*260	.	440	1023	46	0	13	59	0.0219885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0025	0.0005	0.0005	0.0015	0.0005	0.0005	0.0012	0.0011	0.0004	0.0009	0.0011	0.0006	0.0007	0	0.0004	0.0005	0.0015	4.003e-05	0.0015	7.862e-05	0	8.722e-05	1.571e-05	9.5e-06	3.377e-05	2.148e-05	0	0	0	0	0	0	0	8.722e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	334.47	58	chr15	23440322	.	CT	C	334.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.578;DP=1108;ExcessHet=1.3;FS=9.671;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=56.75;MQRankSum=-1.664;QD=2.06;ReadPosRankSum=-0.225;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,3:27:49:0|1:23440319_CT_C:49,0,866:23440319	18	0	1	0
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	1/0:0,66:137:99:.:.:5035,2443,2932:.	0	0	19	0
chr15	23645669	23645669	C	T	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.G2074A:p.V692I	Schaaf-Yang syndrome, Autosomal dominant	1	1471	46	4	0	54	0.018024	.	.	.	190564	not_provided|Prader-Willi_syndrome|Schaaf-Yang_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739|MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0012	0.00419329	0.0054	0.0006	0.0014	0.0002	0	0.0032	0.0117	0.0324	0.0033829	523	154602	rs200926181	0.0033	0.0034	0.0028	0.0038	0.0201	0.0032	0.0032	0.0193	0.0189	0.0005	0.0011	0.0037	0.0001	1.981e-05	0.0094	0.0025	0.0039	0.0201	0.0020	0.0020	0.0018	0.0023	0.0193	0.0019	0.0018	0.0161	0.0149	0.0004	0	0.0007	0.0055	0	0	0.0034	0.0025	0.0019	0.0193	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.003316313	0.00057	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.11124448204977332	0.11053	0.05440095498	0.06016	0.510307192802	0.40265	T	0.04594	0.27275	T	-0.717938	0.00028	T	-0.787788	0.02226	T	.	.	.	0.440756	0.12177	T	0.014713494	0.00105	0.041571822	0.04755	0.016205389	0.00182	0.028322473	0.01058	-4.396	0.29503	T	.	.	0.09	0.12607	B	.;.	.;.	0.107297	0.05076	1.614	0.96116436994406906	0.28760	0.08880	0.14741	N	AEFDBHCI	0.045935	0.07571	N	.	.	.	.	.	.	0.825701949765922	0.24603	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	3.54	1.35	0.21078	0.387000	0.20445	-0.640000	0.08082	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3088:0.4742:0.0:0.2171	2.066	0.03384	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	1	0	0	0	0	1	0	0.005572	0.000000	0.006849	0.000000	0.000000	0.000000	0.006135	0.007634	0.05263	3957.83	43	chr15	23645669	.	C	T	3957.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.15;DP=976;ExcessHet=0.119;FS=7.262;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.767;SOR=0.585	GT:AD:DP:GQ:PL	0/1:65,75:140:99:2007,0,1678	17	0	2	0
chr15	23646358	23646378	GGGGCCTGGCGGATCACGGGT	-	exonic	MAGEL2	.	nonframeshift deletion	MAGEL2:NM_019066:exon1:c.1365_1385del:p.P456_P462del	Schaaf-Yang syndrome, Autosomal dominant	1	219	6	0	0	6	0.0135135	.	.	.	190568	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0041	3.84e-05	1	26028	rs1369621653	0.0014	0.0013	0.0010	0.0018	0.0132	0.0013	0.0013	0.0124	0.0121	0.0003	0.0012	0.0031	0.0005	0.0002	0.0044	0.0008	0.0022	0.0132	0.0021	0.0021	0.0018	0.0023	0.0201	0.0019	0.0018	0.0167	0.0155	0.0004	0	0.0007	0.0051	0.0013	0	0.0039	0.0024	0.0020	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2648.79	70	chr15	23646357	.	GGGGGCCTGGCGGATCACGGGT	G	2648.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.48;DP=1007;ExcessHet=0.119;FS=3.311;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.249;SOR=0.714	GT:AD:DP:GQ:PL	0/1:47,37:84:99:1219,0,1717	17	0	2	0
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	378.55	10	chr15	28843134	.	C	T	378.55	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,5:18:99:0|1:28843134_C_T:171,0,531:28843134	14	0	4	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	378.71	10	chr15	28843135	.	C	A	378.71	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,5:18:99:0|1:28843134_C_T:171,0,531:28843134	14	0	4	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	387.69	11	chr15	28843142	.	C	A	387.69	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=4;MLEAF=0.111;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,5:18:99:0|1:28843134_C_T:171,0,531:28843134	14	0	4	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	355.97	11	chr15	28843145	.	A	G	355.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.521;DP=208;ExcessHet=0.3672;FS=1.374;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.083;MQ=54.36;MQRankSum=-2;QD=9.89;ReadPosRankSum=0.932;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,5:18:99:0|1:28843134_C_T:171,0,531:28843134	15	0	3	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	333.12	12	chr15	28843152	.	C	T	333.12	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.242;DP=208;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.1245;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-0.241;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5:15:99:0|1:28843134_C_T:180,0,405:28843134	15	0	3	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	333.28	12	chr15	28843155	.	C	T	333.28	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.21;DP=204;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.124;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-1.016;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5:15:99:0|1:28843134_C_T:180,0,405:28843134	15	0	3	1
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	225.85	10	chr15	28843163	.	C	A	225.85	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.826;DP=209;ExcessHet=0.119;FS=1.824;InbreedingCoeff=-0.0784;MLEAC=2;MLEAF=0.056;MQ=55.59;MQRankSum=-1.559;QD=9.82;ReadPosRankSum=0.071;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,4:14:99:0|1:28843134_C_T:138,0,408:28843134	16	0	2	1
chr15	28843173	28843173	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G931A:p.E311K	.	623	889	10	0	0	10	0.00559284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323313614	5.055e-05	0.0003	2.771e-05	7.401e-05	0.0004	3.699e-05	3.282e-05	0.0002	0.0001	0	0.0004	0	0.0002	0	0	2.832e-05	3.097e-05	0.0004	0.0003	0.0025	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07834345	0.12474	T	.	.	.	.	.	.	.	.	.	0.030977101992109582	0.03046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728627	0.34357	T	0.024559313	0.01299	0.06746355	0.13960	0.024559313	0.01299	0.06746355	0.13960	-7.453	0.57279	T	.	.	0.085	0.10256	B	.	.	0.758504	0.11281	7.908	0.45310543330938985	0.03547	0.00741	0.03094	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-2.407000	0.01121	-8.590000	0.00945	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	235.23	12	chr15	28843173	.	C	T	235.23	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2;DP=206;ExcessHet=0.119;FS=2.128;InbreedingCoeff=-0.0889;MLEAC=2;MLEAF=0.056;MQ=54.9;MQRankSum=-1.501;QD=11.76;ReadPosRankSum=-1.016;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,4:11:99:0|1:28843134_C_T:147,0,282:28843134	16	0	2	1
chr15	28843184	28843184	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G920A:p.R307Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234911443	0.0001	0.0004	8.898e-05	0.0001	0.0006	8.363e-05	7.398e-05	0.0002	0.0002	0	0.0006	9.459e-05	0.0002	0	0	9.178e-05	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0003	0	0	0.0002	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09230423	0.16243	T	.	.	.	.	.	.	.	.	.	0.015862042107251405	0.01542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772023	0.40277	T	0.025436746	0.01482	0.052157898	0.08539	0.025436746	0.01482	0.052157898	0.08539	-7.527	0.57801	D	.	.	0.092	0.13409	B	.	.	1.226396	0.16205	12.39	0.49541547242566591	0.04228	0.00812	0.03292	N	AEFCI	.	.	.	.	.	.	.	.	.	1.82142312209372E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-1.693000	0.02018	-5.115000	0.01843	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3416:0.0:0.6584	3.773	0.08172	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	154.33	15	chr15	28843184	.	C	T	154.33	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.1;DP=212;ExcessHet=0.119;FS=2.694;InbreedingCoeff=-0.0896;MLEAC=2;MLEAF=0.056;MQ=55.54;MQRankSum=0.319;QD=9.08;ReadPosRankSum=-1.016;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	16	0	2	1
chr15	29708719	29708719	A	G	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon24:c.T4450C:p.S1484P,TJP1:NM_175610:exon24:c.T4450C:p.S1484P,TJP1:NM_001301026:exon25:c.T4462C:p.S1488P,TJP1:NM_001330239:exon25:c.T4690C:p.S1564P,TJP1:NM_001355013:exon25:c.T4702C:p.S1568P,TJP1:NM_001355014:exon25:c.T4690C:p.S1564P,TJP1:NM_003257:exon25:c.T4690C:p.S1564P,TJP1:NM_001301025:exon26:c.T4969C:p.S1657P,TJP1:NM_001355012:exon26:c.T4969C:p.S1657P	.	432	1083	7	0	0	7	0.00322135	.	.	.	2330288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00618599099557	0.0003	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001423	22	154602	rs199603537	8.482e-05	8.482e-05	6.806e-05	0.0001	0.0042	7.208e-05	6.796e-05	0.0029	0.0024	0.0001	4.472e-05	0	0	0	0.0042	6.115e-05	0.0002	0.0002	7.875e-05	7.873e-05	7.706e-05	8.052e-05	0.0002	4.491e-05	3.508e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0.0034	0.0001	0.0009	0.0002	0.321	0.13925	T	0.381	0.18071	T	0.0	0.07471	B	0.001	0.10090	B	0.010953	0.29719	N	0.379321	0.999375	0.21289	N	-1.1	0.00987	N	0.9	0.45248	T	-0.28	0.14390	N	0.113	0.39254	-1.0906	0.05433	T	0.056	0.23488	T	10	0.05846733	0.06877	T	0.006186	0.16200	T	0.060	0.17295	.	.	0.0675242888579	0.06100	0.06413629325010267	0.06352	0.0892125272188	0.10079	0.377797335386	0.21944	T	0.081739	0.36666	T	-0.396209	0.02452	T	-0.514755	0.20827	T	0.0378528336186939	0.03306	T	0.741926	0.36121	T	0.084586285	0.19585	0.0595764	0.11203	0.084586285	0.19585	0.0595764	0.11202	-3.084	0.11342	T	.	.	0.061	0.03197	B	.;.;.;.;.	.;.;.;.;.	1.811294	0.23020	15.85	0.9465381491742263	0.25263	0.80867	0.40397	D	AEFDBIJ	0.287547	0.39967	N	-0.47922839633881	0.22763	1.217711	-0.347353207693491	0.26591	1.469765	0.993455683341944	0.33222	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.65	2.01	0.25568	1.950000	0.39948	0.487000	0.18863	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.996000	0.76049	0.5139:0.1753:0.3108:0.0	4.14	0.09657	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2861.33	34	chr15	29708719	.	A	G	2861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=868;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.147;SOR=0.828	GT:AD:DP:GQ:PL	0/1:109,110:219:99:2875,0,2727	18	0	1	0
chr15	29718486	29718486	C	T	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon20:c.G3416A:p.G1139D,TJP1:NM_175610:exon20:c.G3416A:p.G1139D,TJP1:NM_001301026:exon21:c.G3428A:p.G1143D,TJP1:NM_001330239:exon21:c.G3656A:p.G1219D,TJP1:NM_001355013:exon21:c.G3668A:p.G1223D,TJP1:NM_001355014:exon21:c.G3656A:p.G1219D,TJP1:NM_003257:exon21:c.G3656A:p.G1219D,TJP1:NM_001301025:exon22:c.G3935A:p.G1312D,TJP1:NM_001355012:exon22:c.G3935A:p.G1312D	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00878790523755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444188327	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.54683	D	0.089	0.41742	T	0.134	0.52202	B	0.046	0.45392	B	0.199002	0.16649	N	0.656653	0.819145	0.28904	N	1.87	0.49600	L	3.31	0.06445	T	-0.38	0.13418	N	0.403	0.60579	-1.1114	0.02952	T	0.026	0.11087	T	10	0.14398506	0.27331	T	0.008788	0.23196	T	0.047	0.12962	0.189	0.09907	0.043077524339	0.03247	0.1483457007780607	0.14756	0.101639587163	0.11499	0.407557427883	0.26119	T	0.128902	0.45684	T	-0.205255	0.20051	T	-0.532611	0.19027	T	0.115420528710378	0.13977	T	0.909409	0.73308	D	0.06892477	0.15058	0.1045765	0.25119	0.06892477	0.15058	0.1045765	0.25118	-4.167	0.31201	T	.	.	0.166	0.43476	B	.;.;.;.;.	.;.;.;.;.	3.099892	0.41772	21.4	0.9872730621909912	0.45304	0.91270	0.53196	D	AEFDBI	0.430234	0.49302	N	-0.133401597176399	0.35943	2.07109	-0.121111400227971	0.34540	1.987965	0.999998481817623	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	4.71	0.59010	1.202000	0.31878	4.001000	0.41074	0.594000	0.32500	0.896000	0.31333	0.353000	0.24482	0.567000	0.30579	0.0:0.7965:0.1329:0.0705	10.771	0.45518	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2267.33	38	chr15	29718486	.	C	T	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=879;ExcessHet=0;FS=0.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.05;SOR=0.756	GT:AD:DP:GQ:PL	0/1:89,85:174:99:2281,0,2545	18	0	1	0
chr15	41571062	41571062	C	G	exonic	TYRO3	.	nonsynonymous SNV	TYRO3:NM_001330264:exon13:c.C1469G:p.A490G,TYRO3:NM_006293:exon13:c.C1604G:p.A535G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0448288116241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	8.168e-06	8.251e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.326	0.33151	B	0.295	0.40843	B	0.001402	0.39109	N	0.000000	1	0.81001	D	-0.635	0.02130	N	-1.41	0.80560	T	3.44	0.00092	N	0.367	0.41557	-0.6797	0.61386	T	0.260	0.63033	T	10	0.20471954	0.36673	T	0.044829	0.61680	D	0.384	0.70112	0.746	0.87738	0.279809986126	0.27602	0.8044325957851877	0.80397	0.824915363401	0.67344	0.616919159889	0.55294	T	0.194234	0.58377	T	0.0262988	0.55229	T	-0.2	0.54646	T	0.608680248260498	0.36747	D	0.855114	0.55526	D	0.08522292	0.19759	0.10682974	0.25706	0.08522292	0.19759	0.10682974	0.25706	-5.785	0.44443	T	.	.	0.099	0.36811	B	.;.	.;.	3.549142	0.49887	22.9	0.27071081445850509	0.01327	0.91793	0.54275	D	AEFDGBI	0.415321	0.48423	N	-0.192554162321527	0.33443	1.897439	0.0206906638246215	0.40677	2.431427	0.999993704272845	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	2.804000	0.47628	7.623000	0.62394	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8615:0.1385:0.0	15.487	0.75310	171	0.93390	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1207.33	36	chr15	41571062	.	C	G	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.897;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.19;SOR=0.678	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1221,0,937	18	0	1	0
chr15	42442393	42442393	T	G	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001284306:exon6:c.A929C:p.H310P,ZNF106:NM_001381997:exon6:c.A842C:p.H281P,ZNF106:NM_001381996:exon7:c.A1001C:p.H334P,ZNF106:NM_022473:exon7:c.A3374C:p.H1125P,ZNF106:NM_001284307:exon8:c.A1058C:p.H353P,ZNF106:NM_001366844:exon8:c.A1058C:p.H353P,ZNF106:NM_001381995:exon8:c.A1076C:p.H359P,ZNF106:NM_001381998:exon8:c.A1058C:p.H353P,ZNF106:NM_001381993:exon9:c.A3242C:p.H1081P,ZNF106:NM_001381994:exon9:c.A1259C:p.H420P,ZNF106:NM_001366845:exon10:c.A3443C:p.H1148P,ZNF106:NM_001366846:exon10:c.A3443C:p.H1148P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0334278922156	.	.	9.971e-05	0	8.643e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs777682894	4.517e-05	4.515e-05	3.813e-05	5.229e-05	0.0021	3.643e-05	3.323e-05	0.0012	0.0009	0.0001	4.477e-05	0	0	0	0.0021	3.869e-05	8.283e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	6.548e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.548e-05	0	0	0	0	2.94e-05	0	0	0.113	0.29158	T	0.283	0.24193	T	0.167	0.28604	B	0.04	0.23831	B	0.229110	0.15960	N	0.659026	0.999862	0.19989	N	1.5	0.37844	L	0.48	0.62762	T	-1.15	0.35399	N	0.373	0.41459	-1.0241	0.22377	T	0.098	0.36754	T	10	0.046054333	0.03750	T	0.033428	0.54974	D	0.030	0.07022	0.175	0.08135	0.462549850287	0.45878	0.24509630676554672	0.24423	0.301837205482	0.32518	0.329143553972	0.14805	T	0.00778	0.19739	T	-0.283259	0.10325	T	-0.389612	0.34597	T	0.0418611094355583	0.04030	T	0.608539	0.23656	T	0.08409253	0.19448	0.08428175	0.19376	0.08409253	0.19447	0.08428175	0.19376	-1.584	0.02301	T	.	.	0.092	0.17232	B	.;.;.;.;.	.;.;.;.;.	0.509627	0.08783	5.562	0.92230414391322357	0.21606	0.09878	0.15533	N	AEFBI	0.152442	0.27712	N	-0.58340372014296	0.19449	1.017984	-0.518036871039817	0.21664	1.172985	0.98938164977551	0.31809	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.31	0.27816	-0.309000	0.08185	-2.921000	0.03228	0.665000	0.62972	0.006000	0.17386	0.000000	0.08366	0.655000	0.32830	0.1769:0.1812:0.0:0.6419	5.276	0.14961	128	0.94857	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1269.33	47	chr15	42442393	.	T	G	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.884;DP=812;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.796;SOR=0.844	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1283,0,1122	18	0	1	0
chr15	42783459	42783459	A	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon11:c.T1157C:p.M386T	Spinocerebellar ataxia 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2024045	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.00673952045293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs547332107	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.09075	T	0.339	0.18071	T	0.0	0.23653	B	0.003	0.18140	B	0.000001	0.84330	D	0.094754	0.999972	0.53665	D	0.5	0.13406	N	1.18	0.37746	T	0.8	0.02808	N	0.575	0.59732	-1.0884	0.05804	T	0.051	0.21728	T	10	0.17700845	0.32715	T	0.00674	0.17812	T	0.178	0.44724	0.323	0.30387	0.102598925029	0.09809	0.5368540699727744	0.53610	0.289332929805	0.31346	0.625563263893	0.56516	T	0.048849	0.28136	T	-0.122301	0.32750	T	-0.330588	0.41403	T	0.26768230448659	0.23648	T	0.510449	0.33490	T	0.22399172	0.45032	0.18895365	0.42214	0.22399172	0.45032	0.18895365	0.42213	-7.573	0.66505	D	.	.	0.593	0.68578	P	.;.;.;.	.;.;.;.	3.287497	0.45070	22.1	0.46997886285685841	0.03808	0.99772	0.99355	D	AEFBI	0.866327	0.78570	D	-0.0469382095368568	0.39739	2.348389	0.197139633651893	0.49688	3.169213	0.999970374983425	0.50053	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.56	5.56	0.83678	8.608000	0.90676	9.143000	0.78918	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.710	0.77376	101	0.95833	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	924.33	36	chr15	42783459	.	A	G	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.61;DP=714;ExcessHet=0;FS=3.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=2.18;SOR=0.404	GT:AD:DP:GQ:PL	0/1:43,39:82:99:938,0,1147	18	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	247.85	118	chr15	43021291	.	A	G	247.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.978;DP=1871;ExcessHet=1.3;FS=121.683;InbreedingCoeff=-0.1377;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.139;SOR=11.592	GT:AD:DP:GQ:PL	0/1:63,21:84:99:110,0,1111	14	0	5	0
chr15	43169596	43169596	C	T	exonic	TMEM62	.	nonsynonymous SNV	TMEM62:NM_001347019:exon8:c.C685T:p.R229W,TMEM62:NM_001347021:exon8:c.C685T:p.R229W,TMEM62:NM_001347023:exon8:c.C685T:p.R229W,TMEM62:NM_001347025:exon8:c.C685T:p.R229W,TMEM62:NM_001347027:exon8:c.C685T:p.R229W,TMEM62:NM_001347029:exon8:c.C685T:p.R229W,TMEM62:NM_001347030:exon8:c.C643T:p.R215W,TMEM62:NM_001347008:exon9:c.C904T:p.R302W,TMEM62:NM_001347011:exon9:c.C904T:p.R302W,TMEM62:NM_001347012:exon9:c.C904T:p.R302W,TMEM62:NM_001347017:exon9:c.C904T:p.R302W,TMEM62:NM_001347020:exon9:c.C685T:p.R229W,TMEM62:NM_001347024:exon9:c.C685T:p.R229W,TMEM62:NM_001347026:exon9:c.C685T:p.R229W,TMEM62:NM_001347028:exon9:c.C685T:p.R229W,TMEM62:NM_001347031:exon9:c.C1033T:p.R345W,TMEM62:NM_001347033:exon9:c.C1033T:p.R345W,TMEM62:NM_001347034:exon9:c.C676T:p.R226W,TMEM62:NM_001347005:exon10:c.C910T:p.R304W,TMEM62:NM_001347007:exon10:c.C910T:p.R304W,TMEM62:NM_001347009:exon10:c.C904T:p.R302W,TMEM62:NM_001347010:exon10:c.C904T:p.R302W,TMEM62:NM_001347013:exon10:c.C904T:p.R302W,TMEM62:NM_001347014:exon10:c.C910T:p.R304W,TMEM62:NM_001347016:exon10:c.C910T:p.R304W,TMEM62:NM_001347018:exon10:c.C904T:p.R302W,TMEM62:NM_001347004:exon11:c.C910T:p.R304W,TMEM62:NM_001347006:exon11:c.C910T:p.R304W,TMEM62:NM_001347015:exon11:c.C910T:p.R304W,TMEM62:NM_001347032:exon11:c.C1300T:p.R434W,TMEM62:NM_024956:exon11:c.C1300T:p.R434W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0436129403546	.	.	4.122e-05	0	0	0.0005	0	0	0	6.061e-05	3.23e-05	5	154602	rs779738250	2.942e-05	2.941e-05	3.676e-05	2.201e-05	0.0002	2.217e-05	1.97e-05	8.201e-05	5.786e-05	0	2.238e-05	0	0.0002	0	0	2.788e-05	3.312e-05	2.32e-05	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	.	.	2.415e-05	0	6.543e-05	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.062472	0.999997	0.58761	D	2.6	0.76081	M	.	.	.	-3.89	0.72820	D	0.732	0.73285	-0.1936	0.77836	T	0.445	0.78136	T	9	0.7262794	0.73994	D	0.043613	0.61074	D	0.545	0.81077	0.493	0.58048	0.445614145163	0.44183	0.7458712579589349	0.74533	0.659821582233	0.58827	0.392966628075	0.24087	T	0.309772	0.68178	T	0.0195639	0.54322	T	0.120327	0.78258	D	0.719489455223083	0.41673	D	0.948405	0.80130	D	0.4624092	0.64821	0.43834847	0.67223	0.4624092	0.64821	0.43834847	0.67224	-7.57	0.58101	D	.	.	0.254	0.48918	B	.	.	5.212522	0.87464	29.2	0.99926358181799457	0.99103	0.92059	0.54854	D	AEFBI	0.696728	0.65497	D	0.764724216771939	0.83860	8.129445	0.749143382393771	0.86093	8.780277	0.99999999917679	0.74766	0.538715	0.22204	0	0.601575	0.49859	0	0.602189	0.34648	0	0.563494	0.21769	0	.	.	5.96	5.96	0.96695	4.167000	0.57999	7.534000	0.59965	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.12	0.86576	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	983.33	33	chr15	43169596	.	C	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.32;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.025;SOR=0.762	GT:AD:DP:GQ:PL	0/1:27,42:69:99:997,0,585	18	0	1	0
chr15	45105795	45105795	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon18:c.G2182A:p.A728T,DUOX2:NM_014080:exon18:c.G2182A:p.A728T	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1465	57	0	0	57	0.0190827	.	.	YES	237177	Thyroid_dyshormonogenesis_6|not_provided|DUOX2-related_disorder|Meckel_syndrome,_type_11	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900|.|MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	.	0.0058	0.00778754	0.0076	0.0013	0.0118	0	0.0033	0.0104	0.0033	0.0033	0.0074514	1152	154602	rs138353181	0.0078	0.0078	0.0079	0.0078	0.0159	0.0077	0.0076	0.0150	0.0146	0.0014	0.0159	0.0071	2.519e-05	0.0042	0.0121	0.0085	0.0083	0.0031	0.0072	0.0072	0.0067	0.0077	0.0218	0.0069	0.0067	0.0199	0.0191	0.0011	0	0.0218	0.0060	0.0006	0.0039	0.0102	0.0089	0.0128	0.0041	0.374	0.11406	T	0.564	0.08991	T	0.007	0.14184	B	0.002	0.06944	B	0.825073	0.06907	N	1.074620	1	0.08975	N	0.97	0.24054	L	-2.02	0.85542	D	-0.95	0.25332	N	0.038	0.01203	-1.0243	0.22311	T	0.020	0.08313	T	9	0.0038830042	0.00074	T	.	.	.	0.009	0.00846	.	.	0.593685261966	0.59046	0.12669786870932603	0.12595	0.0572892944511	0.06337	0.230289101601	0.01990	T	0.010733	0.33964	T	-0.553604	0.00277	T	-0.55371	0.16972	T	0.000279041109012629	0.00002	T	0.230377	0.03106	T	0.028533112	0.02204	0.061529506	0.11895	0.037409693	0.04789	0.06051655	0.11538	-4.698	0.33380	T	0.13918727483568746	0.15466	0.071	0.03698	B	.;.	.;.	-0.482651	0.01923	0.162	0.89768629720559379	0.19084	0.01838	0.05698	N	AEFDBI	0.063008	0.12147	N	-1.39888798881912	0.02649	0.1172741	-1.41730331490068	0.03079	0.1429207	0.029345584438846	0.13881	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.48	-3.46	0.04465	0.071000	0.14461	-2.371000	0.03838	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.5971:0.1325:0.2704	9.522	0.38305	596	0.68392	.;.	.	.	.	.	rs138353181	Likely benign	0	0	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	0.016113	0.005051	0.021739	0.011696	0.000000	0.025862	0.012195	0.022727	0.1053	4785.43	35	chr15	45105795	.	C	T	4785.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.76;DP=903;ExcessHet=0.7564;FS=1.252;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.15;SOR=0.621	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1089,0,1244	15	0	4	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	0/1:91,33:137:4:4,0,2179	3	0	13	3
chr15	59058487	59058487	T	A	exonic	RNF111	.	nonsynonymous SNV	RNF111:NM_001270528:exon5:c.T1303A:p.S435T,RNF111:NM_001270529:exon5:c.T1303A:p.S435T,RNF111:NM_001270530:exon5:c.T1303A:p.S435T,RNF111:NM_001330331:exon5:c.T1303A:p.S435T,RNF111:NM_017610:exon5:c.T1303A:p.S435T	.	444	1054	22	2	0	26	0.0121837	.	.	.	714511	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00771183391032	0.0015	0.00199681	0.0020	0.0007	0.0041	0	0	0.0025	0.0022	0.0013	0.0018823	291	154602	rs142293140	0.0016	0.0016	0.0016	0.0016	0.0241	0.0015	0.0015	0.0209	0.0196	0.0012	0.0038	0.0049	0	0	0.0241	0.0013	0.0032	0.0017	0.0016	0.0017	0.0015	0.0018	0.0044	0.0015	0.0014	0.0036	0.0033	0.0007	0.0033	0.0044	0.0040	0	0	0.0137	0.0016	0.0061	0.0017	0.004	0.68238	D	0.192	0.28860	T	0.152	0.28062	B	0.107	0.31211	B	0.000812	0.41658	D	0.285166	0.686965	0.33289	D	1.355	0.33814	L	2.41	0.15492	T	-0.35	0.29114	N	0.52	0.56317	-1.0527	0.13655	T	0.021	0.09009	T	10	0.0036854148	0.00068	T	0.007712	0.20457	T	0.041	0.10877	.	.	0.305926609036	0.30200	0.13337447934817176	0.13261	0.031808605618	0.03299	0.409914076328	0.26444	T	0.102497	0.41028	T	-0.461876	0.00957	T	-0.437703	0.29065	T	0.0246301174928638	0.01225	T	0.825917	0.49049	T	0.09783147	0.23067	0.14426728	0.34257	0.09783147	0.23067	0.14426728	0.34256	-3.812	0.21059	T	.	.	0.073	0.07272	B	.;.;.;.;.	.;.;.;.;.	2.225688	0.28409	17.79	0.98288512908733516	0.39926	0.78277	0.38595	D	AEFDBI	0.076830	0.15464	N	-0.210799409194394	0.32690	1.846336	-0.0386504913373798	0.37985	2.231625	0.996372299237139	0.34702	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	3.79	0.42757	1.203000	0.31890	3.459000	0.38500	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2023:0.0:0.7977	9.281	0.36888	525	0.74024	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.025227	0.045455	0.033967	0.032164	0.000000	0.043103	0.006173	0.007576	0.02632	1050.33	33	chr15	59058487	.	T	A	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.401;DP=693;ExcessHet=0;FS=1.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.364;SOR=0.969	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1064,0,779	18	0	1	0
chr15	74754820	74754820	G	T	exonic	CYP1A2	.	nonsynonymous SNV	CYP1A2:NM_000761:exon7:c.G1283T:p.R428L	.	0	1519	3	0	0	3	0.000986518	.	.	.	2203951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.0240813404099	.	0.000199681	8.248e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs145557631	7.252e-05	7.251e-05	6.943e-05	7.564e-05	0.0002	6.115e-05	5.7e-05	7.51e-05	7.001e-05	0	0	0	0	0	0.0002	8.994e-05	6.623e-05	1.159e-05	6.569e-05	6.562e-05	3.857e-05	9.403e-05	0.0001	3.516e-05	2.616e-05	6.807e-05	5.089e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.377	0.11298	T	0.076	0.42614	T	.	.	.	.	.	.	0.015752	0.28162	N	0.406531	0.995186	0.23352	N	2.49	0.72568	M	-0.38	0.69027	T	-2.55	0.55181	D	0.119	0.10911	-0.8971	0.48283	T	0.231	0.59744	T	10	0.41740188	0.56634	T	0.024081	0.47063	T	0.246	0.55340	0.522	0.62518	0.760383269937	0.75820	0.6375686820015581	0.63690	0.084714943131	0.09572	0.21560190618	0.01072	T	0.617779	0.87976	D	-0.234124	0.16106	T	-0.309651	0.43697	T	0.0994252952528494	0.12294	T	0.30177	0.05696	T	0.4235668	0.62328	0.18126234	0.40979	0.4235668	0.62329	0.18126234	0.40978	-10.046	0.74187	D	.	.	0.164	0.36134	B	.	.	1.600670	0.20464	14.76	0.98274497543412531	0.39796	0.84617	0.43701	D	AEFDBIJ	0.730089	0.67759	D	-0.357024802005975	0.27015	1.478893	-0.330701284183989	0.27112	1.502208	0.985755148914546	0.30943	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.43	3.52	0.39415	0.851000	0.27403	0.662000	0.20512	-0.162000	0.11565	0.973000	0.34540	0.000000	0.08366	0.006000	0.07323	0.2522:0.0:0.7478:0.0	7.490	0.26623	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1882.33	84	chr15	74754820	.	G	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=847;ExcessHet=0;FS=5.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=1.16;SOR=1.09	GT:AD:DP:GQ:PL	0/1:67,74:141:99:1896,0,1594	18	0	1	0
chr15	81332868	81332868	C	T	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon22:c.G2854A:p.D952N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0190836924033	.	.	3.434e-05	0	0	0	0	6.249e-05	0	0	2.59e-05	4	154602	rs777007591	1.643e-05	1.642e-05	8.171e-06	2.477e-05	1.799e-05	1.111e-05	9.34e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	4.969e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-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	0.411	0.10148	T	0.461	0.12562	T	0.0	0.02946	B	0.0	0.01387	B	0.514540	0.05166	U	1.430180	1	0.08975	N	1.32	0.33002	L	-0.05	0.63403	T	-0.3	0.11913	N	0.04	0.01347	-1.0237	0.22508	T	0.127	0.43421	T	10	0.04635197	0.03816	T	0.019084	0.41344	T	0.127	0.34888	0.079	0.00631	0.458191732957	0.45445	0.06455161387848159	0.06394	0.144285470447	0.16289	0.243978261948	0.03160	T	0.008517	0.07817	T	-0.414332	0.01861	T	-0.6406	0.09625	T	0.0234012349754781	0.01071	T	0.475352	0.14216	T	0.045253504	0.07375	0.02915017	0.01222	0.045253504	0.07375	0.02915017	0.01222	-3.325	0.14061	T	.	.	0.101	0.17445	B	.;.	.;.	0.437466	0.08075	4.802	0.96136054632364654	0.28820	0.07966	0.13949	N	AEFBI	0.095133	0.19226	N	-1.04110095364502	0.07763	0.3617345	-1.02972231364741	0.09135	0.452814	0.999649127294612	0.41316	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	1.21	0.20240	0.080000	0.14657	0.340000	0.17371	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5432:0.3295:0.1273	9.128	0.35987	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	97	chr15	81332868	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.207;DP=1428;ExcessHet=0;FS=3.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.561;SOR=0.784	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1427,0,1421	18	0	1	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|1:75,39:114:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:709,0,2508:82344920	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|1:75,39:114:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:709,0,2508:82344920	6	1	5	7
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	564.74	17	chr15	82345025	.	G	*	564.74	.	AC=4;AF=0.118;AN=34;BaseQRankSum=2.07;DP=1407;ExcessHet=3.116;FS=20.05;InbreedingCoeff=-0.1871;MLEAC=4;MLEAF=0.118;MQ=44.55;MQRankSum=-0.625;QD=0.92;ReadPosRankSum=-1.64;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,39:114:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:709,0,2508:82344920	13	0	4	2
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|1:99,45:161:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:814,0,3014:82344920	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|1:99,45:161:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:814,0,3014:82344920	6	0	12	1
chr15	89673353	89673353	C	A	exonic	PLIN1	.	nonsynonymous SNV	PLIN1:NM_001145311:exon3:c.G107T:p.C36F,PLIN1:NM_002666:exon3:c.G107T:p.C36F	Lipodystrophy, familial partial, type 4, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	380260	not_provided|Monogenic_diabetes	MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.106	0.0264715335007	0.0006	.	0.0017	0	0	0	0	0.0032	0	0.0001	0.0006856	106	154602	rs140081686	0.0006	0.0006	0.0006	0.0006	0.0002	0.0006	0.0005	0.0001	0.0001	0.0002	0	0.0223	0	1.903e-05	0.0002	0.0001	0.0018	0.0002	0.0006	0.0006	0.0006	0.0006	0.0002	0.0005	0.0005	0.0001	0.0001	2.413e-05	0	6.544e-05	0.0202	0	0	0.0034	0.0002	0.0005	0.0002	0.097	0.30943	T	0.007	0.69154	D	0.999	0.77913	D	0.987	0.77487	D	0.000069	0.52346	D	0.131866	0.594142	0.30995	N	2.665	0.77964	M	3.44	0.05375	T	-1.72	0.40850	N	0.468	0.50418	-1.0893	0.05650	T	0.053	0.22655	T	10	0.008116901	0.00184	T	0.026472	0.49374	D	0.106	0.30130	.	.	0.486779940545	0.48312	0.4969907810911468	0.49620	0.193161676155	0.21650	0.460864007473	0.33429	T	0.256712	0.62766	T	-0.357902	0.04249	T	-0.44733	0.27992	T	0.0662625023497315	0.08116	T	0.821218	0.48050	T	0.30742553	0.53562	0.28353724	0.54347	0.2490106	0.47892	0.32877973	0.58763	-5.28	0.39744	T	0.3107195794300954	0.40859	0.225	0.45641	B	.;.	.;.	4.482808	0.69953	25.5	0.98733698456561014	0.45393	0.36509	0.25549	N	ALL	0.371835	0.45770	N	0.479521933686034	0.65894	4.88041	0.423514975397304	0.63035	4.529316	0.999999997437445	0.74766	0.520426	0.21595	0	0.858003	0.99906	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	4.92	4.92	0.64147	1.666000	0.37076	5.905000	0.50941	0.599000	0.40250	0.774000	0.29403	1.000000	0.68203	0.979000	0.57723	0.0:0.8517:0.1483:0.0	14.408	0.66663	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	533.33	46	chr15	89673353	.	C	A	533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.86;DP=700;ExcessHet=0;FS=3.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.15;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,24:58:99:547,0,876	18	0	1	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	1/1:0,53:53:99:.:.:2331,160,0:.	1	15	1	2
chr15	90390824	90390824	C	T	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon2:c.C106T:p.R36C	.	.	.	.	.	.	.	.	.	.	.	2236999	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.0626335681049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384528019	8.898e-06	8.893e-06	1.09e-05	6.88e-06	2.988e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	2.988e-05	0	0	0	0	0	8.999e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.009	0.66756	D	0.999	0.77913	D	0.802	0.58266	P	0.003838	0.34438	N	0.250639	0.999999	0.58761	D	2.455	0.71248	M	0.89	0.45636	T	-4.68	0.79659	D	0.488	0.52208	-0.9044	0.47515	T	0.172	0.51452	T	10	0.40112016	0.56404	T	0.062634	0.68714	D	0.254	0.56428	0.472	0.54699	0.574529387191	0.57120	0.356582139965324	0.35572	0.369645273994	0.38492	0.70258307457	0.67517	T	0.782306	0.94264	D	-0.0565469	0.43446	T	-0.222148	0.52530	T	0.98808228969574	0.78467	D	0.993351	0.97826	D	0.5621969	0.70631	0.29132807	0.55157	0.5621969	0.70632	0.29132807	0.55156	-11.053	0.79948	D	.	.	0.207	0.43297	B	.;.	.;.	4.842486	0.79077	27.0	0.99596889522218934	0.73983	0.91009	0.52683	D	AEFDBIJ	0.455904	0.50799	N	0.373892311135368	0.60012	4.185635	0.328735554214837	0.57233	3.888488	0.999996691619527	0.74766	0.722319	0.85440	0	0.581341	0.33841	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	4.73	3.79	0.42757	3.767000	0.54998	4.775000	0.44799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.1771:0.8229:0.0:0.0	11.779	0.51271	831	0.39019	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1155.33	33	chr15	90390824	.	C	T	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=729;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.874;SOR=0.81	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1169,0,1537	18	0	1	0
chr15	101370509	101370509	A	G	exonic	PCSK6	.	nonsynonymous SNV	PCSK6:NM_001291309:exon10:c.T1325C:p.V442A,PCSK6:NM_002570:exon12:c.T1547C:p.V516A,PCSK6:NM_138319:exon12:c.T1547C:p.V516A,PCSK6:NM_138323:exon12:c.T1547C:p.V516A,PCSK6:NM_138324:exon12:c.T1547C:p.V516A,PCSK6:NM_138325:exon12:c.T1547C:p.V516A	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0537217913283	0.0003	0.00119808	0.0019	0.0005	0.0031	0	0	0.0014	0.0091	0.0039	0.0003493	54	154602	rs375884418	0.0007	0.0007	0.0007	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0001	0.0008	0.0001	0	0.0002	0.0009	0.0008	0.0006	0.0011	0.0007	0.0007	0.0008	0.0007	0.0029	0.0006	0.0006	0.0022	0.0020	9.617e-05	0	0.0029	0.0003	0	0.0002	0	0.0007	0.0019	0.0012	0.365	0.11732	T	0.753	0.04807	T	0.093	0.26116	B	0.014	0.24256	B	0.035080	0.24690	N	0.432771	0.999966	0.18878	N	0.645	0.16088	N	-2.26	0.87352	D	0.46	0.03140	N	0.067	0.05929	-0.7319	0.58867	T	0.237	0.60487	T	10	0.006486386	0.00147	T	0.053722	0.65581	D	0.024	0.04979	.	.	0.655801921829	0.65292	0.3343863446642598	0.33351	.	.	0.571759641171	0.48927	T	0.11607	0.43513	T	-0.368069	0.03693	T	-0.320496	0.42521	T	0.00581441877139183	0.00064	T	0.546745	0.25688	T	0.04164387	0.06172	0.07834542	0.17538	0.04164387	0.06171	0.07834542	0.17538	-0.495	0.00580	T	.	.	0.082	0.26762	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.830358	0.23256	15.95	0.59884669966212867	0.06330	0.68913	0.33983	D	AEFDGBI	0.391086	0.46967	N	-0.67000991673972	0.16879	0.8638961	-0.516029304111699	0.21719	1.176196	0.999615329024236	0.40981	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.15	0.977	0.18853	1.617000	0.36554	2.919000	0.35553	0.756000	0.94297	0.935000	0.32453	0.968000	0.29604	0.615000	0.31768	0.5468:0.2357:0.0:0.2175	5.157	0.14367	951	0.11083	P domain;Peptidase S8/S53 domain|P domain;.;P domain;P domain;.;.;P 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	0.004376	0.005435	0.000000	0.000000	0.000000	0.000000	0.006536	0.021008	0.02632	1069.33	40	chr15	101370509	.	A	G	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=841;ExcessHet=0;FS=3.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.44;SOR=1.031	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1083,0,1390	18	0	1	0
chr15	101714943	101714943	G	A	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon4:c.C587T:p.T196M	.	438	1064	20	0	0	20	0.00931099	.	.	.	2814541	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.166	.	0.0008	0.00299521	0.0025	0.0002	0.0004	0.0001	0.0015	0.0022	0.0022	0.0083	0.0021733	336	154602	rs148053074	0.0013	0.0014	0.0011	0.0016	0.0084	0.0013	0.0013	0.0079	0.0077	9.007e-05	0.0004	0.0016	7.582e-05	0.0017	0.0042	0.0009	0.0012	0.0084	0.0012	0.0012	0.0011	0.0012	0.0096	0.0010	0.0010	0.0074	0.0066	0.0001	0	0.0005	0.0017	0	0.0010	0.0068	0.0015	0.0014	0.0096	0.048	0.40068	D	0.061	0.47828	T	0.993	0.65571	D	0.87	0.61806	P	0.030279	0.25333	N	0.447102	1	0.08975	N	2.865	0.83145	M	3.3	0.06368	T	-2.61	0.56144	D	0.406	0.44666	-1.0778	0.07781	T	0.045	0.19275	T	10	0.012551904	0.00269	T	.	.	.	0.166	0.42578	.	.	0.654922819804	0.65204	0.5467780833325507	0.54603	0.0724840226661	0.08123	0.326777070761	0.14447	T	0.217899	0.58046	T	-0.492028	0.00633	T	-0.474835	0.24996	T	0.0373221893362915	0.03212	T	0.89841	0.64469	D	0.04345764	0.06775	0.09358877	0.22112	0.04345764	0.06775	0.09358877	0.22111	-8.601	0.65096	D	.	.	0.089	0.15520	B	.;.	.;.	4.152054	0.62284	24.4	0.99813512828511386	0.89708	0.79288	0.39261	D	AEFBI	0.261060	0.37908	N	0.369595672332471	0.59780	4.160503	0.270398489671687	0.53818	3.549044	0.637549102613351	0.22023	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.9	4.04	0.46262	3.995000	0.56715	5.681000	0.49295	0.654000	0.53741	0.881000	0.31008	0.991000	0.31484	0.991000	0.66497	0.2489:0.0:0.7511:0.0	7.740	0.28000	702	0.57624	TGS;TGS	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.018939	0.02632	565.33	33	chr15	101714943	.	G	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.025;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.968;SOR=0.784	GT:AD:DP:GQ:PL	0/1:36,28:64:99:579,0,868	18	0	1	0
chr16	286701	286702	CT	-	exonic	PDIA2	.	frameshift deletion	PDIA2:NM_006849:exon9:c.1388_1389del:p.L464Qfs*13	.	420	1068	34	0	0	34	0.0156682	.	.	.	2810664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0062	0.00439297	0.0065	0.0012	0.0019	0	0.0200	0.0070	0.0115	0.0089	0.0011142	29	26028	rs201624048	0.0054	0.0054	0.0052	0.0057	0.0120	0.0053	0.0053	0.0097	0.0089	0.0007	0.0023	0.0176	2.519e-05	0.0202	0.0120	0.0046	0.0066	0.0084	0.0062	0.0062	0.0056	0.0068	0.0094	0.0058	0.0057	0.0072	0.0068	0.0005	0.0022	0.0029	0.0179	0	0.0217	0.0136	0.0075	0.0080	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011581	0.005051	0.010899	0.002941	0.000000	0.008621	0.006098	0.037879	0.02632	2342.29	40	chr16	286700	.	ACT	A	2342.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.264;DP=917;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=0.94;SOR=0.741	GT:AD:DP:GQ:PL	0/1:58,62:120:99:2356,0,2188	18	0	1	0
chr16	633155	633155	G	C	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.G745C:p.V249L	.	299	1221	2	0	0	2	0.000818331	.	.	.	4098533	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.039681305472	.	0.000199681	6.488e-05	0.0001	0	0	0	5.054e-05	0	0.0002	5.17e-05	8	154602	rs569430619	1.723e-05	1.779e-05	1.505e-05	1.943e-05	0.0002	1.182e-05	9.99e-06	3.792e-05	2.679e-05	0	2.259e-05	0	0	0	0.0002	1.266e-05	3.341e-05	8.179e-05	7.221e-05	7.217e-05	5.138e-05	9.398e-05	0.0005	3.967e-05	3.124e-05	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0	2.94e-05	0	0.0002	0.023	0.48186	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999057	0.45965	D	0.41	0.12415	N	-0.24	0.66834	T	-1.71	0.40660	N	0.739	0.73916	-0.4935	0.68883	T	0.305	0.67612	T	10	0.71972674	0.73581	D	0.039681	0.58946	D	0.366	0.68582	0.624	0.75916	0.703810458386	0.70124	0.46626172297179036	0.46545	0.547174046333	0.51685	0.792344868183	0.80799	T	0.048725	0.28102	T	-0.0701754	0.41298	T	-0.10191	0.63249	T	0.354674786329269	0.27201	T	0.950905	0.81262	D	0.42970842	0.62733	0.284457	0.54444	0.42970842	0.62733	0.284457	0.54443	-3.66	0.18729	T	.	.	0.675	0.71929	P	.	.	4.458330	0.69369	25.4	0.99756719503719515	0.84694	0.92358	0.55527	D	AEFBCI	0.907041	0.86057	D	0.540173512139823	0.69485	5.363695	0.547118883619148	0.71194	5.618238	0.999999994895831	0.74766	0.650006	0.45971	0	0.759151	0.99529	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.7	3.67	0.41236	7.709000	0.83610	9.486000	0.80889	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1636:0.8364:0.0	12.992	0.58028	649	0.63102	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	1825.33	37	chr16	633155	.	G	C	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.129;SOR=0.736	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1839,0,1937	18	0	1	0
chr16	666543	666543	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon38:c.G4829A:p.R1610Q	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0150687382112	0.0024	0.000399361	0.0033	0.0008	0.0011	0	0.0099	0.0045	0.0046	0.0002	0.0030207	467	154602	rs200445238	0.0037	0.0037	0.0038	0.0035	0.0038	0.0036	0.0035	0.0037	0.0036	0.0009	0.0010	0.0123	0	0.0103	0.0026	0.0038	0.0032	0.0003	0.0031	0.0031	0.0031	0.0031	0.0040	0.0029	0.0028	0.0036	0.0035	0.0006	0	0.0010	0.0107	0.0002	0.0105	0.0034	0.0040	0.0033	0.0002	0.41	0.13306	T	0.434	0.13557	T	0.074	0.24142	B	0.005	0.13708	B	0.176318	0.17228	N	0.581348	1	0.08975	N	0.585	0.15399	N	1.66	0.65006	T	-0.45	0.35597	N	0.189	0.20660	-0.9782	0.35413	T	0.087	0.33690	T	10	0.004381418	0.00089	T	0.015069	0.35586	T	0.029	0.06676	.	.	0.134241683229	0.13084	0.3200287605300559	0.31915	0.132204958427	0.14900	0.17972561717	0.00091	T	0.009083	0.08288	T	-0.486079	0.00683	T	-0.470042	0.25511	T	0.00531929489151746	0.00058	T	0.811219	0.46649	T	0.018097382	0.00332	0.027702805	0.00943	0.018097382	0.00332	0.027702805	0.00943	-5.137	0.38295	T	.	.	0.062	0.02639	B	.;.;.	.;.;.	0.232145	0.06131	2.579	0.97370586110055846	0.33622	0.01741	0.05494	N	AEFBI	0.065873	0.12872	N	-1.28501229149179	0.03855	0.1729725	-1.30020059666388	0.04429	0.2088569	0.999965336122427	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.75	-4.75	0.03003	0.356000	0.19918	-3.948000	0.02434	-0.114000	0.14653	0.166000	0.23880	0.000000	0.08366	0.045000	0.14751	0.8083:0.0:0.1917:0.0	13.935	0.63529	649	0.63102	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2221.33	80	chr16	666543	.	G	A	2221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=1469;ExcessHet=0;FS=5.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.09;SOR=0.989	GT:AD:DP:GQ:PL	0/1:79,85:164:99:2235,0,1910	18	0	1	0
chr16	697179	697179	G	A	exonic	FBXL16	.	nonsynonymous SNV	FBXL16:NM_153350:exon2:c.C227T:p.P76L	.	443	1060	18	1	0	20	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.303235837578	.	0.00159744	0.0008	0	0.0006	0.0002	0	0.0002	0.0039	0.0058	0.0005757	89	154602	rs546035990	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0043	9.255e-05	0.0005	0	5.119e-05	0	0.0019	9.722e-05	0.0007	0.0049	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0029	2.423e-05	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0050	0.055	0.38407	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.377362	0.04399	N	1.363540	0.999999	0.08975	N	1.1	0.28011	L	-1.66	0.82715	D	0.05	0.06369	N	0.081	0.05670	-0.8396	0.52673	T	0.336	0.70240	T	10	0.006508887	0.00147	T	0.303236	0.90951	D	0.247	0.55478	.	.	0.043077524339	0.03247	0.1932414902649941	0.19242	0.541579872358	0.51303	0.547271966934	0.45472	T	0.023791	0.18095	T	-0.500643	0.00567	T	-0.491512	0.23232	T	0.00867409649268681	0.00106	T	0.415458	0.10884	T	0.0373176	0.04761	0.06367278	0.12647	0.0373176	0.04761	0.06367278	0.12646	-4.061	0.24713	T	.	.	0.069	0.03372	B	.;.	.;.	1.601706	0.20476	14.77	0.7419711608897287	0.10606	0.31140	0.24262	N	AEFBI	0.126407	0.24334	N	-1.42038254293234	0.02460	0.1086549	-1.37888627048301	0.03478	0.1623141	0.180202301815477	0.17861	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.04	1.98	0.25351	1.229000	0.32202	4.336000	0.43042	-0.391000	0.05343	0.887000	0.31133	0.987000	0.30940	0.004000	0.06068	0.0836:0.0:0.7731:0.1433	9.957	0.40843	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	0.002035	0.000000	0.000000	0.002959	0.000000	0.008772	0.003125	0.003817	0.05263	1309.83	46	chr16	697179	.	G	A	1309.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.95;DP=643;ExcessHet=0.119;FS=2.178;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=1.41;SOR=1.133	GT:AD:DP:GQ:PL	0/1:15,25:40:99:756,0,298	17	0	2	0
chr16	2119356	2119356	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon2:c.C238T:p.R80W,PKD1:NM_001009944:exon2:c.C238T:p.R80W	Polycystic kidney disease, adult type I, Autosomal dominant	545	969	8	0	0	8	0.004111	.	.	YES	577534	not_provided|PKD1-related_disorder|Polycystic_kidney_disease	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.120	.	.	0.00219649	0.0075	0	0	0	0	0	0	0.0121	0.0006921	107	154602	rs551353498	0.0005	0.0005	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	9.95e-05	2.807e-05	4.037e-05	5.652e-05	0	0.0010	3.939e-05	0.0007	0.0078	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0002	0.0039	0.0034	2.405e-05	0	0.0001	0	0	0	0	7.35e-05	0.0005	0.0056	0.015	0.52492	D	0.012	0.63918	D	0.9	0.73220	P	0.091	0.55321	B	0.199432	0.03309	N	1.587640	0.999614	0.20864	N	1.58	0.39772	L	0.26	0.59314	T	-1.81	0.42575	N	0.193	0.21188	-0.8608	0.51205	T	0.248	0.61774	T	10	0.0040474236	0.00079	T	.	.	.	0.120	0.33359	0.512	0.61000	0.644203187842	0.64126	0.46324754649053035	0.46243	.	.	0.451600849628	0.32163	T	0.214	0.57610	T	-0.43056	0.01471	T	-0.38357	0.35305	T	0.060400952942826	0.07232	T	0.823318	0.48387	T	0.088110246	0.20543	0.085825704	0.19842	0.09365176	0.22001	0.08501236	0.19598	-5.776	0.44365	T	0.1541497049771006	0.18388	0.087	0.11317	B	.;.	.;.	3.002038	0.40112	21.1	0.99866667057876324	0.94457	0.23783	0.22187	N	AEFBI	0.174533	0.30167	N	0.0103354221585962	0.42325	2.548011	-0.0823472277313929	0.36119	2.098032	0.938425350888014	0.27342	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.27	3.23	0.36150	1.406000	0.34254	5.270000	0.48149	0.660000	0.55035	0.052000	0.21487	0.994000	0.32194	0.120000	0.19168	0.1125:0.0:0.6076:0.2799	4.794	0.12630	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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	620.33	34	chr16	2119356	.	G	A	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.86;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.04;MQRankSum=-1.209;QD=13.2;ReadPosRankSum=-0.807;SOR=1.008	GT:AD:DP:GQ:PL	0/1:27,20:47:99:634,0,837	18	0	1	0
chr16	3582659	3582659	A	G	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon15:c.T5188C:p.S1730P	Fanconi anemia, complementation group P, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	466652	Fanconi_anemia|not_provided|Fanconi_anemia_complementation_group_P	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.144	0.061956147372	0.0002	.	5.875e-05	0	0	0	0	4.575e-05	0	0.0002	5.17e-05	8	154602	rs199838670	3.56e-05	3.557e-05	3.27e-05	3.852e-05	0.0003	2.764e-05	2.503e-05	8.886e-05	7.054e-05	0	4.472e-05	0	0	0	0.0003	2.788e-05	6.624e-05	0.0002	4.603e-05	4.598e-05	3.857e-05	5.385e-05	0.0002	2.111e-05	1.528e-05	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	4.412e-05	0.0005	0	0.009	0.57480	D	0.027	0.55341	D	0.996	0.68779	D	0.853	0.60815	P	0.066261	0.21823	N	0.471664	0.975019	0.25458	N	1.385	0.34509	L	4.97	0.01356	T	-3.07	0.63207	D	0.356	0.39760	-0.9947	0.31379	T	0.012	0.04558	T	10	0.31724864	0.49137	T	0.061956	0.68497	D	0.144	0.38394	.	.	0.545045102275	0.54158	0.25370674246097147	0.25284	0.355894172797	0.37344	0.386134147644	0.23124	T	0.295765	0.66842	T	-0.280291	0.10637	T	-0.366096	0.37346	T	0.401460787524285	0.28997	T	0.442656	0.12286	T	0.393662	0.60291	0.42422426	0.66268	0.3775788	0.59141	0.36017978	0.61464	-4.13	0.25730	T	.	.	0.195	0.41648	B	.	.	4.112388	0.61406	24.3	0.99839048937379082	0.91972	0.98969	0.89329	D	AEFDBIJ	0.701656	0.65828	D	0.437187936238499	0.63479	4.582557	0.413241164870783	0.62389	4.453455	0.98846482491528	0.31525	0.732398	0.92422	0	0.743671	0.97443	0	0.80507	0.99327	0	0.699875	0.68795	0	.	.	5.04	5.04	0.67293	5.926000	0.69791	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	1.0:0.0:0.0:0.0	12.514	0.55366	587	0.69154	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	632.33	35	chr16	3582659	.	A	G	632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.244;SOR=0.569	GT:AD:DP:GQ:PL	0/1:44,25:69:99:646,0,1211	18	0	1	0
chr16	4335177	4335177	C	T	exonic	GLIS2	.	stopgain	GLIS2:NM_032575:exon5:c.C640T:p.R214X,GLIS2:NM_001318918:exon6:c.C640T:p.R214X	Nephronophthisis 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000005	0.62929	D	0.060935	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.878	0.87699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.514664	0.99019	41	0.99693782727575053	0.80112	0.81773	0.41110	D	AEFDBHCI	0.216329	0.34159	N	0.799553848743618	0.86078	8.771382	0.656931498110089	0.79127	7.017347	0.999166896435725	0.38622	0.706548	0.73137	0	0.550933	0.16991	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	2.026000	0.40689	4.840000	0.45276	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.551000	0.30197	0.1532:0.8468:0.0:0.0	13.880	0.63177	793	0.45818	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	2146.33	33	chr16	4335177	.	C	T	2146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.563;SOR=0.711	GT:AD:DP:GQ:PL	0/1:59,78:137:99:2160,0,1355	18	0	1	0
chr16	10533026	10533026	G	A	exonic	EMP2	.	nonsynonymous SNV	EMP2:NM_001424:exon5:c.C383T:p.A128V	Nephrotic syndrome, type 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1941167	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.403	0.047347896458	7.7e-05	0.000399361	4.947e-05	0.0005	0	0	0	1.5e-05	0	0	5.17e-05	8	154602	rs373205953	2.879e-05	2.941e-05	3.273e-05	2.48e-05	0.0004	2.155e-05	1.911e-05	0.0003	0.0002	0.0004	2.251e-05	0	0	0	0	1.981e-05	4.975e-05	2.336e-05	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	4.414e-05	0	0	0.311	0.13971	T	0.282	0.21545	T	0.001	0.07471	B	0.0	0.01387	B	0.000001	0.00162	U	43.698300	1	0.08975	N	0	0.06538	N	-2.45	0.88847	D	-0.21	0.10308	N	0.129	0.20129	-0.7756	0.56548	T	0.373	0.73159	T	10	0.015414298	0.00324	T	0.047348	0.62879	D	0.403	0.71636	.	.	0.347217280506	0.34334	0.5345884180697675	0.53383	0.0330330599586	0.03452	0.226104706526	0.01693	T	0.248039	0.61778	T	-0.408718	0.02027	T	-0.456122	0.27023	T	0.0262053402367269	0.01433	T	0.213579	0.02626	T	0.03311311	0.03467	0.03131261	0.01704	0.03311311	0.03467	0.03131261	0.01703	-2.892	0.09064	T	0.09296943877783413	0.06066	0.070	0.03515	B	.;.	.;.	-4.009261	0.00001	0.001	0.72734735845102738	0.10077	0.01354	0.04641	N	AEFBI	0.132949	0.25243	N	-2.8148164465413	0.00002	0.0001253899	-2.93251721904919	0.00002	9.715149e-05	1.0	0.98316	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.26	-10.5	0.00234	-6.851000	0.00064	.	.	-4.134000	0.00041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.177:0.3131:0.1187:0.3911	2.885	0.05311	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	.	.	.	.	.	.	.	.	0.02632	337.33	33	chr16	10533026	.	G	A	337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=671;ExcessHet=0;FS=4.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=0.259;SOR=0.269	GT:AD:DP:GQ:PL	0/1:31,17:48:99:351,0,804	18	0	1	0
chr16	10757971	10757971	G	A	exonic	NUBP1	.	nonsynonymous SNV	NUBP1:NM_001278506:exon6:c.G517A:p.V173I,NUBP1:NM_001323594:exon6:c.G481A:p.V161I,NUBP1:NM_001323595:exon7:c.G550A:p.V184I,NUBP1:NM_001323596:exon7:c.G550A:p.V184I,NUBP1:NM_001323597:exon7:c.G403A:p.V135I,NUBP1:NM_002484:exon7:c.G550A:p.V184I	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0203239130858	.	0.00179712	0.0009	0	0	0	0	0.0001	0	0.0062	0.0007827	121	154602	rs556528701	0.0004	0.0004	0.0003	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	0	0.0002	0	2.519e-05	0.0004	0.0002	4.137e-05	0.0004	0.0061	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	7.225e-05	0	0.0001	0	0	9.436e-05	0.0068	2.94e-05	0	0.0048	0.102	0.30235	T	0.19	0.29843	T	0.376	0.36524	B	0.177	0.35687	B	0.000025	0.55875	D	0.118078	0.999983	0.54805	D	1.525	0.38595	L	1.47	0.31987	T	-0.7	0.19933	N	0.325	0.37405	-1.0878	0.05908	T	0.070	0.28642	T	10	0.009803742	0.00220	T	0.020324	0.42890	T	0.102	0.29158	.	.	0.335661160332	0.33175	0.6675080263785818	0.66688	0.0215515716636	0.02143	0.570776462555	0.48787	T	0.025527	0.19070	T	-0.488156	0.00665	T	-0.471922	0.25309	T	0.0426443975695784	0.04172	T	0.875712	0.58780	D	0.033956986	0.03719	0.06278157	0.12336	0.033956986	0.03719	0.06278157	0.12336	-7.214	0.55582	T	.	.	0.113	0.23465	B	.;.;.	.;.;.	3.289486	0.45108	22.1	0.98792741845414422	0.46317	0.96806	0.71039	D	AEFGBI	0.683548	0.64619	D	-0.0826683198066108	0.38151	2.230217	-0.0488422565137635	0.37540	2.199418	0.993888284514709	0.33395	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	4.18	0.48473	6.098000	0.71106	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.374000	0.26200	0.0:0.1594:0.8406:0.0	13.199	0.59182	940	0.13648	.;AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2150.33	39	chr16	10757971	.	G	A	2150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.406;DP=776;ExcessHet=0;FS=1.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-0.181;SOR=0.856	GT:AD:DP:GQ:PL	0/1:47,86:133:99:2164,0,966	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	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	0/1:94,50:166:99:115,0,1348	4	0	15	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	0/1:18,17:35:99:342,0,406	15	0	2	2
chr16	23532679	23532679	C	T	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon5:c.G1045A:p.E349K,EARS2:NM_001308211:exon5:c.G1045A:p.E349K	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	413435	Mitochondrial_disease|not_provided|Inborn_genetic_diseases|Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome	MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013971,MedGen:C4706421,OMIM:614924,Orphanet:314051	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	0.00808551042589	0.0018	0.000998403	0.0013	0	0.0004	0	0	0.0023	0.0012	0	0.0013583	210	154602	rs187662524	0.0015	0.0015	0.0015	0.0015	0.0019	0.0015	0.0014	0.0017	0.0017	0.0004	0.0013	0.0022	0	0.0002	0.0019	0.0018	0.0015	4.64e-05	0.0014	0.0014	0.0015	0.0013	0.0031	0.0013	0.0012	0.0024	0.0021	0.0004	0	0.0031	0.0017	0	9.42e-05	0	0.0020	0.0033	0	0.014	0.53172	D	0.097	0.39799	T	0.016	0.17332	B	0.042	0.24114	B	0.001317	0.39449	N	0.307856	0.999973	0.53665	D	0.62	0.15745	N	0.91	0.44856	T	-2.53	0.54864	D	0.494	0.52740	-1.0916	0.05270	T	0.060	0.24981	T	10	0.020168513	0.00461	T	0.008086	0.21444	T	0.089	0.25827	.	.	0.6276227268	0.62458	0.37330750199411467	0.37244	0.219153221451	0.24453	0.508318901062	0.39988	T	0.640952	0.88989	D	-0.417469	0.01775	T	-0.377989	0.35958	T	0.0434329083334966	0.04317	T	0.892211	0.62852	D	0.25050807	0.48053	0.23469113	0.48693	0.23387328	0.46198	0.24440633	0.49905	-5.755	0.45588	T	0.193703947569876	0.25497	0.131	0.29751	B	.;.;.;.	.;.;.;.	3.614417	0.51120	23.0	0.99743958361148477	0.83703	0.97073	0.72532	D	AEFDBI	0.699679	0.65695	D	-0.028728629606181	0.40557	2.410608	0.117047865392714	0.45420	2.805525	0.875477218230728	0.25506	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.65	3.54	0.39650	4.652000	0.61149	4.187000	0.42377	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7259:0.2741:0.0	14.775	0.69352	309	0.87553	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.002924	0.050000	0.000000	0.006098	0.000000	0.02632	873.33	33	chr16	23532679	.	C	T	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.065;DP=729;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=1.33;SOR=1.069	GT:AD:DP:GQ:PL	0/1:54,36:90:99:887,0,1426	18	0	1	0
chr16	29381894	29381894	C	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G3038T:p.G1013V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0177785271116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243470871	1.872e-05	5.85e-05	0	3.51e-05	4.091e-05	8.8e-06	6.38e-06	6.78e-06	3.64e-06	0	0	6.991e-05	0	0	0	1.711e-05	3.714e-05	4.091e-05	0.0002	0.0002	0.0004	0	0.0016	5.649e-05	3.035e-05	.	.	0	0	0	0	0.0016	0.0021	0	0	0	0	0.218	0.19090	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.78	0.21644	N	0.133	0.12913	-1.0137	0.25752	T	0.027	0.11751	T	4	0.14362982	0.27267	T	0.017779	0.39611	T	0.029	0.06676	0.138	0.04187	0.407901774203	0.40404	0.01258017048705918	0.01217	.	.	.	.	.	0.008472	0.07774	T	-0.32367	0.06602	T	-0.702706	0.05679	T	0.0570433831746939	0.06695	T	0.134587	0.01064	T	0.07777633	0.17673	0.10902391	0.26271	0.07777633	0.17672	0.10902391	0.26271	-6.909	0.53365	T	.	.	0.439	0.61659	A	.	.	0.893363	0.12667	9.193	0.93809876376448986	0.23785	0.00072	0.00504	N	AEFI	0.042246	0.06531	N	-0.726350605316632	0.15284	0.7688897	-0.816126234067725	0.14104	0.7352808	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-1.786000	0.01862	-6.505000	0.01380	-1.512000	0.01014	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	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	318.34	12	chr16	29381894	.	C	A	318.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=559;ExcessHet=0;FS=13.542;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=38.32;MQRankSum=-1.71;QD=4.61;ReadPosRankSum=-3.895;SOR=3.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,12:69:99:0|1:29381893_C_A:332,0,2348:29381893	18	0	1	0
chr16	29381898	29381898	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C3034T:p.R1012W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0309293672099	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758783104	1.049e-05	4.798e-05	4.494e-06	1.573e-05	2.033e-05	4.07e-06	2.23e-06	1.16e-06	4.4e-07	0	0	6.833e-05	0	0	0	6.981e-06	3.707e-05	2.033e-05	0.0002	7.329e-05	0.0002	0.0001	0.0015	4.913e-05	2.632e-05	.	.	0.0005	0	0	0	0.0015	0.0009	0	0	0	0	0.104	0.29959	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-1.03	0.27052	N	0.094	0.07398	-0.9951	0.31272	T	0.029	0.12409	T	4	0.07890633	0.12633	T	0.030929	0.53130	D	0.009	0.00846	0.222	0.14518	0.342168650903	0.33825	0.02124264692172073	0.02077	.	.	.	.	.	0.011715	0.10413	T	-0.273434	0.11377	T	-0.630546	0.10374	T	0.186003908514977	0.19606	T	0.905509	0.66687	D	0.04954826	0.08816	0.075070485	0.16489	0.04954826	0.08815	0.075070485	0.16489	-9.643	0.71746	D	.	.	0.674	0.71904	P	.	.	2.107173	0.26815	17.25	0.99631357908260298	0.76081	0.00068	0.00484	N	AEFI	0.072196	0.14400	N	-0.691192422539428	0.16272	0.8275208	-0.799880462443643	0.14498	0.7578326	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.161000	0.16298	-1.797000	0.04708	0.172000	0.17770	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02941	241.15	12	chr16	29381898	.	G	A	241.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.02;DP=559;ExcessHet=0;FS=11.27;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.029;MQ=38.13;MQRankSum=-1.921;QD=3.71;ReadPosRankSum=-3.899;SOR=2.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,10:65:99:0|1:29381893_C_A:254,0,2259:29381893	16	0	1	2
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|1:37,17:63:99:1|0:29485610_ACACACTC_A:732,0,1521:29485610	5	0	12	2
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7100.79	44	chr16	29810105	.	GGCAGCGGCA	G	7100.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/1:61,72:133:99:2690,0,2197	15	0	4	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1468.78	44	chr16	29810108	.	AGCGGCAGCG	*	1468.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/1:61,72:133:99:2690,0,2197	14	0	5	0
chr16	57679189	57679189	G	A	exonic	ADGRG3	.	nonsynonymous SNV	ADGRG3:NM_001308360:exon4:c.G145A:p.G49S,ADGRG3:NM_170776:exon5:c.G505A:p.G169S	.	423	1098	1	0	0	1	0.000455166	.	.	.	4124306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00509636501075	.	.	8.246e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs748394746	4.789e-06	4.788e-06	2.723e-06	6.877e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0	1.799e-06	3.312e-05	2.319e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.609	0.05485	T	0.578	0.08565	T	0.004	0.12183	B	0.002	0.06944	B	0.782786	0.06664	N	1.111830	1	0.08975	N	.	.	.	1.66	0.27486	T	0.58	0.02853	N	0.083	0.06059	-0.9871	0.33323	T	0.015	0.05994	T	10	0.03132212	0.01266	T	0.005096	0.12908	T	0.019	0.03383	0.325	0.30711	0.0138822411134	0.00435	0.2847117858820071	0.28384	0.130843865944	0.14763	0.269789993763	0.06114	T	0.014298	0.12197	T	-0.539752	0.00336	T	-0.831565	0.01235	T	0.0290543416412276	0.01845	T	0.521348	0.16985	T	0.038884487	0.05266	0.03665926	0.03158	0.038884487	0.05266	0.03665926	0.03157	-4.668	0.33015	T	.	.	0.067	0.02993	B	.;.	.;.	0.201427	0.05860	2.302	0.7514812871584805	0.10963	0.00514	0.02403	N	AEFDBI	0.040401	0.06005	N	-1.67763129044833	0.00924	0.04001766	-1.62197114644339	0.01527	0.06916675	0.999815131298453	0.43459	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.5	-2.78	0.05512	-0.301000	0.08269	1.007000	0.23304	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.295:0.216:0.3435:0.1456	1.320	0.01986	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	829.33	35	chr16	57679189	.	G	A	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.738;DP=740;ExcessHet=0;FS=1.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-1.436;SOR=0.486	GT:AD:DP:GQ:PL	0/1:45,36:81:99:843,0,1015	18	0	1	0
chr16	58258525	58258525	T	C	splicing	CCDC113	NM_014157:exon4:c.546+2T>C;NM_001142302:exon3:c.384+2T>C	.	.	.	0	225	1	0	0	1	0.00221729	0.9888	0.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259498	0.79484	D	0.134974	0.79218	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.769368	0.77191	26.7	0.99372499120677349	0.61498	0.96917	0.71647	D	AEFDIJ	.	.	.	0.987979561744433	0.95362	13.54862	0.811490197767643	0.90581	10.47269	0.999992884620203	0.74766	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.057018	0.00518	0	0.953317	0.62732	5.1	5.1	0.68917	5.103000	0.64415	7.679000	0.65195	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:0.0:1.0	13.125	0.58766	778	0.48011	.;.;.	.	.	.	.	.	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	841.33	38	chr16	58258525	.	T	C	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=709;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.262;SOR=0.808	GT:AD:DP:GQ:PL	0/1:45,35:80:99:855,0,1153	18	0	1	0
chr16	66911953	66911953	G	T	exonic	CDH16	.	nonsynonymous SNV	CDH16:NM_001204746:exon12:c.C1445A:p.A482D,CDH16:NM_001204744:exon13:c.C1736A:p.A579D,CDH16:NM_001204745:exon13:c.C1736A:p.A579D,CDH16:NM_004062:exon13:c.C1736A:p.A579D	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.127586401688	.	.	1.663e-05	0	0	0	0	3.016e-05	0	0	1.29e-05	2	154602	rs762340674	2.053e-05	2.052e-05	1.906e-05	2.202e-05	0.0002	1.457e-05	1.264e-05	1.747e-05	1.504e-05	0	0	0	0	0	0.0002	2.519e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.51248	D	0.027	0.56192	D	0.959	0.55135	D	0.714	0.54635	P	0.000463	0.44119	D	0.195299	0.998882	0.45620	D	2.565	0.75005	M	0.41	0.62183	T	-2.37	0.52776	N	0.667	0.74918	-0.3506	0.73536	T	0.339	0.70551	T	10	0.7501637	0.75578	D	0.127586	0.80941	D	0.207	0.49555	0.374	0.38667	0.858164006489	0.85679	0.38585857428535286	0.38500	0.401367864666	0.41119	0.378933727741	0.22105	T	0.21129	0.57202	T	0.0108363	0.53139	T	-0.158565	0.58480	T	0.916222095489502	0.57356	D	0.886711	0.61387	D	0.28362486	0.51394	0.42935845	0.66620	0.28362486	0.51394	0.42935845	0.66620	-6.567	0.53004	T	.	.	0.168	0.43325	B	.;.;.;.;.	.;.;.;.;.	2.481849	0.32005	18.91	0.99175455068218432	0.54527	0.91813	0.54318	D	AEFDBI	0.361295	0.45096	N	0.356390898531436	0.59077	4.084369	0.326878373329968	0.57124	3.877197	0.99996014352243	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	3.596000	0.53770	6.650000	0.56213	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	15.248	0.73212	109	0.95526	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	822.33	35	chr16	66911953	.	G	T	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.424;DP=710;ExcessHet=0;FS=3.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.524;SOR=0.409	GT:AD:DP:GQ:PL	0/1:42,36:78:99:836,0,1154	18	0	1	0
chr16	67193474	67193474	T	C	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon4:c.T410C:p.L137S	.	429	1083	9	1	0	11	0.00505282	0.4131	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00950207212434	.	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0005	0.0001358	21	154602	rs202020885	0.0001	0.0001	8.712e-05	0.0001	0.0014	9.333e-05	8.817e-05	0.0007	0.0005	8.961e-05	0.0003	0.0007	0	0	0.0014	4.586e-05	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.098	0.30800	T	0.206	0.27056	T	0.917	0.50750	P	0.421	0.45113	B	0.336219	0.14035	N	0.703399	0.999231	0.46406	D	2.27	0.64531	M	2.08	0.20255	T	-2.53	0.54864	D	0.687	0.69300	-1.1134	0.02793	T	0.053	0.22655	T	10	0.19820952	0.35782	T	0.009502	0.24878	T	0.189	0.46613	.	.	0.591791014774	0.58856	0.5366381676944586	0.53588	0.285334489928	0.30943	0.730908751488	0.71639	T	0.235799	0.60314	T	-0.32195	0.06739	T	-0.336072	0.40790	T	0.165641661766972	0.18279	T	0.672333	0.28093	T	0.37023276	0.58602	0.26471442	0.52295	0.37023276	0.58603	0.26471442	0.52294	-11.386	0.81732	D	.	.	0.576	0.67894	P	.	.	5.492211	0.91494	32	0.94090689682085182	0.24246	0.90731	0.52154	D	AEFBCI	0.662610	0.63242	D	0.371654984131442	0.59891	4.172489	0.393942220486383	0.61191	4.315774	0.99999754418992	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.81	3.72	0.41857	5.673000	0.67781	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.813	0.34137	39	0.97975	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB 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	.	.	.	.	.	.	.	.	0.05263	4728.83	264	chr16	67193474	.	T	C	4728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=1095;ExcessHet=0.119;FS=1.11;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.29;SOR=0.792	GT:AD:DP:GQ:PL	0/1:130,89:219:99:2000,0,3245	17	0	2	0
chr16	67195787	67195787	G	A	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon7:c.G814A:p.G272S	.	395	1126	1	0	0	1	0.000443853	.	.	.	2298788	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.337	0.0366200009626	.	.	8.274e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs758224346	5.473e-06	5.472e-06	2.723e-06	8.251e-06	9.275e-05	2.35e-06	1.7e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	0	0	9.275e-05	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.399	0.10517	T	0.832	0.03695	T	0.001	0.07471	B	0.003	0.08700	B	0.892611	0.07305	N	1.055090	0.999954	0.19072	N	0.41	0.12415	N	-2.16	0.86549	D	0.32	0.03955	N	0.184	0.19995	-0.8126	0.54393	T	0.326	0.69418	T	10	0.04124099	0.02761	T	0.03662	0.57104	D	0.337	0.65913	0.111	0.02112	0.582733548269	0.57945	0.24335775497765746	0.24249	0.182812000047	0.20551	0.289771199226	0.08889	T	0.105124	0.41532	T	-0.175483	0.24411	T	-0.253177	0.49503	T	0.0228969615410298	0.01011	T	0.709329	0.31993	T	0.052166075	0.09688	0.053879533	0.09161	0.052166075	0.09688	0.053879533	0.09161	-2.632	0.06750	T	.	.	0.068	0.02797	B	.	.	0.810908	0.11816	8.388	0.99535162027902102	0.70150	0.22260	0.21686	N	AEFDBHCI	0.107203	0.21366	N	-0.967082803828445	0.09313	0.4402544	-0.856715733833553	0.13126	0.6792312	0.999970093566556	0.50053	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	1.96	0.25203	-0.230000	0.09093	2.834000	0.35039	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.918000	0.45347	0.2685:0.0:0.7315:0.0	7.903	0.28907	37	0.98026	.	.	.	.	.	.	Likely benign	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	1305.33	41	chr16	67195787	.	G	A	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.716;DP=745;ExcessHet=0;FS=8.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.946;SOR=0.224	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1319,0,1259	18	0	1	0
chr16	67660199	67660199	C	T	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon1:c.G22A:p.V8I,ACD:NM_022914:exon1:c.G22A:p.V8I	.	384	1125	12	1	0	14	0.00618375	.	.	.	429837	Dyskeratosis_congenita,_autosomal_dominant_6|not_provided|ACD-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	.	0.0007	0.000998403	0.0008	0.0006	0.0012	0	0	0.0010	0.0059	0.0005	0.000718	111	154602	rs149365469	0.0006	0.0006	0.0005	0.0006	0.0290	0.0005	0.0005	0.0254	0.0240	0.0007	0.0011	0.0020	0	0	0.0290	0.0004	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0018	0.0005	0.0005	0.0012	0.0011	0.0005	0	0.0018	0.0009	0	0	0.0374	0.0004	0.0028	0.0006	.	.	.	0.031	0.53788	D	0.355	0.33731	B	0.073	0.28123	B	0.053064	0.22840	N	0.313336	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.088	0.16028	-1.0467	0.15332	T	0.045	0.19194	T	10	0.009870857	0.00221	T	.	.	.	0.019	0.03383	.	.	0.146414634003	0.14194	0.09386438995845912	0.09318	0.139486507341	0.15724	0.479659438133	0.36009	T	0.229699	0.59558	T	-0.575093	0.00206	T	-0.649298	0.09002	T	0.0149048827742313	0.00317	T	0.672333	0.28093	T	0.12558973	0.29437	0.1416343	0.33721	0.17041984	0.37615	0.14991881	0.35377	.	.	.	0.3533138073722568	0.45034	0.138	0.35870	B	.;.;.;.;.;.	.;.;.;.;.;.	1.979646	0.25148	16.66	0.98905138345194532	0.48272	0.13423	0.17847	N	ALL	0.101833	0.20442	N	-0.641788692678365	0.17700	0.9130168	-0.68079355440786	0.17441	0.9274243	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.47	0.38831	0.057000	0.14157	2.200000	0.31279	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.185000	0.21450	0.0:0.8751:0.0:0.1249	7.470	0.26514	42	0.97857	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.030303	0.013624	0.061404	0.000000	0.043103	0.000000	0.003788	0.02632	1099.33	33	chr16	67660199	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.563;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.411;SOR=0.758	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1113,0,1406	18	0	1	0
chr16	68122320	68122320	G	C	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_004555:exon2:c.G437C:p.R146T,NFATC3:NM_173163:exon2:c.G437C:p.R146T,NFATC3:NM_173165:exon2:c.G437C:p.R146T	.	430	1087	4	1	0	6	0.00275229	.	.	.	2298825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.429	0.0360440679518	.	.	2.475e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767704241	1.094e-05	1.094e-05	6.806e-06	1.513e-05	0.0002	6.48e-06	5.24e-06	0.0001	9.45e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.23007	T	0.48	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.02	0.25474	L	2.95	0.09635	T	-1.66	0.39692	N	0.761	0.93841	-1.1708	0.00524	T	0.065	0.26772	T	9	0.5445495	0.63909	D	0.036044	0.56740	D	0.429	0.73590	0.221	0.14371	0.469922601075	0.46621	0.5988250057638664	0.59813	0.509076387246	0.49044	0.798245608807	0.81696	T	0.180625	0.53202	T	-0.0393023	0.46053	T	0.00609236	0.70729	D	0.317852586959414	0.25734	T	0.90371	0.66210	D	0.76103187	0.81514	0.37448645	0.62613	0.76103187	0.81515	0.37448645	0.62613	-3.845	0.21478	T	.	.	0.660	0.72201	P	.;.;.;.	.;.;.;.	4.770930	0.77233	26.7	0.97178160849562012	0.32709	0.99153	0.92009	D	AEFDBI	0.909773	0.86683	D	0.704811831473031	0.79949	7.186928	0.730280473975919	0.84676	8.359309	0.999999999999994	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	9.512000	0.97013	11.929000	0.99898	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.310	0.94170	11	0.98996	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1964.33	45	chr16	68122320	.	G	C	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=894;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.298;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,76:163:99:1978,0,2492	18	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	125.37	209	chr16	68828281	.	G	C	125.37	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.919;DP=2448;ExcessHet=0.3672;FS=188.579;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=-0.861;SOR=8.813	GT:AD:DP:GQ:PL	0/1:120,30:150:19:19,0,2689	9	0	3	7
chr16	70253980	70253980	T	C	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon18:c.A2459G:p.K820R	.	0	1520	2	0	0	2	0.000657462	.	.	.	222533	Charcot-Marie-Tooth_disease_axonal_type_2N|not_provided|Charcot-Marie-Tooth_disease_type_2|not_specified|Inborn_genetic_diseases|AARS1-related_disorder	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.212	0.0200852177738	0.0012	0.00199681	0.0014	0.0006	0.0028	0	0.0011	0.0018	0.0033	0.0004	0.0016041	248	154602	rs147319762	0.0026	0.0026	0.0026	0.0025	0.0064	0.0025	0.0025	0.0048	0.0042	0.0004	0.0038	0	0	0.0009	0.0064	0.0030	0.0019	0.0005	0.0018	0.0018	0.0016	0.0020	0.0056	0.0016	0.0015	0.0046	0.0043	0.0003	0	0.0056	0	0	0.0012	0	0.0023	0.0014	0.0002	0.149	0.24758	T	0.223	0.25670	T	0.984	0.60733	D	0.859	0.61184	P	0.000000	0.84330	D	0.046076	1	0.81001	D	2.16	0.60381	M	-0.16	0.65378	T	-2.18	0.49187	N	0.384	0.42541	-0.2858	0.75382	T	0.321	0.68978	T	10	0.010879695	0.00240	T	0.020085	0.42610	T	0.212	0.50341	.	.	0.797518591576	0.79563	0.46475050342082136	0.46394	0.128338442843	0.14471	0.413469702005	0.26937	T	0.280539	0.65325	T	-0.36724	0.03736	T	-0.299888	0.44737	T	0.0437467894579807	0.04373	T	0.868613	0.57103	D	0.39564815	0.60430	0.26199952	0.51986	0.39564815	0.60430	0.26199952	0.51985	-5.205	0.38992	T	0.2435615757690651	0.32990	0.088	0.11797	B	.	.	3.590341	0.50659	23.0	0.99600398610670704	0.74160	0.88561	0.48546	D	ALL	0.594108	0.58917	D	0.499032837352912	0.67035	5.02807	0.448696786484109	0.64631	4.722992	0.999991887337928	0.74766	0.716459	0.82106	0	0.697927	0.68747	0	0.73237	0.93354	0	0.636	0.56748	0	.	.	5.53	5.53	0.82530	2.101000	0.41411	0.912000	0.22635	0.665000	0.62972	1.000000	0.71638	0.770000	0.26692	0.787000	0.37188	0.0:0.0:0.0:1.0	13.617	0.61579	152	0.94023	DHHA1 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	0.005035	0.005051	0.002717	0.014620	0.000000	0.017241	0.003049	0.000000	0.02632	2108.33	35	chr16	70253980	.	T	C	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=804;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.843;SOR=0.862	GT:AD:DP:GQ:PL	0/1:81,79:160:99:2122,0,2032	18	0	1	0
chr16	71572195	71572195	T	C	exonic	TAT	.	nonsynonymous SNV	TAT:NM_000353:exon6:c.A697G:p.I233V	Tyrosinemia, type II, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.0430691513699	0.0002	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs149946824	2.736e-05	2.805e-05	3.675e-05	1.788e-05	3.507e-05	2.062e-05	1.816e-05	2.625e-05	2.305e-05	0	0	0	0	0	0	3.507e-05	1.656e-05	0	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	0.075	0.34444	T	0.099	0.38891	T	0.836	0.46303	P	0.38	0.43842	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.73	0.44655	L	-2.88	0.91533	D	-0.84	0.22944	N	0.468	0.50418	0.393	0.88988	D	0.675	0.88751	D	10	0.46220592	0.59353	T	0.043069	0.60791	D	0.504	0.78600	.	.	0.886502306561	0.88538	0.6288299002649355	0.62815	0.233867804438	0.25922	0.64517390728	0.59300	T	0.359	0.72547	T	0.0489189	0.58204	T	-0.103862	0.63096	T	0.675220847129822	0.39571	D	0.882912	0.60466	D	0.44464856	0.63701	0.24623361	0.50128	0.44464856	0.63702	0.24623361	0.50127	-4.181	0.26476	T	0.2435016261340809	0.32982	0.112	0.21840	B	.	.	3.404223	0.47195	22.4	0.99638460543343732	0.76510	0.91862	0.54424	D	AEFGBCI	0.819696	0.74066	D	0.45392759637799	0.64426	4.696923	0.544508481828418	0.71018	5.591084	0.999999995009299	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	6.17	6.17	0.99707	5.065000	0.64175	6.190000	0.54754	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1256:0.0:0.0:0.8744	12.432	0.54915	179	0.93046	Aminotransferase, class I/classII	.	.	.	.	.	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	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	957.33	37	chr16	71572195	.	T	C	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=1.54;SOR=0.578	GT:AD:DP:GQ:PL	0/1:22,34:56:99:971,0,536	18	0	1	0
chr16	72957816	72957816	A	0	exonic	ZFHX3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	75898.5	208	chr16	72957816	.	A	*	75898.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.633;DP=3216;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=25.15;ReadPosRankSum=-0.641;SOR=0.735	GT:AD:DP:GQ:PL	0/1:0,68:135:99:5527,2036,2523	18	0	1	0
chr16	76521280	76521280	A	T	exonic	CNTNAP4	.	nonsynonymous SNV	CNTNAP4:NM_001322178:exon15:c.A2356T:p.I786F,CNTNAP4:NM_001322180:exon15:c.A2119T:p.I707F,CNTNAP4:NM_001322190:exon15:c.A2362T:p.I788F,CNTNAP4:NM_001322191:exon15:c.A1579T:p.I527F,CNTNAP4:NM_138994:exon15:c.A2287T:p.I763F,CNTNAP4:NM_001322179:exon16:c.A2506T:p.I836F,CNTNAP4:NM_001322181:exon16:c.A2503T:p.I835F,CNTNAP4:NM_001322188:exon16:c.A2506T:p.I836F,CNTNAP4:NM_033401:exon16:c.A2506T:p.I836F,CNTNAP4:NM_001322187:exon17:c.A1090T:p.I364F,CNTNAP4:NM_001322189:exon17:c.A2242T:p.I748F	.	428	1066	24	4	0	32	0.0147874	.	.	.	3220401	CNTNAP4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0085	0.00838658	0.0083	0.0014	0.0057	0	0.0030	0.0089	0.0067	0.0184	0.0078783	1218	154602	rs112577515	0.0098	0.0099	0.0095	0.0101	0.0179	0.0097	0.0096	0.0172	0.0169	0.0016	0.0047	0.0230	5.052e-05	0.0023	0.0085	0.0101	0.0095	0.0179	0.0072	0.0072	0.0076	0.0068	0.0222	0.0068	0.0067	0.0188	0.0175	0.0018	0.0055	0.0054	0.0268	0	0.0017	0.0034	0.0102	0.0085	0.0222	0.257	0.38185	T	0.045	0.49942	D	1.0	0.90584	D	0.999	0.92359	D	0.000792	0.41772	D	0.000000	0.999819	0.49394	D	.	.	.	0.98	0.42122	T	-2.8	0.59873	D	0.707	0.78641	-0.8898	0.48952	T	0.158	0.49043	T	9	0.007897258	0.00179	T	.	.	.	0.176	0.44373	.	.	0.511220899679	0.50763	0.3413844676447204	0.34051	0.198670388513	0.22245	0.700935721397	0.67278	T	0.235068	0.80064	T	-0.344023	0.05114	T	-0.252661	0.49554	T	0.0530948091124562	0.06035	T	0.927907	0.73561	D	0.19536777	0.41322	0.26874053	0.52746	0.19536777	0.41322	0.26874053	0.52745	-9.848	0.74449	D	.	.	0.222	0.50600	B	.;.;.;.;.;.	.;.;.;.;.;.	4.400139	0.67983	25.2	0.98875726085140536	0.47736	0.92171	0.55103	D	AEFI	0.397350	0.47346	N	0.353689395998628	0.58934	4.068933	0.386905460538145	0.60758	4.26694	0.00100741087992583	0.08115	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	4.861000	0.62666	10.795000	0.83776	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.844	0.69881	911	0.21964	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G 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	0.006042	0.000000	0.004076	0.011696	0.000000	0.000000	0.015244	0.000000	0.02632	1507.33	44	chr16	76521280	.	A	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.4;DP=895;ExcessHet=0;FS=2.205;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.14;SOR=0.898	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1521,0,1361	18	0	1	0
chr16	76539849	76539849	A	G	exonic	CNTNAP4	.	nonsynonymous SNV	CNTNAP4:NM_001322178:exon19:c.A3201G:p.I1067M,CNTNAP4:NM_001322179:exon19:c.A3111G:p.I1037M,CNTNAP4:NM_001322180:exon19:c.A2964G:p.I988M,CNTNAP4:NM_001322190:exon19:c.A3207G:p.I1069M,CNTNAP4:NM_001322191:exon19:c.A2424G:p.I808M,CNTNAP4:NM_138994:exon19:c.A3132G:p.I1044M,CNTNAP4:NM_001322181:exon20:c.A3348G:p.I1116M,CNTNAP4:NM_001322188:exon20:c.A3351G:p.I1117M,CNTNAP4:NM_033401:exon20:c.A3351G:p.I1117M,CNTNAP4:NM_001322187:exon21:c.A1935G:p.I645M,CNTNAP4:NM_001322189:exon21:c.A3087G:p.I1029M	.	427	1089	4	2	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	.	.	0.00539137	0.0025	0.0001	0.0023	0	0	0.0003	0.0033	0.0157	0.002238	346	154602	rs143225992	0.0011	0.0011	0.0007	0.0015	0.0151	0.0010	0.0010	0.0144	0.0141	6.332e-05	0.0011	0.0002	5.174e-05	0	0.0037	0.0001	0.0013	0.0151	0.0008	0.0008	0.0006	0.0011	0.0187	0.0007	0.0007	0.0156	0.0144	0	0	0.0008	0.0003	0	0	0	0.0003	0.0009	0.0187	0.013	0.53900	D	0.009	0.66756	D	0.002	0.19075	B	0.026	0.33616	B	0.048914	0.23209	N	0.211758	0.941438	0.27599	N	.	.	.	-1.37	0.80214	T	-1.79	0.42191	N	0.374	0.47487	-0.8214	0.53846	T	0.315	0.68486	T	9	0.008007467	0.00182	T	.	.	.	0.409	0.72099	.	.	0.414670632993	0.41079	0.32376409854409044	0.32289	0.0220140850066	0.02206	0.24808254838	0.03569	T	0.181978	0.66402	T	-0.331548	0.05995	T	-0.236049	0.51183	T	0.0254609289967372	0.01334	T	0.485551	0.14815	T	0.04306325	0.06646	0.0796648	0.17955	0.04306325	0.06646	0.0796648	0.17954	-6.888	0.53365	T	.	.	0.071	0.11124	B	.;.;.;.;.;.	.;.;.;.;.;.	0.890174	0.12639	9.162	0.91761971397726871	0.21063	0.18573	0.20316	N	AEFI	0.059070	0.11130	N	-1.10275083822039	0.06594	0.3039878	-1.19409470376828	0.06008	0.2879111	0.295668849582938	0.19135	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.89	-9.78	0.00413	-0.061000	0.11650	-0.657000	0.07999	-0.054000	0.16847	0.805000	0.29786	0.000000	0.08366	0.984000	0.60418	0.1999:0.4405:0.3596:0.0	10.919	0.46365	896	0.25515	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G 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	0.003528	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	971.33	34	chr16	76539849	.	A	G	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.383;DP=737;ExcessHet=0;FS=3.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.194;SOR=0.411	GT:AD:DP:GQ:PL	0/1:64,40:104:99:985,0,1822	18	0	1	0
chr16	77431352	77431352	C	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_199355:exon3:c.G438C:p.Q146H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	0	1511	8	3	0	14	0.00461133	.	.	.	726800	not_provided|ADAMTS18-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0115497590187	0.0005	0.000798722	0.0011	0.0003	0.0009	0	0.0002	0.0017	0	0.0005	0.0011319	175	154602	rs151326659	0.0013	0.0013	0.0014	0.0013	0.0029	0.0013	0.0013	0.0019	0.0015	0.0003	0.0007	0.0042	0	0	0.0029	0.0015	0.0017	0.0006	0.0011	0.0011	0.0011	0.0011	0.0016	0.0010	0.0009	0.0014	0.0013	0.0003	0	0.0012	0.0037	0	0.0003	0.0170	0.0016	0.0024	0.0008	0.174	0.22486	T	0.28	0.21678	T	0.197	0.29559	B	0.302	0.41118	B	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	1.39	0.34934	L	3.38	0.05778	T	-1.96	0.45404	N	0.785	0.78167	-0.9722	0.36734	T	0.022	0.09330	T	10	0.033701003	0.01553	T	0.01155	0.29287	T	0.206	0.49396	0.7	0.83684	0.366085729538	0.36220	0.7301263247287595	0.72957	.	.	0.525219380856	0.42362	T	0.013767	0.11844	T	-0.3013	0.08537	T	-0.224588	0.52295	T	0.0287866072438054	0.01804	T	0.829517	0.49484	T	0.46524575	0.64997	0.34740004	0.60394	0.46524575	0.64998	0.34740004	0.60394	-2.818	0.08350	T	.	.	0.308	0.53633	B	.	.	3.719934	0.53157	23.3	0.99545047882362958	0.70773	0.79266	0.39246	D	AEFDBHCI	0.714883	0.66722	D	0.143320345137353	0.48496	3.06117	0.320317106865729	0.56736	3.837303	0.999999998065019	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.657636	0.52715	0	0.71	0.69187	0	.	.	6.03	6.03	0.97798	2.267000	0.42986	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9262:0.0:0.0738	12.800	0.56959	878	0.29785	Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	805.33	34	chr16	77431352	.	C	G	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.234;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.879;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,36:82:99:819,0,1204	18	0	1	0
chr16	79599341	79599341	-	GTG	exonic	MAF	.	nonframeshift insertion	MAF:NM_001031804:exon1:c.561_562insCAC:p.H187_A188insH,MAF:NM_005360:exon1:c.561_562insCAC:p.H187_A188insH	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1029898670	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0015	0.0013	0	0	0	0.0003	0	0.0006	9.257e-05	0.0002	0.0020	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0.0001	0	0.0002	0	0.0006	0	0	0.0001	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	290.56	5	chr16	79599341	.	C	CGTG	290.56	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.277;DP=133;ExcessHet=0.1336;FS=0;InbreedingCoeff=-0.0952;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.28;SOR=0.818	GT:AD:DP:GQ:PL	0/1:8,7:15:99:270,0,315	16	0	1	2
chr16	81188921	81188921	C	T	exonic	PKD1L2	.	stopgain	PKD1L2:NM_001076780:exon10:c.G1749A:p.W583X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	.	0.00159744	5.796e-05	0.0006	0	0	0	0	0	6.056e-05	9.7e-05	15	154602	rs140892016	3.078e-05	3.078e-05	2.45e-05	3.713e-05	0.0009	2.347e-05	2.095e-05	0.0007	0.0006	0.0009	0	0	0	0	0.0003	2.698e-06	8.28e-05	4.637e-05	9.2e-05	9.188e-05	7.714e-05	0.0001	0.0003	5.528e-05	4.365e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.138629	0.18371	N	0.558894	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36534	0.87653	D	0.61701	0.97470	D	0.46539318561554	0.31362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.299122	0.97400	37	0.99506600209770868	0.68381	0.95265	0.64053	D	AEFDBI	0.049871	0.08659	N	0.684123846326335	0.78592	6.90281	0.514057864981755	0.68935	5.289221	0.999997789733686	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	4.791000	0.62154	4.412000	0.43285	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:1.0:0.0:0.0	18.323	0.90185	946	0.12043	.	.	.	.	.	.	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	1017.33	52	chr16	81188921	.	C	T	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.587;DP=837;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-2.391;SOR=0.801	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1031,0,1278	18	0	1	0
chr16	88810425	88810425	-	C	exonic	APRT	.	frameshift insertion	APRT:NM_000485:exon3:c.318dupG:p.K107Efs*3,APRT:NM_001030018:exon3:c.318dupG:p.K107Efs*3	Adenine phosphoribosyltransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1006.29	38	chr16	88810425	.	T	TC	1006.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.286;DP=785;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.757;SOR=0.545	GT:AD:DP:GQ:PL	0/1:57,39:96:99:1020,0,1665	18	0	1	0
chr16	89919422	89919422	A	C	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.A164C:p.E55A	.	.	.	.	.	.	.	.	.	.	.	3694671	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.418	0.104910429236	.	.	3.343e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs747948460	1.232e-05	1.231e-05	1.09e-05	1.376e-05	0.0002	7.7e-06	6.35e-06	0.0001	9.45e-05	0	0	0	0	0	0	0	3.313e-05	0.0002	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	0.0	0.91255	D	0.007	0.92824	D	0.994	0.66517	D	0.96	0.70309	D	0.001840	0.37892	U	0.000000	0.999989	0.54805	D	3.18	0.88827	M	1.28	0.35960	T	-5.34	0.84674	D	0.751	0.75009	-0.6419	0.63065	T	0.225	0.58894	T	9	0.6704327	0.70680	D	0.10491	0.77974	D	0.418	0.72780	0.714	0.84962	0.879581146893	0.87840	0.6146647801083908	0.61398	0.122529542161	0.13806	.	.	.	0.462705	0.79895	T	-0.0188034	0.49023	T	-0.0281177	0.68494	D	0.960900247097015	0.65930	D	0.954005	0.82493	D	0.76643884	0.81835	0.730582	0.84080	0.76643884	0.81836	0.730582	0.84081	-5.231	0.39255	T	0.4813667106009674	0.55997	0.374	0.65051	A	.;.;.;.	.;.;.;.	4.246715	0.64428	24.7	0.99661195552188442	0.77947	0.96878	0.71431	D	AEFDBCI	0.928828	0.91364	D	0.580322712755851	0.71948	5.729134	0.501727721271764	0.68107	5.174608	0.999999999999958	0.74766	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.567892	0.33627	0	.	.	4.86	4.86	0.62624	6.136000	0.71452	6.874000	0.56796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.740000	0.35438	1.0:0.0:0.0:0.0	13.634	0.61682	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2098.33	34	chr16	89919422	.	A	C	2098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.161;DP=820;ExcessHet=0;FS=2.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=1.79;SOR=0.517	GT:AD:DP:GQ:PL	0/1:85,87:172:99:2112,0,2359	18	0	1	0
chr17	2057111	2057113	GGC	-	exonic	HIC1	.	nonframeshift deletion	HIC1:NM_001098202:exon2:c.478_480del:p.G167del,HIC1:NM_006497:exon2:c.421_423del:p.G148del	.	0	205	21	0	0	21	0.0487239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0021	0	0	0	0	0.0026	0.05	0.0011	0.0002305	6	26028	rs769002012	0.0008	0.0062	0.0006	0.0010	0.0042	0.0008	0.0008	0.0037	0.0035	0.0005	0.0017	0.0013	0.0005	0.0020	0.0008	0.0006	0.0010	0.0042	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.412e-05	0	0.0003	0	0.0002	9.612e-05	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103576	0.115385	0.120370	0.074468	0.100000	0.097561	0.084615	0.137168	0.05263	155.79	36	chr17	2057110	.	GGGC	G	155.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.641;DP=666;ExcessHet=0.119;FS=1.976;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.641;SOR=0.293	GT:AD:DP:GQ:PL	0/1:13,4:17:99:129,0,533	17	0	2	0
chr17	2058059	2058059	G	A	exonic	HIC1	.	nonsynonymous SNV	HIC1:NM_001098202:exon2:c.G1426A:p.A476T,HIC1:NM_006497:exon2:c.G1369A:p.A457T	.	.	.	.	.	.	.	.	.	.	.	715293	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.0494896969922	.	0.000199681	0.0024	0.0011	0.0006	0	0.0021	0.0043	0	0	0.0013325	206	154602	rs201599490	0.0047	0.0047	0.0049	0.0046	0.0059	0.0046	0.0046	0.0057	0.0057	0.0006	0.0008	0.0002	0	0.0004	0	0.0059	0.0043	4.781e-05	0.0026	0.0026	0.0029	0.0022	0.0046	0.0024	0.0023	0.0042	0.0040	0.0009	0	0.0019	0.0006	0	0.0003	0	0.0046	0.0024	0	0.154	0.28026	T	0.408	0.14633	T	0.989	0.62824	D	0.698	0.54098	P	0.000000	0.00162	N	2732.760000	0.853602	0.29552	N	0	0.06538	N	3.22	0.07353	T	-0.99	0.26200	N	0.16	0.16725	-0.9863	0.33518	T	0.026	0.11087	T	10	0.006996691	0.00159	T	0.04949	0.63837	D	0.082	0.23913	.	.	0.185906805712	0.18197	0.2552447191319026	0.25438	.	.	0.872076749802	0.92864	D	0.13563	0.46756	T	-0.578515	0.00197	T	-0.603506	0.12517	T	0.0354338972860645	0.02882	T	0.723828	0.33737	T	0.08946231	0.20904	0.112119295	0.27051	0.08946231	0.20903	0.112119295	0.27050	-7.884	0.60524	D	.	.	0.110	0.26576	B	.;.;.	.;.;.	2.653130	0.34548	19.66	0.99429858625653877	0.64227	0.78960	0.39040	D	AEFDGBHCI	0.361146	0.45087	N	0.00353070962510769	0.42014	2.523681	-0.0188158691051355	0.38866	2.295995	0.999999999999995	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.606814	0.37721	0	0.508809	0.08732	0	.	.	3.52	3.52	0.39415	2.935000	0.48657	8.435000	0.77180	0.652000	0.53365	0.237000	0.24716	1.000000	0.68203	0.373000	0.26178	0.0:0.0:1.0:0.0	10.747	0.45383	326	0.86709	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001020	0.005376	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1385.33	42	chr17	2058059	.	G	A	1385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.529;DP=811;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-1.86;SOR=0.54	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1399,0,983	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	0|1:23,33:56:99:0|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:1159,0,718:4933876	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|0:3,32:56:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3199,720,716:4933876	1	11	5	2
chr17	5001261	5001261	C	T	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon5:c.C223T:p.R75W	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	646171	Inborn_genetic_diseases|Spastic_ataxia_2	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.547	0.151006751429	.	0.000199681	1.65e-05	9.647e-05	0	0	0	0	0	6.058e-05	1.94e-05	3	154602	rs201085674	1.095e-05	1.094e-05	9.529e-06	1.238e-05	1.259e-05	6.48e-06	5.24e-06	7.31e-06	5.72e-06	0	0	3.827e-05	0	0	0	1.259e-05	0	1.159e-05	1.97e-05	1.968e-05	2.57e-05	1.343e-05	4.815e-05	5.24e-06	2.45e-06	7.98e-06	2.99e-06	4.815e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.01	0.67890	D	0.998	0.73220	D	0.672	0.53180	P	.	.	.	.	0.933616	0.37060	D	2.565	0.75005	M	-2.41	0.88533	D	-5.38	0.84954	D	0.545	0.57177	0.508	0.90661	D	0.684	0.89080	D	9	0.5538803	0.64408	D	0.151007	0.83262	D	0.547	0.81193	.	.	0.947066071505	0.94651	0.4749041625513078	0.47409	0.378668096753	0.39273	0.423223912716	0.28280	T	0.830417	0.95945	D	-0.010146	0.50246	T	-0.0708226	0.65567	T	0.935056209564209	0.60298	D	0.984801	0.94749	D	0.35525903	0.57473	0.510128	0.71691	0.35525903	0.57473	0.510128	0.71691	-11.17	0.80582	D	0.4532066397830837	0.53666	0.122	0.40586	B	.;.	.;.	4.123492	0.61646	24.4	0.99857373873109456	0.93639	0.55444	0.29865	D	AEFDBI	0.776298	0.70945	D	0.216114074177291	0.51981	3.375229	0.1389953969652	0.46563	2.900176	0.999544427566184	0.40300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.83	3.85	0.43556	0.944000	0.28641	4.827000	0.45167	0.599000	0.40250	0.011000	0.18532	0.999000	0.35428	0.993000	0.69303	0.3536:0.6464:0.0:0.0	10.462	0.43772	569	0.70546	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	1220.33	34	chr17	5001261	.	C	T	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.561;DP=776;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-1.197;SOR=0.581	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1234,0,1653	18	0	1	0
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q,ACADVL:NM_001270448:exon19:c.G1616A:p.R539Q,ACADVL:NM_000018:exon20:c.G1844A:p.R615Q,ACADVL:NM_001270447:exon21:c.G1913A:p.R638Q	VLCAD deficiency, Autosomal recessive	0	1484	36	2	0	40	0.0132979	.	.	YES	192609	Very_long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided|ACADVL-related_disorder|not_specified	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793|MedGen:C3661900|.|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014099	0.000000	0.010870	0.023392	0.000000	0.043103	0.015244	0.011364	0.02632	902.33	40	chr17	7224973	.	G	A	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.854;DP=754;ExcessHet=0;FS=2.068;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.309;SOR=0.43	GT:AD:DP:GQ:PL	0/1:30,38:68:99:916,0,762	18	0	1	0
chr17	10460243	10460243	A	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon13:c.T1226A:p.V409D	.	2	1503	17	0	0	17	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.913	0.100397731126	.	0.000998403	0.0007	0	0.0003	0.0001	0	0.0002	0	0.0039	0.0006468	100	154602	rs142060534	0.0004	0.0004	0.0002	0.0005	0.0052	0.0003	0.0003	0.0037	0.0033	2.987e-05	0.0005	0	5.038e-05	0	0.0052	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0056	0.0002	0.0002	0.0040	0.0034	4.812e-05	0	0.0001	0	0	0	0.0034	0.0002	0	0.0056	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.004526	0.33648	U	0.000000	1	0.81001	D	3.22	0.89398	M	-2.37	0.88220	D	-5.81	0.88224	D	0.905	0.90590	1.052	0.98161	D	0.894	0.96478	D	10	0.12687308	0.24123	T	0.100398	0.77265	D	0.913	0.97700	0.86	0.95774	0.988864112231	0.98873	0.7519259962234865	0.75139	0.89452390681	0.70386	0.81251937151	0.83878	D	0.842181	0.96329	D	0.134241	0.67772	D	0.417946	0.92677	D	0.143717803468275	0.16591	T	0.980002	0.93225	D	0.7806963	0.82696	0.8324899	0.90347	0.7806963	0.82698	0.8324899	0.90348	-15.54	0.96988	D	.	.	0.999	0.98051	P	.	.	4.819828	0.78497	26.9	0.98655102163559216	0.44247	0.96378	0.68846	D	ALL	0.922753	0.89818	D	1.03534693194306	0.96731	15.06908	0.930012989068574	0.96754	15.09935	0.999999999396776	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	9.265000	0.94799	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	16.012	0.80209	105	0.95676	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor 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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2300.33	35	chr17	10460243	.	A	T	2300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=889;ExcessHet=0;FS=2.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.208;SOR=0.496	GT:AD:DP:GQ:PL	0/1:85,84:169:99:2314,0,2202	18	0	1	0
chr17	16062252	16062252	C	T	exonic	NCOR1	.	nonsynonymous SNV	NCOR1:NM_001190440:exon35:c.G5288A:p.R1763Q,NCOR1:NM_006311:exon36:c.G5240A:p.R1747Q	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0287367692879	.	0.000199681	0.0001	0.0003	0	0.0001	0	0	0	0.0006	9.06e-05	14	154602	rs554764533	9.955e-05	0.0001	7.65e-05	0.0001	0.0007	8.609e-05	8.077e-05	0.0005	0.0005	0.0002	0	3.858e-05	0	0	0.0007	6.392e-05	9.968e-05	0.0007	9.201e-05	9.188e-05	0.0001	6.721e-05	0.0010	5.529e-05	4.365e-05	0.0004	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0010	0.002	0.72154	D	0.057	0.53426	T	0.999	0.77913	D	0.978	0.78936	D	0.000005	0.62929	D	0.102905	0.999994	0.58761	D	1.04	0.26193	L	0.86	0.46777	T	-3.46	0.67705	D	0.749	0.89577	-0.5235	0.67785	T	0.298	0.66933	T	10	0.27328068	0.44876	T	0.028737	0.51367	D	0.272	0.58758	0.165	0.06955	0.609852891598	0.60671	0.6108040292834989	0.61012	1.03009341363	0.75405	0.628771543503	0.56970	T	0.831086	0.95967	D	-0.174371	0.24576	T	-0.130764	0.60906	T	0.262156250738762	0.23409	T	0.986901	0.96679	D	0.57007927	0.71065	0.4997324	0.71077	0.57007927	0.71066	0.4997324	0.71077	-5.989	0.46188	T	.	.	0.380	0.58405	A	.;.;.	.;.;.	5.324523	0.89363	30	0.99949373114376738	0.99931	0.99188	0.92529	D	AEFBI	0.843652	0.76067	D	0.778292265059524	0.84732	8.370257	0.755740138471598	0.86584	8.936701	0.999999812920953	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.74	5.74	0.90070	7.303000	0.78192	7.693000	0.65888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.913	0.92466	232	0.90957	.;.;.	.	.	.	.	.	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	1043.33	33	chr17	16062252	.	C	T	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=723;ExcessHet=0;FS=1.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.08;SOR=0.997	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1057,0,999	18	0	1	0
chr17	17797474	17797474	A	G	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.A4526G:p.Q1509R	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	0	1506	16	0	0	16	0.00528402	.	.	.	429945	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0244663426337	0.0007	0.000998403	0.0012	0.0001	0.0003	0	0	0.0015	0	0.0025	0.0010867	168	154602	rs140063274	0.0012	0.0012	0.0012	0.0013	0.0024	0.0012	0.0012	0.0020	0.0019	0.0001	0.0002	0.0043	0	0.0001	0.0024	0.0013	0.0009	0.0023	0.0008	0.0008	0.0008	0.0009	0.0037	0.0007	0.0007	0.0024	0.0020	0.0002	0	0.0002	0.0069	0	9.42e-05	0	0.0010	0.0019	0.0037	0.022	0.48642	D	0.087	0.40747	T	0.118	0.26577	B	0.026	0.20792	B	0.050578	0.23058	N	0.424109	0.946957	0.26615	N	0.975	0.24501	L	-0.21	0.66294	T	-0.57	0.17210	N	0.282	0.31925	-0.9608	0.39031	T	0.169	0.50858	T	10	0.0055812895	0.00123	T	0.024466	0.47458	T	0.057	0.16321	.	.	0.34333109794	0.33943	0.16386998072303055	0.16306	0.321696457852	0.34367	0.390619277954	0.23757	T	0.086222	0.37676	T	-0.505164	0.00535	T	-0.504267	0.21906	T	0.0292594626311706	0.01877	T	0.688231	0.29741	T	0.0879544	0.20501	0.09119919	0.21427	0.0784166	0.17857	0.09802022	0.23354	-3.254	0.13151	T	0.2164180584294973	0.29112	0.095	0.18372	B	.;.	.;.	1.700043	0.21653	15.29	0.99300867031191586	0.58613	0.97713	0.76598	D	AEFDBI	0.250235	0.37032	N	-0.278799195618333	0.29967	1.666701	-0.128532175059772	0.34245	1.967708	0.940066500446574	0.27415	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.03	5.03	0.67015	0.536000	0.22838	9.069000	0.78685	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.395000	0.26670	1.0:0.0:0.0:0.0	14.570	0.67800	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	0.003021	0.005051	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.02632	2456.33	89	chr17	17797474	.	A	G	2456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.278;DP=1042;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-2.291;SOR=0.678	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2470,0,2815	18	0	1	0
chr17	19556021	19556021	G	A	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon10:c.G880A:p.A294T	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.00982123049051	.	0.000399361	0.0004	0	0.0003	0.0001	0	5.996e-05	0	0.0025	0.0003363	52	154602	rs563267554	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	5.974e-05	0.0002	0	2.519e-05	0	0.0021	3.417e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0002	0	0	0	0	8.821e-05	0.0005	0.0033	0.043	0.72154	D	0.005	0.79402	D	0.998	0.73220	D	0.899	0.65913	P	0.000000	0.84330	D	0.047729	0.999757	0.81001	D	2.325	0.66631	M	0.69	0.51714	T	-3.71	0.71397	D	0.799	0.79503	-0.4206	0.71373	T	0.309	0.67922	T	10	0.03247279	0.01400	T	0.009821	0.25608	T	0.391	0.70684	.	.	0.503744809241	0.50012	0.34828586287911073	0.34742	0.676230404005	0.59750	0.470068246126	0.34689	T	0.042113	0.72332	T	-0.0938739	0.37437	T	0.0871427	0.76054	D	0.116827600588266	0.14117	T	0.915108	0.70943	D	0.64562225	0.75130	0.73879474	0.84561	0.64562225	0.75131	0.73879474	0.84562	-8.561	0.64832	D	.	.	0.225	0.45726	B	.;.;.;.	.;.;.;.	4.651044	0.74135	26.1	0.99935201548179953	0.99579	0.96624	0.70078	D	AEFBI	0.838485	0.75600	D	0.732492398779477	0.81761	7.598788	0.722333312599581	0.84074	8.191972	0.999706608641801	0.41986	0.638212	0.43195	0	0.610034	0.51514	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.54	5.54	0.82907	4.255000	0.58595	6.320000	0.55443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	18.482	0.90766	617	0.66297	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.015152	0.02632	1120.33	34	chr17	19556021	.	G	A	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.172;DP=727;ExcessHet=0;FS=1.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-0.403;SOR=0.547	GT:AD:DP:GQ:PL	0/1:21,39:60:99:1134,0,615	18	0	1	0
chr17	20450108	20450108	C	G	exonic	LGALS9B	.	nonsynonymous SNV	LGALS9B:NM_001042685:exon11:c.G933C:p.L311F,LGALS9B:NM_001367292:exon11:c.G936C:p.L312F	.	584	920	11	7	0	25	0.0134048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	.	.	0.0086	0	0.0057	0	0	0.0093	0.0122	0.0234	0.0006147	16	26028	rs200390718	0.0065	0.0096	0.0063	0.0068	0.0189	0.0064	0.0063	0.0149	0.0134	0.0026	0.0071	0.0384	0.0007	0.0016	0.0189	0.0056	0.0092	0.0113	0.0034	0.0040	0.0034	0.0034	0.0095	0.0031	0.0030	0.0071	0.0063	0.0006	0	0.0018	0.0469	0	0.0001	0.0227	0.0034	0.0059	0.0095	.	.	.	0.247	0.23914	T	0.946	0.53363	P	0.538	0.48781	P	0.543193	0.05326	N	1.239310	0.999748	0.20516	N	2.125	0.59049	M	2.62	0.12988	T	.	.	.	0.112	0.10626	-1.0102	0.26854	T	0.096	0.36159	T	9	0.004126996	0.00081	T	.	.	.	0.106	0.30130	0.644	0.78117	0.0138822411134	0.00435	0.23683732164066013	0.23598	.	.	0.381931364536	0.22531	T	0.007107	0.06527	T	-0.309523	0.07790	T	-0.682385	0.06839	T	0.00844175138586903	0.00102	T	0.839416	0.51368	T	0.081202045	0.18646	0.07373707	0.16057	0.081202045	0.18645	0.07373707	0.16056	-9.659	0.72948	D	.	.	0.179	0.39012	B	.;.	.;.	1.387174	0.17995	13.49	0.99295684956269614	0.58433	0.00660	0.02859	N	AEFGI	0.027037	0.02138	N	-0.754922060876896	0.14500	0.7228018	-0.898988418607878	0.12117	0.6214781	4.73456065613091E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	1.91	0.379	0.15440	-0.402000	0.07284	-1.313000	0.05742	0.272000	0.18543	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.0:0.4423:0.0:0.5577	4.360	0.10632	814	0.42100	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008475	0.024390	0.007508	0.000000	0.000000	0.009259	0.018182	0.000000	0.05263	471.22	23	chr17	20450108	.	C	G	471.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.086;DP=360;ExcessHet=0.119;FS=1.422;InbreedingCoeff=-0.0675;MLEAC=2;MLEAF=0.053;MQ=28.9;MQRankSum=-0.119;QD=11.78;ReadPosRankSum=1.03;SOR=1.085	GT:AD:DP:GQ:PL	0/1:8,11:19:99:292,0,217	17	0	2	0
chr17	22524065	22524065	G	A	exonic	MTRNR2L1	.	nonsynonymous SNV	MTRNR2L1:NM_001190452:exon1:c.G4A:p.A2T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0348602224308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.223e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.06245	T	.	.	.	.	.	.	.	.	.	.	0.639805	0.30626	N	.	.	.	.	.	.	0.85	0.01736	N	0.311	0.35088	-0.4458	0.70539	T	0.250	0.61935	T	5	0.24432483	0.41662	T	0.03486	0.55958	D	0.158	0.41098	.	.	0.0666544352282	0.05500	0.008722710939404061	0.00836	.	.	.	.	.	0.030388	0.21555	T	-0.0592103	0.43031	T	-0.322828	0.42265	T	0.457064428660477	0.31058	T	0.364364	0.08448	T	0.1597171	0.35862	0.43088055	0.66724	0.1597171	0.35862	0.43088055	0.66724	-3.423	0.15367	T	.	.	0.070	0.03515	B	.	.	1.172037	0.15621	11.98	0.85358821160681009	0.15843	0.94696	0.62016	D	AEFDJ	0.827690	0.74693	D	0.2193237866639	0.52138	3.38978	0.188992934616257	0.49243	3.129842	0.999650351644188	0.41424	0.538911	0.22237	0	0.0	0.00010	3	0.607057	0.38367	0	0.836244	0.99985	0	.	.	3.13	3.13	0.35090	9.075000	0.93411	.	.	0.469000	0.21855	1.000000	0.71638	0.527000	0.25341	0.026000	0.12556	0.0:0.0:1.0:0.0	15.086	0.71818	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	39.15	.	chr17	22524065	.	G	A	39.15	.	AC=2;AF=0.1;AN=20;DP=18;ExcessHet=0;FS=0;InbreedingCoeff=0.2463;MLEAC=2;MLEAF=0.1;MQ=60;QD=19.58;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	9
chr17	36437916	36437916	G	C	exonic	TBC1D3F;TBC1D3K	.	stopgain	TBC1D3K:NM_001291464:exon2:c.C66G:p.Y22X,TBC1D3F:NM_032258:exon2:c.C66G:p.Y22X	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.437e-06	5.593e-06	5.43e-06	3.481e-06	1.301e-05	1.3e-06	9.5e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.598e-06	2.012e-05	1.301e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000342	0.45440	U	0.151772	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0364866	0.56582	T	-0.185366	0.56023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.216189	0.43802	21.8	0.98648937095394407	0.44164	0.01200	0.04279	N	AEFI	0.065076	0.12672	N	0.186313778786688	0.50543	3.24321	-0.138944210281906	0.33837	1.939796	7.69288211797132E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-0.166000	0.09943	-2.561000	0.03607	-0.318000	0.05900	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	784.33	34	chr17	36437916	.	G	C	784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.882;DP=1034;ExcessHet=0;FS=2.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.87;MQRankSum=-1.526;QD=2.42;ReadPosRankSum=0.59;SOR=0.881	GT:AD:DP:GQ:PL	0/1:260,64:324:99:798,0,6114	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	0/1:32,28:60:99:354,0,381	1	0	18	0
chr17	40822489	40822489	A	T	exonic	KRT10	.	nonsynonymous SNV	KRT10:NM_000421:exon1:c.T97A:p.S33T,KRT10:NM_001379366:exon1:c.T97A:p.S33T	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1885821	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0148199778	7.7e-05	.	8.336e-05	0	0	0	0	0.0001	0	6.075e-05	6.47e-05	10	154602	rs141187850	7.116e-05	7.114e-05	6.263e-05	7.978e-05	0.0005	5.982e-05	5.59e-05	0.0002	0.0001	2.988e-05	0	0.0017	0	0	0.0005	2.158e-05	0.0002	0.0002	5.268e-05	5.256e-05	5.148e-05	5.393e-05	0.0001	2.562e-05	1.834e-05	2.265e-05	9.09e-06	0	0	0.0001	0.0006	0	0	0	4.413e-05	0.0005	0	0.187	0.21385	T	0.067	0.44302	T	0.546	0.38028	P	0.115	0.31843	B	0.245577	0.15618	N	0.478549	0.999969	0.52935	D	2.62	0.76659	M	-1.72	0.83241	D	-0.61	0.18042	N	0.178	0.19190	-0.7479	0.58045	T	0.270	0.64109	T	10	0.041095465	0.02735	T	0.01482	0.35183	T	0.212	0.50341	.	.	0.713321816834	0.71081	0.36363569135949936	0.36277	0.380450103368	0.39413	0.460277348757	0.33348	T	0.26935	0.64154	T	-0.234477	0.16062	T	-0.295152	0.45234	T	0.0646153207645467	0.07873	T	0.166083	0.01539	T	0.09027585	0.21120	0.12437895	0.29981	0.09027585	0.21119	0.12437895	0.29980	-5.256	0.39506	T	.	.	0.120	0.24733	B	.	.	1.604004	0.20502	14.78	0.95481202400395038	0.27044	0.33419	0.24823	N	AEFDGBHCI	0.117031	0.22943	N	-0.552681176853567	0.20400	1.075094	-0.491318131902917	0.22392	1.215979	0.999999995863019	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.425852	0.06454	2	0.564101	0.26826	0	.	.	5.52	3.15	0.35301	-0.522000	0.06323	1.626000	0.27713	0.731000	0.85647	0.000000	0.06391	0.807000	0.27003	0.394000	0.26647	0.5022:0.4978:0.0:0.0	12.838	0.57171	79	0.96716	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1863.33	43	chr17	40822489	.	A	T	1863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=960;ExcessHet=0;FS=9.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-1.212;SOR=0.772	GT:AD:DP:GQ:PL	0/1:95,77:172:99:1877,0,2540	18	0	1	0
chr17	40866168	40866168	C	A	exonic	KRT12	.	nonsynonymous SNV	KRT12:NM_000223:exon2:c.G637T:p.D213Y	Meesmann corneal dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3698357	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.795	0.088760197292	.	.	1.652e-05	0	0	0	0	1.502e-05	0	6.095e-05	1.29e-05	2	154602	rs765898284	1.847e-05	1.847e-05	1.225e-05	2.475e-05	0.0003	1.265e-05	1.084e-05	0.0001	8.646e-05	0	0	0	0	0	0.0003	7.195e-06	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000069	0.52346	D	0.000000	1	0.81001	D	4.31	0.98302	H	-2.61	0.89953	D	-8.33	0.97024	D	0.916	0.91852	1.055	0.98219	D	0.919	0.97314	D	10	0.9230248	0.91653	D	0.08876	0.75196	D	0.795	0.93266	0.748	0.87905	0.94934087018	0.94880	0.8756341733508284	0.87530	0.742486139256	0.63339	0.560935616493	0.47400	T	0.954954	0.99377	D	0.289645	0.82128	D	0.437958	0.93270	D	0.998221099376678	0.93561	D	0.986801	0.95481	D	0.96378773	0.97659	0.96705085	0.99331	0.96378773	0.97659	0.96705085	0.99331	-13.43	0.91056	D	0.8670017503858259	0.92880	0.749	0.86878	P	.;.;.	.;.;.	4.960732	0.82019	27.7	0.99379716429327591	0.61847	0.99577	0.97626	D	AEFBI	0.934136	0.92707	D	1.02656079185831	0.96504	14.77629	0.88846910911173	0.95050	13.26723	0.999999999980859	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.07	6.07	0.98675	7.687000	0.83428	4.840000	0.45276	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:1.0:0.0:0.0	20.659	0.99629	100	0.95872	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	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	965.33	33	chr17	40866168	.	C	A	965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.633;DP=724;ExcessHet=0;FS=6.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.469;SOR=0.792	GT:AD:DP:GQ:PL	0/1:51,48:99:99:979,0,1169	18	0	1	0
chr17	41029781	41029781	G	A	exonic	KRTAP1-4	.	nonsynonymous SNV	KRTAP1-4:NM_001257305:exon1:c.C298T:p.P100S	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0188920150003	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047495410	8.969e-06	1.026e-05	1.507e-05	2.779e-06	3.613e-05	5.01e-06	3.86e-06	9.6e-06	4.66e-06	0	0	0	0	0	0	9.041e-06	0	3.613e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.033	0.53072	D	.	.	.	.	.	.	0.001055	0.40475	N	0.000000	.	.	.	2.32	0.66415	M	0.68	0.51952	T	-7.53	0.95131	D	0.652	0.66272	-0.6076	0.64503	T	0.174	0.51690	T	6	0.7922061	0.78758	D	0.018892	0.41097	T	0.256	0.56694	0.613	0.74652	0.497806138765	0.49414	0.1825686080511031	0.18175	0.00501422503611	0.00445	0.375363707542	0.21598	T	0.038019	0.24688	T	-0.139498	0.29970	T	-0.251619	0.49656	T	0.976952195167542	0.71617	D	.	.	.	0.67505205	0.76704	0.51746947	0.72121	0.67505205	0.76705	0.51746947	0.72121	-6.165	0.47639	T	.	.	0.267	0.50129	B	.	.	3.009910	0.40247	21.1	0.99906087013415534	0.97651	0.66003	0.32929	D	AEFGBI	0.136750	0.25752	N	0.234590733703464	0.52880	3.459704	0.266428805527146	0.53589	3.527158	6.79831669565314E-5	0.04366	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.6	3.53	0.39533	2.158000	0.41955	3.378000	0.37982	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.553000	0.30245	0.0:0.0:0.7839:0.2161	9.206	0.36451	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1700.33	122	chr17	41029781	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.49;DP=1764;ExcessHet=0;FS=6.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.776;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,66:146:99:0|1:41029781_G_A:1714,0,2899:41029781	18	0	1	0
chr17	41105541	41105541	G	0	exonic	KRTAP4-9	.	.	.	.	418	1058	39	5	2	51	0.0226328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4186.43	101	chr17	41105541	.	G	*	4186.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.449;DP=2607;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=-0.624;QD=6.3;ReadPosRankSum=1.03;SOR=0.712	GT:AD:DP:GQ:PL	0/1:247,94:341:99:1824,0,9613	18	0	1	0
chr17	41582509	41582509	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon8:c.C1345T:p.R449C	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	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0292656441112	7.7e-05	.	3.692e-05	0.0003	0	0	0	0	0	0	3.23e-05	5	154602	rs139800658	2.47e-05	3.078e-05	3.211e-05	1.713e-05	6.228e-05	1.794e-05	1.588e-05	2.419e-05	1.521e-05	3.087e-05	2.649e-05	0	2.692e-05	0	0	2.296e-05	3.398e-05	6.228e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.059	0.37536	T	0.06	0.45744	T	0.444	0.35956	B	0.032	0.22131	B	0.024983	0.26166	N	0.275088	0.999921	0.51308	D	1.67	0.42885	L	-1.71	0.83157	D	-3.02	0.62630	D	0.598	0.61680	-0.4198	0.71399	T	0.365	0.72590	T	10	0.5287224	0.63060	D	0.029266	0.51808	D	0.560	0.81946	.	.	0.891549390675	0.89048	0.8884042326321021	0.88809	0.676926707721	0.59805	0.518182635307	0.41370	T	0.444475	0.78787	T	0.239942	0.77657	D	0.106883	0.77366	D	0.364598542451859	0.27588	T	0.619338	0.23774	T	0.21157563	0.43487	0.22426479	0.47332	0.21157563	0.43487	0.22426479	0.47331	-8.344	0.63391	D	.	.	0.265	0.49988	B	.	.	4.946492	0.81679	27.6	0.99809318269060443	0.89353	0.73234	0.35825	D	AEFDGBCIJ	0.497709	0.53212	N	0.181368825494323	0.50303	3.221752	0.296024138404424	0.55307	3.693872	0.999999502680884	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.38	4.39	0.52211	1.695000	0.37381	9.718000	0.81356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.088:0.0:0.7445:0.1675	7.543	0.26917	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	812.33	36	chr17	41582509	.	G	A	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.644;SOR=0.705	GT:AD:DP:GQ:PL	0/1:48,33:81:99:826,0,1237	18	0	1	0
chr17	50699860	50699862	TCA	-	exonic	ANKRD40	.	nonframeshift deletion	ANKRD40:NM_052855:exon3:c.315_317del:p.D106del	.	426	1080	14	0	2	16	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129	.	0.0009	0.0007	0.0015	0.0010	0.0002	0.0009	0	0.0013	0.0002689	7	26028	rs774926022	0.0002	0.0011	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	9.941e-05	0.0002	9.985e-05	0.0001	0.0002	0.0006	0.0001	0.0002	0.0006	9.207e-05	9.847e-05	0.0001	6.728e-05	0.0004	5.532e-05	4.368e-05	7.33e-05	3.051e-05	0.0001	0	0	0	0	0	0.0034	7.353e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	821.29	35	chr17	50699859	.	GTCA	G	821.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.349;DP=689;ExcessHet=0;FS=2.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=-1.08;SOR=1.27	GT:AD:DP:GQ:PL	0/1:16,22:38:99:835,0,605	18	0	1	0
chr17	58307725	58307725	C	G	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon23:c.G4689C:p.Q1563H,TSPOAP1:NM_001261835:exon24:c.G4869C:p.Q1623H,TSPOAP1:NM_004758:exon24:c.G4869C:p.Q1623H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00975110734013	0.0017	0.00279553	0.0010	0.0056	0.0032	0	0	0.0005	0.0022	0	0.0010155	157	154602	rs141226909	0.0004	0.0004	0.0005	0.0004	0.0060	0.0004	0.0004	0.0054	0.0051	0.0060	0.0026	0.0004	0	0	0.0007	0.0002	0.0008	3.478e-05	0.0021	0.0021	0.0021	0.0021	0.0058	0.0019	0.0018	0.0052	0.0050	0.0058	0.0088	0.0028	0.0003	0	0	0	0.0002	0.0038	0	0.022	0.50676	D	0.016	0.60972	D	0.979	0.59044	D	0.735	0.55480	P	0.092521	0.20270	N	0.529823	1	0.08975	N	2.08	0.57402	M	1.56	0.29602	T	-1.45	0.35597	N	0.207	0.24135	-1.1034	0.03704	T	0.051	0.21806	T	10	0.004238099	0.00085	T	0.009751	0.25449	T	0.045	0.12272	0.379	0.39482	0.387689773709	0.38380	0.5546125350070025	0.55388	0.200810428298	0.22476	0.324553728104	0.14111	T	0.021855	0.16951	T	-0.521467	0.00431	T	-0.519494	0.20346	T	0.012812740264566	0.00218	T	0.869013	0.58193	D	0.0767445	0.17375	0.063638404	0.12637	0.0767445	0.17375	0.063638404	0.12636	-3.983	0.23548	T	.	.	0.126	0.27968	B	.;.;.	.;.;.	1.739289	0.22131	15.49	0.9965511618627072	0.77568	0.21372	0.21378	N	AEFDGBCI	0.193169	0.32030	N	-0.119633907526653	0.36539	2.11335	-0.14294785819307	0.33680	1.929139	0.994483591043477	0.33658	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.79	2.24	0.27264	-0.168000	0.09914	0.070000	0.14249	-0.171000	0.11205	0.019000	0.19563	0.002000	0.18203	0.818000	0.38543	0.0:0.601:0.0:0.399	7.594	0.27207	310	0.87484	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1689.33	44	chr17	58307725	.	C	G	1689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.7;DP=906;ExcessHet=0;FS=1.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.04;SOR=0.703	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1703,0,1841	18	0	1	0
chr17	58326738	58326738	G	A	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_001261835:exon2:c.C386T:p.A129V,TSPOAP1:NM_004758:exon2:c.C386T:p.A129V,TSPOAP1:NM_024418:exon2:c.C386T:p.A129V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00787001909076	.	.	0.0003	0	0	0	0	0	0	0.0019	0.0002005	31	154602	rs748701912	0.0001	0.0001	7.079e-05	0.0001	0.0017	9.603e-05	9.083e-05	0.0014	0.0014	0	2.236e-05	0	0	0	0	2.698e-06	0.0002	0.0017	3.943e-05	3.94e-05	0	8.071e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.019	0.78490	D	0.005	0.72224	D	0.767	0.43786	P	0.439	0.45685	B	0.000019	0.62929	D	0.068154	0.892288	0.35979	D	1.1	0.28011	L	3.36	0.05918	T	-2.09	0.47683	N	0.569	0.61933	-1.1134	0.02793	T	0.052	0.22230	T	10	0.039906263	0.02517	T	0.00787	0.20877	T	0.066	0.19193	0.218	0.13932	0.574740180783	0.57141	0.4980325598482961	0.49724	0.637256965817	0.57471	0.485219538212	0.36776	T	0.026045	0.19354	T	-0.430841	0.01465	T	-0.410664	0.32148	T	0.175734892487526	0.18962	T	0.955004	0.82846	D	0.32950237	0.55431	0.3574449	0.61238	0.32950237	0.55431	0.3574449	0.61238	-8.419	0.63891	D	.	.	0.292	0.52360	B	.;.	.;.	3.677708	0.52329	23.2	0.99866061366202197	0.94457	0.95019	0.63143	D	AEFDBHCIJ	0.566506	0.57246	D	0.491484272627269	0.66591	4.97	0.498568153613622	0.67894	5.145678	0.999999995221353	0.74766	0.676195	0.55175	0	0.759151	0.99529	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	4.73	0.59485	2.767000	0.47321	6.622000	0.56123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8275:0.1725	12.022	0.52642	309	0.87553	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1008.33	38	chr17	58326738	.	G	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.455;DP=752;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.02;SOR=0.475	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1022,0,1165	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	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	0/1:24,18:46:60:60,0,313	8	0	11	0
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.05263	2148.83	33	chr17	63872555	.	C	T	2148.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.444;DP=1095;ExcessHet=0.119;FS=2.025;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.44;MQRankSum=-3.111;QD=4.61;ReadPosRankSum=0.922;SOR=0.921	GT:AD:DP:GQ:PL	0/1:185,57:242:99:1000,0,4731	17	0	2	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.02632	672.33	36	chr17	74854900	.	G	A	672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.826;DP=698;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.537;SOR=0.467	GT:AD:DP:GQ:PL	0/1:28,26:54:99:686,0,853	18	0	1	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,21:68:99:1|0:74893497_C_CGGTTCCATGGGCTCCGTA:600,0,1795:74893497	13	1	5	0
chr17	74935803	74935803	T	C	exonic	OTOP3	.	startloss	OTOP3:NM_178233:exon1:c.T2C:p.M1?	.	429	1058	35	0	0	35	0.0162715	.	.	.	2808352	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.307	0.240900684133	0.0028	0.000399361	0.0059	0	0.0074	0	0	0.0065	0	0.0075	0.000815	126	154602	rs368367098	0.0028	0.0027	0.0027	0.0029	0.0201	0.0027	0.0027	0.0171	0.0160	0.0005	0.0017	0.0002	0	0.0011	0.0201	0.0029	0.0034	0.0036	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0025	0.0024	0.0004	0.0022	0.0023	0.0003	0	0.0016	0.0374	0.0028	0.0038	0.0017	.	.	.	.	.	.	0.932	0.51990	P	0.775	0.57058	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.1759	0.00434	T	0.046	0.19599	T	8	0.013410479	0.00284	T	0.240901	0.88694	D	.	.	.	.	.	.	0.35152649025108534	0.35066	.	.	.	.	.	0.003197	0.02596	T	-0.281902	0.10467	T	-0.177991	0.56708	T	0.0652697690357915	0.07971	T	0.9	0.65058	D	0.8545362	0.87673	0.72875154	0.83974	0.8545362	0.87674	0.72875154	0.83975	-6.006	0.46330	T	.	.	.	.	.	.	.	2.574557	0.33367	19.32	0.95942560923393894	0.28247	0.66934	0.33252	D	AEFDBHCI	0.200952	0.32764	N	0.342361878231728	0.58337	4.005367	0.318435499155554	0.56623	3.825909	0.997488613492816	0.35668	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.08	4.08	0.46880	1.947000	0.39919	4.911000	0.45953	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	9.377	0.37453	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	0.006494	0.000000	0.000000	0.022936	0.000000	0.000000	0.000000	0.000000	0.02632	972.33	36	chr17	74935803	.	T	C	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.397;SOR=0.675	GT:AD:DP:GQ:PL	0/1:53,42:95:99:986,0,1327	18	0	1	0
chr17	75740047	75740047	G	A	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon19:c.G2422A:p.A808T,ITGB4:NM_000213:exon20:c.G2422A:p.A808T,ITGB4:NM_001005731:exon20:c.G2422A:p.A808T,ITGB4:NM_001321123:exon20:c.G2422A:p.A808T	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	1	1510	11	0	0	11	0.00362917	.	.	.	329900	Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_5A,_intermediate|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_1C,_localized|ITGB4-related_disorder|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0468069312617	0.0011	.	0.0013	0.0002	0.0008	0	0.0002	0.0012	0	0.0040	0.0011578	179	154602	rs147480547	0.0011	0.0011	0.0010	0.0012	0.0051	0.0010	0.0010	0.0036	0.0031	0.0002	0.0006	7.663e-05	2.519e-05	0.0004	0.0051	0.0011	0.0010	0.0030	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0014	0.0011	0.0002	0	0.0004	0	0	0.0003	0.0102	0.0011	0.0024	0.0025	0.005	0.65419	D	0.254	0.23433	T	0.713	0.42139	P	0.124	0.35019	B	0.076495	0.21160	N	0.489617	0.996892	0.22865	N	0.205	0.09354	N	-1.01	0.76168	T	-1.02	0.26843	N	0.305	0.35088	-0.8248	0.53632	T	0.218	0.58007	T	10	0.009006709	0.00204	T	0.046807	0.62629	D	0.128	0.35103	.	.	0.802088982772	0.80024	0.17809287036914884	0.17728	0.392990782166	0.40477	0.320725917816	0.13531	T	0.086676	0.37775	T	-0.387272	0.02801	T	-0.331487	0.41304	T	0.0197603377159105	0.00678	T	0.856214	0.54490	D	0.06800812	0.14778	0.06894139	0.14461	0.06214681	0.12947	0.08394124	0.19275	-4.114	0.25496	T	0.15059445363326615	0.17701	0.075	0.05711	B	.;.;.;.	.;.;.;.	2.444966	0.31476	18.75	0.83698386518773016	0.14870	0.39634	0.26256	N	AEFDBHCI	0.239543	0.36149	N	-0.354362780571885	0.27113	1.484929	-0.356770165904518	0.26300	1.451806	0.0342301573221937	0.14144	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.94	3.96	0.45097	1.799000	0.38459	3.218000	0.36838	0.676000	0.76740	0.124000	0.23245	0.999000	0.35428	0.319000	0.24947	0.0:0.1391:0.5474:0.3135	9.024	0.35377	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.000000	0.008772	0.000000	0.008621	0.006135	0.011364	0.02632	1174.33	33	chr17	75740047	.	G	A	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.189;DP=700;ExcessHet=0;FS=5.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.01;SOR=0.279	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1188,0,881	18	0	1	0
chr17	75742728	75742728	C	T	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon24:c.C2929T:p.R977C,ITGB4:NM_000213:exon25:c.C2929T:p.R977C,ITGB4:NM_001005731:exon25:c.C2929T:p.R977C,ITGB4:NM_001321123:exon25:c.C2929T:p.R977C	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	347256	Inborn_genetic_diseases|Nephrotic_syndrome|not_provided|Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_5A,_intermediate|not_specified	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|MedGen:C3661900|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.617	0.101177935826	0.0027	0.00139776	0.0028	0.0005	0.0012	0.0001	0.0015	0.0031	0.0012	0.0065	0.0026196	405	154602	rs145976111	0.0029	0.0029	0.0028	0.0031	0.0120	0.0029	0.0028	0.0097	0.0089	0.0005	0.0017	0.0064	0.0002	0.0018	0.0120	0.0028	0.0034	0.0061	0.0023	0.0023	0.0024	0.0022	0.0048	0.0021	0.0020	0.0033	0.0028	0.0006	0.0055	0.0017	0.0040	0.0002	0.0019	0.0102	0.0032	0.0047	0.0048	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.912	0.70163	D	0.000270	0.46590	D	0.139500	0.999995	0.58761	D	1.67	0.42885	L	-1.03	0.76430	T	-3.4	0.67014	D	0.773	0.78832	-0.2472	0.76435	T	0.332	0.69910	T	10	0.031034738	0.01234	T	0.101178	0.77390	D	0.617	0.85091	.	.	0.905751909215	0.90481	0.7102794823181707	0.70969	1.15290462371	0.79275	0.60603672266	0.53757	T	0.560695	0.85289	D	-0.0817355	0.39431	T	0.112428	0.77733	D	0.0309897797421017	0.02145	T	0.982502	0.94093	D	0.53830844	0.69301	0.23947915	0.49297	0.4565671	0.64458	0.23470946	0.48693	-8.121	0.62337	D	0.32080955891696905	0.41893	0.361	0.57280	A	.;.;.;.	.;.;.;.	5.786628	0.93550	33	0.99271310610921526	0.57559	0.94808	0.62400	D	AEFBI	0.735280	0.68114	D	0.523707873455371	0.68495	5.225	0.553436444758145	0.71637	5.685199	0.0521623657753597	0.14897	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	3.182000	0.50611	7.550000	0.60255	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.2674:0.7326:0.0:0.0	13.202	0.59196	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	0.010070	0.000000	0.002717	0.011696	0.000000	0.008621	0.015244	0.034091	0.02632	1117.33	33	chr17	75742728	.	C	T	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=724;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.017;SOR=0.98	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1131,0,1025	18	0	1	0
chr17	75948415	75948415	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_001185039:exon13:c.C1657T:p.R553C,ACOX1:NM_004035:exon13:c.C1771T:p.R591C,ACOX1:NM_007292:exon13:c.C1771T:p.R591C	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	256457	not_provided|Acyl-CoA_oxidase_deficiency|not_specified|ACOX1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	0.0095	0.013778	0.0038	0.0260	0.0025	0	0	0.0016	0.0055	0.0028	0.003758	581	154602	rs35629489	0.0020	0.0020	0.0020	0.0020	0.0270	0.0019	0.0019	0.0255	0.0250	0.0270	0.0034	0.0087	0	0	0.0128	0.0010	0.0042	0.0029	0.0087	0.0087	0.0085	0.0090	0.0259	0.0083	0.0082	0.0246	0.0241	0.0259	0	0.0062	0.0089	0.0002	0	0.0170	0.0013	0.0052	0.0037	0.004	0.65419	D	0.067	0.44302	T	0.268	0.36540	B	0.045	0.31143	B	0.000003	0.62929	D	0.099482	0.954204	0.37866	D	2.97	0.85306	M	0.85	0.47130	T	-3.82	0.71997	D	0.688	0.69387	-0.6081	0.64483	T	0.080	0.31735	T	10	0.018170953	0.00393	T	.	.	.	0.335	0.65718	.	.	0.609094465904	0.60595	0.5070001610935612	0.50622	0.54065144501	0.51256	0.32819890976	0.14661	T	0.654573	0.89559	D	-0.362422	0.03995	T	-0.273099	0.47506	T	0.0385937900678613	0.03437	T	0.916108	0.70062	D	0.21927117	0.44454	0.18200777	0.41100	0.21743071	0.44226	0.18375361	0.41384	-4.18	0.26461	T	0.315368797098266	0.41340	0.156	0.35498	B	.;.	.;.	4.128750	0.61766	24.4	0.99914957238359692	0.98309	0.95532	0.65096	D	AEFBI	0.804815	0.72957	D	0.378049603987913	0.60235	4.210158	0.318088061416153	0.56604	3.823808	0.181577181804373	0.17878	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	5.616000	0.67389	5.816000	0.50045	0.676000	0.76740	1.000000	0.71638	0.994000	0.32194	0.624000	0.32000	0.0:0.0:1.0:0.0	19.738	0.96212	742	0.52873	.;Acyl-CoA oxidase, 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	0.015152	0.040404	0.012228	0.005848	0.000000	0.025862	0.012346	0.000000	0.05263	1699.83	34	chr17	75948415	.	G	A	1699.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.119;FS=0.589;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.59;SOR=0.613	GT:AD:DP:GQ:PL	0/1:42,37:79:99:811,0,1049	17	0	2	0
chr17	78827329	78827329	C	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon5:c.G110A:p.R37H,USP36:NM_001385178:exon5:c.G110A:p.R37H,USP36:NM_001321291:exon6:c.G605A:p.R202H,USP36:NM_001385169:exon6:c.G605A:p.R202H,USP36:NM_001385170:exon6:c.G605A:p.R202H,USP36:NM_001385171:exon6:c.G605A:p.R202H,USP36:NM_001385173:exon6:c.G605A:p.R202H,USP36:NM_001385174:exon6:c.G605A:p.R202H,USP36:NM_001385175:exon6:c.G605A:p.R202H,USP36:NM_001385176:exon6:c.G605A:p.R202H,USP36:NM_001385172:exon7:c.G605A:p.R202H	.	.	.	.	.	.	.	.	.	.	.	2431450	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.239	0.0384552531843	0.0002	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0	9.7e-05	15	154602	rs370089975	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0	3.751e-05	0	0.0002	0.0001	5.805e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.242e-05	9.572e-05	7.011e-05	0.0002	0	0.0003	0	0	9.423e-05	0	0.0002	0	0	0.106	0.29688	T	0.0	0.92824	D	0.976	0.58310	D	0.769	0.56777	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	1.5	0.31205	T	-3.99	0.73893	D	0.821	0.82964	-0.8077	0.54689	T	0.175	0.51880	T	10	0.33126932	0.50352	T	0.038455	0.58233	D	0.239	0.54358	.	.	0.564392371781	0.56103	0.5670028304708815	0.56628	0.408498947633	0.41690	0.661425232887	0.61614	T	0.04896	0.28168	T	-0.212891	0.18974	T	-0.29527	0.45220	T	0.451641082763672	0.30857	T	0.894511	0.81930	D	0.3331276	0.55725	0.30131862	0.56164	0.3331276	0.55725	0.30131862	0.56164	-10.047	0.74193	D	.	.	0.136	0.39408	B	.;.;.;.;.	.;.;.;.;.	4.418878	0.68430	25.2	0.99865325534130922	0.94366	0.97464	0.74918	D	AEFDBHCI	0.920483	0.89253	D	0.599604750485453	0.73150	5.919359	0.64188101313184	0.78006	6.790414	0.999999999999996	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	7.794000	0.84430	3.201000	0.36751	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.992	0.89094	946	0.12043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;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	.	.	.	.	.	.	.	.	0.02632	305.33	34	chr17	78827329	.	C	T	305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.628;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,14:30:99:319,0,440	18	0	1	0
chr17	80217061	80217061	G	A	exonic	SGSH	.	nonsynonymous SNV	SGSH:NM_000199:exon2:c.C220T:p.R74C,SGSH:NM_001352921:exon2:c.C220T:p.R74C,SGSH:NM_001352922:exon2:c.C220T:p.R74C	Mucopolysaccharidosis type IIIA (Sanfilippo A), Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	20147	not_provided|Abnormal_circulating_carbohydrate_concentration|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-III-A	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004366,Human_Phenotype_Ontology:HP:0011013,MedGen:C5139058|MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213|MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.947	0.6437047581	0.0003	.	0.0002	0	0	0	0	0.0004	0	0	8.41e-05	13	154602	rs104894636	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	3.003e-05	0	0	0	0.0002	0	0.0003	6.718e-05	8.415e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	4.825e-05	0	0	0	0	0.0002	0	0.0004	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	A	4.79	0.99631	H	-4.78	0.98140	D	-7.59	0.95305	D	0.978	0.98840	1.068	0.98536	D	0.977	0.99300	D	9	0.96618414	0.96106	D	0.643705	0.96969	D	0.947	0.98955	.	.	0.990263622423	0.99015	0.9860345047590354	0.98596	0.90052111652	0.70617	0.806836009026	0.83007	D	0.950253	0.99278	D	0.27476	0.80862	D	0.571457	0.96244	D	0.992078602313995	0.82470	D	0.89891	0.72990	D	0.98443407	0.99429	0.8310493	0.90253	0.9682114	0.98092	0.845689	0.91216	-12.846	0.88718	D	0.6998229612918919	0.77863	0.956	0.87613	P	.;.	.;.	6.132997	0.94635	34	0.99924078016274254	0.98980	0.94958	0.62924	D	AEFDBHCI	0.811189	0.73424	D	0.894836035049168	0.91505	10.91736	0.72466921964677	0.84252	8.240538	0.999837465429713	0.43792	0.651	0.46895	0	0.614415	0.52539	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.74	3.74	0.42108	5.874000	0.69399	8.357000	0.77023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.814:0.186	11.034	0.47010	830	0.39242	Sulfatase, N-terminal|Sulfatase, conserved site;Sulfatase, N-terminal|Sulfatase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	983.33	38	chr17	80217061	.	G	A	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=742;ExcessHet=0;FS=7.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.088;SOR=1.477	GT:AD:DP:GQ:PL	0/1:57,40:97:99:997,0,1312	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	0/1:163,43:208:60:60,0,3045	9	0	7	3
chr18	580412	580412	G	A	exonic	CETN1	.	nonsynonymous SNV	CETN1:NM_004066:exon1:c.G4A:p.A2T	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0326777225902	0.0016	0.00159744	0.0035	0.0011	0.0090	0	0.0043	0.0065	0	0.0006	0.0012354	191	154602	rs115842359	0.0030	0.0029	0.0030	0.0029	0.0035	0.0029	0.0029	0.0034	0.0033	0.0006	0.0027	3.987e-05	0	0.0007	0.0018	0.0035	0.0034	0.0002	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0004	0	0.0054	0	0	0.0005	0	0.0038	0.0005	0.0002	0.064	0.36509	T	0.08	0.41913	T	0.096	0.25489	B	0.126	0.32692	B	0.000001	0.84330	D	0.000000	0.999996	0.58761	D	1.905	0.50856	L	-0.7	0.72785	T	-1.45	0.35597	N	0.437	0.47580	-0.8104	0.54526	T	0.149	0.47646	T	10	0.0075883865	0.00172	T	0.032678	0.54438	D	0.290	0.60924	.	.	0.572442375005	0.56910	0.7000287511657525	0.69943	0.819317766671	0.67085	0.56910097599	0.48550	T	0.009454	0.08612	T	-0.299897	0.08668	T	-0.201223	0.54529	T	0.0696975188493748	0.08609	T	0.284972	0.05045	T	0.124783285	0.29270	0.1933531	0.42899	0.124783285	0.29269	0.1933531	0.42898	-6.136	0.47403	T	.	.	0.201	0.42433	B	.	.	3.191857	0.43374	21.7	0.99602855104825161	0.74338	0.86949	0.46347	D	AEFDBHCI	0.436707	0.49681	N	-0.119460031352002	0.36546	2.113884	0.0447497648739503	0.41817	2.518783	0.999999999960916	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	8.263000	0.89797	7.988000	0.76101	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	16.648	0.85039	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001538	0.000000	0.002740	0.000000	0.000000	0.008929	0.003145	0.000000	0.02632	977.33	34	chr18	580412	.	G	A	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.797;DP=677;ExcessHet=0;FS=2.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=1.13;SOR=1.075	GT:AD:DP:GQ:PL	0/1:23,35:58:99:991,0,579	18	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V,TYMS:NM_001071:exon4:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase 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	.	.	.	.	.	.	.	.	0.05263	663.83	33	chr18	669146	.	A	G	663.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.863;DP=1073;ExcessHet=0.119;FS=142.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.19;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,27:140:99:.:.:251,0,3904:.	17	0	2	0
chr18	2567042	2567042	A	G	exonic	METTL4	.	nonsynonymous SNV	METTL4:NM_001308401:exon2:c.T175C:p.C59R,METTL4:NM_022840:exon2:c.T175C:p.C59R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0044879360085	0.0021	.	0.0019	0.0004	0.0005	0	0.0012	0.0031	0	0	0.001837	284	154602	rs145830021	0.0029	0.0029	0.0030	0.0027	0.0035	0.0028	0.0028	0.0035	0.0034	0.0004	0.0004	3.827e-05	0	0.0012	0.0002	0.0035	0.0022	4.638e-05	0.0019	0.0019	0.0023	0.0014	0.0036	0.0017	0.0016	0.0032	0.0031	0.0008	0	0.0001	0	0	0.0008	0	0.0036	0	0	0.088	0.32296	T	0.08	0.41913	T	0.028	0.19712	B	0.014	0.16862	B	0.115888	0.19215	N	0.516698	0.999984	0.18198	N	0.69	0.16971	N	1.97	0.22067	T	-0.33	0.12472	N	0.207	0.22998	-1.0289	0.20811	T	0.032	0.13767	T	10	0.006624937	0.00150	T	0.004488	0.11031	T	0.006	0.00375	.	.	0.141422826196	0.13715	0.27345654039169726	0.27258	0.174350911685	0.19631	0.272959411144	0.06530	T	0.002087	0.01490	T	-0.622117	0.00107	T	-0.667243	0.07787	T	0.00302511835070444	0.00032	T	0.464354	0.13557	T	0.12165602	0.28604	0.13639775	0.32630	0.12165602	0.28604	0.13639775	0.32630	-3.303	0.13776	T	.	.	0.079	0.08465	B	.;.;.	.;.;.	0.764987	0.11347	7.966	0.73690177164517257	0.10420	0.04471	0.10081	N	AEFBI	0.096725	0.19521	N	-0.967715081906751	0.09300	0.4395359	-0.941327728980476	0.11125	0.5648399	0.999821643100958	0.43622	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.37	2.88	0.32617	0.211000	0.17268	1.828000	0.29093	-0.140000	0.12423	0.001000	0.13787	0.953000	0.29079	0.019000	0.11356	0.8248:0.0:0.1752:0.0	7.557	0.26998	748	0.52143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1089.33	35	chr18	2567042	.	A	G	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.264;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-2.551;SOR=0.678	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1103,0,1453	18	0	1	0
chr18	5398076	5398076	C	T	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001384686:exon15:c.G1874A:p.R625Q,EPB41L3:NM_001384699:exon15:c.G1547A:p.R516Q,EPB41L3:NM_001384702:exon15:c.G1493A:p.R498Q,EPB41L3:NM_001281533:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001330557:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384682:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384684:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384687:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384688:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384689:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384690:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384692:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384694:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384698:exon16:c.G1583A:p.R528Q,EPB41L3:NM_001384700:exon16:c.G1529A:p.R510Q,EPB41L3:NM_001384701:exon16:c.G1583A:p.R528Q,EPB41L3:NM_001384703:exon16:c.G1583A:p.R528Q,EPB41L3:NM_001384705:exon16:c.G1529A:p.R510Q,EPB41L3:NM_001384685:exon17:c.G2471A:p.R824Q,EPB41L3:NM_012307:exon17:c.G2417A:p.R806Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0314475163041	.	.	8.294e-06	9.798e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs771881652	2.121e-05	2.189e-05	1.497e-05	2.75e-05	8.961e-05	1.52e-05	1.324e-05	2.374e-05	1.304e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	2.248e-05	0	1.159e-05	3.944e-05	3.94e-05	3.855e-05	4.036e-05	0.0001	1.716e-05	1.13e-05	2.262e-05	9.08e-06	4.826e-05	0	0.0001	0	0	9.425e-05	0	1.47e-05	0	0	0.016	0.68238	D	0.387	0.22494	T	1.0	0.90584	D	0.929	0.66367	D	0.004861	0.33331	N	0.352659	0.858508	0.81001	D	2.425	0.70256	M	-1.69	0.82985	D	-0.31	0.27463	N	0.568	0.59138	0.244	0.86638	D	0.651	0.87835	D	10	0.21242198	0.37701	T	0.031448	0.53528	D	0.378	0.69612	0.231	0.15855	0.822711762098	0.82103	0.40038591396138595	0.39953	0.284345644928	0.30857	0.362390398979	0.19734	T	0.130694	0.45975	T	-0.00252329	0.51307	T	-0.0592541	0.66385	T	0.258811801671982	0.23263	T	0.969503	0.89869	D	0.16943707	0.37460	0.16256161	0.37756	0.16943707	0.37459	0.16256161	0.37755	-9.329	0.69789	D	.	.	0.138	0.35477	B	.;.;.;.;.;.	.;.;.;.;.;.	3.898683	0.56773	23.8	0.9994113213372714	0.99797	0.89503	0.50009	D	AEFBI	0.453131	0.50639	N	0.195771090508147	0.50995	3.284501	0.182790964568018	0.48905	3.100254	0.998344194330561	0.36796	0.562547	0.31514	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	6.17	4.4	0.52402	3.112000	0.50061	4.006000	0.41118	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.993000	0.69303	0.0:0.8699:0.0:0.1301	12.940	0.57734	765	0.49814	.;.;.;.;.;.	.	.	.	.	.	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	2670.33	33	chr18	5398076	.	C	T	2670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=802;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=1.33;SOR=0.859	GT:AD:DP:GQ:PL	0/1:61,106:167:99:2684,0,1273	18	0	1	0
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	0/1:7,158:409:99:.:.:12552,6818,9160:.	6	3	10	0
chr18	10540396	10540396	G	A	exonic	NAPG	.	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G503A:p.R168H	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0696154579722	0.0003	0.000998403	0.0009	0.0002	0.0014	0	0	0.0013	0.0034	0.0002	0.0008344	129	154602	rs143915056	0.0008	0.0008	0.0007	0.0008	0.0066	0.0007	0.0007	0.0049	0.0044	0.0006	0.0011	0.0106	0	5.65e-05	0.0066	0.0006	0.0014	0.0003	0.0006	0.0006	0.0007	0.0004	0.0007	0.0005	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0089	0	0	0	0.0005	0.0009	0.0004	0.036	0.43393	D	0.106	0.37872	T	0.983	0.60381	D	0.497	0.47562	P	0.000017	0.62929	D	0.187435	0.999999	0.58761	D	1.935	0.51832	L	-1.01	0.76168	T	-1.67	0.39887	N	0.423	0.46274	-0.2243	0.77037	T	0.422	0.76704	T	10	0.010468781	0.00233	T	0.069615	0.70777	D	0.240	0.54500	.	.	0.882464406444	0.88130	0.5444775080861449	0.54373	0.432589321171	0.43428	0.701806128025	0.67405	T	0.045664	0.27191	T	-0.241383	0.15173	T	-0.165058	0.57895	T	0.0822120010852814	0.10268	T	0.948405	0.80130	D	0.05393279	0.10277	0.076638035	0.16992	0.05393279	0.10276	0.076638035	0.16992	-6.379	0.49345	T	.	.	0.086	0.10787	B	.	.	4.296700	0.65572	24.8	0.99949895232128616	0.99938	0.97678	0.76352	D	AEFBI	0.671893	0.63848	D	0.602898797869393	0.73357	5.95301	0.671260098904856	0.80201	7.246884	0.999999952243803	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	5.700000	0.67974	7.465000	0.59093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	20.404	0.99007	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.020468	0.000000	0.008621	0.006098	0.000000	0.02632	781.33	34	chr18	10540396	.	G	A	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.116;DP=699;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.037;SOR=0.614	GT:AD:DP:GQ:PL	0/1:39,36:75:99:795,0,851	18	0	1	0
chr18	25225890	25225890	T	G	exonic	ZNF521	.	nonsynonymous SNV	ZNF521:NM_001308225:exon3:c.A1368C:p.Q456H,ZNF521:NM_015461:exon4:c.A2028C:p.Q676H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0126031289332	.	.	3.312e-05	0	0	0	0	6.026e-05	0	0	3.88e-05	6	154602	rs148801410	3.01e-05	3.01e-05	2.45e-05	3.575e-05	0.0003	2.282e-05	2.032e-05	6.092e-05	2.521e-05	0.0001	6.708e-05	0	0	0	0.0003	2.968e-05	1.656e-05	1.159e-05	5.255e-05	5.253e-05	5.137e-05	5.378e-05	8.819e-05	2.556e-05	1.83e-05	3.761e-05	2.575e-05	2.412e-05	0	6.54e-05	0	0	0	0	8.819e-05	0	0	0.007	0.59928	D	0.024	0.56640	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.803287	0.29089	N	1.435	0.35949	L	0.6	0.53731	T	-2.25	0.50337	N	0.738	0.75742	-0.2280	0.76940	T	0.476	0.79920	T	10	0.5716454	0.65352	D	0.012603	0.31316	T	0.414	0.72479	0.612	0.74535	0.259504319725	0.25562	0.4059067767618641	0.40506	1.05237571627	0.76196	0.865358233452	0.91899	D	0.239197	0.60726	T	-0.0886102	0.38305	T	-0.189212	0.55665	T	0.25365310821901	0.23036	T	0.933807	0.75196	D	0.3218111	0.54792	0.30634037	0.56659	0.3218111	0.54792	0.30634037	0.56658	-6.564	0.50778	T	.	.	0.520	0.69020	A	.;.;.	.;.;.	1.313670	0.17168	13.00	0.6640524104142973	0.08049	0.15443	0.18914	N	AEFGBI	0.372150	0.45790	N	-0.738793448734839	0.14939	0.7485445	-0.969280657307751	0.10479	0.5280499	0.999999990780021	0.74766	0.706548	0.73137	0	0.475579	0.06741	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.87	-8.83	0.00696	-1.886000	0.01710	-4.273000	0.02245	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.0:0.8106:0.0:0.1894	24.488	0.99990	905	0.23532	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	2262.33	39	chr18	25225890	.	T	G	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.55;DP=963;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.312;SOR=0.725	GT:AD:DP:GQ:PL	0/1:112,95:207:99:2276,0,3014	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/1:213,59:272:80:80,0,4807	13	0	6	0
chr18	46507646	46507646	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.C301T:p.R101W,LOXHD1:NM_001173129:exon4:c.C301T:p.R101W,LOXHD1:NM_001308013:exon16:c.C1963T:p.R655W,LOXHD1:NM_001145472:exon18:c.C2251T:p.R751W,LOXHD1:NM_144612:exon35:c.C5398T:p.R1800W,LOXHD1:NM_001384474:exon36:c.C5584T:p.R1862W	Deafness, autosomal recessive 77, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	230917	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0221032658502	0.0004	.	0.0008	0	0	0	0	0.0005	0.0042	0.0016	0.0001423	22	154602	rs201994383	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0022	0.0002	2.801e-05	0.0005	0	8.118e-05	0.0039	0.0001	0.0004	0.0015	0.0001	0.0001	8.995e-05	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	7.217e-05	0	6.537e-05	0.0017	0.0002	0.0002	0	7.35e-05	0	0.0008	0.013	0.59928	D	0.02	0.62352	D	0.997	0.70673	D	0.627	0.51631	P	.	.	.	.	0.934216	0.27867	N	.	.	.	1.53	0.30401	T	-3.29	0.68532	D	0.241	0.33250	-1.0401	0.17283	T	0.079	0.31526	T	9	0.03621626	0.01909	T	0.022103	0.44952	T	0.154	0.40340	.	.	0.3085936734	0.30458	0.6855143700331494	0.68490	.	.	0.437417447567	0.30224	T	0.058536	0.30868	T	-0.440209	0.01290	T	-0.440485	0.28755	T	0.0933339290138825	0.11608	T	0.922708	0.71908	D	0.14633803	0.33504	0.16563064	0.38306	0.119899414	0.28223	0.18794675	0.42055	-7.176	0.57912	T	.	.	0.136	0.44201	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.024683	0.59468	24.1	0.93081625396445433	0.22701	0.79935	0.39711	D	AEFBI	0.782590	0.71383	D	-0.0194139625491323	0.40977	2.44293	-0.0100512462407786	0.39260	2.325097	0.00389632127999663	0.10327	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	1.9	0.24770	1.211000	0.31987	0.417000	0.18177	0.504000	0.22967	1.000000	0.71638	0.402000	0.24716	0.996000	0.76049	0.0:0.0955:0.4753:0.4292	11.523	0.49814	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 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	1875.33	36	chr18	46507646	.	G	A	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.045;DP=814;ExcessHet=0;FS=2.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=2.38;SOR=0.735	GT:AD:DP:GQ:PL	0/1:103,85:188:99:1889,0,2513	18	0	1	0
chr18	50801498	50801498	C	T	exonic	MRO	.	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G478A:p.D160N,MRO:NM_001369510:exon5:c.G436A:p.D146N,MRO:NM_001369508:exon6:c.G436A:p.D146N,MRO:NM_031939:exon6:c.G436A:p.D146N	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0008	0.00359425	0.0031	0.0002	0.0015	0.0001	0.0009	0.0019	0.0024	0.0165	0.0027684	428	154602	rs34421198	0.0024	0.0025	0.0020	0.0029	0.0151	0.0024	0.0024	0.0144	0.0141	0.0005	0.0014	0.0002	7.595e-05	0.0009	0.0150	0.0017	0.0024	0.0151	0.0020	0.0020	0.0017	0.0024	0.0139	0.0019	0.0018	0.0112	0.0103	0.0003	0	0.0046	0	0.0006	0.0008	0.0068	0.0021	0.0014	0.0139	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.975	0.73362	D	0.000007	0.62929	D	0.000000	0.696698	0.81001	D	2.815	0.81989	M	1.42	0.65006	T	-3.44	0.67477	D	0.605	0.62611	-0.1139	0.79777	T	0.362	0.72330	T	10	0.007470429	0.00170	T	.	.	.	0.271	0.58633	.	.	0.575311710502	0.57199	0.16681027560439488	0.16601	0.0435277124011	0.04688	0.48858615756	0.37242	T	0.110548	0.42532	T	-0.41668	0.01797	T	-0.358984	0.38171	T	0.0206226885171932	0.00762	T	0.861714	0.55578	D	0.29636022	0.52576	0.25336042	0.50982	0.29636022	0.52576	0.25336042	0.50981	-7.849	0.61343	D	.	.	0.168	0.37159	B	.;.;.;.;.	.;.;.;.;.	4.209609	0.63584	24.6	0.99807372955357432	0.89174	0.57508	0.30395	D	AEFDI	0.299725	0.40870	N	0.363860164978995	0.59477	4.127244	0.231101934870252	0.51582	3.339425	0.999706443228583	0.41986	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	1.657000	0.36981	5.928000	0.51272	0.599000	0.40250	0.917000	0.31872	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	15.308	0.73714	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	0.009586	0.005051	0.004076	0.005848	0.000000	0.000000	0.015337	0.022727	0.02632	1025.33	34	chr18	50801498	.	C	T	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=644;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.183;SOR=1.488	GT:AD:DP:GQ:PL	0/1:17,37:54:99:1039,0,342	18	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	688.39	143	chr18	51177112	.	A	G	688.39	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.641;DP=1650;ExcessHet=0.3672;FS=98.343;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.16;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,25:121:99:0|1:51177112_A_G:417,0,3603:51177112	13	0	3	3
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	520.39	133	chr18	51177115	.	C	T	520.39	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-3.841;DP=1532;ExcessHet=0.119;FS=152.544;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=2.03;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,15:112:99:.:.:282,0,3533:.	15	0	2	2
chr18	58671836	58671836	G	-	exonic	MALT1	.	frameshift deletion	MALT1:NM_006785:exon1:c.193delG:p.R66Afs*7,MALT1:NM_173844:exon1:c.193delG:p.R66Afs*7	Immunodeficiency 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	36.01	1	chr18	58671835	.	CG	C	36.01	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.383;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=-0.0808;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:48:48,0,59	16	0	1	2
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|1:53,27:80:33:0|1:65824683_C_G:33,0,1106:65824683	1	0	18	0
chr18	74634032	74634032	G	C	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.G3013C:p.V1005L,ZNF407:NM_001146190:exon1:c.G3013C:p.V1005L,ZNF407:NM_001384475:exon2:c.G3013C:p.V1005L,ZNF407:NM_017757:exon2:c.G3013C:p.V1005L	.	433	1076	13	0	0	13	0.00600462	.	.	.	741460	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00583239815728	0.0002	0.000798722	0.0008	0.0001	8.642e-05	0	0	0.0003	0	0.0048	0.0006986	108	154602	rs372408823	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	2.987e-05	0.0003	0.0001	0	0	0.0049	0.0002	0.0006	0.0054	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	2.405e-05	0	0.0007	0.0003	0.0002	0	0	0.0002	0.0014	0.0037	0.657	0.04742	T	0.941	0.02685	T	0.002	0.09854	B	0.002	0.06944	B	0.555176	0.05393	N	1.278580	1	0.08975	N	0.55	0.14455	N	3.45	0.09167	T	-0.28	0.11547	N	0.049	0.13911	-0.9782	0.35413	T	0.011	0.04227	T	10	0.0031027794	0.00052	T	0.005832	0.15161	T	0.011	0.01250	0.188	0.09776	0.240615537116	0.23683	0.046694548237496254	0.04612	0.0842569272004	0.09510	0.233957082033	0.02274	T	0.017139	0.14038	T	-0.661085	0.00062	T	-0.721151	0.04740	T	0.0186043193086753	0.00574	T	0.668933	0.27772	T	0.057556756	0.11469	0.039194945	0.03956	0.04672273	0.07867	0.046157453	0.06370	-3.192	0.12456	T	.	.	0.090	0.19235	B	.;.;.;.	.;.;.;.	0.209604	0.05935	2.373	0.22846985871122852	0.00938	0.15437	0.18911	N	AEFDGBCI	0.070638	0.14031	N	-1.43922325485938	0.02303	0.1015295	-1.40055732068641	0.03247	0.1510726	0.999979247121428	0.50053	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.89	0.365	0.15364	0.511000	0.22445	-0.110000	0.11840	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3649:0.1907:0.3246:0.1198	1.462	0.02252	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.015152	0.05263	8374.83	232	chr18	74634032	.	G	C	8374.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.47;DP=2915;ExcessHet=0.119;FS=0.521;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.2;SOR=0.683	GT:AD:DP:GQ:PL	0/1:152,160:312:99:4209,0,4006	17	0	2	0
chr18	79347857	79347857	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon24:c.A2770G:p.S924G,ATP9B:NM_198531:exon24:c.A2770G:p.S924G	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.206832270814	.	.	8.262e-06	0	0	0	0	1.504e-05	0	0	3.84e-05	1	26028	rs748839083	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	6.575e-06	6.569e-06	0	1.346e-05	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.005	0.72224	D	0.864	0.50750	P	0.493	0.51118	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.09	0.87444	M	-2.48	0.89071	D	-3.5	0.68178	D	0.873	0.90704	1.060	0.98345	D	0.897	0.96582	D	10	0.8385345	0.83007	D	0.206832	0.87060	D	0.887	0.96725	0.464	0.53404	0.966853504198	0.96649	0.7074264682532349	0.70684	0.259538299536	0.28511	0.597111821175	0.52497	T	0.364657	0.73020	T	0.364114	0.87560	D	0.285248	0.87400	D	0.870676933238105	0.52058	D	0.985401	0.94968	D	0.49708903	0.66923	0.36423022	0.61795	0.49708903	0.66924	0.36423022	0.61795	-10.985	0.79577	D	.	.	0.271	0.50500	B	.;.	.;.	4.633061	0.73682	26.0	0.99806894553526737	0.89085	0.98447	0.82872	D	AEFDBI	0.876997	0.80134	D	0.829957909206601	0.87939	9.395058	0.706676655052392	0.82885	7.879444	0.999999980825375	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	8.589000	0.90602	11.022000	0.84967	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.544000	0.30032	1.0:0.0:0.0:0.0	14.921	0.70481	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1549.33	58	chr18	79347857	.	A	G	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.12;DP=1165;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.57;SOR=0.585	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1563,0,2094	18	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, 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	.	.	.	.	.	.	.	.	0.1667	1259.6	82	chr18	79373903	.	A	G	1259.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.81;DP=861;ExcessHet=1.3;FS=155.795;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=1.49;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:99:0|1:79373902_C_T:375,0,849:79373902	10	0	5	4
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:99:0|1:79373902_C_T:375,0,849:79373902	3	0	9	7
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, 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	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:99:0|1:79373902_C_T:375,0,849:79373902	8	0	6	5
chr19	622832	622832	T	C	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon7:c.A1444G:p.M482V	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0023	0.00179712	0.0015	0.0156	0.0006	0	0	0.0001	0.0029	0	0.0006598	102	154602	rs141490879	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0092	0.0088	0.0101	0.0005	0	5.171e-05	3.921e-05	0.0002	4.437e-05	0.0006	7.137e-05	0.0025	0.0025	0.0025	0.0024	0.0085	0.0023	0.0022	0.0078	0.0075	0.0085	0	0.0009	0	0	0	0	8.824e-05	0.0014	0	.	.	.	0.099	0.38891	T	0.016	0.17332	B	0.008	0.13708	B	0.144721	0.18170	N	0.539041	1	0.08975	N	1.95	0.52479	M	.	.	.	.	.	.	0.32	0.36043	-1.1068	0.03359	T	0.046	0.19720	T	10	0.013186306	0.00281	T	.	.	.	.	.	.	.	0.130388298395	0.12655	0.14111761529309733	0.14034	0.209969907675	0.23470	0.411320060492	0.26639	T	0.009637	0.08763	T	-0.517309	0.00456	T	-0.508321	0.21488	T	0.00251730092234761	0.00026	T	0.551745	0.19033	T	0.10760168	0.25442	0.08530695	0.19688	0.10760168	0.25442	0.08530695	0.19687	-1.054	0.01061	T	.	.	0.176	0.38462	B	.	.	0.384581	0.07562	4.218	0.5035805426403176	0.04370	0.10125	0.15717	N	AEFDBI	0.075265	0.15110	N	-1.46524017080633	0.02100	0.09236466	-1.61325281990095	0.01577	0.07148581	0.999997771506861	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	-8.03	0.00984	0.045000	0.13898	-1.114000	0.06289	-0.286000	0.06345	0.043000	0.21118	0.000000	0.08366	0.001000	0.02609	0.1459:0.0:0.1208:0.7333	10.931	0.46429	994	0.00715	DNA-directed RNA polymerase, N-terminal|DNA-directed RNA polymerase, 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	1183.33	37	chr19	622832	.	T	C	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=746;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.593;SOR=0.806	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1197,0,1133	18	0	1	0
chr19	846150	846150	A	G	exonic	PRTN3	.	nonsynonymous SNV	PRTN3:NM_002777:exon4:c.A373G:p.S125G	.	390	1123	8	1	0	10	0.00443262	.	.	.	3379442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.315	0.188648314331	8e-05	0.000399361	0.0003	0	0	0	0	0.0007	0	0	0.0001682	26	154602	rs144775105	0.0003	0.0003	0.0003	0.0003	0.0100	0.0003	0.0003	0.0078	0.0070	0.0002	0.0012	0.0007	0	0	0.0100	0.0002	0.0007	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0004	0.0003	0	0	0.0034	0.0003	0.0009	0	0.024	0.47745	D	0.21	0.41742	T	0.614	0.39766	P	0.058	0.26451	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	-2.53	0.89430	D	-1.81	0.42575	N	0.135	0.17966	-0.5498	0.66794	T	0.482	0.80200	T	9	0.04023406	0.02575	T	0.188648	0.86014	D	0.315	0.63694	.	.	0.706402102298	0.70384	0.35806606532598667	0.35720	0.227410735123	0.25290	0.393678486347	0.24187	T	0.351077	0.75218	T	-0.275162	0.11189	T	-0.316871	0.42916	T	0.0170078156144058	0.00449	T	0.450155	0.12692	T	0.22363116	0.44987	0.09967294	0.23806	0.22363116	0.44987	0.09967294	0.23806	-5.658	0.43318	T	.	.	0.136	0.29505	B	.;.	.;.	1.274545	0.16738	12.73	0.9216586593873598	0.21528	0.00337	0.01752	N	AEFBI	0.025474	0.01750	N	-1.02750158916183	0.08036	0.3753991	-1.27705179497033	0.04742	0.2244028	0.98753860146513	0.31287	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.11	-6.22	0.01881	-0.416000	0.07162	-0.513000	0.08734	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4866:0.1522:0.3612:0.0	5.151	0.14337	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005735	0.005263	0.006906	0.012195	0.000000	0.009259	0.003226	0.003937	0.02632	880.33	36	chr19	846150	.	A	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.106;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.096;SOR=0.703	GT:AD:DP:GQ:PL	0/1:37,32:69:99:894,0,1128	18	0	1	0
chr19	1106263	1106263	C	T	exonic	GPX4	.	unknown	UNKNOWN	Spondylometaphyseal dysplasia, Sedaghatian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	716139	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0016	0.00259585	0.0006	0.0062	0.0002	0	0	0.0002	0	0	0.0005498	85	154602	rs14283	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0049	0.0046	0.0055	0.0002	0	0	5.766e-05	0.0002	8.226e-05	0.0004	2.325e-05	0.0017	0.0017	0.0018	0.0016	0.0060	0.0015	0.0015	0.0054	0.0051	0.0060	0	0.0004	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.471863	0.00828	T	-0.448656	0.27845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.366764	0.17764	13.36	0.90345821007704885	0.19610	0.62024	0.31657	D	AEFDBHCI	0.058923	0.11091	N	.	.	.	.	.	.	0.999999872333567	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.32	2.13	0.26445	-0.056000	0.11744	-0.377000	0.09567	-0.182000	0.10109	0.895000	0.31310	0.117000	0.22861	0.968000	0.53726	0.0:0.6037:0.0:0.3963	6.782	0.22837	976	0.04745	.	.	.	.	.	.	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	0.001512	0.010204	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1423.33	35	chr19	1106263	.	C	T	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.667;SOR=0.743	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1437,0,1537	18	0	1	0
chr19	1114371	1114371	G	A	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon15:c.C1766T:p.A589V,SBNO2:NM_014963:exon18:c.C1937T:p.A646V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00299393911874	0.0005	0.00159744	0.0006	0.0040	0	0	0	0.0003	0	0	0.000207	32	154602	rs200419778	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0019	0.0017	0.0023	0.0003	0	0	0	0.0004	0.0002	0.0002	1.26e-05	0.0007	0.0007	0.0008	0.0006	0.0025	0.0006	0.0006	0.0021	0.0020	0.0025	0	0.0002	0	0	0	0	0.0001	0	0	0.224	0.21968	T	0.285	0.21545	T	0.05	0.22331	B	0.007	0.14941	B	0.457133	0.04848	N	1.315340	1	0.08975	N	1.645	0.42016	L	.	.	.	-0.98	0.25986	N	0.161	0.16864	-1.0029	0.29080	T	0.035	0.15074	T	9	0.007007152	0.00159	T	0.002994	0.06398	T	0.008	0.00669	.	.	0.119812018005	0.11559	0.3527283297418016	0.35186	0.214305633905	0.23962	0.484899580479	0.36732	T	0.023004	0.17639	T	-0.605778	0.00134	T	-0.649411	0.08995	T	0.00214616904123887	0.00022	T	.	.	.	0.09217559	0.21617	0.04551894	0.06144	0.09217559	0.21617	0.04551894	0.06143	-4.596	0.32658	T	.	.	0.084	0.12655	B	.;.;.	.;.;.	1.168414	0.15580	11.95	0.97929293780866367	0.36942	0.19911	0.20843	N	AEFDBHCI	0.119518	0.23324	N	-0.790689530368887	0.13552	0.6684189	-0.918280853011513	0.11664	0.5955551	0.999998172600995	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.09	0.425	0.15689	0.356000	0.19918	2.183000	0.31145	-0.128000	0.13240	0.000000	0.06391	0.028000	0.21151	0.000000	0.00833	0.1979:0.4886:0.3135:0.0	5.818	0.17765	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	.	.	.	.	.	.	.	.	0.02632	837.33	35	chr19	1114371	.	G	A	837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=1.18;SOR=0.705	GT:AD:DP:GQ:PL	0/1:41,39:80:99:851,0,909	18	0	1	0
chr19	1221980	1221980	C	A	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon7:c.C894A:p.F298L	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic	.	.	.	.	.	.	.	.	.	YES	133164	STK11-related_disorder|Peutz-Jeghers_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Carcinoma_of_pancreas|Germ_cell_tumor_of_testis|Melanoma,_cutaneous_malignant,_susceptibility_to,_1|Familial_pancreatic_carcinoma	.|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,Orphanet:1333,Orphanet:217074|MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618|MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.0835541101495	0.0005	0.000798722	0.0002	0.0018	0	0	0	0	0	0	0.0001682	26	154602	rs199681533	9.528e-05	0.0001	0.0001	7.847e-05	0.0035	8.21e-05	7.667e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0	2.752e-06	0.0002	0	0.0009	0.0009	0.0008	0.0010	0.0032	0.0008	0.0007	0.0027	0.0026	0.0032	0	0.0003	0	0	0	0	0	0.0005	0	0.434	0.09430	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	0.000006	0.62929	N	0.146687	0.999997	0.58761	D	-0.955	0.01252	N	-1.48	0.81150	T	-1.85	0.43334	N	0.36	0.40164	-1.0198	0.23780	T	0.144	0.46714	T	10	0.013816625	0.00292	T	0.083554	0.74139	D	0.288	0.60691	0.414	0.45216	0.304565745084	0.30068	0.7477131475894369	0.74717	0.0474294838818	0.05171	0.685159087181	0.65011	T	0.306327	0.73998	T	-0.44462	0.01215	T	-0.415433	0.31599	T	0.0318039651865356	0.02274	T	0.819918	0.47811	T	0.41548017	0.61789	0.17714342	0.40297	0.41548017	0.61790	0.17714342	0.40296	-2.331	0.04728	T	0.10923123565218697	0.09096	0.804	0.77456	P	.;.	.;.	1.758573	0.22369	15.59	0.97776338546630415	0.35906	0.72359	0.35419	D	AEFDBCI	0.405347	0.47827	N	-0.904143254244823	0.10744	0.5149663	-0.746237084472267	0.15814	0.8336125	0.999990737751047	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.56	-0.909	0.09979	-0.228000	0.09119	-0.194000	0.11009	0.599000	0.40250	0.598000	0.27730	0.485000	0.25122	0.995000	0.73285	0.0:0.6127:0.0:0.3873	9.645	0.39028	958	0.09170	Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1111.33	33	chr19	1221980	.	C	A	1111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=727;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.13;SOR=0.532	GT:AD:DP:GQ:PL	0/1:29,46:75:99:1125,0,674	18	0	1	0
chr19	1234618	1234618	T	G	exonic	CBARP	.	nonsynonymous SNV	CBARP:NM_152769:exon6:c.A580C:p.T194P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0142171192296	0.0005	0.000798722	0.0003	0.0038	0	0	0	0	0	0	0.0002199	34	154602	rs148059894	0.0001	9.987e-05	0.0001	8.143e-05	0.0036	8.672e-05	8.159e-05	0.0031	0.0029	0.0036	0.0002	0	0	0	0	7.203e-06	0.0001	0	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	1.472e-05	0.0005	0	0.175	0.22400	T	0.279	0.21745	T	.	.	.	.	.	.	0.577025	0.11180	N	0.742908	1	0.08975	N	.	.	.	.	.	.	-2.92	0.61129	D	0.163	0.17140	-1.0296	0.20583	T	0.045	0.19518	T	9	0.008153498	0.00185	T	0.014217	0.34189	T	0.013	0.01715	.	.	0.15556083564	0.15200	0.41404819856553743	0.41320	0.12641451465	0.14248	.	.	.	0.152099	0.49235	T	-0.502892	0.00551	T	-0.497567	0.22601	T	0.00544741349122154	0.00059	T	0.310469	0.06505	T	0.10684638	0.25263	0.059875328	0.11311	0.10684638	0.25263	0.059875328	0.11311	-2.166	0.03879	T	.	.	0.073	0.11845	B	.;.;.	.;.;.	0.388815	0.07604	4.265	0.61861957920646227	0.06816	0.52799	0.29218	D	AEFDBI	0.216259	0.34153	N	-0.954937910276064	0.09582	0.45414	-0.977315587621505	0.10296	0.5176271	0.999963276029747	0.48965	0.695654	0.57023	0	0.844039	0.99811	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.06	0.687	0.17184	0.730000	0.25711	0.241000	0.16308	0.576000	0.29215	0.003000	0.16062	0.726000	0.26384	0.003000	0.05239	0.0:0.1416:0.2438:0.6146	3.681	0.07843	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	.	.	.	.	.	.	.	.	0.02632	652.33	39	chr19	1234618	.	T	G	652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=741;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.417;SOR=0.91	GT:AD:DP:GQ:PL	0/1:46,27:73:99:666,0,1263	18	0	1	0
chr19	1795939	1795939	G	A	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon18:c.C1850T:p.T617M,ATP8B3:NM_138813:exon18:c.C1991T:p.T664M	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0676295157387	.	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0001	8.41e-05	13	154602	rs757373346	7.05e-05	7.046e-05	6.265e-05	7.843e-05	0.0016	5.917e-05	5.525e-05	0.0008	0.0006	0	0.0003	3.826e-05	0	0	0.0016	5.936e-05	8.283e-05	0.0001	3.287e-05	3.941e-05	2.57e-05	4.039e-05	0.0004	1.261e-05	7.98e-06	7.296e-05	3.031e-05	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	0.075	0.34444	T	0.078	0.42261	T	1.0	0.90584	D	0.95	0.68788	D	0.053295	0.22821	N	0.473099	0.999997	0.08975	N	2.67	0.78151	M	-0.47	0.70133	T	-5.13	0.83224	D	0.225	0.25253	-0.5961	0.64975	T	0.405	0.75522	T	10	0.2116847	0.37604	T	0.06763	0.70222	D	0.332	0.65424	.	.	0.707702219508	0.70515	0.4329858221967207	0.43215	0.190693184596	0.21381	0.285608708858	0.08286	T	0.634087	0.88696	D	-0.224692	0.17356	T	-0.275817	0.47231	T	0.293730765581131	0.24745	T	0.905509	0.79675	D	0.07009288	0.15409	0.22497454	0.47427	0.07009288	0.15409	0.22497454	0.47426	-8.46	0.64164	D	.	.	0.100	0.17016	B	.;.	.;.	2.559353	0.33143	19.25	0.99440580940453349	0.64720	0.04000	0.09424	N	ALL	0.094226	0.19055	N	-0.251297565874947	0.31051	1.737364	-0.527552221901231	0.21407	1.157854	0.999999999880387	0.74766	0.520426	0.21595	0	0.596394	0.48810	0	0.658952	0.52864	0	0.825845	0.99933	0	.	.	4.58	-1.81	0.07456	0.308000	0.19071	2.184000	0.31153	0.672000	0.70159	0.042000	0.21073	0.990000	0.31317	0.750000	0.35786	0.3863:0.0:0.4813:0.1323	4.899	0.13121	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	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2197.33	95	chr19	1795939	.	G	A	2197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=1251;ExcessHet=0;FS=3.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.667;SOR=1.022	GT:AD:DP:GQ:PL	0/1:70,83:153:99:2211,0,1605	18	0	1	0
chr19	2290302	2290302	A	C	exonic	LINGO3	.	nonsynonymous SNV	LINGO3:NM_001101391:exon2:c.T1475G:p.F492C	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.335532705995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.405e-06	2.052e-06	0	2.831e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.69e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.31833	T	0.99	0.63424	D	0.91	0.64641	D	.	.	.	.	0.99999	0.58761	D	1.04	0.26193	L	-0.23	0.66652	T	.	.	.	0.787	0.78356	-0.3430	0.73756	T	0.363	0.72422	T	9	0.66417336	0.70328	D	0.335533	0.91871	D	.	.	0.235	0.16457	0.638853250657	0.63587	0.8203017024331187	0.81987	.	.	0.862846493721	0.91531	D	0.009462	0.08612	T	0.139831	0.68310	D	-0.0369188	0.67908	D	0.974688768386841	0.70612	D	0.933507	0.75104	D	0.20942226	0.43209	0.36549553	0.61897	0.20942226	0.43209	0.36549553	0.61897	-8.34	0.63364	D	.	.	0.971	0.89572	P	.	.	4.779689	0.77456	26.7	0.98807674491519459	0.46558	0.98350	0.81890	D	AEFDGBHCI	0.785197	0.71565	D	0.515819902182524	0.68024	5.161	0.482475069026533	0.66829	5.003331	0.999999999949865	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.11	4.11	0.47350	6.941000	0.75731	7.850000	0.70922	0.627000	0.51825	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.336	0.54392	982	0.03397	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1193.33	37	chr19	2290302	.	A	C	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=831;ExcessHet=0;FS=0.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=0.54;SOR=0.929	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1207,0,685	18	0	1	0
chr19	3543382	3543382	C	G	exonic	C19orf71	.	stopgain	C19orf71:NM_001135580:exon2:c.C231G:p.Y77X	.	420	1100	2	0	0	2	0.000908265	.	.	.	2815156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0030	0.0014	0.0033	0	0	0.0055	0	0.0015	0.001216	188	154602	rs201844208	0.0069	0.0066	0.0071	0.0067	0.0082	0.0068	0.0067	0.0081	0.0080	0.0012	0.0013	0.0018	0	0.0045	0.0015	0.0082	0.0055	0.0014	0.0042	0.0043	0.0044	0.0040	0.0077	0.0040	0.0038	0.0071	0.0069	0.0013	0	0.0015	0.0012	0	0.0028	0.0102	0.0077	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.205437	0.16495	N	0.503497	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166615	0.70812	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.217255	0.97307	37	0.99055611708715485	0.51367	0.26455	0.22998	N	AEFDGBCI	0.103062	0.20659	N	0.251927084596465	0.53734	3.541058	-0.010883720983877	0.39223	2.322317	0.999999790123246	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.29	4.29	0.50359	3.119000	0.50115	3.391000	0.38067	0.469000	0.21855	0.638000	0.28068	0.999000	0.35428	0.055000	0.15596	0.0:1.0:0.0:0.0	12.212	0.53694	934	0.15400	.	.	.	.	.	.	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	598.33	36	chr19	3543382	.	C	G	598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=685;ExcessHet=0;FS=5.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.67;SOR=0.243	GT:AD:DP:GQ:PL	0/1:27,24:51:99:612,0,716	18	0	1	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	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	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.1053	4201.43	34	chr19	3633475	.	C	T	4201.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.222;DP=936;ExcessHet=0.7564;FS=3.83;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.029;SOR=0.887	GT:AD:DP:GQ:PL	0/1:37,38:75:99:921,0,867	15	0	4	0
chr19	4013125	4013125	C	T	exonic	PIAS4	.	nonsynonymous SNV	PIAS4:NM_015897:exon2:c.C230T:p.P77L	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0143692912116	0.0007	0.000199681	0.0005	0.0002	0.0003	0	0.0002	0.0008	0	0.0002	0.0005175	80	154602	rs142623244	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	8.961e-05	0.0004	0	0	7.594e-05	0.0017	0.0007	0.0005	6.956e-05	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0005	0.0006	0.0006	0.0001	0.0385	0.0003	0	0	0	0.0068	0.0008	0	0.0002	0.141	0.25560	T	0.086	0.40909	T	0.081	0.24602	B	0.018	0.18489	B	0.007746	0.31217	N	0.363339	0.994748	0.42399	D	1.1	0.28011	L	1.41	0.33412	T	-1.43	0.35194	N	0.107	0.09207	-1.0888	0.05735	T	0.046	0.19599	T	10	0.005129069	0.00111	T	0.014369	0.34441	T	0.077	0.22490	.	.	0.278932316844	0.27492	0.4989567615131976	0.49816	0.732048271517	0.62766	0.407879471779	0.26164	T	0.154023	0.49512	T	-0.430703	0.01468	T	-0.450644	0.27625	T	0.0322830160578341	0.02352	T	0.873413	0.58193	D	0.045891844	0.07588	0.053772584	0.09122	0.045891844	0.07587	0.053772584	0.09121	-4.687	0.33246	T	.	.	0.063	0.01512	B	.	.	2.417713	0.31083	18.63	0.9610473025519477	0.28724	0.95692	0.65751	D	AEFBI	0.456644	0.50842	N	-0.352474580294949	0.27181	1.489256	-0.177516832081891	0.32366	1.840626	0.999934318713328	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	0.095000	0.14966	5.924000	0.51211	0.599000	0.40250	0.895000	0.31310	1.000000	0.68203	0.060000	0.15972	0.0:1.0:0.0:0.0	17.580	0.87865	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1768.33	35	chr19	4013125	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=845;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.649;SOR=1.086	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1782,0,1559	18	0	1	0
chr19	4428747	4428747	C	A	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon8:c.C1461A:p.F487L	.	416	1105	1	0	0	1	0.000452284	.	.	.	2428663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0113990590311	.	.	3.312e-05	0	8.666e-05	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs758852937	2.463e-05	2.463e-05	2.178e-05	2.75e-05	0.0009	1.803e-05	1.6e-05	0.0003	0.0002	5.974e-05	2.236e-05	0	0	0	0.0009	2.068e-05	8.279e-05	0	2.628e-05	2.627e-05	2.569e-05	2.689e-05	6.542e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.542e-05	0	0	0	0	4.41e-05	0	0	1.0	0.00964	T	0.319	0.19188	T	0.024	0.19075	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.875	0.21512	L	2.73	0.34648	T	0.64	0.02368	N	0.092	0.07125	-0.9657	0.38073	T	0.019	0.08173	T	9	0.069048375	0.09851	T	0.011399	0.28987	T	0.016	0.02506	0.255	0.19533	0.471275365318	0.46753	0.5247374738188536	0.52397	0.851093422288	0.68531	0.401512682438	0.25279	T	0.022402	0.17275	T	-0.386262	0.02843	T	-0.684958	0.06686	T	0.0232831870973777	0.01057	T	0.578742	0.21027	T	0.023104025	0.01023	0.06595395	0.13441	0.023104025	0.01023	0.06595395	0.13441	2.211	0.00043	T	.	.	0.625	0.69926	P	.;.	.;.	-1.374725	0.00379	0.007	0.48396287787501585	0.04035	0.35292	0.25268	N	AEFDBCI	0.121325	0.23593	N	-1.1591364834837	0.05631	0.2572209	-1.22420705049503	0.05523	0.2633902	0.148675366281945	0.17402	0.732398	0.92422	0	0.702456	0.74545	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.52	-3.71	0.04137	-2.603000	0.00964	-1.191000	0.06069	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1693:0.3511:0.4797	6.707	0.22443	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	34	chr19	4428747	.	C	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.458;DP=710;ExcessHet=0;FS=1.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.336;SOR=0.525	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1033,0,1196	18	0	1	0
chr19	5893042	5893042	C	A	exonic	NDUFA11	.	nonsynonymous SNV	NDUFA11:NM_001193375:exon4:c.G562T:p.A188S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00421595193407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.891e-06	2.736e-06	1.427e-06	4.395e-06	0.0004	6.8e-07	4.6e-07	6.169e-05	2.55e-05	0	0	0	0	0	0.0004	9.271e-07	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.744	0.04912	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	.	.	.	0.14	0.05405	N	0.091	0.06990	-1.0724	0.08894	T	0.039	0.16849	T	8	0.09466711	0.16850	T	0.004216	0.10153	T	0.059	0.16972	0.206	0.12216	0.0675242888579	0.06100	0.06436191787874951	0.06375	0.182580710226	0.20522	0.269853830338	0.06122	T	.	.	.	-0.169885	0.25250	T	-0.481804	0.24255	T	0.115448025572349	0.13980	T	0.252075	0.03833	T	.	.	.	.	.	.	.	.	-3.563	0.17324	T	.	.	0.104	0.18991	B	.	.	-0.044328	0.03985	0.902	0.98549074650693513	0.42820	0.03037	0.07925	N	AEFBCI	0.034015	0.04140	N	-0.841926999131923	0.12248	0.5959245	-1.03366313319228	0.09050	0.4481616	0.888775475942852	0.25797	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.645665	0.59343	0	.	.	0.789	0.789	0.17750	-1.780000	0.01872	-0.065000	0.12373	0.520000	0.23804	0.000000	0.06391	0.057000	0.21958	0.005000	0.06747	0.0:1.0:0.0:0.0	4.870	0.12987	911	0.21964	.	.	.	.	.	.	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	1566.33	35	chr19	5893042	.	C	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=837;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.802;SOR=0.82	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1580,0,1534	18	0	1	0
chr19	6732327	6732327	G	T	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon12:c.C1061A:p.A354D,GPR108:NM_020171:exon12:c.C335A:p.A112D	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0484465803341	.	0.000399361	7.504e-05	0	0	0	0	4.535e-05	0	0.0004	7.12e-05	11	154602	rs568270257	4.312e-05	4.309e-05	3.268e-05	5.366e-05	0.0007	3.444e-05	3.13e-05	0.0003	0.0003	0	4.472e-05	0	0	0	0.0007	1.259e-05	4.967e-05	0.0005	2.626e-05	2.624e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.008	0.59928	D	0.057	0.46406	T	0.738	0.42905	P	0.464	0.46572	P	0.000522	0.43581	N	0.087702	0.999984	0.54805	D	2.645	0.77386	M	1.86	0.24285	T	-4.17	0.78046	D	0.963	0.97317	-1.0412	0.16951	T	0.076	0.30553	T	10	0.72752273	0.74074	D	0.048447	0.63376	D	0.444	0.74657	0.868	0.96212	0.3349148499	0.33108	0.9663964036888415	0.96627	0.586748521879	0.54263	0.589259147644	0.51390	T	0.140245	0.47468	T	0.0203139	0.54423	T	0.107559	0.77412	D	0.374912202358246	0.27987	T	0.910809	0.79866	D	0.4927292	0.66665	0.6568227	0.79905	0.4927292	0.66666	0.6568227	0.79905	-12.965	0.89219	D	.	.	0.708	0.74017	P	.;.;.	.;.;.	5.013793	0.83284	28.0	0.99647565146145534	0.77068	0.97430	0.74700	D	AEFDGBI	0.818803	0.73997	D	0.173985029022567	0.49953	3.190114	0.178805078511809	0.48685	3.081291	0.999999999999568	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.8	3.8	0.42887	7.547000	0.81094	11.759000	0.95586	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	13.540	0.61128	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2258.33	37	chr19	6732327	.	G	T	2258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.121;DP=1087;ExcessHet=0;FS=4.613;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.678;SOR=0.757	GT:AD:DP:GQ:PL	0/1:78,83:161:99:2272,0,2165	18	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	98.21	133	chr19	8888076	.	G	A	98.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=1738;ExcessHet=0;FS=8.301;InbreedingCoeff=-0.1753;MLEAC=2;MLEAF=0.1;MQ=59.56;MQRankSum=-6.629;QD=1.17;ReadPosRankSum=-1.077;SOR=2.045	GT:AD:DP:GQ:PL	0/1:76,8:84:99:107,0,3155	9	0	1	9
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	105.98	126	chr19	8888087	.	A	G	105.98	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.48;DP=1674;ExcessHet=0.119;FS=18.536;InbreedingCoeff=-0.2073;MLEAC=3;MLEAF=0.15;MQ=59.53;MQRankSum=-5.897;QD=0.68;ReadPosRankSum=0;SOR=3.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,7:76:86:0|1:8888087_A_G:86,0,2870:8888087	8	0	2	9
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|1:247,54:349:99:0|1:8888826_T_*:1531,0,10205:8888826	2	0	17	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08824	625.48	36	chr19	8900001	.	C	T	625.48	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.6;DP=3191;ExcessHet=0.3672;FS=0.971;InbreedingCoeff=-0.1251;MLEAC=3;MLEAF=0.088;MQ=59.19;MQRankSum=-14.72;QD=0.84;ReadPosRankSum=1.2;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,16:225:43:0|1:8900000_C_T:43,0,8728:8900000	14	0	3	2
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|1:223,16:239:1:0|1:8900000_C_T:1,0,9289:8900000	5	0	14	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	313.92	116	chr19	8906310	.	C	G	313.92	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.262;DP=1349;ExcessHet=0.119;FS=17.506;InbreedingCoeff=-0.0791;MLEAC=2;MLEAF=0.056;MQ=58.71;MQRankSum=-11.47;QD=1.19;ReadPosRankSum=-3.465;SOR=1.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,15:130:99:0|1:8906306_G_A:284,0,4761:8906306	16	0	2	1
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	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	.	.	.	.	.	.	.	.	0.05556	367.59	128	chr19	8906323	.	G	A	367.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.412;DP=1411;ExcessHet=0.119;FS=9.405;InbreedingCoeff=-0.0705;MLEAC=2;MLEAF=0.056;MQ=58.81;MQRankSum=-11.82;QD=1.34;ReadPosRankSum=-1.33;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,17:132:99:0|1:8906306_G_A:368,0,4778:8906306	16	0	2	1
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	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	.	.	.	.	.	.	.	.	0.05556	393.17	129	chr19	8906325	.	A	C	393.17	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.968;DP=1423;ExcessHet=0.119;FS=7.52;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.028;MQ=58.8;MQRankSum=-11.77;QD=1.39;ReadPosRankSum=-1.235;SOR=1.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,18:135:99:0|1:8906306_G_A:404,0,4859:8906306	16	0	2	1
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	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	.	.	.	.	.	.	.	.	0.08333	477.91	132	chr19	8906329	.	A	G	477.91	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-0.176;DP=1435;ExcessHet=0.3672;FS=9.381;InbreedingCoeff=-0.101;MLEAC=3;MLEAF=0.083;MQ=58.71;MQRankSum=-11.86;QD=1.11;ReadPosRankSum=-1.861;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,19:135:99:0|1:8906306_G_A:449,0,4814:8906306	15	0	3	1
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-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	.	.	.	.	.	.	.	.	0.1111	309.13	41	chr19	9854801	.	G	C	309.13	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.882;DP=1786;ExcessHet=0.7564;FS=174.643;InbreedingCoeff=-0.138;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.25;SOR=10.646	GT:AD:DP:GQ:PL	0/1:68,30:98:99:121,0,1245	14	0	4	1
chr19	9960652	9960652	C	T	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon66:c.G5090A:p.R1697Q	.	.	.	.	.	.	.	.	0.0002	0.104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0465824539956	.	.	1.649e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs760411375	2.189e-05	2.189e-05	2.178e-05	2.2e-05	0.0001	1.584e-05	1.356e-05	4.358e-05	2.767e-05	2.987e-05	0.0001	0	0	0	0	2.248e-05	1.656e-05	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.551e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.551e-05	0	0	9.414e-05	0	0	0	0	0.515	0.07378	T	0.536	0.09897	T	0.271	0.31796	B	0.074	0.28220	B	0.000321	0.45977	U	0.089712	0.63665	0.30652	N	0.925	0.23481	L	-0.66	0.72348	T	-0.14	0.09135	N	0.11	0.09631	-0.9556	0.39988	T	0.111	0.39841	T	10	0.09802762	0.17696	T	0.046582	0.62527	D	0.060	0.17295	0.423	0.46693	0.501940320817	0.49831	0.47187657308248054	0.47106	0.400919444924	0.41090	0.264762610197	0.05471	T	0.021654	0.16823	T	-0.327332	0.06316	T	-0.438667	0.28958	T	0.0708151331983836	0.08764	T	0.818618	0.47570	T	0.05060377	0.09168	0.044912737	0.05925	0.05060377	0.09167	0.044912737	0.05924	-3.68	0.19023	T	.	.	0.077	0.06617	B	.	.	1.612952	0.20610	14.83	0.46726734052368885	0.03765	0.10287	0.15835	N	AEFDBI	0.273648	0.38901	N	-0.752806875664913	0.14558	0.7261424	-0.679997388502851	0.17462	0.9285768	0.101795238972516	0.16391	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.03	3.0	0.33773	0.029000	0.13555	.	.	0.595000	0.32841	0.088000	0.22533	0.949000	0.28973	0.225000	0.22599	0.0:0.7647:0.0:0.2353	5.846	0.17919	909	0.22467	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	.	.	.	.	.	.	.	.	0.02632	2454.33	39	chr19	9960652	.	C	T	2454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=847;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.074;SOR=0.808	GT:AD:DP:GQ:PL	0/1:74,93:167:99:2468,0,1727	18	0	1	0
chr19	15476293	15476293	G	A	exonic	PGLYRP2	.	nonsynonymous SNV	PGLYRP2:NM_001363546:exon2:c.C377T:p.A126V,PGLYRP2:NM_052890:exon2:c.C377T:p.A126V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0007	0.00459265	0.0015	0.0034	8.64e-05	0.0013	0	1.499e-05	0	0.0080	0.0014165	219	154602	rs147463355	0.0006	0.0006	0.0005	0.0008	0.0080	0.0006	0.0006	0.0075	0.0073	0.0030	6.708e-05	3.826e-05	0.0005	0	0.0005	1.169e-05	0.0020	0.0080	0.0011	0.0011	0.0009	0.0012	0.0100	0.0009	0.0009	0.0077	0.0069	0.0022	0	0.0003	0	0.0014	0	0.0068	2.941e-05	0.0014	0.0100	0.267	0.16198	T	0.376	0.16182	T	0.805	0.45210	P	0.083	0.29179	B	0.262376	0.15289	N	0.606658	0.99979	0.20372	N	1.38	0.34346	L	3.58	0.04594	T	0.05	0.06369	N	0.081	0.05670	-0.9682	0.37571	T	0.005	0.01542	T	10	0.009817749	0.00220	T	.	.	.	0.052	0.14661	.	.	0.281780670237	0.27795	0.3891274873621151	0.38827	0.165253988044	0.18640	0.297825783491	0.10077	T	0.066628	0.32993	T	-0.677683	0.00049	T	-0.740671	0.03862	T	0.00720817760817761	0.00083	T	0.709529	0.32820	T	0.022326076	0.00887	0.036124084	0.02998	0.022326076	0.00887	0.036124084	0.02997	-4.401	0.29921	T	.	.	0.100	0.26232	B	.;.;.	.;.;.	0.654883	0.10233	6.970	0.97607427685364301	0.34887	0.08873	0.14736	N	AEFDBI	0.127332	0.24465	N	-0.569853038469496	0.19865	1.043025	-0.618128734324917	0.19028	1.019094	4.07183730508838E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	2.79	0.31792	1.424000	0.34456	.	.	-0.126000	0.13398	0.016000	0.19238	0.000000	0.08366	0.185000	0.21450	0.2253:0.0:0.7747:0.0	6.726	0.22545	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2166.33	33	chr19	15476293	.	G	A	2166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=1312;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.143;SOR=0.803	GT:AD:DP:GQ:PL	0/1:80,78:158:99:2180,0,1925	18	0	1	0
chr19	17022059	17022059	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon2:c.C215T:p.P72L	Anterior segement dysgenesis 8, Autosomal recessive	430	1091	1	0	0	1	0.000458085	.	.	.	2109366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	8.2e-05	0.00339457	0.0030	0	0.0003	0.0150	0.0195	0.0012	0.0071	0.0009	0.0017658	273	154602	rs142714688	0.0010	0.0010	0.0010	0.0009	0.0109	0.0009	0.0009	0.0100	0.0097	6.007e-05	6.82e-05	3.87e-05	0.0109	0.0110	0	0.0002	0.0012	0.0009	0.0014	0.0014	0.0009	0.0020	0.0106	0.0013	0.0012	0.0084	0.0076	2.405e-05	0	0.0002	0.0003	0.0106	0.0125	0	0.0002	0.0014	0.0012	0.052	0.39097	T	0.044	0.49663	D	.	.	.	.	.	.	0.042827	0.23801	U	0.312151	0.701201	0.33423	D	.	.	.	1.48	0.50976	T	-1.76	0.41618	N	0.151	0.15888	-0.9996	0.30030	T	0.053	0.22307	T	10	0.007766813	0.00176	T	.	.	.	0.037	0.09474	.	.	0.333651784274	0.32972	.	.	0.147516946697	0.16644	0.394249379635	0.24267	T	0.028475	0.20618	T	-0.579013	0.00195	T	-0.596527	0.13106	T	0.0236743177015623	0.01104	T	0.729427	0.34485	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.648419	0.21035	15.02	0.21759784567221094	0.00844	0.57618	0.30424	D	AEFDGBCI	0.173904	0.30101	N	-0.664732660749739	0.17033	0.8730259	-0.74310330851006	0.15892	0.8380732	0.999536543361257	0.40238	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.526803	0.08958	0	.	.	3.06	0.832	0.18002	2.060000	0.41020	0.045000	0.13922	-0.192000	0.09343	0.988000	0.36536	0.002000	0.18203	0.002000	0.04165	0.2196:0.0:0.7804:0.0	7.587	0.27163	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002543	0.000000	0.000000	0.000000	0.000000	0.008621	0.006250	0.007634	0.02632	550.33	34	chr19	17022059	.	G	A	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.733;SOR=0.58	GT:AD:DP:GQ:PL	0/1:19,22:41:99:564,0,388	18	0	1	0
chr19	18444857	18444857	G	C	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon12:c.C1761G:p.N587K	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0434998648516	.	0.000599042	0.0005	0	0.0002	0	0	7.602e-05	0	0.0029	0.0003687	57	154602	rs568878298	0.0002	0.0002	8.864e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0	6.713e-05	0.0003	0	0	0.0006	1.889e-05	3.318e-05	0.0029	0.0001	0.0001	7.706e-05	0.0001	0.0021	6.505e-05	5.317e-05	0.0011	0.0009	0	0	0	0.0006	0	0	0	4.41e-05	0.0005	0.0021	0.006	0.61437	D	0.042	0.63109	D	0.995	0.67487	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.02	0.55341	M	1.98	0.21865	T	-3.53	0.68532	D	0.358	0.51226	-1.1041	0.03630	T	0.090	0.34518	T	10	0.014342755	0.00302	T	0.043	0.61013	D	0.109	0.30843	0.418	0.45873	0.584147545485	0.58087	0.19120281255201146	0.19038	0.863994206934	0.69109	0.730985343456	0.71649	T	0.238891	0.60688	T	-0.483543	0.00705	T	-0.471344	0.25371	T	0.158863580638249	0.17787	T	0.871113	0.60854	D	0.6056391	0.72994	0.47900754	0.69822	0.6056391	0.72995	0.47900754	0.69822	-10.886	0.79029	D	.	.	0.257	0.66138	B	.;.	.;.	4.259945	0.64735	24.7	0.99742601368468353	0.83629	0.92790	0.56552	D	AEFBI	0.402440	0.47652	N	0.186306658775754	0.50543	3.243178	0.153296743359521	0.47318	2.963731	0.999580058944541	0.40607	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.87	2.66	0.30672	2.170000	0.42071	5.781000	0.49805	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1477:0.0:0.8523:0.0	10.171	0.42084	958	0.09170	Occludin homology domain;Occludin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1009.33	35	chr19	18444857	.	G	C	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=708;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.342;SOR=0.602	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1023,0,1006	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	0/1:5,8:13:99:219,0,100	16	0	2	1
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	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	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,26:157:99:0|1:21383168_A_G:697,0,5422:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-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	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,22:151:99:0|1:21383168_A_G:535,0,5350:21383168	9	0	8	2
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,19:155:99:0|1:21383168_A_G:388,0,5653:21383168	13	0	6	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,19:158:99:0|1:21383168_A_G:379,0,5779:21383168	12	0	6	1
chr19	21383216	21383216	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A670G:p.I224V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297183634	6.926e-07	3.424e-05	0	1.391e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	6.679e-06	0.0003	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-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	.	.	.	.	.	.	.	.	0.08333	332.92	169	chr19	21383216	.	A	G	332.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.1;DP=1565;ExcessHet=0.3672;FS=37.063;InbreedingCoeff=-0.1015;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-11.79;QD=0.72;ReadPosRankSum=0.612;SOR=5.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:21383168_A_G:124,0,5839:21383168	15	0	3	1
chr19	21383222	21383222	C	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.C676A:p.H226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370539829	0	2.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.693e-06	0.0003	1.307e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-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	.	.	.	.	.	.	.	.	0.08333	152.97	171	chr19	21383222	.	C	A	152.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=3.2;DP=1552;ExcessHet=0.3672;FS=31.329;InbreedingCoeff=-0.1029;MLEAC=3;MLEAF=0.083;MQ=58.96;MQRankSum=-11.74;QD=0.33;ReadPosRankSum=-0.962;SOR=4.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,11:153:34:0|1:21383168_A_G:34,0,5929:21383168	15	0	3	1
chr19	35849604	35849604	A	C	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon6:c.T658G:p.S220A	Nephrotic syndrome, type 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	274359	not_provided|NPHS1-related_disorder|Congenital_nephrotic_syndrome|Finnish_congenital_nephrotic_syndrome	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.537	0.156696894926	0.0016	0.000199681	0.0011	0.0002	0.0009	0	0.0002	0.0018	0	0	0.001119	173	154602	rs115333628	0.0016	0.0016	0.0017	0.0015	0.0019	0.0015	0.0015	0.0019	0.0018	0.0004	0.0006	0.0023	0	9.365e-05	0.0010	0.0019	0.0012	1.159e-05	0.0011	0.0011	0.0013	0.0009	0.0020	0.0010	0.0009	0.0017	0.0016	0.0002	0	0.0005	0.0035	0	9.423e-05	0.0068	0.0020	0.0009	0	0.231	0.18246	T	0.295	0.20680	T	0.673	0.41222	P	0.186	0.36104	B	0.143043	0.18223	N	0.592407	0.999997	0.08975	N	2.135	0.59519	M	-1.12	0.77593	T	-1.1	0.28497	N	0.639	0.80473	-0.7710	0.56803	T	0.245	0.61424	T	10	0.10821137	0.20134	T	0.156697	0.83742	D	0.537	0.80605	.	.	0.816173361753	0.81444	0.3772291070202999	0.37637	0.220917606323	0.24639	0.355771660805	0.18769	T	0.436485	0.78285	T	-0.212735	0.18997	T	-0.0774019	0.65094	T	0.0103546974769732	0.00142	T	0.49605	0.15399	T	0.12737411	0.29809	0.14011462	0.33410	0.111889854	0.26437	0.09928348	0.23700	-5.232	0.39326	T	0.17837519806783886	0.22857	0.086	0.13032	B	.;.	.;.	1.916117	0.24334	16.36	0.7888672904979388	0.12496	0.07832	0.13826	N	AEFBI	0.153198	0.27802	N	-0.189794232009891	0.33557	1.905232	-0.190362147597525	0.31890	1.809013	0.00260560351062499	0.09566	0.580535	0.33130	0	0.573078	0.20572	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.53	3.32	0.37134	1.569000	0.36037	7.810000	0.69404	0.683000	0.82448	0.298000	0.25306	1.000000	0.68203	0.054000	0.15518	0.6164:0.0:0.1829:0.2007	2.915	0.05395	792	0.45996	CD80-like, immunoglobulin C2-set;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1224.33	33	chr19	35849604	.	A	C	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.576;SOR=0.669	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1238,0,1355	18	0	1	0
chr19	35850409	35850409	T	A	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon5:c.A563T:p.N188I	Nephrotic syndrome, type 1, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	266609	Finnish_congenital_nephrotic_syndrome|NPHS1-related_disorder|not_specified|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.172800029807	0.0070	0.00399361	0.0062	0.0014	0.0035	0	0.0023	0.0086	0.0088	0.0061	0.0063841	987	154602	rs145125791	0.0082	0.0082	0.0083	0.0081	0.0099	0.0081	0.0080	0.0093	0.0092	0.0013	0.0049	0.0022	2.519e-05	0.0031	0.0099	0.0094	0.0078	0.0054	0.0060	0.0060	0.0058	0.0062	0.0096	0.0057	0.0056	0.0089	0.0087	0.0018	0	0.0073	0.0023	0	0.0017	0.0136	0.0096	0.0085	0.0064	0.558	0.14945	T	0.002	0.79402	D	0.573	0.38659	P	0.345	0.42592	B	0.024644	0.26225	N	0.426594	0.999748	0.20516	N	1.725	0.44537	L	-1.02	0.76300	T	-1.07	0.27876	N	0.79	0.91505	-0.7899	0.55735	T	0.250	0.62004	T	10	0.025585592	0.00748	T	0.173	0.84967	D	0.254	0.56428	.	.	0.825841296263	0.82418	0.5267772119014899	0.52601	0.440271085869	0.44040	0.498971521854	0.38684	T	0.298959	0.67150	T	-0.373424	0.03424	T	-0.301212	0.44596	T	0.00483326277362372	0.00052	T	0.787021	0.42574	T	0.22393212	0.45025	0.13637835	0.32626	0.23267217	0.46059	0.15676485	0.36687	-3.252	0.13126	T	0.10269732560657087	0.07837	0.133	0.34316	B	.;.	.;.	1.361850	0.17710	13.32	0.96442349684974671	0.29834	0.52689	0.29191	D	AEFBI	0.131456	0.25040	N	-0.314588505378988	0.28593	1.578398	-0.376324948255399	0.25704	1.415224	0.00116509568243458	0.08293	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.542086	0.14980	0	.	.	4.31	2.23	0.27189	0.514000	0.22492	2.022000	0.30213	0.609000	0.47794	0.522000	0.27127	0.994000	0.32194	0.223000	0.22544	0.0:0.2369:0.0:0.7631	5.104	0.14109	783	0.47268	CD80-like, immunoglobulin C2-set;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.004076	0.000000	0.050000	0.008621	0.006098	0.003788	0.02632	1145.33	33	chr19	35850409	.	T	A	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.654;DP=733;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.446;SOR=0.437	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1159,0,1109	18	0	1	0
chr19	36141123	36141134	GGCGGCGGCGGC	-	exonic	CAPNS1	.	nonframeshift deletion	CAPNS1:NM_001003962:exon2:c.112_123del:p.G53_G56del,CAPNS1:NM_001302632:exon2:c.112_123del:p.G53_G56del,CAPNS1:NM_001749:exon2:c.112_123del:p.G53_G56del	.	341	1091	68	7	15	97	0.0362191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0037	0	0	0	0.0011	0	0.0004	0.0003428	53	154602	rs760260559	0.0013	0.0012	0.0013	0.0013	0.0073	0.0012	0.0012	0.0064	0.0061	0.0073	0.0025	6.052e-05	0.0009	0.0002	0.0040	0.0012	0.0018	0.0009	0.0026	0.0026	0.0028	0.0024	0.0067	0.0024	0.0023	0.0060	0.0058	0.0067	0	0.0008	0	0.0014	0.0003	0.0036	0.0012	0.0029	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	552.78	23	chr19	36141122	.	GGGCGGCGGCGGC	G	552.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=595;ExcessHet=0.119;FS=1.432;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.954;SOR=0.379	GT:AD:DP:GQ:PL	0/1:22,14:36:99:514,0,882	18	0	1	0
chr19	36515163	36515163	G	T	exonic	ZNF260	.	nonsynonymous SNV	ZNF260:NM_001375596:exon2:c.C76A:p.P26T,ZNF260:NM_001166037:exon3:c.C76A:p.P26T,ZNF260:NM_001166038:exon3:c.C76A:p.P26T,ZNF260:NM_001012756:exon4:c.C76A:p.P26T,ZNF260:NM_001166036:exon4:c.C76A:p.P26T,ZNF260:NM_001375597:exon4:c.C76A:p.P26T,ZNF260:NM_001375598:exon4:c.C76A:p.P26T	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0161693882789	.	.	1.668e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs185835535	4.517e-05	4.515e-05	4.358e-05	4.679e-05	0.0007	3.643e-05	3.323e-05	0.0002	0.0001	0	2.24e-05	0	0	0	0.0007	3.779e-05	0.0001	0.0001	3.944e-05	3.941e-05	3.855e-05	4.037e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.013	0.53900	D	0.005	0.72224	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.995903	0.23169	N	2.33	0.66821	M	1.59	0.28836	T	-4.5	0.78135	D	0.065	0.03841	-0.9590	0.39368	T	0.075	0.30210	T	9	0.07742572	0.12217	T	0.016169	0.37293	T	0.063	0.18251	.	.	0.248417906384	0.24464	0.07242795703977072	0.07179	0.114773647323	0.12943	0.226711019874	0.01733	T	0.230659	0.59678	T	-0.402499	0.02230	T	-0.612339	0.11795	T	0.100067644944883	0.12365	T	0.113689	0.00866	T	0.11288698	0.26666	0.095318064	0.22600	0.11288698	0.26665	0.095318064	0.22599	-6.56	0.50747	T	.	.	0.084	0.09820	B	.;.;.;.	.;.;.;.	1.449740	0.18706	13.88	0.91621967688475381	0.20907	0.24267	0.22340	N	AEFGBCI	0.114723	0.22585	N	-0.801143529766088	0.13281	0.6531519	-0.920897669575921	0.11602	0.5920386	0.0140047679361678	0.12540	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.19	-0.88	0.10073	1.582000	0.36177	.	.	0.662000	0.56354	0.900000	0.31427	0.000000	0.08366	0.031000	0.13245	0.0828:0.1442:0.4942:0.2788	3.964	0.08918	509	0.75304	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	1006.33	36	chr19	36515163	.	G	T	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.224;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.199;SOR=0.634	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1020,0,998	18	0	1	0
chr19	37363516	37363516	C	T	exonic	ZNF875	.	nonsynonymous SNV	ZNF875:NM_001329773:exon4:c.C1541T:p.A514V,ZNF875:NM_001329776:exon4:c.C1538T:p.A513V,ZNF875:NM_001329761:exon5:c.C1667T:p.A556V,ZNF875:NM_001329762:exon5:c.C1667T:p.A556V,ZNF875:NM_001329764:exon5:c.C1664T:p.A555V,ZNF875:NM_001329768:exon5:c.C1625T:p.A542V,ZNF875:NM_001329769:exon5:c.C1622T:p.A541V,ZNF875:NM_001329779:exon5:c.C1379T:p.A460V,ZNF875:NM_001353803:exon5:c.C1664T:p.A555V,ZNF875:NM_001329772:exon6:c.C1541T:p.A514V,ZNF875:NM_001329775:exon6:c.C1538T:p.A513V,ZNF875:NM_001329777:exon6:c.C1538T:p.A513V,ZNF875:NM_001329778:exon6:c.C1538T:p.A513V,ZNF875:NM_181786:exon6:c.C1721T:p.A574V,ZNF875:NM_001329766:exon7:c.C1649T:p.A550V,ZNF875:NM_001329771:exon7:c.C1541T:p.A514V,ZNF875:NM_001329774:exon7:c.C1538T:p.A513V,ZNF875:NM_001329763:exon8:c.C1664T:p.A555V,ZNF875:NM_001329765:exon8:c.C1649T:p.A550V,ZNF875:NM_001329767:exon8:c.C1646T:p.A549V,ZNF875:NM_001329770:exon8:c.C1607T:p.A536V	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00168717853437	0.0006	0.000798722	0.0007	0	0.0007	0	0	0.0012	0	0.0001	0.0006986	108	154602	rs142002230	0.0005	0.0005	0.0004	0.0005	0.0057	0.0004	0.0004	0.0042	0.0037	0.0002	0.0007	0.0081	0	0	0.0057	0.0003	0.0012	0.0002	0.0005	0.0005	0.0004	0.0005	0.0009	0.0004	0.0004	0.0006	0.0004	2.408e-05	0	0.0009	0.0075	0	0	0.0102	0.0004	0.0009	0.0002	0.208	0.31088	T	0.161	0.31326	T	0.006	0.20242	B	0.036	0.22909	B	.	.	.	.	1	0.81001	D	-0.82	0.01544	N	2.55	0.13795	T	0.5	0.04091	N	0.052	0.06322	-0.9872	0.33298	T	0.012	0.04463	T	9	0.0049036443	0.00105	T	0.001687	0.02805	T	0.075	0.21907	.	.	0.245101548738	0.24120	0.01845186416152454	0.01799	0.156914537164	0.17716	0.586216807365	0.50961	T	0.017911	0.21597	T	-0.517712	0.00454	T	-0.616134	0.11492	T	0.0442445513207123	0.04464	T	0.653235	0.32735	T	0.07077461	0.15617	0.103951916	0.24954	0.07077461	0.15617	0.103951916	0.24953	-4.112	0.27612	T	.	.	0.103	0.35931	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348115	0.30101	18.33	0.99874996340096978	0.95244	0.03021	0.07899	N	AEFBI	0.040740	0.06102	N	-0.75442341873397	0.14513	0.7235711	-0.618406992337968	0.19021	1.01869	0.998718508239538	0.37518	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.58	2.58	0.30011	0.044000	0.13876	.	.	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	1.000000	0.97212	0.0:0.8659:0.0:0.1341	7.295	0.25561	689	0.59000	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.002924	0.000000	0.025862	0.003049	0.000000	0.02632	2103.33	35	chr19	37363516	.	C	T	2103.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.46;DP=1319;ExcessHet=0;FS=5.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.663;SOR=0.369	GT:AD:DP:GQ:PL	0/1:74,81:155:99:2117,0,2070	18	0	1	0
chr19	37537681	37537681	C	A	exonic	ZNF793	.	stopgain	ZNF793:NM_001013659:exon8:c.C1023A:p.C341X	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.03558	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.282	0.31925	.	.	.	.	.	.	.	0.3358653	0.50737	T	.	.	.	.	.	.	.	0.76091865128	0.75874	.	.	.	.	.	.	.	.	.	.	0.362076	0.87411	D	0.282321	0.87249	D	.	.	.	0.249775	0.03753	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.49137	B	.	.	6.527795	0.95354	34	0.98747056642556352	0.45602	0.12884	0.17537	N	AEFGBHCI	0.124942	0.24123	N	0.0102872040875392	0.42323	2.547837	-0.31542316327207	0.27600	1.532665	1.09398434326163E-4	0.05123	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.13	-3.1	0.04991	-0.742000	0.04955	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.781000	0.36947	0.0:0.3912:0.0:0.6088	10.352	0.43124	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	868.33	41	chr19	37537681	.	C	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=706;ExcessHet=0;FS=6.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.465;SOR=1.221	GT:AD:DP:GQ:PL	0/1:47,32:79:99:882,0,1254	18	0	1	0
chr19	37885954	37885954	G	A	exonic	WDR87	.	stopgain	WDR87:NM_001291088:exon6:c.C7717T:p.R2573X,WDR87:NM_031951:exon6:c.C7600T:p.R2534X	.	426	1087	9	0	0	9	0.00412277	.	.	.	1630796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0007	0.000998403	0.0017	0	0	0	0	0.0030	0	0.0013	0.000401	62	154602	rs142857310	0.0006	0.0006	0.0006	0.0007	0.0079	0.0006	0.0006	0.0061	0.0054	0.0003	0.0012	0.0079	8.394e-05	2.02e-05	0.0079	0.0004	0.0014	0.0009	0.0006	0.0006	0.0005	0.0007	0.0019	0.0005	0.0005	0.0010	0.0007	7.218e-05	0	0.0012	0.0075	0.0002	0	0.0136	0.0004	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0660006	0.60358	T	0.271588	0.86661	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	Low;.	7.100861	0.96141	35	0.97014068788083707	0.31997	0.02753	0.07439	N	AEFDBI	0.059418	0.11222	N	-0.337948591625169	0.27717	1.523002	-0.728047669585888	0.16264	0.8595468	1.77257058903467E-4	0.05786	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.14	-2.33	0.06340	0.045000	0.13898	.	.	0.676000	0.76740	0.004000	0.16614	0.000000	0.08366	0.255000	0.23391	0.0:0.0:0.2862:0.7138	12.882	0.57412	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009926	0.005319	0.000000	0.017699	0.000000	0.041667	0.011628	0.000000	0.02632	2419.33	85	chr19	37885954	.	G	A	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=1350;ExcessHet=0;FS=0.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.221;SOR=0.782	GT:AD:DP:GQ:PL	0/1:90,92:182:99:2433,0,2228	18	0	1	0
chr19	38081727	38081727	-	GCCACC	exonic	SIPA1L3	.	nonframeshift insertion	SIPA1L3:NM_015073:exon3:c.162_163insGCCACC:p.T64_T65insAT	.	0	220	6	0	0	6	0.0134529	.	.	.	716407	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0017	0.00958466	0.0025	0.0002	0.0030	0.0120	0.0003	0.0017	0.0032	0.0025	0.0012679	33	26028	rs569252662	0.0061	0.0063	0.0063	0.0060	0.0440	0.0060	0.0060	0.0422	0.0415	0.0019	0.0150	0.0272	0.0440	0.0028	0.0262	0.0041	0.0106	0.0041	0.0078	0.0079	0.0076	0.0081	0.0646	0.0075	0.0073	0.0589	0.0567	0.0017	0	0.0160	0.0291	0.0646	0.0044	0.0238	0.0050	0.0099	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1098.29	34	chr19	38081727	.	G	GGCCACC	1098.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.072;DP=701;ExcessHet=0;FS=4.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.12;ReadPosRankSum=0.074;SOR=0.255	GT:AD:DP:GQ:PL	0/1:23,29:52:99:1112,0,833	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	0/1:62,49:111:99:1223,0,1529	15	0	4	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	0|1:23,15:38:99:0|1:40667975_C_T:533,0,851:40667975	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	0|1:23,15:38:99:0|1:40667975_C_T:533,0,851:40667975	1	7	11	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox 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	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,12:81:8:.:.:8,0,1471:.	9	0	7	3
chr19	42323788	42323788	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon14:c.C1442T:p.S481F,TMEM145:NM_173633:exon14:c.C1400T:p.S467F	.	392	1117	11	2	0	15	0.00666963	0.0090	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0962297514473	0.0016	0.000998403	0.0027	0.0006	0.0007	0	0.0056	0.0040	0.0045	0.0004	0.0027619	427	154602	rs141686253	0.0036	0.0036	0.0036	0.0035	0.0052	0.0035	0.0034	0.0040	0.0039	0.0007	0.0009	0.0026	0	0.0056	0.0052	0.0041	0.0024	0.0006	0.0025	0.0025	0.0026	0.0025	0.0038	0.0023	0.0022	0.0034	0.0032	0.0009	0	0.0013	0.0029	0	0.0053	0.0068	0.0038	0.0014	0.0002	0.006	0.61437	D	0.014	0.62352	D	0.172	0.28767	B	0.125	0.32635	B	0.415242	0.12942	N	0.677448	0.810001	0.29012	N	0	0.06538	N	0.86	0.46777	T	-1.55	0.37566	N	0.366	0.40765	-0.9469	0.41498	T	0.070	0.28544	T	10	0.0069538653	0.00158	T	0.09623	0.76566	D	0.040	0.10527	.	.	0.191931220699	0.18833	0.3538110497844103	0.35295	0.600012020098	0.55096	0.663295865059	0.61880	T	0.034469	0.23334	T	-0.47633	0.00777	T	-0.457272	0.26896	T	0.0311196801736275	0.02166	T	0.513749	0.16498	T	0.2865471	0.51669	0.17153054	0.39343	0.2865471	0.51669	0.17153054	0.39342	-4.496	0.30836	T	.	.	0.160	0.35310	B	.	.	3.826002	0.55270	23.6	0.98745400906206238	0.45572	0.83226	0.42361	D	AEFBCI	0.373470	0.45873	N	-0.226767731109904	0.32038	1.802689	-0.141023028037288	0.33756	1.934259	0.99875946470281	0.37602	0.72623	0.87236	0	0.627178	0.54094	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	3.83	1.46	0.21769	1.075000	0.30328	4.307000	0.42958	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.5457:0.4543:0.0	9.586	0.38684	555	0.71762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.016304	0.008772	0.000000	0.000000	0.009146	0.000000	0.02632	955.33	43	chr19	42323788	.	C	T	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.352;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.39;SOR=0.835	GT:AD:DP:GQ:PL	0/1:29,38:67:99:969,0,732	18	0	1	0
chr19	44175928	44175932	ATCTT	-	exonic	ZNF226	.	stopgain	ZNF226:NM_001032372:exon6:c.666_670del:p.S223*,ZNF226:NM_001032373:exon6:c.666_670del:p.S223*,ZNF226:NM_001319088:exon6:c.666_670del:p.S223*,ZNF226:NM_001319090:exon6:c.666_670del:p.S223*,ZNF226:NM_001319089:exon7:c.666_670del:p.S223*,ZNF226:NM_016444:exon7:c.666_670del:p.S223*	.	427	1090	4	1	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0005	0	0	0	0	6.035e-05	0.0011	0.0037	0.0004786	74	154602	rs533087898	0.0003	0.0003	0.0001	0.0004	0.0032	0.0002	0.0002	0.0029	0.0027	0	0	0	0	1.876e-05	0	6.927e-05	0.0002	0.0032	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0029	0.0025	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2452.29	33	chr19	44175927	.	AATCTT	A	2452.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=762;ExcessHet=0;FS=6.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.934;SOR=1.218	GT:AD:DP:GQ:PL	0/1:71,64:135:99:2466,0,2781	18	0	1	0
chr19	44635421	44635421	G	A	exonic	IGSF23	.	nonsynonymous SNV	IGSF23:NM_001205280:exon4:c.G566A:p.G189E	.	427	1094	1	0	0	1	0.00045683	.	.	.	2443601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00619374248904	.	.	0.0004	0	0	0	0	0	0	0.0008	5.17e-05	8	154602	rs766332836	7.589e-05	7.251e-05	5.086e-05	0.0001	0.0021	6.398e-05	5.965e-05	0.0012	0.0010	0	2.804e-05	0	0	0	0.0021	2.875e-05	8.624e-05	0.0007	9.212e-05	9.193e-05	5.149e-05	0.0001	0.0015	5.535e-05	4.37e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.082	0.33254	T	0.411	0.14500	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.83	0.47815	T	0.66	0.02297	N	0.141	0.14054	-1.0431	0.16383	T	0.056	0.23602	T	9	0.017274976	0.00368	T	0.006194	0.16229	T	0.025	0.05312	0.322	0.30226	0.110078149338	0.10416	0.039511617974538074	0.03897	.	.	0.261807858944	0.05108	T	0.007754	0.07136	T	-0.459308	0.00993	T	-0.53563	0.18728	T	0.0164551339437598	0.00411	T	0.406259	0.10435	T	0.07462498	0.16760	0.08137239	0.18488	0.07462498	0.16759	0.08137239	0.18487	-3.788	0.20625	T	.	.	0.103	0.18331	B	.	.	0.626214	0.09948	6.703	0.98287202203487056	0.39916	0.00243	0.01347	N	AEFBI	0.037412	0.05142	N	-1.19593678664079	0.05061	0.2298614	-1.28902698233912	0.04578	0.2162607	0.999878610871229	0.44625	0.653281	0.48532	0	0.573888	0.26702	0	0.547309	0.15389	0	0.669	0.65921	0	.	.	3.01	-2.97	0.05195	-0.789000	0.04714	.	.	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.5984:0.0:0.4016:0.0	7.480	0.26567	764	0.49969	.	.	.	.	.	.	Likely benign	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	0.001250	0.000000	0.000000	0.000000	0.000000	0.000000	0.005814	0.000000	0.02632	537.33	40	chr19	44635421	.	G	A	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.442;DP=754;ExcessHet=0;FS=1.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.019;SOR=0.806	GT:AD:DP:GQ:PL	0/1:29,24:53:99:551,0,712	18	0	1	0
chr19	44781238	44781238	C	T	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon3:c.C532T:p.L178F,CBLC:NM_012116:exon3:c.C532T:p.L178F	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	.	0.0045	0.00778754	0.0022	0.0147	0.0010	0	0	0.0002	0.0011	0.0055	0.0021798	337	154602	rs114569424	0.0010	0.0010	0.0008	0.0012	0.0164	0.0009	0.0009	0.0152	0.0148	0.0164	0.0010	0	0	1.883e-05	0.0028	0.0002	0.0014	0.0055	0.0045	0.0045	0.0047	0.0042	0.0145	0.0042	0.0041	0.0135	0.0131	0.0145	0	0.0020	0	0	0	0	0.0002	0.0052	0.0046	0.45	0.08996	T	0.263	0.22828	T	0.99	0.63424	D	0.729	0.55225	P	0.959896	0.08231	N	0.976806	1	0.08975	N	2.3	0.65703	M	-2.23	0.87116	D	-1.39	0.34397	N	0.226	0.29081	-0.5487	0.66836	T	0.369	0.72872	T	10	0.010510981	0.00233	T	.	.	.	0.209	0.49871	.	.	0.890559354681	0.88947	0.25200479408268567	0.25114	0.930430797109	0.71797	0.433112502098	0.29634	T	0.434227	0.78138	T	-0.417453	0.01776	T	-0.359445	0.38116	T	0.0143379591340892	0.00286	T	0.728627	0.34357	T	0.1595048	0.35826	0.09005935	0.21097	0.1595048	0.35826	0.09005935	0.21096	-10.251	0.76085	D	.	.	0.171	0.37558	B	.;.;.	.;.;.	1.958306	0.24878	16.56	0.99690173857100084	0.79909	0.07527	0.13541	N	AEFDBI	0.125851	0.24254	N	-0.308422200486603	0.28826	1.593326	-0.480235889859042	0.22698	1.234181	0.998721995234562	0.37539	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	3.95	1.72	0.23498	1.245000	0.32393	.	.	0.529000	0.24592	0.002000	0.15269	0.002000	0.18203	0.639000	0.32395	0.1838:0.4585:0.3578:0.0	7.232	0.25221	628	0.65206	Adaptor protein Cbl, EF hand-like|Adaptor protein Cbl, PTB domain;.;Adaptor protein Cbl, EF hand-like|Adaptor protein Cbl, PTB 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	0.005539	0.005051	0.006812	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1724.33	36	chr19	44781238	.	C	T	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.312;DP=763;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.038;SOR=0.866	GT:AD:DP:GQ:PL	0/1:37,66:103:99:1738,0,880	18	0	1	0
chr19	45409047	45409047	C	T	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.C1085T:p.P362L,POLR1G:NM_012099:exon3:c.C1079T:p.P360L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00411795089726	.	.	8.306e-06	0	8.648e-05	0	0	0	0	0	6.5e-06	1	154602	rs764743323	1.368e-06	1.368e-06	2.722e-06	0	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.04548	T	0.125	0.35455	T	0.0	0.07471	B	0.001	0.06944	B	0.094852	0.02491	N	2.084360	1	0.08975	N	1.01	0.25309	L	2.69	0.12473	T	-2.77	0.58733	D	0.062	0.04307	-1.0244	0.22279	T	0.016	0.06569	T	10	0.031610817	0.01298	T	0.004118	0.09869	T	0.033	0.08068	0.125	0.03095	0.0482279557977	0.04254	0.029526640245192717	0.02901	0.160340197242	0.18093	0.249185532331	0.03682	T	0.080865	0.36464	T	-0.519024	0.00446	T	-0.807472	0.01723	T	0.0519084737306313	0.05832	T	0.539746	0.18256	T	0.031241355	0.02928	0.040624917	0.04433	0.031241355	0.02928	0.040624917	0.04432	-2.534	0.06018	T	.	.	0.069	0.04477	B	.;.	.;.	-1.305223	0.00434	0.009	0.64888064012202662	0.07618	0.05986	0.11948	N	AEFBCI	.	.	.	-1.54134224842636	0.01585	0.06928569	-1.67426712893245	0.01256	0.0565879	0.999999951865667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.99	-9.99	0.00358	-2.205000	0.01316	-3.541000	0.02709	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3236:0.1183:0.4315:0.1266	4.339	0.10541	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1434.33	60	chr19	45409047	.	C	T	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=1221;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-2.846;SOR=0.612	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1448,0,1441	18	0	1	0
chr19	45472864	45472864	G	A	exonic	FOSB	.	nonsynonymous SNV	FOSB:NM_001114171:exon3:c.G761A:p.G254D,FOSB:NM_006732:exon4:c.G869A:p.G290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0205580555219	0.0008	0.00119808	0.0004	0.0015	0.0013	0	0	0.0002	0	0.0002	0.0003622	56	154602	rs139625208	0.0002	0.0002	0.0003	0.0002	0.0016	0.0002	0.0002	0.0012	0.0011	0.0016	0.0014	0	2.519e-05	0	0.0012	0.0002	0.0007	9.275e-05	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0005	0.0012	0.0011	0.0015	0	0.0017	0	0	0	0.0068	0.0001	0.0009	0.0002	0.075	0.34444	T	0.667	0.60972	T	1.0	0.90584	D	0.998	0.88582	D	0.000192	0.48115	D	0.181773	1	0.81001	D	0.895	0.22405	L	0.67	0.52187	T	-1.08	0.30555	N	0.281	0.32921	-0.9145	0.46285	T	0.141	0.46091	T	10	0.021095157	0.00498	T	0.020558	0.43179	T	0.264	0.57741	.	.	0.640670019896	0.63770	0.5791658900950816	0.57845	2.09917820347	0.94799	0.834728837013	0.87287	D	0.379317	0.74209	T	-0.0889705	0.38246	T	0.101758	0.77023	D	0.0114591147743662	0.00172	T	0.849515	0.54093	T	0.21576269	0.44017	0.20960273	0.45311	0.21576269	0.44017	0.20960273	0.45310	-4.42	0.29827	T	.	.	0.144	0.52202	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.481195	0.69914	25.4	0.99837556049404286	0.91886	0.88763	0.48848	D	AEFDBHCIJ	0.858847	0.77642	D	0.509638233207127	0.67656	5.111088	0.520701201400297	0.69385	5.352789	0.999999999999991	0.74766	0.685219	0.55550	0	0.627178	0.54094	0	0.674405	0.61402	0	0.592323	0.36904	0	.	.	4.74	4.74	0.59717	3.769000	0.55013	9.723000	0.81373	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.161	0.58965	803	0.44167	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	4229.33	45	chr19	45472864	.	G	A	4229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.606;DP=934;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.17;SOR=0.716	GT:AD:DP:GQ:PL	0/1:124,172:296:99:4243,0,2791	18	0	1	0
chr19	46493952	46493952	T	G	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.A1514C:p.E505A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0222524814107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.07220	T	0.273	0.31830	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	1.99	0.21666	T	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.050326675	0.04748	T	0.022252	0.45119	T	.	.	.	.	0.146414634003	0.14194	0.1364049607342363	0.13564	.	.	0.319709330797	0.13377	T	.	.	.	-0.328183	0.06249	T	-0.709188	0.05337	T	.	.	.	0.339966	0.07337	T	0.08147669	0.18724	0.11003444	0.26527	0.08147669	0.18723	0.11003444	0.26526	-5.493	0.41803	T	.	.	0.113	0.22391	B	.	.	0.591532	0.09598	6.374	0.84512789983387004	0.15335	0.00943	0.03638	N	AEFBCI	0.029413	0.02771	N	.	.	.	.	.	.	0.926952740419216	0.26870	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.808	0.17861	-2.278000	0.01241	-0.100000	0.11953	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.0:0.2084:0.0:0.7916	3.652	0.07744	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1439.33	37	chr19	46493952	.	T	G	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.063;DP=925;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.265;SOR=0.769	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1453,0,1874	18	0	1	0
chr19	46493986	46493986	G	C	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.C1480G:p.R494G	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171101678107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.06749013	0.09410	T	0.171102	0.84847	D	.	.	.	.	0.449283877778	0.44552	0.13604665218853548	0.13528	.	.	0.250925034285	0.03866	T	.	.	.	-0.351289	0.04646	T	-0.742379	0.03791	T	.	.	.	0.369563	0.08694	T	0.08700898	0.20245	0.10966447	0.26432	0.08700898	0.20245	0.10966447	0.26431	-3.724	0.19673	T	.	.	0.206	0.43158	B	.	.	1.416855	0.18331	13.68	0.92220851049580932	0.21594	0.01733	0.05477	N	AEFDBI	0.070376	0.13967	N	.	.	.	.	.	.	0.989160851410125	0.31742	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.725	0.17395	0.159000	0.16258	-0.921000	0.06919	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3294:0.6706:0.0	5.998	0.18736	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1701.33	37	chr19	46493986	.	G	C	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=944;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.668;SOR=0.671	GT:AD:DP:GQ:PL	0/1:75,74:149:99:1715,0,1604	18	0	1	0
chr19	48703648	48703648	G	A	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.G692A:p.R231Q,FUT2:NM_001097638:exon2:c.G692A:p.R231Q	.	420	1100	1	1	0	3	0.00136178	.	.	.	4147810	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.571	0.285930707156	.	.	2.475e-05	0	0	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs368093519	1.642e-05	1.642e-05	1.498e-05	1.788e-05	0.0003	1.111e-05	9.34e-06	0.0002	0.0001	0	0.0003	0	0	3.747e-05	0	7.194e-06	0	1.164e-05	1.315e-05	1.314e-05	0	2.693e-05	6.557e-05	2.19e-06	8.2e-07	.	.	0	0	6.557e-05	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.067	0.44302	T	0.954	0.54400	P	0.557	0.49454	P	.	.	.	.	0.791817	0.34396	D	3.005	0.85968	M	-4.22	0.96982	D	-3.2	0.64710	D	0.372	0.42345	1.128	0.99921	D	0.916	0.97210	D	8	0.76530284	0.76657	D	0.285931	0.90396	D	0.571	0.82573	0.718	0.85319	0.973378256071	0.97309	0.6358774888011882	0.63521	0.526975694872	0.50312	0.343613296747	0.16978	T	0.178217	0.52878	T	-0.0352144	0.46657	T	0.009	0.70930	D	0.773818552494049	0.44670	D	0.906609	0.67067	D	0.20364395	0.42449	0.25422102	0.51083	0.20364395	0.42449	0.25422102	0.51082	-9.103	0.68356	D	.	.	0.147	0.33110	B	.;.	.;.	3.993921	0.58801	24.0	0.99917050818652986	0.98449	0.91043	0.52748	D	AEFGBI	0.653743	0.62667	D	0.39168930086205	0.60972	4.292216	0.299112642479422	0.55488	3.71178	0.889046519880676	0.25803	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.16	4.12	0.47504	5.833000	0.69056	4.638000	0.44143	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0876:0.0:0.9124:0.0	11.646	0.50519	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	46	chr19	48703648	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=1645;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.06;SOR=0.891	GT:AD:DP:GQ:PL	0/1:90,71:161:99:1919,0,2342	18	0	1	0
chr19	52929180	52929180	T	C	exonic	ZNF816-ZNF321P	.	nonsynonymous SNV	ZNF816-ZNF321P:NM_001202473:exon4:c.A425G:p.H142R	.	434	1084	4	0	0	4	0.00184162	.	.	.	2387085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0021170031406	0.0009	.	0.0009	0.0004	8.637e-05	0	0	0.0016	0.0022	0	0.0009056	140	154602	rs201431366	0.0015	0.0015	0.0016	0.0014	0.0019	0.0014	0.0014	0.0018	0.0018	0.0002	0.0002	0.0003	0	7.488e-05	0.0012	0.0019	0.0008	2.319e-05	0.0009	0.0009	0.0011	0.0008	0.0019	0.0008	0.0008	0.0016	0.0015	0.0001	0	0.0005	0	0	0	0	0.0019	0.0010	0	0.219	0.19023	T	0.275	0.22016	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.33	0.01072	T	-4.91	0.81595	D	0.162	0.17002	-0.9355	0.43318	T	0.005	0.01797	T	9	0.013365835	0.00284	T	0.002117	0.03935	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.06546945332546107	0.06485	0.0206994152946	0.02043	.	.	.	.	.	.	-0.645467	0.00077	T	-0.706112	0.05498	T	0.0155660815486717	0.00354	T	0.30107	0.05662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04002	B	.	.	0.031234	0.04504	1.207	0.37961627701867584	0.02532	0.00773	0.03184	N	AEFBI	0.028792	0.02603	N	-1.23362620162554	0.04520	0.2041699	-1.37669924972792	0.03502	0.1634731	1.0850749236282E-5	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.1	-1.36	0.08610	-0.474000	0.06686	.	.	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5024:0.0:0.4976	4.320	0.10454	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	0.001591	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	4289.33	33	chr19	52929180	.	T	C	4289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.298;DP=1061;ExcessHet=0;FS=6.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.419;SOR=0.922	GT:AD:DP:GQ:PL	0/1:188,179:367:99:4303,0,4988	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:288,90:378:99:1399,0,8106	8	0	11	0
chr19	54819908	54819908	C	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001282171:exon2:c.C230G:p.P77R,KIR3DS1:NM_001282170:exon3:c.C266G:p.P89R,KIR3DS1:NM_001083539:exon4:c.C551G:p.P184R,KIR3DL1:NM_001322168:exon4:c.C551G:p.P184R,LOC112268355:NM_001368254:exon4:c.C551G:p.P184R,KIR3DL1:NM_013289:exon4:c.C551G:p.P184R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00239617	0.0011	0	9.171e-05	0	0	0	0	0.0084	0.0008991	139	154602	rs559245017	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0	2.699e-06	0.0004	0.0055	0.0002	0.0002	0.0001	0.0002	0.0059	0.0001	0.0001	0.0042	0.0036	0	0	0	0	0	0	0	0	0	0.0059	0.063	0.39097	T	0.051	0.47828	T	0.949	0.53761	P	0.586	0.50343	P	0.438239	0.12660	U	0.569745	1	0.08975	N	2.835	0.82492	M	4.02	0.03178	T	-4.39	0.90976	D	0.168	0.19190	-1.1011	0.03961	T	0.036	0.15683	T	10	0.0054792166	0.00121	T	.	.	.	0.047	0.12962	0.525	0.62967	0.200317383148	0.19677	0.024310103535319247	0.02382	0.682336050407	0.60102	.	.	.	0.012666	0.11092	T	-0.584234	0.00182	T	-0.606438	0.12277	T	0.143590039655907	0.16580	T	.	.	.	0.16682261	0.37041	0.24563695	0.50056	0.16682261	0.37041	0.24563695	0.50055	-8.545	0.65424	D	.	.	0.113	0.27702	B	.;.;.	.;.;.	2.149258	0.27375	17.44	0.98578173323310514	0.43206	0.02483	0.06954	N	AEFDGBI	0.024702	0.01573	N	-0.449159192270265	0.23769	1.278734	-0.701682103307201	0.16918	0.8972611	2.01730630816238E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	1.44	0.21647	0.920000	0.28325	.	.	-0.657000	0.04367	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	6.339	0.20521	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001086	0.000000	0.001389	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5594.33	430	chr19	54819908	.	C	G	5594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.845;DP=3666;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=-0.932;QD=13.01;ReadPosRankSum=-0.382;SOR=0.765	GT:AD:DP:GQ:PL	0/1:201,229:430:99:5608,0,5122	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	0/1:49,42:91:99:.:.:1596,0,1905:.	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	0/1:49,42:91:99:.:.:1596,0,1905:.	0	15	4	0
chr19	56208883	56208883	C	T	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.C1174T:p.R392C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000307774122481	.	0.000199681	6.38e-05	0	0	0.0009	0	0	0	0	5.17e-05	8	154602	rs538143117	4.363e-05	4.312e-05	4.554e-05	4.171e-05	0.0013	3.485e-05	3.168e-05	0.0010	0.0009	3.056e-05	2.261e-05	0	0.0013	0	0	7.294e-06	5.016e-05	0	6.587e-05	6.564e-05	3.866e-05	9.43e-05	0.0015	3.525e-05	2.622e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0.0010	0	0.146	0.25055	T	0.151	0.32355	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	-0.78	0.21644	N	0.071	0.05799	-1.0091	0.27198	T	0.044	0.18989	T	6	0.024573684	0.00681	T	3.08E-4	0.00027	T	0.019	0.03383	0.672	0.81002	0.16115917748	0.15686	0.13092278076956562	0.13017	0.00642566875266	0.00562	.	.	.	0.003558	0.02970	T	-0.631258	0.00094	T	-0.686011	0.06623	T	0.0283919194371774	0.01745	T	0.758824	0.38273	T	0.053444095	0.10114	0.03713408	0.03303	0.053444095	0.10114	0.03713408	0.03302	-6.007	0.46339	T	.	.	0.367	0.58721	A	.;.	.;.	1.744880	0.22204	15.52	0.99430801815018321	0.64276	0.00905	0.03541	N	AEFDGBI	0.066867	0.13115	N	-0.772226296927566	0.14037	0.6960509	-0.998073244575275	0.09828	0.491271	3.37802320805266E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	1.38	0.242	0.14759	-0.785000	0.04735	.	.	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3832:0.6168:0.0	5.296	0.15062	934	0.15400	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	3064.33	43	chr19	56208883	.	C	T	3064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=1084;ExcessHet=0;FS=3.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.67;SOR=0.929	GT:AD:DP:GQ:PL	0/1:138,115:253:99:3078,0,3641	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	0/1:44,37:81:99:957,0,1177	17	0	2	0
chr19	57779687	57779687	A	T	exonic	ZNF586	.	nonsynonymous SNV	ZNF586:NM_017652:exon3:c.A1100T:p.H367L,ZNF586:NM_001204814:exon4:c.A971T:p.H324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0114083972461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.673134	0.81001	D	2.46	0.71463	M	-0.26	0.67187	T	-10.83	0.99288	D	0.552	0.57775	0.174	0.85466	D	0.533	0.82699	D	9	0.8595356	0.85167	D	0.011408	0.29007	T	0.375	0.69358	0.778	0.90312	0.731511515365	0.72912	0.20900239789514696	0.20816	0.482193756894	0.47184	0.63813149929	0.58298	T	0.240743	0.60913	T	0.0540259	0.58859	T	-0.160172	0.58337	T	0.997164785861969	0.90916	D	0.618838	0.23746	T	0.74558455	0.80613	0.5875887	0.76078	0.74558455	0.80614	0.5875887	0.76079	-11.864	0.86546	D	.	.	0.833	0.82567	P	.;.	.;.	3.396649	0.47056	22.4	0.97124577688054514	0.32469	0.85277	0.44396	D	AEFBHCI	0.503296	0.53534	D	0.42366687521328	0.62727	4.493356	0.177203466529373	0.48600	3.073806	0.825070642129634	0.24592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.65	1.65	0.23015	3.610000	0.53874	.	.	0.756000	0.94297	0.994000	0.38300	0.008000	0.19753	0.826000	0.38927	1.0:0.0:0.0:0.0	8.116	0.30100	970	0.06235	.;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	.	.	.	.	.	.	.	.	0.02632	2316.33	33	chr19	57779687	.	A	T	2316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=863;ExcessHet=0;FS=1.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.38;SOR=0.586	GT:AD:DP:GQ:PL	0/1:109,92:201:99:2330,0,2891	18	0	1	0
chr19	58562713	58562713	A	G	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.T1564C:p.F522L,MZF1:NM_198055:exon6:c.T1564C:p.F522L	.	426	1057	37	2	0	41	0.0190255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	.	.	0.00399361	0.0175	0	0	0	0	0.0095	0.0076	0.0227	0.0020892	323	154602	rs368446779	0.0018	0.0017	0.0012	0.0024	0.0186	0.0017	0.0017	0.0178	0.0175	0.0001	0.0017	0.0132	0.0002	2.949e-05	0.0075	0.0003	0.0033	0.0186	0.0016	0.0016	0.0013	0.0019	0.0199	0.0014	0.0013	0.0167	0.0155	0.0001	0	0.0040	0.0127	0.0002	0	0.0034	0.0003	0.0038	0.0199	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.864	0.61462	P	0.029907	0.25385	N	0.194139	0.994703	0.42384	D	2.78	0.81115	M	1.01	0.41058	T	-5.44	0.85397	D	0.545	0.57177	-0.4269	0.71166	T	0.256	0.62620	T	10	0.008585453	0.00194	T	.	.	.	0.401	0.71479	0.876	0.96632	0.720981639776	0.71852	0.21263705587622023	0.21179	1.80544744655	0.91727	0.943784475327	0.99586	D	0.523958	0.83404	D	-0.200832	0.20685	T	-0.0463209	0.67273	D	0.0905500721603535	0.11284	T	0.851115	0.53499	D	0.6772557	0.76822	0.70912534	0.82845	0.6772557	0.76823	0.70912534	0.82846	-10.583	0.77323	D	.	.	0.995	0.95577	P	.;.	.;.	5.006865	0.83121	28.0	0.99726774648267746	0.82477	0.99488	0.96641	D	AEFDGBHIJ	0.907463	0.86152	D	0.69106944119022	0.79047	6.996014	0.579250800344349	0.73453	5.973056	0.999999999998864	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	3.57	3.57	0.40014	8.935000	0.92440	10.300000	0.83276	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	10.739	0.45340	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009150	0.005618	0.002985	0.009317	0.000000	0.000000	0.006667	0.031250	0.02632	1172.33	35	chr19	58562713	.	A	G	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.527;DP=746;ExcessHet=0;FS=5.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.71;SOR=0.719	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1186,0,932	18	0	1	0
chr20	326558	326558	G	A	exonic	SOX12	.	nonsynonymous SNV	SOX12:NM_006943:exon1:c.G634A:p.A212T	.	201	1285	35	1	0	37	0.0141926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	.	0.00179712	0.0256	0	0.0227	0	.	0.0088	0.0217	0.0323	0.0011125	172	154602	rs562098614	0.0032	0.0030	0.0028	0.0037	0.0177	0.0031	0.0031	0.0169	0.0166	0.0006	0.0014	0.0003	0	7.914e-05	0.0096	0.0026	0.0033	0.0177	0.0018	0.0018	0.0017	0.0020	0.0159	0.0017	0.0016	0.0130	0.0119	0.0005	0	0.0013	0.0006	0	9.446e-05	0.0035	0.0022	0.0024	0.0159	0.122	0.27663	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999887	0.19853	N	0.345	0.11182	N	-4.52	0.97693	D	-0.01	0.07155	N	0.19	0.20793	-0.0268	0.81698	T	0.724	0.90536	D	9	0.0043923557	0.00089	T	.	.	.	0.297	0.61730	.	.	0.474168873855	0.47044	0.08394618797522635	0.08328	.	.	0.875440776348	0.93337	D	0.040251	0.25466	T	-0.317803	0.07079	T	-0.213683	0.53343	T	0.00283458586729885	0.00030	T	0.332967	0.07033	T	0.032572355	0.03308	0.10098065	0.24159	0.032572355	0.03307	0.10098065	0.24159	-6.794	0.52515	T	.	.	0.082	0.08899	B	.	.	1.599753	0.20451	14.76	0.9680411863745384	0.31161	0.08650	0.14549	N	AEFDBHCIJ	0.038486	0.05455	N	-0.906063815489928	0.10699	0.5125643	-0.811478820190698	0.14218	0.7417479	0.999999449189543	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.52	1.29	0.20717	-0.056000	0.11744	0.097000	0.14596	-0.319000	0.05888	0.004000	0.16614	0.960000	0.29291	0.655000	0.32830	0.247:0.0:0.753:0.0	8.612	0.32973	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	0.012367	0.000000	0.006579	0.015504	0.000000	0.000000	0.019608	0.020548	0.07895	1901.77	39	chr20	326558	.	G	A	1901.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.055;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.38;ReadPosRankSum=1.66;SOR=0.6	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1425,132,0	17	1	1	0
chr20	1921614	1921614	G	A	exonic	SIRPA	.	nonsynonymous SNV	SIRPA:NM_001040023:exon3:c.G656A:p.R219H,SIRPA:NM_001040022:exon4:c.G656A:p.R219H,SIRPA:NM_001330728:exon4:c.G656A:p.R219H,SIRPA:NM_080792:exon4:c.G656A:p.R219H	.	433	1088	1	0	0	1	0.000459348	.	.	.	3595971	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.0106596631037	0.0003	0.000199681	9.887e-05	0.0011	0	0	0	1.499e-05	0	0	8.41e-05	13	154602	rs140075472	2.736e-05	2.736e-05	3.131e-05	2.338e-05	0.0008	2.062e-05	1.816e-05	0.0005	0.0005	0.0008	2.236e-05	0	0	0	0	4.496e-06	0.0001	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	0	0.0005	0	0.127	0.27080	T	0.196	0.27943	T	0.009	0.16265	B	0.005	0.11217	B	0.268355	0.03755	N	1.498590	1	0.08975	N	1.915	0.51223	L	4.08	0.03003	T	-0.89	0.24244	N	0.098	0.10198	-0.9386	0.42837	T	0.012	0.04700	T	10	0.014510423	0.00305	T	0.01066	0.27451	T	0.012	0.01476	.	.	0.302459207581	0.29844	0.3693415542369576	0.36848	1.68496477605	0.90047	0.299837529659	0.10377	T	0.04888	0.28145	T	-0.622706	0.00106	T	-0.707784	0.05411	T	0.00800865041764233	0.00095	T	0.384162	0.09403	T	0.11966172	0.28172	0.12049609	0.29079	0.11966172	0.28172	0.12049609	0.29078	-10.714	0.78168	D	.	.	0.082	0.09772	B	.;.;.;.	.;.;.;.	1.666736	0.21255	15.12	0.97700145347451328	0.35430	0.01479	0.04924	N	AEFDGI	0.087975	0.17836	N	-1.04781323074491	0.07630	0.3551145	-1.06090164867441	0.08480	0.4172077	0.998327720650218	0.36758	0.706548	0.73137	0	0.633656	0.55848	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	4.86	1.84	0.24348	0.106000	0.15191	-0.909000	0.06962	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1612:0.4985:0.3403:0.0	8.264	0.30959	878	0.29785	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.;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	.	.	.	.	.	.	.	.	0.05263	12994.8	33	chr20	1921614	.	G	A	12994.8	.	AC=2;AF=0.053;AN=38;DP=1192;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.72;QD=30.58;SOR=1.034	GT:AD:DP:GQ:PL	1/1:0,425:425:99:13022,1275,0	18	1	0	0
chr20	2417475	2417475	T	A	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon10:c.T1580A:p.V527E,TGM6:NM_198994:exon10:c.T1580A:p.V527E	Spinocerebellar ataxia 35, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	344800	not_specified|Spinocerebellar_ataxia_type_35|not_provided	MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.459	.	0.0039	0.00419329	0.0013	0.0103	0.0013	0	0	0.0006	0.0012	0.0001	0.0013583	210	154602	rs61729226	0.0007	0.0007	0.0007	0.0007	0.0102	0.0007	0.0007	0.0094	0.0090	0.0102	0.0017	0.0042	0	0	0.0028	0.0004	0.0017	0.0001	0.0036	0.0036	0.0036	0.0036	0.0112	0.0033	0.0032	0.0104	0.0100	0.0112	0	0.0024	0.0020	0	0	0.0068	0.0003	0.0052	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.986	0.67487	D	0.908	0.64984	P	0.011844	0.29379	N	0.350840	1	0.08975	N	2.78	0.81115	M	-0.85	0.74371	T	-4.98	0.82141	D	0.865	0.86191	-0.4565	0.70184	T	0.354	0.71758	T	10	0.0140167475	0.00296	T	.	.	.	0.459	0.75687	.	.	0.479744053436	0.47606	0.8021131404505326	0.80165	0.546546852902	0.51647	0.388485789299	0.23457	T	0.237669	0.60541	T	-0.316493	0.07189	T	-0.216366	0.53085	T	0.0340948156676485	0.02653	T	0.683732	0.29211	T	0.89398783	0.90852	0.9228025	0.96594	0.9392087	0.95167	0.9108342	0.95748	-10.819	0.79735	D	0.6476153857451677	0.71928	0.919	0.84099	P	.;.	.;.	4.184509	0.63024	24.5	0.98794281590475286	0.46349	0.58599	0.30685	D	AEFDBI	0.411984	0.48224	N	0.299671235360974	0.56134	3.777544	0.131654973048782	0.46177	2.868009	0.035671781280521	0.14211	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	4.581000	0.60661	7.878000	0.72341	0.665000	0.62972	0.386000	0.26055	1.000000	0.68203	0.464000	0.28207	0.0:0.0:0.0:1.0	10.435	0.43614	814	0.42100	Transglutaminase, 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	0.005544	0.005051	0.013587	0.000000	0.050000	0.000000	0.000000	0.000000	0.05263	2633.81	45	chr20	2417475	.	T	A	2633.81	.	AC=2;AF=0.053;AN=38;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.93;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2661,264,0	18	1	0	0
chr20	32310937	32310937	G	T	exonic	KIF3B	.	nonsynonymous SNV	KIF3B:NM_004798:exon2:c.G1160T:p.G387V	.	394	1127	1	0	0	1	0.000443459	.	.	.	3407860	Retinal_dystrophy	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	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0187377366741	0.0002	.	3.3e-05	0	0	0	0	4.499e-05	0	6.06e-05	5.82e-05	9	154602	rs140314143	3.97e-05	4.036e-05	4.087e-05	3.853e-05	0.0003	3.115e-05	2.849e-05	6.099e-05	3.273e-05	0	0	3.828e-05	0	0	0.0003	4.14e-05	1.657e-05	9.276e-05	6.583e-05	6.569e-05	7.719e-05	5.393e-05	0.0001	3.523e-05	2.621e-05	6.808e-05	5.091e-05	2.42e-05	0	0	0	0	0	0	0.0001	0	0	0.31	0.14017	T	0.183	0.29153	T	0.048	0.22112	B	0.014	0.16862	B	0.032821	0.24977	N	0.340710	0.999999	0.81001	D	0.55	0.14455	N	-0.89	0.74793	T	-0.93	0.24898	N	0.222	0.24883	-0.7750	0.56581	T	0.236	0.60355	T	10	0.1258721	0.23925	T	0.018738	0.40901	T	0.149	0.39377	.	.	0.719026857602	0.71655	0.4059859602100281	0.40514	0.820805729779	0.67158	0.485069841146	0.36756	T	0.199482	0.55677	T	-0.201168	0.20637	T	-0.345213	0.39752	T	0.047666784375906	0.05083	T	0.725927	0.34027	T	0.12882692	0.30107	0.113629326	0.27425	0.12882692	0.30107	0.113629326	0.27424	-6.662	0.51523	T	.	.	0.076	0.06024	B	.	.	3.455452	0.48139	22.6	0.85795143741821667	0.16117	0.84010	0.43097	D	AEFBHCI	.	.	.	-0.094302453455072	0.37642	2.192925	0.0668441784831506	0.42892	2.602553	0.00827074196206687	0.11643	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.82	3.85	0.43556	3.080000	0.49810	6.750000	0.56508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2276:0.0:0.7724:0.0	8.542	0.32563	478	0.77585	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	976.33	34	chr20	32310937	.	G	T	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.941;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.879;SOR=0.616	GT:AD:DP:GQ:PL	0/1:28,35:63:99:990,0,765	18	0	1	0
chr20	34077063	34077063	G	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon7:c.G646A:p.G216S,RALY:NM_016732:exon8:c.G694A:p.G232S	.	406	1070	40	6	0	52	0.0237226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	0.0085	0	0.0014	0	0	0.0010	0.0064	0.0464	0.0054527	843	154602	rs779745009	0.0033	0.0033	0.0021	0.0047	0.0438	0.0033	0.0032	0.0427	0.0422	0.0002	0.0009	0.0011	0.0002	0.0001	0.0138	0.0006	0.0041	0.0438	0.0022	0.0022	0.0015	0.0028	0.0481	0.0020	0.0019	0.0430	0.0410	0.0003	0	0.0010	0.0017	0.0004	0	0.0068	0.0008	0.0019	0.0481	0.21	0.91255	T	0.27	0.51737	T	0.005	0.17332	B	0.005	0.11217	B	0.571835	0.11231	N	0.722516	0.999999	0.08975	N	1.7	0.43825	L	-2.15	0.86481	D	0.35	0.11913	N	0.245	0.27673	-0.7941	0.55491	T	0.350	0.71383	T	10	0.0029756129	0.00048	T	.	.	.	0.148	0.39182	.	.	0.525901189516	0.52236	0.3463686870031979	0.34550	0.541908027048	0.51315	0.645334661007	0.59323	T	0.077549	0.35681	T	-0.0102055	0.50238	T	-0.252436	0.49577	T	0.0158187146512762	0.00370	T	0.452355	0.19809	T	0.03201276	0.03147	0.038387362	0.03697	0.03201276	0.03147	0.038387362	0.03697	-6.098	0.47207	T	.	.	0.076	0.10449	B	.;.;.;.	.;.;.;.	-0.071250	0.03814	0.812	0.67360986287951718	0.08332	0.12095	0.17056	N	AEFDBCI	0.052155	0.09281	N	-1.13291267909635	0.06065	0.2782377	-1.13330919367617	0.07071	0.3426133	0.953134877470914	0.28056	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.37	2.42	0.28720	-0.028000	0.12299	.	.	-1.756000	0.00682	0.001000	0.13787	.	.	0.000000	0.00833	0.1348:0.0:0.8652:0.0	6.48	0.21256	135	0.94622	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011640	0.005051	0.005435	0.005848	0.000000	0.000000	0.012422	0.045455	0.02632	1148.33	105	chr20	34077063	.	G	A	1148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.912;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.18;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,44:77:99:0|1:34077058_C_CCAG:1162,0,777:34077058	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	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	0/1:100,56:167:99:117,0,1538	2	0	17	0
chr20	38012364	38012364	A	C	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.T1453G:p.F485V,TTI1:NM_014657:exon3:c.T1453G:p.F485V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0266897941991	.	.	8.248e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761042967	1.368e-05	1.368e-05	1.089e-05	1.65e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.619e-05	0	0	6.571e-06	6.567e-06	1.285e-05	0	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	0.299	0.14546	T	0.016	0.60972	D	0.264	0.31602	B	0.09	0.29851	B	0.000001	0.84330	D	0.095984	0.999682	0.48270	D	2.655	0.77738	M	-0.15	0.65192	T	-1.2	0.30555	N	0.679	0.70351	-0.8755	0.50112	T	0.193	0.54579	T	10	0.41623878	0.56560	T	0.02669	0.49576	D	0.263	0.57612	0.438	0.49157	0.630240563733	0.62722	0.46492882454608675	0.46411	0.30347720499	0.32673	0.515486121178	0.40991	T	0.024092	0.18267	T	0.251427	0.78736	D	0.138867	0.79470	D	0.313663214445114	0.25563	T	0.768923	0.39853	T	0.10135886	0.23942	0.097323395	0.23160	0.10135886	0.23942	0.097323395	0.23159	-6.167	0.47655	T	.	.	0.151	0.34205	B	.;.;.	.;.;.	3.250803	0.44415	21.9	0.98535554781869505	0.42645	0.99273	0.93780	D	AEFBI	0.708227	0.66270	D	0.0752829794684799	0.45310	2.789799	0.192147376811179	0.49416	3.145037	0.997561948403512	0.35763	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.578000	0.60640	7.926000	0.74773	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9166:0.0:0.0834:0.0	8.775	0.33917	745	0.52414	.;.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1993.33	36	chr20	38012364	.	A	C	1993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.18;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.687;SOR=0.714	GT:AD:DP:GQ:PL	0/1:79,80:159:99:2007,0,2095	18	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	133.23	33	chr20	41100210	.	T	C	133.23	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.272;DP=885;ExcessHet=1.3;FS=188.217;InbreedingCoeff=-0.164;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.601;SOR=8.584	GT:AD:DP:GQ:PL	0/1:39,10:49:29:29,0,858	13	0	5	1
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.022727	0.07895	6236.79	73	chr20	41362193	.	C	T	6236.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.93;DP=1211;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.886;SOR=0.716	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1664,0,1645	16	0	3	0
chr20	44337324	44337324	G	A	exonic	R3HDML	.	nonsynonymous SNV	R3HDML:NM_178491:exon1:c.G167A:p.R56H	.	.	.	.	.	.	.	.	.	.	.	2336965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0139435713753	7.7e-05	0.000199681	4.131e-05	0	0	0	0.0002	3.01e-05	0	0.0001	5.17e-05	8	154602	rs138012908	3.762e-05	3.762e-05	3.539e-05	3.988e-05	0.0001	2.96e-05	2.656e-05	5.396e-05	4.042e-05	0	0	7.652e-05	0	3.746e-05	0	3.597e-05	3.311e-05	0.0001	5.909e-05	5.905e-05	5.139e-05	6.713e-05	0.0004	3.075e-05	2.208e-05	7.29e-05	3.029e-05	2.405e-05	0	0	0	0	9.418e-05	0	7.35e-05	0	0.0004	0.025	0.47320	D	0.003	0.76473	D	0.399	0.34817	B	0.045	0.24526	B	0.000022	0.55875	N	0.119276	0.999991	0.58761	D	2.415	0.69758	M	2.94	0.09728	T	-4.01	0.74193	D	0.232	0.26111	-1.1121	0.02895	T	0.032	0.13592	T	10	0.1039719	0.19143	T	0.013944	0.33715	T	0.106	0.30130	.	.	0.173771789658	0.16945	0.5758138412832643	0.57510	0.286609179392	0.31053	0.372097492218	0.21133	T	0.063198	0.32114	T	-0.305578	0.08143	T	-0.440049	0.28803	T	0.550636410713196	0.34501	D	0.740126	0.35895	T	0.22904554	0.45635	0.16600865	0.38375	0.22904554	0.45635	0.16600865	0.38374	-9.378	0.70097	D	.	.	0.146	0.32324	B	.	.	3.054273	0.40991	21.3	0.99796553888505413	0.88194	0.95473	0.64861	D	AEFDGBI	0.702776	0.65903	D	-0.0324339103479774	0.40391	2.397801	0.0146793998813882	0.40397	2.410106	0.999991483812437	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.18	4.23	0.49319	6.083000	0.70975	4.381000	0.43181	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.0758:0.0:0.9242:0.0	13.466	0.60705	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1283.33	98	chr20	44337324	.	G	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.393;DP=1172;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.195;SOR=0.77	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1297,0,1517	18	0	1	0
chr20	56452243	56452243	C	T	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon5:c.C905T:p.T302M,CASS4:NM_020356:exon5:c.C1067T:p.T356M,CASS4:NM_001164116:exon6:c.C1067T:p.T356M	.	.	.	.	.	.	.	.	.	.	.	2263938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00416592914568	.	.	1.659e-05	0	8.687e-05	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs774792011	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0002	7.09e-06	5.79e-06	7.31e-06	5.71e-06	2.987e-05	2.236e-05	0	0	0	0.0002	1.259e-05	0	0	3.286e-05	3.94e-05	6.424e-05	0	7.243e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	2.94e-05	0	0	0.538	0.06847	T	0.169	0.30534	T	0.001	0.07471	B	0.001	0.04355	B	0.255838	0.03677	N	1.405110	1	0.08975	N	-1.735	0.00332	N	1.71	0.26737	T	1.97	0.00421	N	0.063	0.03502	-1.0534	0.13466	T	0.018	0.07234	T	10	0.01942578	0.00434	T	0.004166	0.09995	T	0.013	0.01715	0.173	0.07894	0.0297737177859	0.01360	0.14542425844287662	0.14465	.	.	0.227011263371	0.01755	T	0.004126	0.03532	T	-0.487966	0.00667	T	-0.85584	0.00889	T	0.0428584476841387	0.04212	T	0.145285	0.01187	T	0.011723489	0.00021	0.02464359	0.00488	0.011723489	0.00021	0.02464359	0.00488	-4.263	0.27655	T	.	.	0.067	0.02428	B	.	.	-1.450652	0.00326	0.006	0.060207344451539357	0.00018	0.02360	0.06726	N	AEFDGBCI	0.041599	0.06346	N	-1.82134254598984	0.00495	0.02130425	-1.75549473756339	0.00913	0.04082751	0.937810895241179	0.27314	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	-1.55	0.08105	-0.907000	0.04176	-7.382000	0.01168	-0.663000	0.04345	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.1124:0.2537:0.2335:0.4004	1.589	0.02490	986	0.02773	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	2683.33	34	chr20	56452243	.	C	T	2683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=828;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.459;SOR=0.812	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2697,0,2253	18	0	1	0
chr20	58221397	58221397	G	A	exonic	ANKRD60	.	nonsynonymous SNV	ANKRD60:NM_001304369:exon3:c.C668T:p.A223V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	0.0378491636902	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866444577	1.571e-05	1.573e-05	2.114e-05	1.014e-05	0.0002	1.029e-05	8.79e-06	0.0001	7.279e-05	0.0002	0	0	2.798e-05	0	0	1.019e-05	5.156e-05	0	7.229e-05	7.881e-05	6.425e-05	8.071e-05	0.0001	3.972e-05	3.128e-05	4.74e-05	3.054e-05	0.0001	0	0.0001	0	0	0	0	2.94e-05	0.0010	0	0.036	0.43393	D	0.005	0.72224	D	.	.	.	.	.	.	0.000091	0.51296	D	0.000000	0.660669	0.33049	D	1.92	0.51302	L	-0.43	0.69657	T	-3.34	0.66325	D	0.513	0.54409	0.022	0.82702	D	0.383	0.73884	T	8	0.7969157	0.79153	D	0.037849	0.57866	D	0.454	0.75347	0.67	0.80803	0.423002944196	0.41917	0.4956031152613826	0.49481	.	.	.	.	.	0.103619	0.41243	T	0.119156	0.66288	D	-0.0511307	0.66945	D	0.987764418125153	0.78200	D	0.69603	0.30552	T	0.27909166	0.50960	0.3997081	0.64527	0.27909166	0.50960	0.3997081	0.64527	-11.878	0.84251	D	.	.	0.433	0.61326	A	.	.	4.212752	0.63657	24.6	0.99901896453898953	0.97350	0.95206	0.63830	D	AEFBI	0.403389	0.47710	N	0.269684276706001	0.54619	3.627022	0.27734728050778	0.54220	3.587625	0.915283827561174	0.26478	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	4.211000	0.58304	7.447000	0.58926	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	15.335	0.73955	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2432.33	36	chr20	58221397	.	G	A	2432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.318;DP=854;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.161;SOR=0.731	GT:AD:DP:GQ:PL	0/1:102,104:206:99:2446,0,2282	18	0	1	0
chr20	62327984	62327984	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon36:c.G4679A:p.R1560H	.	411	1108	3	0	0	3	0.00135196	.	.	.	1521356	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.270	0.113146520472	0.0002	0.000199681	0.0003	0.0001	0	0.0001	0	0.0005	0	0.0001	0.0002781	43	154602	rs137986729	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0011	0.0009	0	2.237e-05	0.0055	0.0002	0	0.0020	6.925e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.238e-05	5.845e-05	4.241e-05	7.223e-05	0	0.0002	0.0029	0	0	0	0.0001	0	0	0.01	0.56456	D	0.01	0.65728	D	0.983	0.60381	D	0.507	0.47859	P	0.000003	0.62929	D	0.057547	0.993501	0.41961	D	1.945	0.52268	M	0.09	0.61443	T	-2.81	0.59389	D	0.482	0.51672	-0.6464	0.62870	T	0.208	0.56717	T	10	0.044491976	0.03412	T	0.113147	0.79155	D	0.270	0.58507	.	.	0.560265763849	0.55688	0.20157185066150404	0.20074	.	.	0.331132411957	0.15105	T	0.140258	0.47471	T	-0.234917	0.16004	T	-0.269242	0.47895	T	0.105517718310241	0.12953	T	0.623338	0.24021	T	0.21230672	0.43578	0.13674574	0.32706	0.21230672	0.43578	0.13674574	0.32705	-7.339	0.56473	T	.	.	0.109	0.20896	B	.	.	4.425751	0.68583	25.3	0.99954490157436959	0.99969	0.52524	0.29152	D	AEFGBCI	0.146821	0.27035	N	0.373020794440037	0.59965	4.180497	0.349543041504342	0.58480	4.018717	0.938007628617574	0.27323	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	3.131000	0.50210	3.898000	0.40333	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0:0.8562:0.0:0.1438	10.768	0.45508	779	0.47767	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003043	0.000000	0.001362	0.014793	0.000000	0.000000	0.000000	0.000000	0.02632	356.33	39	chr20	62327984	.	C	T	356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.721;DP=713;ExcessHet=0;FS=2.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-2.449;SOR=1.371	GT:AD:DP:GQ:PL	0/1:24,17:41:99:370,0,589	18	0	1	0
chr20	63319083	63319083	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon22:c.C2689T:p.P897S	.	433	1079	10	0	0	10	0.00461255	.	.	.	3307169	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00561344173684	0.0002	.	0.0006	0.0001	8.691e-05	0	0	0.0009	0.0011	0.0006	0.0005175	80	154602	rs200164977	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	2.991e-05	0.0004	0.0098	0	0	0.0024	0.0002	0.0009	0.0004	0.0003	0.0003	0.0003	0.0004	0.0002	0.0003	0.0002	6.81e-05	5.092e-05	0	0.0044	0.0002	0.0098	0	0	0	0.0001	0.0010	0.0002	0.19	0.21144	T	0.145	0.35205	T	0.819	0.54666	P	0.334	0.54942	B	0.000171	0.48594	D	0.140481	1	0.08975	N	1.185	0.30054	L	4.5	0.02032	T	-2.89	0.60665	D	0.204	0.22742	-0.9216	0.45334	T	0.009	0.03403	T	10	0.008271068	0.00188	T	0.005613	0.14500	T	0.071	0.20720	.	.	0.257786959452	0.25393	0.1486722946313925	0.14789	0.0376229206276	0.03990	0.524364709854	0.42242	T	0.019398	0.15464	T	-0.447414	0.01169	T	-0.552496	0.17087	T	0.100084526710047	0.12366	T	0.60384	0.22664	T	0.057726633	0.11524	0.08008888	0.18088	0.057726633	0.11524	0.08008888	0.18087	-8.58	0.64957	D	.	.	0.077	0.06387	B	.;.	.;.	0.448904	0.08191	4.926	0.87825934592898192	0.17510	0.07890	0.13880	N	AEFBI	0.103579	0.20749	N	-0.628742977561015	0.18085	0.9360833	-0.795887070540839	0.14595	0.7634494	4.2512773068011E-4	0.06935	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	0.976	0.18846	0.078000	0.14615	0.336000	0.17333	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3157:0.376:0.3083:0.0	7.17	0.24889	.	.	Laminin G domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2052.33	37	chr20	63319083	.	C	T	2052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.141;DP=854;ExcessHet=0;FS=2.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.288;SOR=0.514	GT:AD:DP:GQ:PL	0/1:89,88:177:99:2066,0,2073	18	0	1	0
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S,CHRNA4:NM_001256573:exon5:c.G832A:p.G278S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane 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	0.000515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1297.33	66	chr20	63350051	.	C	T	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=2008;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.478;SOR=0.676	GT:AD:DP:GQ:PL	0/1:71,51:122:99:1311,0,1728	18	0	1	0
chr21	29037439	29037440	AT	-	exonic	USP16	.	frameshift deletion	USP16:NM_001001992:exon6:c.609_610del:p.C204Ffs*16,USP16:NM_006447:exon6:c.612_613del:p.C205Ffs*16,USP16:NM_001032410:exon7:c.612_613del:p.C205Ffs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339585128	1.386e-06	1.368e-06	0	2.79e-06	2.454e-05	2.3e-07	9e-08	.	.	0	2.454e-05	0	0	0	0	0	0	1.241e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2073.29	35	chr21	29037438	.	CAT	C	2073.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.165;DP=755;ExcessHet=0;FS=2.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.42;SOR=0.953	GT:AD:DP:GQ:PL	0/1:74,55:129:99:2087,0,2942	18	0	1	0
chr21	29063514	29063514	T	C	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon7:c.A560G:p.K187R,CCT8:NM_001282908:exon8:c.A626G:p.K209R,CCT8:NM_006585:exon8:c.A779G:p.K260R,CCT8:NM_001282907:exon9:c.A722G:p.K241R	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0268151337184	0.0006	0.00219649	0.0014	0.0002	0.0023	0	0.0002	0.0017	0.0044	0.0012	0.0013583	210	154602	rs139983851	0.0013	0.0013	0.0013	0.0013	0.0071	0.0012	0.0012	0.0054	0.0048	0.0002	0.0025	0.0052	0	0.0002	0.0071	0.0012	0.0017	0.0011	0.0011	0.0011	0.0010	0.0012	0.0025	0.0009	0.0009	0.0019	0.0017	0.0003	0	0.0025	0.0037	0	9.411e-05	0.0102	0.0012	0.0047	0.0010	0.226	0.19927	T	0.301	0.20422	T	0.696	0.41742	P	0.256	0.39259	B	0.000002	0.62929	D	0.134875	0.999994	0.58761	D	2.145	0.60081	M	-0.32	0.68181	T	-2.08	0.47514	N	0.286	0.33360	-0.4465	0.70515	T	0.291	0.66278	T	10	0.0084634125	0.00192	T	0.026815	0.49694	D	0.232	0.53354	.	.	0.447033504574	0.44327	0.44234095412281776	0.44151	0.190945093199	0.21410	0.567239880562	0.48288	T	0.432593	0.78031	T	-0.376657	0.03270	T	-0.320294	0.42542	T	0.0267913966580375	0.01515	T	0.979902	0.93529	D	0.60240364	0.72820	0.46811366	0.69146	0.60240364	0.72821	0.46811366	0.69147	-4.279	0.32045	T	.	.	0.095	0.17700	B	.;.;.	.;.;.	3.691859	0.52601	23.3	0.99829957502109545	0.91198	0.97779	0.77072	D	AEFBCI	0.897156	0.83903	D	0.476346966423615	0.65710	4.857076	0.538681291293889	0.70612	5.531113	0.999999999996558	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.546000	0.81086	7.838000	0.70402	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.868	0.78857	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1405.33	49	chr21	29063514	.	T	C	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.787;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-1.082;SOR=0.673	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1419,0,1234	18	0	1	0
chr21	36230898	36230898	C	T	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon14:c.C2114T:p.S705F,DOP1B:NM_005128:exon14:c.C2114T:p.S705F	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0169337541332	0.0048	0.00219649	0.0034	0.0015	0.0027	0	0.0056	0.0049	0.0077	0.0001	0.0035963	556	154602	rs145155731	0.0049	0.0049	0.0051	0.0048	0.0057	0.0048	0.0048	0.0055	0.0055	0.0013	0.0035	0.0018	2.519e-05	0.0056	0.0040	0.0057	0.0054	0.0002	0.0040	0.0040	0.0044	0.0035	0.0056	0.0037	0.0036	0.0052	0.0050	0.0019	0	0.0052	0.0023	0	0.0040	0.0034	0.0056	0.0047	0.0002	0.005	0.63226	D	0.007	0.69154	D	0.016	0.17332	B	0.017	0.18140	B	0.001379	0.39242	N	0.294400	0.982567	0.39907	D	2.255	0.64187	M	2.65	0.12676	T	-2.28	0.50830	N	0.715	0.71765	-1.1143	0.02725	T	0.037	0.15770	T	10	0.009980291	0.00224	T	0.016934	0.38413	T	0.157	0.40909	.	.	0.20549828249	0.20151	0.5946650929862937	0.59396	0.735651689387	0.62965	0.40223544836	0.25380	T	0.170529	0.51831	T	-0.337314	0.05576	T	-0.254693	0.49352	T	0.0267349145722985	0.01507	T	0.910909	0.68443	D	0.1512572	0.34395	0.17712888	0.40294	0.1512572	0.34395	0.17712888	0.40293	-4.735	0.33824	T	.	.	0.179	0.38959	B	.	.	3.194680	0.43421	21.7	0.98681960457422935	0.44624	0.92674	0.56270	D	AEFBI	0.194915	0.32198	N	-0.0613996980696069	0.39096	2.300047	0.0464658128436942	0.41901	2.525178	0.90946653913008	0.26313	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	5.009000	0.63753	7.576000	0.60835	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:1.0:0.0:0.0	19.589	0.95494	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1793.33	34	chr21	36230898	.	C	T	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.007;SOR=0.693	GT:AD:DP:GQ:PL	0/1:96,66:162:99:1807,0,2404	18	0	1	0
chr21	38805527	38805527	G	T	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_001256295:exon1:c.G181T:p.A61S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352650130	4.405e-06	3.42e-06	1.729e-06	7.186e-06	0.0003	1.29e-06	9.4e-07	4.36e-06	1.63e-06	0	0	0	0	0	0.0003	0	4.838e-05	2.629e-05	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	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	849.33	36	chr21	38805527	.	G	T	849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.093;DP=713;ExcessHet=0;FS=3.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.477;SOR=0.333	GT:AD:DP:GQ:PL	0/1:33,34:67:99:863,0,871	18	0	1	0
chr21	39413887	39413887	G	T	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384303:exon7:c.C745A:p.L249I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	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	.	.	.	.	.	.	.	.	0.08333	34.75	4	chr21	39413887	.	G	T	34.75	.	AC=2;AF=0.083;AN=24;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.4523;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.37;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
chr21	42110960	42110960	G	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon11:c.G1738T:p.A580S,UMODL1:NM_001199527:exon11:c.G1522T:p.A508S,UMODL1:NM_001199528:exon11:c.G1522T:p.A508S,UMODL1:NM_173568:exon11:c.G1738T:p.A580S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0343220629434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40832	D	0.165	0.30926	T	0.42	0.35330	B	0.198	0.36766	B	0.530934	0.05257	N	1.308000	1	0.08975	N	1.445	0.36358	L	-0.78	0.73739	T	-0.73	0.20576	N	0.098	0.13911	-0.9301	0.44124	T	0.208	0.56785	T	10	0.06468892	0.08616	T	0.034322	0.55594	D	0.019	0.03383	0.207	0.12356	0.340032825777	0.33618	0.2685073958579978	0.26763	0.194962813316	0.21832	0.24495652318	0.03255	T	0.00251	0.01904	T	-0.203177	0.20346	T	-0.529626	0.19324	T	0.142224037859417	0.16464	T	0.541546	0.18382	T	0.040688373	0.05853	0.04232381	0.05014	0.040688373	0.05853	0.04232381	0.05013	-3.309	0.14510	T	.	.	0.082	0.14293	B	.;.;.;.	.;.;.;.	0.065339	0.04751	1.375	0.68389418244821298	0.08644	0.11516	0.16686	N	AEFDBI	0.085010	0.17232	N	-1.13411265475762	0.06045	0.2772484	-1.1850433834914	0.06158	0.2955913	0.999678019174262	0.41644	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.83	0.891	0.18359	-0.055000	0.11763	0.635000	0.20265	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1012:0.0:0.5571:0.3417	5.657	0.16922	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1731.33	61	chr21	42110960	.	G	T	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.235;DP=1077;ExcessHet=0;FS=1.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.2;ReadPosRankSum=0.867;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,44:78:99:0|1:42110959_A_C:1745,0,1295:42110959	18	0	1	0
chr21	43797658	43797658	A	G	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon7:c.A580G:p.I194V	.	436	1050	34	2	0	38	0.0177736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0067	0.00439297	0.0076	0.0086	0.0029	0	0.0035	0.0083	0.0089	0.0128	0.0070568	1091	154602	rs34224504	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0070	0.0039	0.0103	0	0.0037	0.0144	0.0065	0.0074	0.0115	0.0067	0.0068	0.0062	0.0073	0.0120	0.0064	0.0063	0.0095	0.0086	0.0081	0.0011	0.0063	0.0101	0	0.0029	0.0034	0.0066	0.0109	0.0120	.	.	.	0.052	0.47581	T	0.198	0.29589	B	0.068	0.27651	B	0.000014	0.62929	N	0.147144	0.998836	0.45528	D	1.65	0.42232	L	0.93	0.44065	T	-0.7	0.19933	N	0.108	0.09349	-1.0479	0.14988	T	0.082	0.32178	T	10	0.0061847866	0.00139	T	.	.	.	0.124	0.34239	.	.	0.228597637076	0.22478	0.1129430152115122	0.11222	0.396317032902	0.40747	0.324425399303	0.14091	T	0.007208	0.06625	T	-0.620224	0.00110	T	-0.653298	0.08724	T	0.00837291945576133	0.00101	T	0.738226	0.35599	T	0.40382156	0.60996	0.3074112	0.56763	0.40382156	0.60997	0.3074112	0.56762	-8.069	0.61540	D	.	.	0.075	0.05360	B	.	.	0.819982	0.11909	8.475	0.79996522551697846	0.12997	0.81082	0.40563	D	AEFDGBCI	0.103219	0.20685	N	-0.573273131429975	0.19761	1.036678	-0.63292922354271	0.18649	0.9971872	0.999574027058866	0.40495	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	1.02	0.19102	1.350000	0.33615	1.737000	0.28371	-0.065000	0.16512	0.992000	0.37556	0.461000	0.25002	0.088000	0.17685	0.6597:0.0:0.3403:0.0	6.405	0.20863	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	0.014099	0.015152	0.019022	0.005848	0.000000	0.008621	0.018293	0.015152	0.02632	941.33	34	chr21	43797658	.	A	G	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.163;DP=1350;ExcessHet=0;FS=3.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-0.128;SOR=1.034	GT:AD:DP:GQ:PL	0/1:72,44:116:99:955,0,1980	18	0	1	0
chr21	44591902	44591902	G	C	exonic	KRTAP10-6	.	nonsynonymous SNV	KRTAP10-6:NM_198688:exon1:c.C583G:p.P195A	.	401	1113	8	0	0	8	0.00358102	.	.	.	2292313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.000959542332209	.	.	0.0003	0.0001	8.639e-05	0.0001	0	0.0004	0	0.0003	0.0002264	35	154602	rs201136864	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	3.004e-05	0.0001	0.0057	2.531e-05	0	0.0007	0.0001	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	9.111e-05	2.579e-05	0	6.679e-05	0.0043	0	0	0	0.0002	0	0.0006	0.751	0.03576	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	5.73	0.00718	T	-1.6	0.38540	N	0.176	0.18920	-0.9398	0.42648	T	0.002	0.00526	T	9	0.010165811	0.00227	T	9.6E-4	0.00980	T	0.050	0.13987	.	.	0.0716867268079	0.06686	0.02174683203549137	0.02126	0.468134351491	0.46167	.	.	.	.	.	.	-0.511376	0.00493	T	-0.661814	0.08144	T	0.0220698583561943	0.00917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00793	B	.	.	0.424632	0.07954	4.662	0.85517344444927113	0.15942	0.03566	0.08774	N	AEFBCI	0.025721	0.01810	N	-0.981531053343601	0.08998	0.424096	-1.08878594157035	0.07920	0.3872273	0.01389479205682	0.12524	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	1.34	0.029	0.13478	-1.440000	0.02518	-0.070000	0.12310	-0.660000	0.04357	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.0:0.0:0.7027:0.2973	6.034	0.18924	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02778	2724.71	310	chr21	44591902	.	G	C	2724.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.486;DP=2656;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.75;MQRankSum=1.28;QD=10.94;ReadPosRankSum=0.773;SOR=0.683	GT:AD:DP:GQ:PL	0/1:140,109:249:99:2738,0,4030	17	0	1	1
chr21	44637717	44637717	T	0	exonic	KRTAP10-10	.	.	.	.	433	876	177	15	21	228	0.105666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6951.77	438	chr21	44637717	.	T	*	6951.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.267;DP=6216;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.613;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,128:294:99:.:.:4676,0,6157:.	12	2	3	2
chr21	44637718	44637718	G	0	exonic	KRTAP10-10	.	.	.	.	432	881	177	15	17	224	0.10513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6950.77	438	chr21	44637718	.	G	*	6950.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.891;DP=6220;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.794;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,128:294:99:.:.:4676,0,6157:.	12	2	3	2
chr21	44637719	44637719	T	0	exonic	KRTAP10-10	.	.	.	.	1	177	5	0	43	48	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6948.77	438	chr21	44637719	.	T	*	6948.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.59;DP=6228;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.729;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,128:294:99:.:.:4676,0,6157:.	12	2	3	2
chr21	44646825	44646825	G	T	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G367T:p.A123S	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000502663124108	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0	0.0007	9.7e-05	15	154602	rs879996732	2.391e-05	3.852e-05	1.537e-05	3.257e-05	0.0003	1.721e-05	1.519e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.751e-06	3.406e-05	0.0003	6.814e-06	0.0001	0	1.397e-05	1.499e-05	0	0	.	.	0	0	0	0	0	0	0	1.499e-05	0	0	1.0	0.00964	T	0.962	0.02535	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999999	0.08975	N	-1.175	0.00869	N	6.12	0.00585	T	1.03	0.01350	N	0.112	0.09914	-0.9618	0.38839	T	0.001	0.00188	T	9	0.012880653	0.00275	T	5.03E-4	0.00153	T	0.033	0.08068	0.36	0.36385	0.0297737177859	0.01360	0.03188396592462182	0.03137	0.0132284816824	0.01271	0.199055016041	0.00430	T	6.12E-4	0.00258	T	-0.633249	0.00091	T	-0.804664	0.01788	T	0.0275626740741877	0.01625	T	0.0160584	0.00090	T	0.033367485	0.03541	0.043169957	0.05311	0.033367485	0.03540	0.043169957	0.05310	1.933	0.00055	T	.	.	0.064	0.01645	B	.	.	-1.748370	0.00176	0.003	0.44829602764638682	0.03475	0.00707	0.02997	N	AEFGBCI	0.025186	0.01684	N	-2.41637471270447	0.00025	0.001074072	-2.41775446648032	0.00036	0.001574869	0.999843289721691	0.43971	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	1.91	-3.83	0.03988	-5.461000	0.00144	-2.568000	0.03599	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.34:0.1393:0.2769:0.2439	0.351	0.00325	.	.	.	.	.	.	.	.	Likely benign	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	2323.33	124	chr21	44646825	.	G	T	2323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=2518;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-9.679;QD=8.36;ReadPosRankSum=-3.89;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,73:278:99:0|1:44646825_G_T:2337,0,8327:44646825	18	0	1	0
chr21	44646834	44646834	T	C	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.T376C:p.C126R	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00182690766187	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0	0.0007	.	.	.	rs782233211	1.124e-05	3.713e-05	8.377e-06	1.415e-05	0.0002	6.66e-06	5.39e-06	8.554e-05	6.675e-05	0	0	0	0	0	0.0002	1.833e-06	1.702e-05	0.0001	6.643e-06	9.24e-05	0	1.36e-05	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.766	0.56676	P	.	.	.	.	0.999885	0.19853	N	4.765	0.99591	H	3.49	0.05071	T	-6.33	0.90895	D	0.409	0.44952	-1.0939	0.04914	T	0.050	0.21182	T	9	0.5214386	0.62665	D	0.001827	0.03167	T	0.059	0.16972	0.747	0.87821	0.300784259202	0.29686	0.263900502843815	0.26303	0.0142121615637	0.01355	0.274518430233	0.06739	T	0.151656	0.49169	T	-0.34724	0.04903	T	-0.430586	0.29869	T	0.383154422044754	0.28303	T	0.451055	0.12757	T	0.6733997	0.76615	0.5800292	0.75659	0.6733997	0.76616	0.5800292	0.75660	-4.58	0.31920	T	.	.	0.198	0.42111	B	.	.	2.093327	0.26629	17.18	0.80691173895187474	0.13323	0.05257	0.11094	N	AEFGBCI	0.040990	0.06172	N	-0.100914610669236	0.37352	2.171943	-0.355666651671566	0.26334	1.453885	0.997465139084784	0.35646	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.99	2.99	0.33673	1.905000	0.39508	0.157000	0.15360	0.661000	0.55757	0.789000	0.29582	0.003000	0.18671	0.203000	0.21983	0.0:0.0:0.0:1.0	9.395	0.37557	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1915.33	124	chr21	44646834	.	T	C	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=2499;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-10.73;QD=7.07;ReadPosRankSum=-4.738;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,61:271:99:0|1:44646825_G_T:1929,0,8634:44646825	18	0	1	0
chr21	44646841	44646841	G	A	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G383A:p.R128Q	.	419	1098	5	0	0	5	0.00227169	.	.	.	2682696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00508909382001	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0.0011	0.0008	0.0001294	20	154602	rs781935072	3.516e-05	6.395e-05	3.073e-05	3.964e-05	0.0005	2.704e-05	2.441e-05	0.0003	0.0003	0	0.0005	0	2.607e-05	1.911e-05	0.0005	1.375e-05	5.11e-05	9.995e-05	3.407e-05	0.0002	5.318e-05	1.398e-05	0.0001	1.296e-05	8.24e-06	2.354e-05	9.42e-06	0	0	0.0001	0	0	0	0	2.998e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-2.51	0.00055	N	5.13	0.01211	T	2.61	0.00209	N	0.086	0.06322	-0.9089	0.46989	T	0.001	0.00438	T	9	0.009119779	0.00206	T	0.005089	0.12908	T	0.034	0.08419	0.246	0.18139	0.0551355673512	0.04727	0.03410906213113424	0.03358	0.0135147080433	0.01299	0.201820984483	0.00512	T	6.46E-4	0.00278	T	-0.563598	0.00242	T	-0.745624	0.03659	T	0.0167317080956348	0.00430	T	0.0389961	0.00270	T	0.024778591	0.01343	0.038252596	0.03653	0.024778591	0.01343	0.038252596	0.03653	1.44	0.00087	T	.	.	0.051	0.00158	B	.	.	0.074718	0.04821	1.425	0.68970906118094755	0.08824	0.00439	0.02144	N	AEFGBCI	0.014598	0.00239	N	-1.59977075688941	0.01265	0.05507481	-1.50453754492103	0.02309	0.1059897	0.980535540273965	0.30147	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	3.29	-0.83	0.10247	-0.169000	0.09900	-0.091000	0.12058	-0.049000	0.17311	0.000000	0.06391	0.000000	0.08366	0.362000	0.25931	0.5736:0.0:0.2425:0.1839	3.119	0.05999	.	.	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	1597.33	124	chr21	44646841	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.76;DP=2510;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.97;MQRankSum=-11.62;QD=5.87;ReadPosRankSum=-4.971;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,54:272:99:0|1:44646825_G_T:1611,0,8991:44646825	18	0	1	0
chr21	44646846	44646846	T	C	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.T388C:p.S130P	.	415	1102	5	0	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00358858907532	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0	0.0007	.	.	.	rs879995411	4.214e-06	3.231e-05	2.791e-06	5.657e-06	7.479e-05	1.52e-06	1e-06	3.182e-05	2.16e-05	0	0	0	0	0	0	0	0	7.479e-05	6.665e-06	0.0001	0	1.364e-05	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	0.068	0.35726	T	0.088	0.40586	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.93	0.84523	M	4.51	0.02015	T	-2.45	0.53577	N	0.118	0.10769	-1.0821	0.06946	T	0.027	0.11485	T	9	0.107103676	0.19879	T	0.003589	0.08216	T	0.140	0.37593	0.29	0.25081	0.192905019026	0.18896	0.04720663792504883	0.04663	0.0136768066126	0.01309	0.250402867794	0.03810	T	0.036039	0.23951	T	-0.229487	0.16718	T	-0.466789	0.25863	T	0.300115079682623	0.25008	T	0.160884	0.01452	T	0.2202412	0.44574	0.23028237	0.48125	0.2202412	0.44574	0.23028237	0.48124	-3.246	0.13051	T	.	.	0.103	0.18289	B	.	.	0.637527	0.10061	6.809	0.97079518259435593	0.32272	0.16276	0.19313	N	AEFGBCI	0.106254	0.21206	N	0.0219691209421317	0.42854	2.590016	-0.201115498900136	0.31496	1.783055	0.999986317528609	0.51787	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	3.32	3.32	0.37134	-2.689000	0.00903	-0.633000	0.08115	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.293000	0.24333	0.0:0.0:0.0:1.0	9.985	0.41006	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1300.33	124	chr21	44646846	.	T	C	1300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.02;DP=2505;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.07;MQRankSum=-12.03;QD=4.89;ReadPosRankSum=-5.594;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,47:266:99:0|1:44646825_G_T:1314,0,9054:44646825	18	0	1	0
chr21	44646870	44646870	G	A	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G412A:p.A138T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0048958587795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386166561	0	2.063e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.667	0.06365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999997	0.08975	N	-1.935	0.00224	N	4.98	0.01344	T	1.72	0.00564	N	0.051	0.02272	-0.9290	0.44284	T	0.001	0.00378	T	9	0.017842501	0.00383	T	0.004896	0.12286	T	0.007	0.00512	0.327	0.31034	0.0138822411134	0.00435	0.032076801720211524	0.03155	0.0132878716426	0.01276	0.184470742941	0.00142	T	4.68E-4	0.00164	T	-0.417312	0.01780	T	-0.837216	0.01141	T	0.057442231998774	0.06760	T	0.10069	0.00748	T	0.023943802	0.01178	0.04520114	0.06028	0.023943802	0.01178	0.04520114	0.06027	-0.692	0.00715	T	.	.	0.065	0.02038	B	.	.	-1.083806	0.00660	0.018	0.655002469083519	0.07790	0.00747	0.03111	N	AEFDGBCI	0.019986	0.00746	N	-1.94346161064364	0.00279	0.01196527	-1.94691997911177	0.00394	0.01742971	0.999977095623642	0.50053	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.93	-5.85	0.02121	-2.105000	0.01427	-6.077000	0.01504	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1778:0.3238:0.3474:0.1511	1.891	0.03051	.	.	.	.	.	.	.	.	Likely benign	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	35.33	306	chr21	44646870	.	G	A	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=4040;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-13.86;QD=0.16;ReadPosRankSum=-4.932;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,16:223:49:0|1:44646825_G_T:49,0,8644:44646825	18	0	1	0
chr22	15698769	15698769	G	T	splicing	POTEH	NM_001136213:exon4:c.1028+1G>T	.	.	.	498	1014	9	0	1	10	0.00441826	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.331e-05	0	0	0	0	6.256e-05	0.0012	0	3.84e-05	1	26028	rs768456850	3.639e-05	0.0009	1.775e-05	5.524e-05	0.0005	2.838e-05	2.574e-05	0.0003	0.0003	2.994e-05	0	0	0	0	0.0005	1.08e-05	1.665e-05	0.0004	7.241e-05	0.0008	3.864e-05	0.0001	0.0011	3.978e-05	3.133e-05	0.0004	0.0003	2.419e-05	0	6.543e-05	0	0	0	0	5.886e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252898	0.13744	T	-0.601047	0.12723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.520591	0.49350	22.8	0.8413159350197662	0.15115	0.65230	0.32668	D	AEFI	.	.	.	0.409239379146491	0.61929	4.40093	0.0426914032857451	0.41721	2.511202	1.53527211741348E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0859718	0.19548	1.54	1.54	0.22290	4.447000	0.59762	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	6.574	0.21751	.	.	.;.	.	.	.	.	.	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	2525.83	95	chr22	15698769	.	G	T	2525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.24;DP=4286;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=42.48;MQRankSum=-3.074;QD=2.37;ReadPosRankSum=1.37;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,75:421:99:0|1:15698769_G_T:2108,0,14189:15698769	17	0	2	0
chr22	15711017	15711017	G	T	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1503T:p.E501D	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470465845	2.604e-05	0.0005	1.09e-05	4.134e-05	0.0007	1.936e-05	1.695e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.898e-06	1.659e-05	0.0003	1.316e-05	0.0002	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.344e-05	3.049e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.81	0.22294	N	0.358	0.41063	-1.0493	0.14593	T	0.063	0.26065	T	9	0.10650462	0.19740	T	0.00104	0.01167	T	.	.	0.277	0.23004	0.0138822411134	0.00435	0.02823830488701238	0.02773	.	.	0.650555491447	0.60064	T	0.004782	0.04195	T	-0.191801	0.21993	T	-0.513286	0.20977	T	0.136628453409336	0.15982	T	0.681532	0.29028	T	.	.	.	.	.	.	.	.	-4.412	0.29719	T	.	.	0.156	0.34470	B	.;.	.;.	0.768235	0.11380	7.995	0.98322555819485691	0.40261	0.00981	0.03737	N	AEFI	0.031899	0.03500	N	-1.00265464351718	0.08549	0.4012335	-1.2184934362017	0.05612	0.267929	1.134474640041E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.403	0.11782	-0.320000	0.08070	.	.	-0.632000	0.04510	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4253:0.0:0.5747:0.0	4.081	0.09402	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	418.09	227	chr22	15711017	.	G	T	418.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=4509;ExcessHet=0.119;FS=0.858;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.026;MQ=35.17;MQRankSum=-2.001;QD=0.46;ReadPosRankSum=-0.081;SOR=0.598	GT:AD:DP:GQ:PL	0/1:414,49:463:3:3,0,10466	17	0	2	0
chr22	17727068	17727068	C	T	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270733:exon2:c.C152T:p.A51V,BCL2L13:NM_001270727:exon5:c.C920T:p.A307V,BCL2L13:NM_001270730:exon5:c.C506T:p.A169V,BCL2L13:NM_001270726:exon6:c.C1064T:p.A355V,BCL2L13:NM_001270729:exon6:c.C506T:p.A169V,BCL2L13:NM_001270731:exon6:c.C506T:p.A169V,BCL2L13:NM_015367:exon7:c.C992T:p.A331V	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00375182721427	.	0.000599042	0.0006	0	0	0.0002	0	0	0	0.0039	0.0004592	71	154602	rs559607869	0.0003	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0036	0.0035	8.961e-05	2.236e-05	0	0.0002	0	0	1.529e-05	0.0001	0.0040	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	9.231e-05	0.0033	0.0028	0	0	0	0	0.0002	0	0	0	0	0.0048	0.02	0.49613	D	0.168	0.42436	T	0.382	0.34403	B	0.043	0.24256	B	0.246058	0.03615	N	1.537360	1	0.08975	N	0.805	0.20218	L	0.9	0.45248	T	-1.35	0.33598	N	0.03	0.01825	-1.0277	0.21200	T	0.066	0.27156	T	10	0.004007131	0.00077	T	0.003752	0.08713	T	0.025	0.05312	0.154	0.05752	0.541149246611	0.53767	0.11723606635027624	0.11651	0.128331405689	0.14471	0.34862190485	0.17719	T	0.006287	0.05726	T	-0.647195	0.00075	T	-0.702571	0.05686	T	0.0192073109827909	0.00627	T	0.626337	0.24975	T	0.026625985	0.01743	0.041585024	0.04759	0.026625985	0.01743	0.041585024	0.04758	-3.678	0.19496	T	.	.	0.074	0.10787	B	.;.;.;.;.	.;.;.;.;.	1.284561	0.16845	12.80	0.98990317956338503	0.49922	0.31413	0.24331	N	AEFDBIJ	0.135708	0.25613	N	-0.95334397993981	0.09618	0.4559837	-1.02514837883639	0.09233	0.4582256	0.99999970227039	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.62	1.44	0.21647	1.749000	0.37946	0.217000	0.16029	-0.257000	0.07002	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.757:0.1552:0.0877	8.389	0.31679	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	1657.33	33	chr22	17727068	.	C	T	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=922;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.269;SOR=0.618	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1671,0,1234	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	1/1:0,184:184:99:.:.:5504,552,0:.	2	12	5	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-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	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:9,4:13:93:93,0,205	5	0	13	1
chr22	22646411	22646413	CTC	-	exonic	GGTLC2	.	nonframeshift deletion	GGTLC2:NM_199127:exon1:c.66_68del:p.S23del,GGTLC2:NM_001282879:exon2:c.66_68del:p.S23del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.00159744	0.0004	0.0027	0.0005	0	0	0.0002	0	0	0.0003458	9	26028	rs577474809	0.0002	0.0008	0.0002	0.0001	0.0030	0.0001	0.0001	0.0025	0.0023	0.0030	0.0003	0.0001	0	1.918e-05	0	8.442e-05	0.0002	1.179e-05	0.0008	0.0039	0.0009	0.0007	0.0025	0.0006	0.0006	0.0020	0.0018	0.0025	0	0.0004	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	259.29	36	chr22	22646410	.	TCTC	T	259.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.16;MQRankSum=0.106;QD=5.89;ReadPosRankSum=0.164;SOR=0.849	GT:AD:DP:GQ:PL	0/1:35,9:44:99:273,0,1422	18	0	1	0
chr22	23059706	23059706	G	A	exonic	RSPH14	.	nonsynonymous SNV	RSPH14:NM_014433:exon7:c.C803T:p.A268V	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0106011827963	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0	0.0001164	18	154602	rs140606064	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0009	0.0007	3.239e-05	0.0002	0	0	0	0.0018	0.0001	0.0002	8.031e-05	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0002	0.0002	0	0	0.0005	0	0	0	0	0.0002	0.0005	0.0006	0.031	0.45039	D	0.005	0.72224	D	0.996	0.68779	D	0.953	0.69275	D	0.004139	0.34080	N	0.285149	0.999869	0.50061	D	.	.	.	0.92	0.44461	T	-1.95	0.45222	N	0.653	0.66358	-0.6749	0.61607	T	0.255	0.62541	T	10	0.45600924	0.58993	T	0.010601	0.27324	T	0.280	0.59740	.	.	0.518254980372	0.51468	0.33443936314694356	0.33356	0.248300005588	0.27391	0.444015085697	0.31126	T	0.040686	0.25608	T	-0.179481	0.23813	T	-0.196652	0.54963	T	0.257535248994827	0.23206	T	0.772323	0.40326	T	0.11730429	0.27657	0.17385054	0.39740	0.11730429	0.27657	0.17385054	0.39739	-7.253	0.55861	T	.	.	0.436	0.61526	A	.	.	4.427898	0.68635	25.3	0.99906332910021234	0.97726	0.97561	0.75557	D	AEFBI	0.702826	0.65906	D	0.680938055534047	0.78383	6.860644	0.614054985387767	0.75960	6.403833	0.999999946336363	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.038000	0.76262	11.268000	0.91307	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0:0.0:1.0:0.0	14.318	0.66020	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	1554.33	43	chr22	23059706	.	G	A	1554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.151;DP=751;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-1.722;SOR=0.885	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1568,0,1090	18	0	1	0
chr22	25039111	25039111	G	A	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.G1981A:p.D661N	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0456345964243	.	.	.	.	.	.	.	.	.	.	0.0010373	27	26028	rs866316426	0.0008	0.0008	0.0010	0.0007	0.0257	0.0008	0.0008	0.0243	0.0237	0.0257	0.0020	0	0	4.085e-05	0.0018	0.0001	0.0019	1.262e-05	0.0070	0.0070	0.0076	0.0065	0.0244	0.0067	0.0065	0.0231	0.0226	0.0244	0	0.0024	0	0	9.416e-05	0	0.0002	0.0038	0	0.012	0.54683	D	0.468	0.12316	T	0.95	0.53885	P	0.55	0.49239	P	0.403455	0.13093	N	0.683849	1	0.08975	N	1.59	0.40313	L	.	.	.	-1.97	0.45587	N	0.162	0.17002	-1.0810	0.07156	T	0.066	0.27087	T	9	0.007650614	0.00174	T	0.045635	0.62075	D	0.095	0.27398	0.114	0.02306	0.368743488249	0.36480	0.030719156745577358	0.03020	.	.	0.284685313702	0.08154	T	0.016286	0.13489	T	-0.269046	0.11863	T	-0.624242	0.10854	T	0.444852560758591	0.30607	T	0.606339	0.22814	T	0.081811816	0.18815	0.06780625	0.14079	0.081811816	0.18815	0.06780625	0.14078	-4.328	0.28568	T	.	.	0.146	0.40392	B	.;.	.;.	2.197134	0.28021	17.66	0.98112702264888041	0.38367	0.51594	0.28932	D	AEFBI	0.068294	0.13466	N	-0.284687483302233	0.29739	1.651887	-0.404339618092081	0.24870	1.364323	0.00433132592221845	0.10505	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	1.83	0.24279	1.535000	0.35667	4.293000	0.42917	0.676000	0.76740	0.662000	0.28277	0.999000	0.35428	0.012000	0.09680	0.1074:0.1986:0.694:0.0	6.667	0.22237	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	2376.33	41	chr22	25039111	.	G	A	2376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.003;DP=983;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=-1.159;SOR=0.624	GT:AD:DP:GQ:PL	0/1:49,84:133:99:2390,0,1168	18	0	1	0
chr22	25828955	25828955	A	G	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon15:c.A2966G:p.Q989R,MYO18B:NM_032608:exon15:c.A2966G:p.Q989R	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	415	1102	5	0	0	5	0.00226347	.	.	YES	729094	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.248	.	0.0036	0.00339457	0.0013	0.0142	0.0008	0	0	4.52e-05	0	6.154e-05	0.0011837	183	154602	rs61738745	0.0005	0.0005	0.0006	0.0004	0.0150	0.0005	0.0004	0.0139	0.0135	0.0150	0.0010	0	0	0	0.0021	3.777e-05	0.0015	0.0001	0.0041	0.0041	0.0042	0.0040	0.0138	0.0038	0.0037	0.0128	0.0125	0.0138	0	0.0030	0	0	0	0	2.94e-05	0.0024	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.267	0.31683	B	0.079	0.28749	B	0.000086	0.51296	D	0.126707	0.523214	0.31552	N	0.655	0.16177	N	-0.59	0.71543	T	-1.95	0.45222	N	0.296	0.33469	-0.6196	0.64005	T	0.137	0.45260	T	10	0.010510474	0.00233	T	.	.	.	0.248	0.55615	.	.	0.785394474228	0.78341	0.31960329064927756	0.31873	0.0756700949329	0.08493	0.314815461636	0.12636	T	0.339198	0.70837	T	-0.450228	0.01126	T	-0.407822	0.32477	T	0.0751334958163087	0.09353	T	0.744526	0.36463	T	0.48491037	0.66197	0.58684665	0.76037	0.51201874	0.67798	0.5374047	0.73267	-7.023	0.54303	T	.	.	0.081	0.08272	B	.;.;.	.;.;.	2.543547	0.32911	19.18	0.98461709912784012	0.41745	0.97652	0.76172	D	AEFDBI	0.847681	0.76453	D	-0.194427667152266	0.33366	1.892142	-0.0690407108954447	0.36678	2.137572	0.999999995749592	0.74766	0.487112	0.14033	0	0.491513	0.07743	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.69	4.69	0.58546	5.789000	0.68677	6.667000	0.56266	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	1.0:0.0:0.0:0.0	13.119	0.58733	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII 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	1	0	0	0	0	1	0	0.003021	0.005051	0.006793	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	869.33	35	chr22	25828955	.	A	G	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.403;DP=736;ExcessHet=0;FS=9.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.48;SOR=1.748	GT:AD:DP:GQ:PL	0/1:46,36:82:99:883,0,1133	18	0	1	0
chr22	26026570	26026570	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.G6599A:p.R2200Q,MYO18B:NM_032608:exon43:c.G6596A:p.R2199Q	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	717378	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.024671889329	0.0023	0.00179712	0.0009	0.0084	0.0004	0.0001	0	0.0003	0	6.058e-05	0.0007633	118	154602	rs114927091	0.0003	0.0003	0.0004	0.0003	0.0086	0.0003	0.0003	0.0078	0.0075	0.0086	0.0004	0	2.519e-05	0	0.0003	0.0001	0.0006	8.115e-05	0.0024	0.0024	0.0024	0.0024	0.0081	0.0022	0.0021	0.0074	0.0071	0.0081	0	0.0007	0	0	0	0	7.353e-05	0.0038	0.0002	0.558	0.06441	T	0.059	0.45961	T	0.052	0.22494	B	0.002	0.06944	B	0.975827	0.07809	N	1.016100	1	0.08975	N	0.885	0.21608	L	-2.18	0.86888	D	-0.25	0.11008	N	0.088	0.07398	-0.7666	0.57044	T	0.329	0.69699	T	10	0.0048083365	0.00102	T	0.024672	0.47657	T	0.166	0.42578	.	.	0.494366844524	0.49069	0.2282878778568734	0.22743	0.0752588783894	0.08437	0.19523255527	0.00332	T	0.027359	0.20051	T	-0.450309	0.01125	T	-0.412792	0.31904	T	0.00424631638839746	0.00045	T	0.517648	0.16760	T	0.027252443	0.01890	0.027956918	0.00989	0.027252443	0.01890	0.027956918	0.00989	-5.596	0.42755	T	.	.	0.070	0.03625	B	.;.;.	.;.;.	-0.400508	0.02210	0.221	0.92721476818637438	0.22219	0.07375	0.13395	N	AEFBCI	0.079736	0.16110	N	-1.42858267169606	0.02391	0.1055101	-1.57283726930812	0.01823	0.08305085	0.986935476100767	0.31153	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.8	-7.37	0.01266	-0.636000	0.05562	-3.747000	0.02564	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.4514:0.1178:0.3107:0.1201	2.505	0.04359	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	7101.33	33	chr22	26026570	.	G	A	7101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=1433;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.874;SOR=0.681	GT:AD:DP:GQ:PL	0/1:301,282:583:99:7115,0,7018	18	0	1	0
chr22	31125007	31125007	T	G	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.T268G:p.C90G,INPP5J:NM_001284286:exon3:c.T67G:p.C23G	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	.	0.00339457	0.0016	0.0049	0.0051	0	0	0.0018	0.0031	0.0003	0.0007503	116	154602	rs200108828	0.0008	0.0008	0.0008	0.0008	0.0063	0.0008	0.0007	0.0047	0.0041	0.0019	0.0031	0.0048	2.717e-05	0	0.0063	0.0006	0.0019	0.0002	0.0020	0.0020	0.0020	0.0020	0.0076	0.0018	0.0018	0.0065	0.0061	0.0026	0	0.0076	0.0046	0	0	0.0272	0.0007	0.0047	0.0004	0.026	0.48642	D	0.112	0.37037	T	0.003	0.11197	B	0.004	0.10090	B	0.032437	0.25031	N	0.291605	1	0.08975	N	0	0.06538	N	-4.33	0.97267	D	-0.47	0.84954	N	0.192	0.21056	-0.1374	0.79228	T	0.731	0.90801	D	8	0.005458653	0.00120	T	.	.	.	0.261	0.57352	.	.	0.660296042158	0.65745	0.07140672466604071	0.07077	.	.	0.399773299694	0.25037	T	0.097426	0.40023	T	-0.213008	0.18958	T	-0.0830513	0.64680	T	0.00530926705725693	0.00057	T	0.562444	0.20426	T	0.21921891	0.44448	0.15178046	0.35738	0.21921891	0.44448	0.15178046	0.35737	-2.271	0.04399	T	.	.	0.065	0.02797	B	.;.;.	.;.;.	1.758009	0.22363	15.59	0.93198603592180307	0.22866	0.07939	0.13924	N	AEFDBI	0.146826	0.27037	N	-0.567081933058972	0.19952	1.048188	-0.538306579482932	0.21116	1.140829	0.999990306558255	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.22	3.19	0.35720	-0.011000	0.12659	0.334000	0.17313	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.0:0.1182:0.0:0.8818	5.827	0.17812	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	3461.33	42	chr22	31125007	.	T	G	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.254;DP=844;ExcessHet=0;FS=4.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-0.474;SOR=0.491	GT:AD:DP:GQ:PL	0/1:97,89:188:99:3475,0,3774	18	0	1	0
chr22	31125008	31125008	G	C	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G269C:p.C90S,INPP5J:NM_001284286:exon3:c.G68C:p.C23S	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	0.00339457	0.0016	0.0050	0.0054	0	0	0.0018	0.0032	0.0003	0.0007503	116	154602	rs200731160	0.0008	0.0008	0.0008	0.0008	0.0063	0.0007	0.0007	0.0047	0.0041	0.0019	0.0031	0.0047	2.722e-05	0	0.0063	0.0006	0.0019	0.0002	0.0020	0.0020	0.0020	0.0020	0.0076	0.0018	0.0018	0.0065	0.0061	0.0026	0	0.0076	0.0046	0	0	0.0272	0.0007	0.0047	0.0004	1.0	0.02021	T	1.0	0.03126	T	0.0	0.02946	B	0.0	0.01387	B	0.032437	0.25031	N	0.291605	1	0.08975	N	-0.895	0.01383	N	-4.15	0.96798	D	-0.36	0.66780	N	0.059	0.03069	-0.2156	0.77268	T	0.689	0.89246	D	8	0.004211813	0.00084	T	.	.	.	0.213	0.50496	0.151	0.05441	0.634924397808	0.63193	0.050284078538633245	0.04971	.	.	0.405586212873	0.25845	T	0.123884	0.44855	T	-0.261512	0.12723	T	-0.152724	0.59002	T	0.0059132479024692	0.00065	T	0.466353	0.14239	T	0.049629543	0.08842	0.05643651	0.10084	0.049629543	0.08842	0.05643651	0.10084	0.346	0.00247	T	.	.	0.071	0.04975	B	.;.;.	.;.;.	1.056799	0.14384	10.96	0.7398566883739679	0.10528	0.00199	0.01145	N	AEFDBI	0.026012	0.01879	N	-0.664007444353149	0.17053	0.8742746	-0.65829698980491	0.18007	0.9600743	0.999973128571662	0.50053	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.22	2.11	0.26299	1.233000	0.32250	3.194000	0.36718	0.676000	0.76740	0.002000	0.15269	0.709000	0.26280	0.997000	0.79791	0.0:0.6402:0.2421:0.1177	5.613	0.16694	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	3461.33	42	chr22	31125008	.	G	C	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.475;DP=842;ExcessHet=0;FS=4.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-0.413;SOR=0.491	GT:AD:DP:GQ:PL	0/1:97,89:188:99:3475,0,3779	18	0	1	0
chr22	31137022	31137022	C	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon5:c.G1085A:p.R362H	.	419	1101	2	0	0	2	0.000907441	.	.	.	4041386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00945466134853	.	.	9.299e-05	0	0	0	0	0.0001	0	0.0001	4.53e-05	7	154602	rs758319025	6.246e-05	6.909e-05	4.817e-05	7.714e-05	0.0003	5.124e-05	4.787e-05	0.0002	0.0002	0	0.0002	0	0.0001	4.058e-05	0	3.809e-05	0.0002	0.0003	7.885e-05	7.879e-05	8.994e-05	6.724e-05	0.0004	4.497e-05	3.512e-05	6.808e-05	2.85e-05	2.413e-05	0	0.0002	0	0.0004	0	0	8.819e-05	0	0	0.156	0.24090	T	0.229	0.25210	T	0.617	0.39849	P	0.13	0.32896	B	0.179492	0.17142	N	0.615475	0.875636	0.28135	N	2.05	0.56469	M	1.4	0.33630	T	-0.73	0.20576	N	0.242	0.27316	-0.9792	0.35186	T	0.073	0.29419	T	10	0.12198609	0.23134	T	0.009455	0.24763	T	0.055	0.15663	.	.	0.477143196806	0.47344	0.5747708919881857	0.57406	0.110558448003	0.12480	0.314344227314	0.12564	T	0.091672	0.38844	T	-0.414512	0.01856	T	-0.543051	0.17997	T	0.0360759922671068	0.02993	T	0.775622	0.40735	T	0.10756212	0.25435	0.06222285	0.12138	0.10756212	0.25435	0.06222285	0.12138	-6.354	0.49149	T	.	.	0.101	0.17530	B	.	.	2.328545	0.29829	18.25	0.99666848619114168	0.78330	0.67284	0.33377	D	AEFDBI	0.149723	0.27386	N	0.0962969758639186	0.46289	2.871631	0.156649822742096	0.47495	2.978892	0.995772631325026	0.34318	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.62	3.53	0.39533	1.113000	0.30798	-1.360000	0.05625	0.599000	0.40250	0.714000	0.28761	0.000000	0.08366	0.606000	0.31539	0.0:0.8639:0.0:0.1361	10.733	0.45310	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000524	0.000000	0.001408	0.003012	0.000000	0.000000	0.000000	0.000000	0.02632	415.33	35	chr22	31137022	.	C	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=678;ExcessHet=0;FS=1.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.603;SOR=0.318	GT:AD:DP:GQ:PL	0/1:17,17:34:99:429,0,373	18	0	1	0
chr22	31440757	31440757	C	T	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon16:c.G2141A:p.R714H,EIF4ENIF1:NM_001164501:exon18:c.G2663A:p.R888H,EIF4ENIF1:NM_019843:exon18:c.G2663A:p.R888H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0245974050217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985667032	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0001	1.584e-05	1.356e-05	4.358e-05	2.767e-05	2.988e-05	0.0001	0	7.557e-05	0	0	1.619e-05	4.969e-05	2.319e-05	4.601e-05	4.597e-05	3.855e-05	5.382e-05	0.0001	2.11e-05	1.527e-05	2.263e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.88e-05	0.0005	0	0.0	0.91255	D	0.013	0.65728	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	2.25	0.63811	M	.	.	.	-1.49	0.36385	N	0.5	0.53269	-0.3852	0.72491	T	0.384	0.74017	T	9	0.26955372	0.44481	T	0.024597	0.47587	T	0.153	0.40148	0.219	0.14078	0.481781477641	0.47810	0.530195568244248	0.52943	0.70105398773	0.61125	0.563114583492	0.47706	T	0.285089	0.65787	T	-0.106239	0.35392	T	-0.135336	0.60520	T	0.468068420886993	0.31460	T	0.949805	0.80758	D	0.39580792	0.60441	0.24225852	0.49643	0.39580792	0.60441	0.24225852	0.49642	-4.066	0.24787	T	.	.	0.119	0.30423	B	.;.;.;.	.;.;.;.	5.191224	0.87067	29.1	0.99925798004271804	0.99042	0.91627	0.53923	D	AEFDBCI	0.526702	0.54895	D	0.567701735559261	0.71164	5.609763	0.605033290165779	0.75304	6.287037	0.999971750470367	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	4.86	0.62624	4.532000	0.60321	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9289:0.0:0.0711	14.555	0.67688	493	0.76500	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1703.33	35	chr22	31440757	.	C	T	1703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=776;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.536;SOR=1.045	GT:AD:DP:GQ:PL	0/1:81,66:147:99:1717,0,1933	18	0	1	0
chr22	32043316	32043316	C	T	exonic	SLC5A1	.	nonsynonymous SNV	SLC5A1:NM_000343:exon1:c.C35T:p.A12V	Glucose/galactose malabsorption, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	493545	not_provided|not_specified|Congenital_glucose-galactose_malabsorption	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.0850892988681	0.0007	0.000399361	0.0010	9.812e-05	0.0003	0	0	0.0014	0.0023	0.0009	0.0008667	134	154602	rs150288967	0.0006	0.0006	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0008	8.961e-05	0.0004	0.0145	2.519e-05	0	0.0016	0.0003	0.0014	0.0010	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0008	0.0006	4.81e-05	0	0.0012	0.0199	0	9.409e-05	0.0068	0.0006	0.0024	0.0008	0.061	0.37118	T	0.406	0.14725	T	0.001	0.07471	B	0.001	0.04355	B	0.098823	0.02528	N	1.733900	1	0.08975	N	1.905	0.50856	L	-2.06	0.85875	D	-1.46	0.35792	N	0.061	0.03283	-0.7007	0.60404	T	0.465	0.79317	T	10	0.004654914	0.00097	T	0.085089	0.74461	D	0.505	0.78662	.	.	0.747006263103	0.74472	0.266694549339179	0.26582	0.463755388892	0.45870	0.317358285189	0.13020	T	0.090024	0.38498	T	-0.18738	0.22644	T	-0.0982831	0.63530	T	0.0174199961141006	0.00479	T	0.330167	0.06908	T	0.0670848	0.14496	0.11304056	0.27278	0.058023643	0.11621	0.14435951	0.34274	-3.989	0.23639	T	.	.	0.085	0.10352	B	.	.	1.013699	0.13930	10.49	0.99136788943025422	0.53410	0.08302	0.14249	N	AEFDBHCI	0.094886	0.19179	N	-0.763499697619612	0.14269	0.7094192	-0.767030968859746	0.15305	0.8042273	0.953056415919183	0.28052	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	3.73	0.41982	1.107000	0.30724	-0.250000	0.10515	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.897:0.0:0.103	8.748	0.33760	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1158.33	35	chr22	32043316	.	C	T	1158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.482;SOR=0.651	GT:AD:DP:GQ:PL	0/1:84,54:138:99:1172,0,1991	18	0	1	0
chr22	32149774	32149774	C	T	exonic	C22orf42	.	nonsynonymous SNV	C22orf42:NM_001010859:exon8:c.G661A:p.E221K	.	441	1078	3	0	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00436476488049	.	0.000399361	0.0007	0	0	0	0	4.771e-05	0	0.0059	0.0005692	88	154602	rs563830942	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0040	0.0038	0	3.368e-05	0	0	0	0.0008	4.476e-05	0.0002	0.0044	0.0002	0.0002	9.04e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	6.591e-05	0	0	0	0	7.365e-05	0	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.593	0.39147	P	0.486	0.47228	P	.	.	.	.	1	0.08975	N	0	0.06538	N	1.81	0.25182	T	-1.35	0.33598	N	0.124	0.11626	-1.0060	0.28156	T	0.038	0.16333	T	7	0.005237311	0.00114	T	0.004365	0.10624	T	0.058	0.16647	0.257	0.19845	0.0482279557977	0.04254	0.02560558606038604	0.02511	0.150402291705	0.16965	.	.	.	0.010547	0.09515	T	-0.634414	0.00090	T	-0.683528	0.06771	T	0.470752596855164	0.31558	T	.	.	.	0.10578363	0.25011	0.14824407	0.35050	0.10578363	0.25011	0.14824407	0.35049	-3.135	0.11703	T	.	.	0.206	0.43172	B	.	.	0.166358	0.05559	2.018	0.84110661042996693	0.15103	0.00334	0.01740	N	AEFI	0.036261	0.04805	N	-0.967770315542001	0.09298	0.4394741	-1.16080912236072	0.06576	0.3169771	6.34272039487377E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	-0.879000	0.04296	-6.766000	0.01312	-1.806000	0.00618	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	241	0.90582	.	.	.	.	.	.	Likely benign	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	1157.33	34	chr22	32149774	.	C	T	1157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.392;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.95;MQRankSum=1.47;QD=14.47;ReadPosRankSum=1.39;SOR=0.656	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1171,0,639	18	0	1	0
chr22	33316116	33316116	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon6:c.G661A:p.V221I,LARGE1:NM_001378630:exon7:c.G817A:p.V273I,LARGE1:NM_001378629:exon10:c.G1264A:p.V422I,LARGE1:NM_001362951:exon11:c.G1420A:p.V474I,LARGE1:NM_001362953:exon11:c.G1420A:p.V474I,LARGE1:NM_001378626:exon11:c.G1420A:p.V474I,LARGE1:NM_001378627:exon11:c.G1420A:p.V474I,LARGE1:NM_001378628:exon11:c.G1420A:p.V474I,LARGE1:NM_133642:exon11:c.G1420A:p.V474I,LARGE1:NM_001362949:exon12:c.G1420A:p.V474I,LARGE1:NM_001378624:exon12:c.G1420A:p.V474I,LARGE1:NM_001378625:exon12:c.G1420A:p.V474I,LARGE1:NM_004737:exon12:c.G1420A:p.V474I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	1	1515	5	1	0	7	0.00230491	.	.	.	101064	Muscular_dystrophy-dystroglycanopathy_type_B6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|LARGE1-related_disorder|not_specified|not_provided	MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0140547202504	0.0018	0.000199681	0.0009	0.0007	0.0003	0	0.0003	0.0014	0	0.0002	0.0008667	134	154602	rs150861748	0.0017	0.0017	0.0018	0.0016	0.0021	0.0016	0.0016	0.0020	0.0020	0.0004	0.0004	0	0	0.0004	0.0005	0.0021	0.0018	0.0002	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0006	0	0.0021	0	0.0002	0.171	0.22746	T	0.181	0.30339	T	0.544	0.37968	P	0.22	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.78	0.50721	T	-0.72	0.20358	N	0.467	0.50418	-0.8825	0.49561	T	0.172	0.51357	T	10	0.026062876	0.00783	T	0.014055	0.33919	T	0.091	0.26358	.	.	0.0934897674506	0.08844	0.37553958011509997	0.37467	0.476979885373	0.46820	0.68186455965	0.64537	T	0.337792	0.70714	T	-0.43068	0.01468	T	-0.404649	0.32845	T	0.023783041164279	0.01118	T	0.886311	0.67517	D	0.121630296	0.28597	0.104113966	0.24999	0.121630296	0.28597	0.104113966	0.24998	-5.569	0.45850	T	0.28357161420575144	0.37925	0.112	0.22061	B	.;.;.;.;.;.	.;.;.;.;.;.	3.001359	0.40103	21.1	0.99754828742882973	0.84537	0.94544	0.61510	D	AEFDGBI	0.567541	0.57309	D	0.0827991372445034	0.45662	2.818948	0.146428313028648	0.46952	2.93299	0.999963893892965	0.48965	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.564101	0.26826	0	.	.	5.26	4.25	0.49658	5.679000	0.67824	4.869000	0.45548	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.9263:0.0:0.0737	13.792	0.62637	858	0.34001	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001016	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1040.33	33	chr22	33316116	.	C	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=720;ExcessHet=0;FS=7.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.444;SOR=1.501	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1054,0,1037	18	0	1	0
chr22	36160788	36160788	C	A	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon1:c.G104T:p.G35V	.	416	1076	30	0	0	30	0.0137489	.	.	.	758066	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00399405702194	0.0008	0.00179712	0.0021	9.651e-05	0.0022	0	0.0002	0.0013	0.0011	0.0081	0.001934	299	154602	rs148885226	0.0013	0.0013	0.0011	0.0016	0.0080	0.0013	0.0013	0.0074	0.0072	5.974e-05	0.0021	0.0007	0	0.0002	0.0080	0.0009	0.0016	0.0078	0.0011	0.0011	0.0010	0.0013	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0031	0.0012	0.0002	0	0	0.0010	0.0014	0.0081	0.009	0.57480	D	0.023	0.57104	D	0.808	0.45299	P	0.356	0.43023	B	0.043271	0.01917	U	37.602300	1	0.81001	D	0	0.06538	N	3.31	0.06291	T	-0.27	0.11366	N	0.151	0.15469	-1.0002	0.29860	T	0.011	0.04321	T	10	0.0037358105	0.00069	T	0.003994	0.09462	T	0.077	0.22490	.	.	0.257786959452	0.25393	0.078363107641043	0.07772	0.691787299004	0.60617	0.210936486721	0.00852	T	0.001527	0.00969	T	-0.653267	0.00069	T	-0.707424	0.05429	T	0.0420518779235941	0.04064	T	0.286771	0.05140	T	0.057427566	0.11427	0.082281806	0.18768	0.057427566	0.11427	0.082281806	0.18767	-3.39	0.14922	T	.	.	0.154	0.34071	B	.	.	-0.212215	0.03029	0.463	0.88461662680239472	0.17995	0.05534	0.11427	N	ALL	0.105165	0.21021	N	-1.03137101328716	0.07958	0.3714873	-1.24005897005935	0.05280	0.2511918	0.99999999041564	0.74766	0.428477	0.06694	0	0.374146	0.05931	1	0.547309	0.15389	0	0.607083	0.38531	0	.	.	2.76	-5.08	0.02708	-2.118000	0.01412	-12.434000	0.00525	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2572:0.6312:0.1116	8.683	0.33384	471	0.78036	.	.	.	.	.	.	Likely benign	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	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.007576	0.02632	1319.33	50	chr22	36160788	.	C	A	1319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=922;ExcessHet=0;FS=4.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.549;SOR=0.463	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1333,0,1670	18	0	1	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|1:113,47:160:99:0|1:36265782_G_T:658,0,2914:36265782	13	0	5	1
chr22	37643739	37643739	C	T	exonic	SH3BP1	.	nonsynonymous SNV	SH3BP1:NM_001350055:exon7:c.C569T:p.T190M,SH3BP1:NM_018957:exon7:c.C569T:p.T190M	.	398	1093	29	2	0	33	0.0148716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0052	0.00179712	0.0049	0.0011	0.0052	0	0.0006	0.0072	0.0111	0.0022	0.00489	756	154602	rs149928566	0.0051	0.0051	0.0051	0.0052	0.0220	0.0050	0.0050	0.0189	0.0177	0.0020	0.0051	0.0176	0	0.0007	0.0220	0.0053	0.0068	0.0030	0.0043	0.0043	0.0045	0.0041	0.0063	0.0041	0.0039	0.0058	0.0056	0.0013	0	0.0045	0.0167	0.0002	0.0010	0.0272	0.0063	0.0080	0.0033	0.158	0.23905	T	0.151	0.32355	T	0.537	0.37852	P	0.084	0.29270	B	0.124827	0.18865	N	0.538685	0.999995	0.08975	N	1.12	0.28775	L	1.54	0.30133	T	-1.51	0.36787	N	0.075	0.04913	-0.9903	0.32525	T	0.015	0.06042	T	10	0.004835278	0.00103	T	.	.	.	0.021	0.04004	.	.	0.323615622048	0.31974	0.12693358750623449	0.12619	0.612962466754	0.55882	0.34674757719	0.17442	T	0.042278	0.26130	T	-0.614023	0.00120	T	-0.651052	0.08880	T	0.00465862241768883	0.00050	T	0.812719	0.46458	T	0.02873167	0.02255	0.061106727	0.11745	0.02873167	0.02255	0.061106727	0.11744	-4.639	0.32658	T	.	.	0.060	0.00995	B	.;.;.	.;.;.	1.131660	0.15185	11.65	0.94293149520776653	0.24596	0.17490	0.19860	N	AEFDGBHCI	0.078265	0.15787	N	-0.785081457740422	0.13697	0.6766855	-0.739479779124818	0.15981	0.8432177	0.999999219711855	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.639134	0.45391	0	0.683535	0.66460	0	.	.	5.08	-2.34	0.06321	-0.538000	0.06209	0.037000	0.13814	-0.172000	0.11096	0.001000	0.13787	0.001000	0.17328	0.843000	0.39806	0.0:0.3094:0.1327:0.5579	6.747	0.22653	934	0.15400	BAR domain|BAR domain|BAR domain;BAR domain|BAR domain|BAR 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	0.023713	0.020202	0.021739	0.052632	0.150000	0.025862	0.003067	0.015152	0.02632	399.33	35	chr22	37643739	.	C	T	399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.261;DP=660;ExcessHet=0;FS=7.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.967;SOR=0.157	GT:AD:DP:GQ:PL	0/1:24,17:41:99:413,0,659	18	0	1	0
chr22	38738676	38738676	G	A	exonic	SUN2	.	nonsynonymous SNV	SUN2:NM_001199579:exon16:c.C1921T:p.R641C,SUN2:NM_015374:exon16:c.C1858T:p.R620C,SUN2:NM_001199580:exon17:c.C1858T:p.R620C	.	412	1100	10	0	0	10	0.00452489	.	.	.	470275	Emery-Dreifuss_muscular_dystrophy|not_provided	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.734	0.357292652703	0.0009	0.000199681	0.0012	0.0003	0.0009	0	0	0.0019	0.0022	0.0002	0.001119	173	154602	rs141013997	0.0008	0.0008	0.0008	0.0009	0.0069	0.0008	0.0008	0.0052	0.0046	0.0001	0.0007	0.0192	0	0	0.0069	0.0004	0.0022	0.0005	0.0009	0.0009	0.0009	0.0010	0.0010	0.0008	0.0008	0.0006	0.0005	0.0002	0	0.0010	0.0193	0	9.413e-05	0.0034	0.0007	0.0019	0.0002	0.003	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	0.000351	0.45440	D	0.165044	0.999913	0.51042	D	2.085	0.57729	M	0.94	0.43672	T	-3.41	0.76496	D	0.812	0.84298	-0.6561	0.62447	T	0.253	0.62292	T	10	0.014749527	0.00310	T	0.357293	0.92422	D	0.734	0.90721	.	.	0.585991418203	0.58272	0.7488783698995153	0.74833	1.01764542329	0.74999	0.513557076454	0.40720	T	0.312551	0.68436	T	-0.310944	0.07665	T	-0.298687	0.44862	T	0.0222263088075782	0.00934	T	0.887811	0.61653	D	0.60911703	0.73181	0.36958334	0.62225	0.60911703	0.73182	0.36958334	0.62225	-8.165	0.62189	D	.	.	0.116	0.29116	B	.;.;.;.	.;.;.;.	5.177227	0.86797	29.0	0.9992864996795856	0.99222	0.96068	0.67388	D	AEFDBHCI	0.312712	0.41807	N	0.580855858544567	0.71982	5.734294	0.524369276541453	0.69633	5.388466	0.999927484877244	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.26	5.26	0.73479	1.923000	0.39685	7.498000	0.59452	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0789:0.0:0.9211:0.0	12.905	0.57542	824	0.40336	SUN domain|SUN domain;.;SUN domain|SUN domain;SUN domain|SUN 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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1376.33	36	chr22	38738676	.	G	A	1376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=766;ExcessHet=0;FS=3.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.666;SOR=0.421	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1390,0,1511	18	0	1	0
chr22	42127565	42127565	T	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon6:c.A902C:p.H301P,CYP2D6:NM_000106:exon7:c.A1055C:p.H352P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.177647855851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.053e-06	2.726e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.524e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.46129	D	0.074	0.42976	T	.	.	.	.	.	.	0.484237	0.12130	N	0.762168	1	0.08975	N	1.81	0.47622	L	-1.24	0.78967	T	-3.09	0.63438	D	0.304	0.34336	-0.4166	0.71500	T	0.426	0.76976	T	10	0.40390635	0.55759	T	0.177648	0.85303	D	0.180	0.45073	0.542	0.65446	0.354610295913	0.35065	0.6545135130065906	0.65387	0.280182966025	0.30498	0.220706656575	0.01351	T	0.016433	0.29563	T	-0.0451463	0.45181	T	-0.302626	0.44447	T	0.635708093643188	0.37856	D	0.477152	0.14354	T	0.26139203	0.49198	0.18418321	0.41454	0.26139203	0.49198	0.18418321	0.41453	-10.676	0.79696	D	.	.	0.224	0.45569	B	.;.;.;.;.	.;.;.;.;.	0.471841	0.08413	5.170	0.75113315284161797	0.10950	0.08957	0.14806	N	AEFDGI	0.562926	0.57032	D	-1.32661850245086	0.03373	0.1505889	-1.49969779477421	0.02347	0.107814	0.0182648794206403	0.13039	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	4.93	-5.98	0.02034	-1.511000	0.02364	-11.497000	0.00600	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0989:0.2372:0.0:0.6639	9.752	0.39646	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	131.33	45	chr22	42127565	.	T	G	131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.526;DP=3238;ExcessHet=0;FS=1.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=-17.2;QD=0.4;ReadPosRankSum=2.12;SOR=0.793	GT:AD:DP:GQ:PL	0/1:282,45:327:99:145,0,7833	18	0	1	0
chr22	42141270	42141270	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	149	61	15	1	92	0.233933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.877e-06	2.739e-06	4.308e-06	1.441e-06	0.0004	6.7e-07	4.5e-07	6.554e-05	2.656e-05	0	0	3.938e-05	0	0	0.0004	9.474e-07	0	0	6.659e-06	6.575e-06	0	1.365e-05	2.479e-05	0	0	.	.	2.479e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.482810	0.12146	N	0.761563	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.281	0.31814	-0.8072	0.54718	T	0.260	0.63044	T	9	0.0841884	0.14083	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	.	.	.	.	.	.	.	0.06523	0.32635	T	-0.281797	0.10477	T	-0.642559	0.09483	T	0.365946382284164	0.27640	T	0.648035	0.31596	T	0.16711937	0.37089	0.20275088	0.44319	0.16711937	0.37089	0.20275088	0.44318	-10.966	0.79472	D	.	.	0.100	0.27493	B	.;.	.;.	-0.260994	0.02792	0.382	0.80656769355235858	0.13306	0.03799	0.09128	N	AEFDBI	0.011720	0.00110	N	-1.32833464630932	0.03355	0.1497206	-1.4077913331324	0.03174	0.1475081	0.936367067644768	0.27251	0.252514	0.04256	0	0.221468	0.04790	0	0.295636	0.05589	0	0.083433	0.02327	0	.	.	3.91	-7.54	0.01189	-1.538000	0.02308	-9.223000	0.00850	-1.128000	0.01461	0.000000	0.06391	0.000000	0.08366	0.382000	0.26379	0.1071:0.3833:0.0:0.5096	7.750	0.28058	106	0.95650	.;.	.	.	.	.	.	Likely benign	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	20018.9	421	chr22	42141270	.	T	G	20018.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.254;DP=2761;ExcessHet=0.3441;FS=4.1;InbreedingCoeff=0.1244;MLEAC=1;MLEAF=0.026;MQ=52.88;MQRankSum=3.17;QD=13.78;ReadPosRankSum=0.7;SOR=0.48	GT:AD:DP:GQ:PL	0/1:0,57:165:99:5367,3341,4266	18	0	1	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Likely benign	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	0.016014	0.000000	0.000000	0.023810	0.000000	0.000000	0.016393	0.050000	0.05556	455.61	20	chr22	46262935	.	C	T	455.61	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.09;DP=389;ExcessHet=0.119;FS=4.404;InbreedingCoeff=-0.0715;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.889;SOR=0.605	GT:AD:DP:GQ:PL	0/1:17,8:25:99:210,0,414	16	0	2	1
chr22	46377186	46377186	A	G	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon24:c.T7459C:p.F2487L,CELSR1:NM_014246:exon24:c.T7459C:p.F2487L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0134940339213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937486076	2.737e-06	3.42e-06	2.723e-06	2.751e-06	0.0007	6.4e-07	4.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.05881	T	0.515	0.10643	T	0.004	0.12183	B	0.029	0.21540	B	0.001016	0.40652	U	0.158142	0.588084	0.31043	N	0.88	0.21560	L	1.61	0.28391	T	-1.93	0.44852	N	0.517	0.54757	-1.0764	0.08063	T	0.043	0.18368	T	10	0.31491154	0.48928	T	0.013494	0.32933	T	0.061	0.17616	0.405	0.43738	0.373944490328	0.37009	0.3890781595166675	0.38822	0.21363709283	0.23881	0.710575580597	0.68677	T	0.217602	0.58010	T	-0.153573	0.27755	T	-0.458373	0.26776	T	0.40914335467823	0.29285	T	0.679032	0.28770	T	0.08361173	0.19316	0.0767228	0.17021	0.08361173	0.19316	0.0767228	0.17021	-4.051	0.24564	T	.	.	0.622	0.69763	P	.	.	2.340894	0.30003	18.30	0.93886807653458404	0.23908	0.88052	0.47814	D	AEFDGBCI	0.567579	0.57311	D	-0.375534282884014	0.26343	1.437013	-0.215973007711238	0.30962	1.747952	0.999999828668846	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	4.81	3.76	0.42368	4.655000	0.61171	4.899000	0.45841	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.9137:0.0:0.0863:0.0	9.748	0.39622	970	0.06235	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1227.33	33	chr22	46377186	.	A	G	1227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.232;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-1.071;SOR=0.636	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1241,0,1468	18	0	1	0
chr22	46707915	46707915	C	T	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon6:c.G643A:p.A215T	.	426	1094	2	0	0	2	0.000913242	.	.	.	2343233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00785244467332	.	.	3.314e-05	0	8.654e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs753362414	6.5e-05	6.567e-05	6.671e-05	6.326e-05	0.0009	5.429e-05	5.042e-05	0.0003	0.0002	0	0.0002	0	0.0001	0	0.0009	4.137e-05	0.0002	0.0003	5.909e-05	5.905e-05	5.14e-05	6.714e-05	0.0004	3.075e-05	2.209e-05	8.87e-05	5.282e-05	2.405e-05	0	0.0003	0	0	0	0.0034	1.47e-05	0	0.0004	0.438	0.09319	T	0.476	0.12037	T	0.593	0.39147	P	0.108	0.31289	B	0.020697	0.26986	N	0.430986	0.980628	0.39686	D	1.845	0.48678	L	2.11	0.19860	T	-1.36	0.33798	N	0.119	0.10911	-1.0853	0.06353	T	0.050	0.21300	T	10	0.067810535	0.09501	T	0.007852	0.20824	T	0.039	0.10176	.	.	0.208816687407	0.20498	0.38977542830464823	0.38892	0.608113782558	0.55596	0.454645335674	0.32579	T	0.126956	0.45367	T	-0.446847	0.01179	T	-0.563485	0.16050	T	0.106128573417664	0.13019	T	0.931507	0.74506	D	0.07328052	0.16363	0.13413227	0.32148	0.07328052	0.16362	0.13413227	0.32147	-9.971	0.73738	D	.	.	0.078	0.06896	B	.	.	3.075997	0.41366	21.3	0.99787494823992418	0.87396	0.49169	0.28372	N	AEFDBI	0.044106	0.07055	N	-0.310280778933876	0.28758	1.588817	-0.29829073775611	0.28155	1.567566	0.0335242695507756	0.14110	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.01	2.73	0.31266	1.304000	0.33087	4.579000	0.43912	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.818000	0.38543	0.5622:0.4378:0.0:0.0	9.942	0.40756	702	0.57624	Diacylglycerol kinase, catalytic domain|Diacylglycerol kinase, catalytic domain|Diacylglycerol kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1631.33	34	chr22	46707915	.	C	T	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.118;DP=766;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.406;SOR=0.731	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1645,0,1575	18	0	1	0
chr22	49922287	49922325	CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	456	944	80	6	36	128	0.0464646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6401.57	82	chr22	49922287	.	CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	6401.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.743;DP=1100;ExcessHet=0.0506;FS=0.906;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=0.616;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,25:54:99:.:.:967,0,1138:.	18	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5161.29	82	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5161.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.299;DP=1193;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.471;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,25:54:99:.:.:967,0,1138:.	15	1	3	0
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3348.83	6	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	3348.83	.	AC=5;AF=0.139;AN=36;BaseQRankSum=2.44;DP=763;ExcessHet=0;FS=1.892;InbreedingCoeff=0.5813;MLEAC=4;MLEAF=0.111;MQ=43.64;MQRankSum=0.774;QD=9.82;ReadPosRankSum=0.111;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,0:0:84:.:.:1358,84,0:.	15	2	1	1
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	118.47	111	chrX	8466215	.	A	*	118.47	.	AC=4;AF=0.154;AN=26;BaseQRankSum=0.485;DP=1426;ExcessHet=0.0188;FS=4.828;InbreedingCoeff=0.3977;MLEAC=5;MLEAF=0.192;MQ=42.76;MQRankSum=-1.282;QD=0.44;ReadPosRankSum=-0.524;SOR=0.973	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1320,153,0	11	2	0	6
chrX	8795281	8795281	C	T	exonic	FAM9A	.	nonsynonymous SNV	FAM9A:NM_001171186:exon7:c.G628A:p.A210T,FAM9A:NM_174951:exon7:c.G628A:p.A210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.000525674244889	9.5e-05	.	0.0001	0.0004	0.0004	0	0	3.992e-05	0	0	5.17e-05	8	154602	rs373401877	1.107e-05	1.095e-05	6.852e-06	1.977e-05	0.0001	5.9e-06	4.66e-06	3.909e-05	2.324e-05	0.0001	0.0001	0	0	0	0	4.792e-06	2.202e-05	0	1.832e-05	1.753e-05	2.588e-05	0	6.706e-05	3.04e-06	1.14e-06	1.11e-05	4.15e-06	6.706e-05	0	0	0	0	0	0	0	0	0	0.168	0.23007	T	0.119	0.36101	T	0.976	0.58310	D	0.695	0.53983	P	.	.	.	.	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.19	0.09965	N	0.221	0.24758	-1.0451	0.15796	T	0.049	0.21026	T	7	0.11386427	0.21406	T	5.26E-4	0.00174	T	0.051	0.14325	.	.	0.674760430698	0.67200	0.020510358393099854	0.02004	0.0523993487686	0.05771	.	.	.	0.009305	0.08481	T	-0.288381	0.09799	T	-0.652016	0.08814	T	0.029644242234798	0.01935	T	0.240376	0.03449	T	0.12773098	0.29881	0.1897135	0.42333	0.12773098	0.29881	0.1897135	0.42332	-7.855	0.60078	D	.	.	0.271	0.50581	B	.;.	.;.	0.580841	0.09490	6.271	0.83840180052474245	0.14949	0.00282	0.01521	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.488778160286824	0.20845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.15	0.14178	0.271000	0.18390	-0.496000	0.08830	0.225000	0.18106	0.006000	0.17386	0.000000	0.08366	0.009000	0.08673	.	.	.	987	0.02648	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1339.81	33	chrX	8795281	.	C	T	1339.81	.	AC=2;AF=0.053;AN=38;DP=765;ExcessHet=0;FS=6.143;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.053;MQ=60;QD=8.93;SOR=1.21	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1367,126,0	18	1	0	0
chrX	22094022	22094022	G	T	exonic	PHEX	.	nonsynonymous SNV	PHEX:NM_000444:exon7:c.G772T:p.V258L,PHEX:NM_001282754:exon7:c.G772T:p.V258L	Hypophosphatemic rickets, X-linked dominant, X-linked dominant	0	1521	0	1	0	2	0.00065703	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.126780372559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.15303	T	0.372	0.16376	T	0.629	0.40170	P	0.305	0.41207	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.03	0.55503	M	-0.72	0.72994	T	-1.31	0.32791	N	0.602	0.62018	-0.6084	0.64470	T	0.282	0.65409	T	10	0.5414906	0.63745	D	0.12678	0.80850	D	0.299	0.61955	0.494	0.58206	0.843223710882	0.84172	0.7597898765985864	0.75926	1.15950770778	0.79429	0.719960093498	0.70040	T	0.435163	0.78200	T	0.0899712	0.63185	D	-0.108539	0.62727	T	0.921125590801239	0.58062	D	0.865513	0.56452	D	0.73795056	0.80175	0.715292	0.83197	0.73795056	0.80177	0.715292	0.83198	-7.178	0.55323	T	0.2793106880625862	0.37435	0.154	0.34160	B	.	.	3.554891	0.49988	22.9	0.9904021891567969	0.51006	0.97158	0.73031	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999995069681	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.47	5.47	0.80345	6.887000	0.75425	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.406	0.90479	571	0.70397	Peptidase M13, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2375.81	41	chrX	22094022	.	G	T	2375.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.46;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2403,234,0	18	1	0	0
chrX	49689423	49689423	T	C	exonic	PAGE1	.	nonsynonymous SNV	PAGE1:NM_003785:exon5:c.A413G:p.E138G	.	438	1017	40	27	0	94	0.0441729	.	.	.	706262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0057	0.00794702	0.0100	0.0011	0.0029	0	0.0073	0.0099	0.0174	0.0319	0.0093595	1447	154602	rs151117508	0.0091	0.0092	0.0086	0.0102	0.0574	0.0089	0.0088	0.0510	0.0486	0.0013	0.0032	0.0136	9.123e-05	0.0084	0.0574	0.0080	0.0095	0.0311	0.0074	0.0080	0.0075	0.0070	0.0277	0.0070	0.0068	0.0219	0.0198	0.0014	0	0.0069	0.0186	0.0003	0.0103	0.0515	0.0095	0.0102	0.0277	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.795	0.57940	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.42	0.15376	T	-1.7	0.40468	N	0.098	0.07949	-1.0567	0.12595	T	0.052	0.22269	T	9	0.004495859	0.00092	T	.	.	.	0.069	0.20116	.	.	.	.	0.03342421481623945	0.03290	0.247465964204	0.27293	0.304119497538	0.11019	T	0.041785	0.25971	T	-0.607123	0.00132	T	-0.622554	0.10987	T	0.0351667141618346	0.02836	T	0.621038	0.23867	T	0.1517187	0.34476	0.17844623	0.40515	0.1517187	0.34476	0.17844623	0.40514	-3.676	0.18965	T	.	.	0.110	0.21277	B	.	.	2.369921	0.30405	18.43	0.993574185376907	0.60862	0.00675	0.02904	N	AEFI	.	.	.	.	.	.	.	.	.	9.47816147302976E-5	0.04910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03	-0.188	0.12612	0.650000	0.24544	-0.051000	0.12545	0.366000	0.20181	0.130000	0.23345	0.000000	0.08366	0.003000	0.05239	0.0:0.3419:0.0:0.6581	2.833	0.05166	162	0.93704	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034965	0.013605	0.024119	0.067194	0.000000	0.047059	0.017699	0.052632	0.05263	1201.81	34	chrX	49689423	.	T	C	1201.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=24.53;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1229,147,0	18	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	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	0/1:69,525:594:99:16257,0,246	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	0/1:63,386:449:99:11529,0,507	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	0/1:304,37:341:43:43,0,9094	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	0/1:62,237:299:99:6616,0,1128	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	0/1:50,179:229:99:5507,0,1377	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	0/1:151,47:198:99:853,0,4683	8	0	9	2
chrX	71604347	71604347	C	G	exonic	GCNA	.	nonsynonymous SNV	GCNA:NM_052957:exon8:c.C1070G:p.A357G	.	.	.	.	.	.	.	.	.	.	.	3261879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0172296048258	.	.	2.338e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs372385736	2.642e-05	2.641e-05	2.178e-05	3.581e-05	0.0004	1.853e-05	1.602e-05	0.0002	0.0002	0	0	0	0.0001	0	0.0002	1.188e-06	8.682e-05	0.0004	1.778e-05	1.74e-05	2.569e-05	0	0.0006	2.95e-06	1.11e-06	9.765e-05	4.073e-05	0	0	0	0	0.0006	0	0	0	0	0	0.074	0.34621	T	0.386	0.15698	T	0.643	0.40492	P	0.364	0.43306	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.46	0.32238	T	-0.52	0.16187	N	0.055	0.02658	-1.0199	0.23747	T	0.032	0.13942	T	8	0.049360007	0.04513	T	0.01723	0.38843	T	0.022	0.04323	0.249	0.18602	0.123314135267	0.11883	0.07360403092500617	0.07297	0.201776064009	0.22587	0.272856831551	0.06517	T	0.018788	0.15087	T	-0.670249	0.00055	T	-0.940863	0.00292	T	0.0307888589222955	0.02113	T	0.309069	0.05976	T	0.06878907	0.15015	0.13553423	0.32448	0.06878907	0.15015	0.13553423	0.32447	-4.262	0.27641	T	.	.	0.105	0.20391	B	.;.	.;.	0.004282	0.04313	1.089	0.95532079865100317	0.27166	0.14187	0.18269	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.997495114181363	0.35680	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.046	0.13572	0.370000	0.20166	0.141000	0.15172	0.154000	0.17704	0.002000	0.15269	0.003000	0.18671	0.111000	0.18785	.	.	.	341	0.85936	.;.	.	.	.	.	.	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	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.05263	2500.81	37	chrX	71604347	.	C	G	2500.81	.	AC=2;AF=0.053;AN=38;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.79;SOR=1.641	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2528,221,0	18	1	0	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,16:174:99:0|1:74591902_T_A:196,0,6565:74591902	12	0	7	0
chrX	101493585	101493585	G	A	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G4996A:p.A1666T	.	422	1098	0	2	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	0.00953642	0.0012	0.0203	0	0	0	0	0	0	0.0004592	71	154602	rs145757188	0.0011	0.0010	0.0012	0.0009	0.0334	0.0010	0.0010	0.0316	0.0308	0.0334	0.0024	5.364e-05	0	0	0.0039	0.0001	0.0028	0.0002	0.0080	0.0083	0.0083	0.0070	0.0273	0.0075	0.0073	0.0258	0.0252	0.0273	0	0.0035	0	0	0	0	0.0001	0.0048	0	0.163	0.23450	T	0.283	0.21478	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	2.06	0.20523	T	-0.51	0.15986	N	0.041	0.01421	-1.0020	0.29342	T	0.042	0.18202	T	3	0.0028217137	0.00045	T	.	.	.	0.050	0.13987	.	.	0.112648838833	0.10856	0.03881947201137774	0.03827	.	.	0.40875351429	0.26284	T	.	.	.	-0.909263	0.00000	T	-1.05724	0.00059	T	0.00479267099488875	0.00051	T	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15877	B	.	.	0.631518	0.10002	6.753	0.46563748898834195	0.03739	0.08791	0.14667	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.956026489052887	0.28223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	1.03	0.19161	-0.697000	0.05199	0.148000	0.15257	0.670000	0.69193	0.000000	0.06391	0.000000	0.08366	0.211000	0.22211	0.2133:0.0:0.6128:0.1738	4.660	0.12025	124	0.95048	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1952.81	68	chrX	101493585	.	G	A	1952.81	.	AC=2;AF=0.053;AN=38;DP=1278;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.51;SOR=0.822	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1980,192,0	18	1	0	0
chrX	101625983	101625983	T	A	exonic	ARMCX3	.	nonsynonymous SNV	ARMCX3:NM_016607:exon5:c.T1004A:p.F335Y,ARMCX3:NM_177947:exon5:c.T1004A:p.F335Y,ARMCX3:NM_177948:exon5:c.T1004A:p.F335Y	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0050	0.00529801	0.0020	0.0182	0.0010	0	0	0.0004	0	0	0.0017464	270	154602	rs115179885	0.0010	0.0010	0.0010	0.0008	0.0186	0.0009	0.0009	0.0172	0.0167	0.0186	0.0016	5.176e-05	0	4.938e-05	0.0044	0.0005	0.0018	7.514e-05	0.0050	0.0052	0.0052	0.0046	0.0165	0.0047	0.0046	0.0153	0.0149	0.0165	0	0.0022	0	0	0	0	0.0005	0.0026	0	0.242	0.17584	T	0.384	0.15794	T	0.013	0.16609	B	0.026	0.20792	B	0.147949	0.18064	N	0.630541	0.990965	0.24100	N	1.115	0.28702	L	1.47	0.31987	T	-0.72	0.20358	N	0.289	0.32701	-1.0398	0.17374	T	0.028	0.11926	T	9	0.004819751	0.00102	T	.	.	.	0.098	0.28162	.	.	0.52991035303	0.52639	0.2998826735405795	0.29901	1.14464333826	0.79041	0.421489179134	0.28041	T	0.013197	0.11459	T	-0.704504	0.00034	T	-0.771122	0.02731	T	0.00319766287587958	0.00034	T	0.472453	0.14032	T	0.1537538	0.34836	0.078945786	0.17728	0.1537538	0.34836	0.078945786	0.17728	-3.546	0.17082	T	.	.	0.093	0.14015	B	.;.;.	.;.;.	1.033898	0.14140	10.72	0.80509967214650668	0.13237	0.50835	0.28755	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999616938766607	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.44	-0.678	0.10782	-0.273000	0.08580	-1.855000	0.04605	0.661000	0.55757	0.150000	0.23655	0.000000	0.08366	1.000000	0.97212	0.1935:0.3309:0.0:0.4756	3.052	0.05800	124	0.95048	Armadillo repeat-containing domain;Armadillo repeat-containing domain;Armadillo repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011757	0.020408	0.020408	0.007905	0.000000	0.000000	0.004425	0.000000	0.05263	1266.81	36	chrX	101625983	.	T	A	1266.81	.	AC=2;AF=0.053;AN=38;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.54;SOR=0.78	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1294,138,0	18	1	0	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	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	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.1579	11282.4	48	chrX	107981733	.	G	C	11282.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.86;DP=1207;ExcessHet=0.0015;FS=1.134;InbreedingCoeff=0.6042;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.359;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,92:92:99:3057,276,0	15	2	2	0
chrX	109409060	109409060	T	C	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon9:c.A1900G:p.I634V	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.10111029552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897483162	1.003e-06	2.743e-06	1.408e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.335e-05	0	8.916e-06	8.701e-06	1.285e-05	0	3.244e-05	0	0	.	.	3.244e-05	0	0	0	0	0	0	0	0	0	0.32	0.13566	T	0.481	0.11864	T	0.097	0.25541	B	0.257	0.39298	B	0.000005	0.62929	D	0.063176	0.556772	0.31290	N	0.33	0.10399	N	-1.59	0.82076	D	-0.92	0.24676	N	0.277	0.31365	-0.6609	0.62236	T	0.263	0.63372	T	10	0.34920254	0.51818	T	0.10111	0.77379	D	0.229	0.52916	0.616	0.75000	0.722721478605	0.72027	0.4736693689751208	0.47285	0.472542371218	0.46495	0.460184276104	0.33336	T	0.182717	0.53483	T	-0.129933	0.31506	T	-0.424416	0.30571	T	0.529239654541016	0.33706	D	0.940606	0.77652	D	0.27620864	0.50682	0.14576554	0.34559	0.27620864	0.50682	0.14576554	0.34559	-3.149	0.11867	T	.	.	0.196	0.41738	B	.	.	2.684290	0.35026	19.79	0.98664216578826136	0.44372	0.88574	0.48565	D	AEFI	.	.	.	.	.	.	.	.	.	0.00597955320572845	0.11094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.34	4.34	0.51267	2.822000	0.47773	1.663000	0.27911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2204:0.0:0.0:0.7795	6.423	0.20956	410	0.82135	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3810.81	34	chrX	109409060	.	T	C	3810.81	.	AC=2;AF=0.053;AN=38;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.54;SOR=0.84	GT:AD:DP:GQ:PL	1/1:0,129:129:99:3838,387,0	18	1	0	0
chrX	116446810	116446810	G	C	exonic	SLC6A14	.	nonsynonymous SNV	SLC6A14:NM_007231:exon7:c.G859C:p.E287Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0763836950307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.152e-07	9.106e-07	1.362e-06	0	1.194e-06	0	0	.	.	0	0	0	0	0	0	1.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.98	0.59353	D	0.926	0.66095	D	0.000002	0.62929	D	0.098710	0.999715	0.48481	D	3.175	0.88760	M	-0.94	0.75325	T	.	.	.	0.243	0.27435	0.256	0.86846	D	0.581	0.84911	D	10	0.63529855	0.68747	D	0.076384	0.72517	D	.	.	0.686	0.82367	0.925039501145	0.92427	0.45431562599555975	0.45349	.	.	0.404104053974	0.25640	T	0.085238	0.37458	T	-0.0102069	0.50238	T	-0.252438	0.49575	T	0.979535043239594	0.72881	D	0.939806	0.77272	D	0.49382678	0.66730	0.5580165	0.74432	0.49382678	0.66731	0.5580165	0.74433	-7.252	0.55854	T	.	.	0.154	0.34004	B	.	.	3.620842	0.51243	23.1	0.9972413705916906	0.82266	0.97130	0.72865	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999986217076	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	5.62	0.85714	3.775000	0.55055	6.376000	0.55533	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	15.851	0.78709	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	698.81	34	chrX	116446810	.	G	C	698.81	.	AC=2;AF=0.053;AN=38;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.38;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,23:23:69:726,69,0	18	1	0	0
chrX	135577340	135577340	A	T	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon14:c.A1921T:p.T641S,INTS6L:NM_182540:exon14:c.A1921T:p.T641S,INTS6L:NM_001351601:exon15:c.A2032T:p.T678S	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0019	0.0164238	0.0135	0.0018	0.1179	0	0	0.0009	0.0047	0.0020	0.0112353	1737	154602	rs34862419	0.0045	0.0045	0.0048	0.0038	0.1163	0.0044	0.0043	0.1133	0.1121	0.0020	0.1163	5.158e-05	0	2.467e-05	0.0005	0.0005	0.0059	0.0016	0.0088	0.0091	0.0084	0.0099	0.0775	0.0084	0.0082	0.0730	0.0713	0.0030	0	0.0775	0	0	0	0	0.0008	0.0204	0.0026	0.32	0.13566	T	0.432	0.13634	T	0.025	0.19245	B	0.024	0.20255	B	0.000002	0.62929	D	0.099758	0.0248443	0.39165	P	.	.	.	1.49	0.31470	T	-0.4	0.13805	N	0.026	0.00527	-1.0598	0.11805	T	0.012	0.04416	T	9	0.0017565489	0.00023	T	.	.	.	0.113	0.31778	0.384	0.40298	.	.	0.16898009487857157	0.16818	1.17986233694	0.79992	0.369068086147	0.20698	T	0.015292	0.12856	T	-0.71807	0.00028	T	-0.707518	0.05424	T	0.027907619092294	0.01674	T	0.778122	0.42156	T	0.22493584	0.45145	0.18489747	0.41571	0.22493584	0.45145	0.18489747	0.41570	-3.291	0.13621	T	.	.	0.111	0.21616	B	.;.	.;.	2.835312	0.37390	20.5	0.98034796645097799	0.37743	0.87207	0.46677	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999993093692496	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	3.187000	0.50651	8.047000	0.76340	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.550	0.61189	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.05263	2125.81	35	chrX	135577340	.	A	T	2125.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.34;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2153,225,0	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	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	0/1:24,11:35:10:10,0,425	2	0	17	0
chrX	141697635	141697635	G	T	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.C124A:p.L42I	.	468	1037	12	5	0	22	0.0104962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	.	0.0050	0.0219	0.0026	0.0054	0.0018	0.0025	0.0048	0.0060	3.84e-05	1	26028	rs149669480	0.0004	0.0025	0.0003	0.0006	0.0044	0.0004	0.0004	0.0038	0.0035	0.0044	0.0003	0.0002	0.0013	0.0004	0.0015	0.0002	0.0007	0.0007	0.0013	0.0076	0.0018	9.563e-05	0.0037	0.0011	0.0010	0.0031	0.0029	0.0037	0	0.0009	0.0008	0.0003	0	0.0101	0.0003	0.0007	0.0004	0.141	0.25560	T	0.274	0.22084	T	0.025	0.19245	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-0.68	0.19509	N	0.107	0.09207	-0.9662	0.37974	T	0.015	0.06186	T	6	0.005303383	0.00116	T	.	.	.	0.024	0.04979	.	.	0.0611884634855	0.05136	9.016860235540324E-4	0.00083	6.76067209451E-4	0.00063	.	.	.	0.004243	0.03650	T	-0.797618	0.00008	T	-0.91878	0.00385	T	0.00413528364151716	0.00044	T	0.346965	0.07635	T	0.25396782	0.48421	0.14669764	0.34745	0.25396782	0.48421	0.14669764	0.34744	-4.111	0.25452	T	.	.	0.121	0.25133	B	.	.	-0.353704	0.02391	0.265	0.79167193764423383	0.12620	0.00285	0.01534	N	AEFI	.	.	.	.	.	.	.	.	.	1.21411294066054E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418000	0.20950	.	.	-1.314000	0.01232	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.012922	0.006849	0.020561	0.004762	0.000000	0.000000	0.004484	0.021164	0.05263	3394.81	35	chrX	141697635	.	G	T	3394.81	.	AC=2;AF=0.053;AN=38;DP=978;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=51.83;QD=29.11;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77:77:99:1|1:141697633_T_C:3422,232,0:141697633	18	1	0	0
chrY	9468575	9468575	C	T	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon4:c.C739T:p.R247C,TSPY1:NM_003308:exon4:c.C739T:p.R247C,TSPY1:NM_001320964:exon5:c.C478T:p.R160C	.	1112	376	34	0	0	34	0.043257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.942448804252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453465763	0	3.698e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.47581	T	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	.	.	.	2.19	0.61577	M	1.41	0.33412	T	-2.46	0.53736	N	0.091	0.06990	-1.0255	0.21919	T	0.095	0.35924	T	5	0.3254106	0.49852	T	0.942449	0.99595	D	0.077	0.22490	.	.	0.0954503805726	0.09146	0.1224262590712214	0.12169	.	.	.	.	.	0.061559	0.31686	T	-0.594515	0.00157	T	-0.799608	0.01912	T	0.297556161880493	0.24903	T	0.954405	0.82627	D	0.1592242	0.35779	0.26193547	0.51978	0.1592242	0.35779	0.26193547	0.51977	-4.639	0.33968	T	.	.	0.217	0.45359	B	.;.	.;.	2.000986	0.25425	16.76	0.99244968679632095	0.56662	0.00250	0.01379	N	AEF	.	.	.	.	.	.	.	.	.	1.14592207977015E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.248000	0.08872	.	.	0.200000	0.17917	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	226.97	.	chrY	9468575	.	C	T	226.97	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.17;DP=373;ExcessHet=0.7463;FS=27.454;InbreedingCoeff=-0.1765;MLEAC=5;MLEAF=0.25;MQ=21.97;MQRankSum=-0.786;QD=1.91;ReadPosRankSum=1.05;SOR=4.644	GT:AD:DP:GQ:PL	0/1:26,6:32:52:52,0,618	7	0	3	9