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	NSWES896	WT	HH	HZ	NC
chr1	1020239	1020239	G	C	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon1:c.G67C:p.V23L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	14	1448	54	6	0	66	0.0222822	.	.	.	206690	not_specified|not_provided|Congenital_myasthenic_syndrome_8|AGRN-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	.	0.00878594	0.0348	0.0127	0.0641	0.0089	.	0.0123	0.0455	0.0432	0.0026067	403	154602	rs201073369	0.0071	0.0067	0.0062	0.0080	0.0319	0.0070	0.0069	0.0308	0.0303	0.0045	0.0019	0.0188	0.0010	0.0054	0.0164	0.0055	0.0088	0.0319	0.0067	0.0067	0.0066	0.0069	0.0311	0.0064	0.0062	0.0270	0.0255	0.0043	0	0.0031	0.0185	0.0048	0.0036	0.0034	0.0074	0.0086	0.0311	0.632	0.05121	T	0.192	0.28300	T	.	.	.	.	.	.	0.726910	0.09888	U	0.737577	1	0.08975	N	0.14	0.08730	N	-0.9	0.74896	T	-0.25	0.11008	N	0.053	0.02462	-0.9797	0.35071	T	0.184	0.53270	T	10	0.0018510222	0.00025	T	.	.	.	0.040	0.10527	.	.	.	.	0.18601286770968664	0.18519	0.422332236549	0.42733	0.913664937019	0.97804	D	.	.	.	-0.458053	0.01011	T	-0.40567	0.32724	T	0.00447011521354338	0.00048	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	-2.074	0.03474	T	.	.	0.079	0.07224	B	.	.	1.215538	0.16088	12.31	0.43474261126813984	0.03275	0.00656	0.02847	N	ALL	0.038155	0.05356	N	-1.10990126718945	0.06466	0.297743	-1.16109306244423	0.06570	0.316724	0.999999999973226	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	2.05	1.04	0.19220	0.455000	0.21555	0.558000	0.19484	0.458000	0.21545	0.002000	0.15269	0.988000	0.31051	0.789000	0.37270	0.142:0.0:0.858:0.0	7.971	0.29289	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	0.016317	0.009259	0.009009	0.018519	0.000000	0.000000	0.000000	0.016393	0.1	455.14	36	chr1	1020239	.	G	C	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.602;DP=223;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.557;SOR=0.495	GT:AD:DP:GQ:PL	0/1:12,12:24:99:293,0,273	8	0	2	0
chr1	1047342	1047342	A	G	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon20:c.A3404G:p.Q1135R	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1406	106	10	0	126	0.0428863	.	.	.	133748	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.192	.	0.0054	0.0139776	0.0143	0.0024	0.0027	0.0030	0.0046	0.0098	0.0141	0.0640	0.0127295	1968	154602	rs142416636	0.0098	0.0098	0.0081	0.0115	0.0567	0.0096	0.0096	0.0554	0.0548	0.0013	0.0030	0.0299	0.0018	0.0044	0.0307	0.0065	0.0129	0.0567	0.0077	0.0077	0.0071	0.0084	0.0574	0.0074	0.0072	0.0518	0.0497	0.0013	0	0.0042	0.0288	0.0046	0.0037	0.0238	0.0087	0.0118	0.0574	0.012	0.54683	D	0.007	0.69154	D	.	.	.	.	.	.	0.003679	0.34636	N	0.202957	0.921028	0.36678	D	2.135	0.59519	M	1.16	0.38073	T	-1.59	0.38345	N	0.519	0.54932	-1.0091	0.27198	T	0.074	0.29960	T	10	0.007086724	0.00161	T	.	.	.	0.192	0.47115	.	.	.	.	0.6762159472269722	0.67559	0.592570687533	0.54640	0.507688999176	0.39899	T	.	.	.	-0.44873	0.01149	T	-0.376367	0.36146	T	0.013385198865462	0.00242	T	0.836816	0.50885	T	.	.	.	.	.	.	.	.	-7.347	0.56529	T	.	.	0.109	0.38587	B	.;.	.;.	3.504255	0.49039	22.7	0.99389829152015619	0.62292	0.86197	0.45432	D	AEFBI	0.265116	0.38231	N	0.244303167897421	0.53358	3.504996	0.252757546594491	0.52807	3.453025	0.919847161373162	0.26614	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	2.004000	0.40474	6.613000	0.56094	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.671	0.61899	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.005051	0.024523	0.038012	0.000000	0.051724	0.018293	0.041667	0.05	771.43	38	chr1	1047342	.	A	G	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.338;DP=382;ExcessHet=0;FS=8.049;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-1.404;SOR=1.076	GT:AD:DP:GQ:PL	0/1:35,36:71:99:783,0,869	9	0	1	0
chr1	1309739	1309739	T	C	exonic	PUSL1	.	nonsynonymous SNV	PUSL1:NM_001346116:exon5:c.T532C:p.F178L,PUSL1:NM_153339:exon5:c.T532C:p.F178L	.	373	1148	1	0	0	1	0.00043535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.66468983702	.	.	3.422e-05	0	0	0	0	6.385e-05	0	0	1.29e-05	2	154602	rs750390825	3.458e-06	4.788e-06	0	6.964e-06	0.0005	1.01e-06	7.4e-07	0.0001	7.578e-05	0	0	0	0	0	0.0005	9.051e-07	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.988	0.77976	D	0.075696	0.21208	N	0.420104	0.990362	0.41143	D	.	.	.	-0.82	0.74053	T	-5.63	0.86836	D	0.884	0.88246	0.080	0.83801	D	0.572	0.84545	D	10	0.95902574	0.95291	D	0.66469	0.97190	D	0.658	0.87184	0.903	0.97901	0.727117891939	0.72469	0.7894061111939974	0.78892	0.471672694869	0.46430	0.867233157158	0.92170	D	0.291057	0.68436	T	0.266532	0.80128	D	0.145079	0.79872	D	0.955130994319916	0.64433	D	0.865113	0.79675	D	0.7392092	0.80247	0.7712552	0.86496	0.7392092	0.80248	0.7712552	0.86497	-12.008	0.84891	D	.	.	0.990	0.93727	P	.;.	.;.	4.198634	0.63341	24.6	0.99714323529282389	0.81563	0.77139	0.37895	D	AEFDGBHCI	0.187775	0.31507	N	0.323207865231313	0.57340	3.901123	0.166115478215636	0.48002	3.022179	0.999999999129657	0.74766	0.72623	0.87236	0	0.748881	0.99253	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.61	3.48	0.38946	-0.064000	0.11593	5.975000	0.52067	0.663000	0.56723	0.010000	0.18352	1.000000	0.68203	0.878000	0.41950	0.0:0.1068:0.0:0.8932	6.713	0.22478	779	0.47767	Pseudouridine synthase I, TruA, alpha/beta domain;Pseudouridine synthase I, TruA, alpha/beta 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	.	.	.	.	.	.	.	.	0.05	2142.43	41	chr1	1309739	.	T	C	2142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.815;DP=493;ExcessHet=0;FS=4.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.177;SOR=0.529	GT:AD:DP:GQ:PL	0/1:66,87:153:99:2154,0,1601	9	0	1	0
chr1	1520597	1520597	T	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon7:c.T730C:p.W244R,ATAD3A:NM_001170536:exon7:c.T493C:p.W165R,ATAD3A:NM_018188:exon7:c.T874C:p.W292R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	415	1085	22	0	0	22	0.0100365	.	.	.	2839839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.332367645262	.	.	0.0002	9.625e-05	8.643e-05	0	0	0.0001	0	0.0005	1.94e-05	3	154602	rs2767468	0.0004	0.0006	0.0004	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0002	0.0002	0	0.0002	0	0.0035	0.0004	0.0004	0.0005	0.0002	0.0009	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0002	0	0.0002	0	0.0034	0.0001	0	0.0017	0.839	0.02825	T	0.841	0.04965	T	0.001	0.07471	B	0.008	0.13708	B	0.000002	0.62929	N	0.063421	0.999913	0.53665	D	0.995	0.25082	L	-3.0	0.93352	D	-6.95	0.94352	D	0.479	0.51494	-0.3070	0.74790	T	0.620	0.86618	D	10	0.19466835	0.35287	T	0.332368	0.91787	D	0.336	0.65816	0.583	0.70990	0.784197563543	0.78219	0.8997627746519212	0.89948	0.593987100731	0.54729	0.550479531288	0.45925	T	0.122339	0.44593	T	0.0944643	0.63688	D	-0.102085	0.63236	T	0.0701929091246324	0.08678	T	0.535446	0.17943	T	0.3268352	0.55211	0.39737242	0.64354	0.415586	0.61797	0.40001217	0.64549	-4.84	0.48149	T	0.20377204074795494	0.27139	0.351	0.61755	A	.;.;.	.;.;.	2.661937	0.34679	19.69	0.20906440186603245	0.00773	0.88584	0.48580	D	AEFGBI	0.341212	0.43777	N	-0.949316226723773	0.09707	0.4606452	-0.820431655846448	0.14000	0.7293059	0.128589634574862	0.17043	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.28	0.36691	3.387000	0.52240	4.879000	0.45646	-0.872000	0.02536	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0804:0.0:0.9196	11.643	0.50502	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Likely benign	0	0	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	0.002160	0.000000	0.004087	0.004167	0.111111	0.008621	0.003165	0.000000	0.1	337.14	39	chr1	1520597	.	T	C	337.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.154;DP=846;ExcessHet=0.2348;FS=10.909;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.01;MQRankSum=-13.62;QD=0.64;ReadPosRankSum=-0.853;SOR=1.757	GT:AD:DP:GQ:PL	0/1:225,38:263:99:253,0,6015	8	0	2	0
chr1	2198795	2198795	C	T	exonic	FAAP20	.	nonsynonymous SNV	FAAP20:NM_001282670:exon4:c.G194A:p.R65H	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00519169	0.0077	0.0018	0.0106	0	0.0417	0.0090	0.0154	0.0075	0.0023997	371	154602	rs142593122	0.0110	0.0086	0.0110	0.0109	0.0120	0.0108	0.0107	0.0118	0.0117	0.0019	0.0052	0.0089	0.0004	0.0033	0.0067	0.0120	0.0109	0.0072	0.0073	0.0073	0.0075	0.0070	0.0110	0.0069	0.0068	0.0104	0.0101	0.0022	0.0154	0.0081	0.0086	0	0.0029	0.0102	0.0110	0.0095	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1755.14	42	chr1	2198795	.	C	T	1755.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.593;DP=431;ExcessHet=0.2348;FS=2.311;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.182;SOR=0.488	GT:AD:DP:GQ:PL	0/1:30,31:61:99:812,0,781	8	0	2	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	105.02	58	chr1	3836493	.	A	C	105.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.804;DP=353;ExcessHet=0.2348;FS=10.685;InbreedingCoeff=-0.2516;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=2.26;SOR=2.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,3:25:48:0|1:3836468_G_GT:48,0,603:3836468	4	0	2	4
chr1	7664885	7664885	T	G	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349608:exon8:c.T2248G:p.F750V,CAMTA1:NM_001349612:exon8:c.T2248G:p.F750V,CAMTA1:NM_001349609:exon9:c.T2338G:p.F780V,CAMTA1:NM_001349610:exon9:c.T2338G:p.F780V,CAMTA1:NM_015215:exon9:c.T2338G:p.F780V	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3424544	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.463	0.0450259444053	7.7e-05	.	8.338e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs377269648	4.518e-05	4.515e-05	4.767e-05	4.265e-05	5.935e-05	3.643e-05	3.323e-05	4.786e-05	4.366e-05	0	0	0	0	0	0	5.935e-05	0	0	1.971e-05	1.97e-05	3.855e-05	0	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.131	0.34596	T	0.993	0.65571	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	1.01	0.41058	T	-2.75	0.58407	D	0.885	0.88356	-0.7185	0.59536	T	0.218	0.57994	T	10	0.8168669	0.80919	D	0.045026	0.61779	D	0.463	0.75956	.	.	0.74514148438	0.74284	0.6979037979218573	0.69731	1.58648572353	0.88459	0.887041330338	0.94886	D	0.233608	0.60045	T	0.227704	0.76506	D	0.104791	0.77226	D	0.937645077705383	0.60760	D	0.932007	0.74652	D	0.62812376	0.74198	0.5988971	0.76703	0.62812376	0.74199	0.5988971	0.76704	-12.628	0.87774	D	0.8412955095311834	0.90975	0.944	0.86264	P	.	.	4.606530	0.73013	25.9	0.9901194600889951	0.50377	0.99605	0.97912	D	AEFDBI	0.914025	0.87682	D	0.672983570350745	0.77863	6.757259	0.667568183269724	0.79927	7.186586	0.999999629342543	0.74766	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	7.569000	0.81713	7.830000	0.70079	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.111	0.72029	913	0.21160	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2614.43	36	chr1	7664885	.	T	G	2614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.353;DP=587;ExcessHet=0;FS=0.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.231;SOR=0.642	GT:AD:DP:GQ:PL	0/1:129,119:248:99:2626,0,2999	9	0	1	0
chr1	12794282	12794282	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C655T:p.R219C	.	433	1081	8	0	0	8	0.00368664	.	.	.	2216210	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00142032359998	0.0007	0.000399361	0.0010	0	0.0011	0	0.0002	0.0012	0.0011	0.0012	0.0008215	127	154602	rs147357536	0.0006	0.0006	0.0005	0.0006	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0045	0	0.0002	0.0023	0.0004	0.0010	0.0011	0.0007	0.0007	0.0006	0.0008	0.0016	0.0006	0.0005	0.0011	0.0010	9.672e-05	0	0.0016	0.0023	0.0002	0.0003	0	0.0007	0.0024	0.0013	0.12	0.27904	T	0.143	0.33219	T	0.0	0.02946	B	0.001	0.04355	B	0.886547	0.07268	N	1.066740	1	0.08975	N	0.035	0.08059	N	2.51	0.14284	T	0.02	0.06739	N	0.162	0.17002	-0.9756	0.35993	T	0.015	0.06186	T	10	0.0075188577	0.00171	T	0.00142	0.02113	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.14337731810921603	0.14260	0.487149320431	0.47551	0.458294987679	0.33076	T	0.001683	0.01111	T	-0.615115	0.00118	T	-0.706787	0.05463	T	0.00928990431519865	0.00118	T	0.465553	0.13627	T	0.05810497	0.11648	0.025298804	0.00570	0.05810497	0.11648	0.025298804	0.00570	-4.384	0.29339	T	.	.	0.113	0.22428	B	.	.	0.373282	0.07453	4.091	0.69434120243652719	0.08971	0.00060	0.00440	N	AEFI	0.028737	0.02587	N	-1.6758509236672	0.00931	0.04031063	-1.77805332114332	0.00832	0.0371597	3.42563002971451E-4	0.06626	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-3.22	0.04808	-2.432000	0.01099	-20.000000	0.00162	-0.402000	0.05293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.373:0.4558:0.0:0.1713	3.863	0.08512	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004217	0.000000	0.005479	0.004425	0.000000	0.000000	0.011538	0.000000	0.05	4752.43	34	chr1	12794282	.	C	T	4752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=875;ExcessHet=0;FS=0.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.29;MQRankSum=1.96;QD=19.88;ReadPosRankSum=0.398;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,123:239:99:0|1:12794279_C_T:4764,0,4361:12794279	9	0	1	0
chr1	13050005	13050005	C	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.G1240C:p.V414L	.	578	941	3	0	0	3	0.00159151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0019	0.0026	0.0006	0.0028	0.0024	0.0018	0.0011	0.0023	.	.	.	rs1172125965	0.0015	0.0016	0.0014	0.0015	0.0016	0.0014	0.0014	0.0015	0.0014	0.0005	0.0006	0.0034	0.0003	0.0030	0.0016	0.0015	0.0012	0.0005	0.0014	0.0016	0.0011	0.0018	0.0018	0.0013	0.0012	0.0015	0.0014	0.0004	0	0.0004	0.0020	0	0.0028	0	0.0018	0.0021	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.036	0.01068	-0.9978	0.30535	T	0.040	0.17319	T	6	0.00902909	0.00204	T	.	.	.	0.038	0.09825	.	.	0.0297737177859	0.01360	0.20685637496852285	0.20601	.	.	.	.	.	0.003273	0.02677	T	-0.420336	0.01702	T	-0.84156	0.01075	T	0.0110927352757226	0.00161	T	.	.	.	0.022523431	0.00921	0.07911498	0.17781	0.022523431	0.00921	0.07911498	0.17781	-1.397	0.01566	T	.	.	0.112	0.21803	B	.	.	-0.601861	0.01567	0.104	0.43564656289561676	0.03289	0.00011	0.00159	N	AEFI	0.013522	0.00183	N	-1.38013973261158	0.02824	0.1252796	-1.58527372343863	0.01745	0.07937364	2.60854475567407E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.45	-1.44	0.08391	-0.771000	0.04805	-20.000000	0.00162	-0.675000	0.04277	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.0:0.7345:0.2655:0.0	10.081	0.41561	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3401.08	34	chr1	13050005	.	C	G	3401.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.01;DP=464;ExcessHet=0;FS=1.865;MLEAC=1;MLEAF=0.056;MQ=43.26;MQRankSum=-1.389;QD=18.89;ReadPosRankSum=-0.56;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,90:180:99:0|1:13050005_C_G:3412,0,3447:13050005	8	0	1	1
chr1	13050011	13050011	C	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.G1234C:p.V412L	.	567	952	3	0	0	3	0.00157315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00459265	0.0017	0.0010	0.0027	0.0017	0.0024	0.0016	0.0011	0.0021	0.0015912	246	154602	rs1174089374	0.0013	0.0014	0.0013	0.0014	0.0014	0.0013	0.0012	0.0013	0.0013	0.0004	0.0005	0.0033	0.0002	0.0030	0.0013	0.0014	0.0010	0.0003	0.0014	0.0016	0.0012	0.0017	0.0018	0.0012	0.0011	0.0015	0.0014	0.0002	0	0.0005	0.0020	0	0.0027	0	0.0018	0.0021	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.427749	0.04686	N	1.380310	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	-0.9908	0.32398	T	0.008	0.02884	T	10	0.0035225153	0.00063	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.18084801369215397	0.18003	.	.	.	.	.	0.003864	0.03272	T	-0.437852	0.01331	T	-0.866721	0.00774	T	0.000999426185227816	0.00010	T	.	.	.	0.023184275	0.01037	0.03157109	0.01765	0.023184275	0.01037	0.03157109	0.01765	-0.296	0.00472	T	.	.	0.093	0.14015	B	.	.	-1.022594	0.00739	0.023	0.081090229478680872	0.00057	0.00008	0.00134	N	AEFI	0.013186	0.00167	N	-1.98012272325946	0.00233	0.01000589	-2.00490364129989	0.00299	0.01320684	4.21787938253239E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-2.41	0.06184	-0.544000	0.06166	-20.000000	0.00162	-0.675000	0.04277	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.4045:0.2585:0.337:0.0	2.722	0.04881	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3295.08	34	chr1	13050011	.	C	G	3295.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.75;DP=450;ExcessHet=0;FS=2.689;MLEAC=1;MLEAF=0.056;MQ=41.61;MQRankSum=-1.979;QD=18.94;ReadPosRankSum=-0.141;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,86:174:99:0|1:13050005_C_G:3306,0,3416:13050005	8	0	1	1
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	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:460,82:542:99:919,0,13149	0	0	10	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	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:628,107:735:99:997,0,17233	0	0	10	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	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:366,96:462:99:1794,0,12313	0	0	10	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	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:296,144:440:99:3225,0,9510	1	0	9	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	0.25	3929.15	330	chr1	16577387	.	T	C	3929.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.94;DP=2502;ExcessHet=2.8389;FS=2.449;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=41.6;MQRankSum=-3.074;QD=3.11;ReadPosRankSum=-1.371;SOR=0.969	GT:AD:DP:GQ:PL	0/1:163,61:224:99:1148,0,4200	5	0	5	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	1009.31	72	chr1	16579293	.	A	G	1009.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.23;DP=466;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.429;MQ=35.93;MQRankSum=0.756;QD=4.59;ReadPosRankSum=-1.271;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:0|1:16579293_A_G:211,0,941:16579293	2	0	5	3
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	0.3125	1005.64	72	chr1	16579294	.	T	C	1005.64	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=465;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4289;MLEAC=6;MLEAF=0.375;MQ=35.91;MQRankSum=0.756;QD=4.57;ReadPosRankSum=-1.305;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:0|1:16579293_A_G:211,0,941:16579293	3	0	5	2
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	0.25	464.7	70	chr1	16579305	.	G	A	464.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.45;DP=449;ExcessHet=2.8389;FS=126.997;InbreedingCoeff=-0.3739;MLEAC=5;MLEAF=0.25;MQ=35.64;MQRankSum=0.725;QD=2.18;ReadPosRankSum=-1.5;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:93:0|1:16579305_G_A:93,0,1017:16579305	5	0	5	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	0.2	310.61	69	chr1	16579308	.	G	C	310.61	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.011;DP=446;ExcessHet=1.5895;FS=110.764;InbreedingCoeff=-0.2501;MLEAC=4;MLEAF=0.2;MQ=35.66;MQRankSum=0.683;QD=2.17;ReadPosRankSum=-1.139;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:90:0|1:16579305_G_A:90,0,1054:16579305	6	0	4	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	.	.	.	.	.	.	.	.	0.15	5590.45	486	chr1	16757526	.	C	G	5590.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.717;DP=3256;ExcessHet=0.7463;FS=0.637;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.16;MQRankSum=-1.526;QD=5.09;ReadPosRankSum=-0.662;SOR=0.603	GT:AD:DP:GQ:PL	0/1:317,56:373:99:640,0,8863	7	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	0/1:60,23:83:99:570,0,1889	1	5	4	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	.	.	.	.	.	.	.	.	0.3	4717.98	171	chr1	16760446	.	C	T	4717.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=3.08;DP=2202;ExcessHet=4.5998;FS=15.492;InbreedingCoeff=-0.4285;MLEAC=6;MLEAF=0.3;MQ=45.05;MQRankSum=-0.209;QD=3.2;ReadPosRankSum=-0.377;SOR=1.841	GT:AD:DP:GQ:PL	0/1:215,25:240:36:36,0,5729	4	0	6	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	.	.	.	.	.	.	.	.	0.1	1466.14	574	chr1	16760964	.	A	G	1466.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.883;DP=5788;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.77;MQRankSum=-1.178;QD=1.23;ReadPosRankSum=1.13;SOR=0.705	GT:AD:DP:GQ:PL	0/1:453,88:541:99:957,0,13561	8	0	2	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.1	2835.14	65	chr1	18877457	.	C	T	2835.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.326;DP=620;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.32;SOR=0.621	GT:AD:DP:GQ:PL	0/1:91,84:175:99:1833,0,2220	8	0	2	0
chr1	20501054	20501054	C	T	exonic	MUL1	.	nonsynonymous SNV	MUL1:NM_024544:exon4:c.G695A:p.R232K	.	425	1094	3	0	0	3	0.00136924	.	.	.	2335129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00304358720837	7.7e-05	.	0.0002	9.656e-05	0.0010	0	0	0.0002	0	0.0002	0.0002005	31	154602	rs143833510	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.501e-05	0.0003	0.0002	0	0.0004	0.0009	0	0	0.0005	9.083e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.569e-05	6.275e-05	7.285e-05	4.239e-05	2.404e-05	0	0.0002	0.0003	0	0	0.0034	0.0001	0.0009	0.0004	0.619	0.05325	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.007788	0.31194	N	0.436713	0.973599	0.39036	D	-0.475	0.02701	N	2.06	0.20523	T	0.48	0.03041	N	0.026	0.00527	-1.0212	0.23324	T	0.025	0.10598	T	10	0.009372652	0.00212	T	0.003044	0.06547	T	0.018	0.03083	.	.	0.0551355673512	0.04727	0.24108691139465793	0.24022	0.364596557504	0.38073	0.431156933308	0.29366	T	0.012099	0.10690	T	-0.613871	0.00120	T	-0.797594	0.01964	T	0.00561332765786522	0.00061	T	0.671133	0.27986	T	0.04408985	0.06987	0.051787104	0.08404	0.04408985	0.06987	0.051787104	0.08403	-3.38	0.14788	T	.	.	0.063	0.01449	B	.	.	0.649636	0.10179	6.922	0.87917283541257307	0.17578	0.20700	0.21137	N	AEFDBCI	0.116320	0.22834	N	-0.881419298240098	0.11285	0.5437851	-0.717611226492627	0.16522	0.8744346	0.184506649209992	0.17917	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	2.31	0.27816	0.635000	0.24318	0.136000	0.15109	-0.182000	0.10109	0.043000	0.21118	0.840000	0.27292	0.992000	0.67800	0.0:0.7048:0.0:0.2952	9.092	0.35778	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	3553.14	117	chr1	20501054	.	C	T	3553.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.56;DP=535;ExcessHet=0.2348;FS=2.896;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=1.49;SOR=0.517	GT:AD:DP:GQ:PL	0/1:49,73:122:99:1937,0,1182	8	0	2	0
chr1	21890602	21890602	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon4:c.G337A:p.E113K,HSPG2:NM_005529:exon4:c.G337A:p.E113K	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	863701	Chromosome_1p36_deletion_syndrome|Schwartz-Jampel_syndrome|Inborn_genetic_diseases|Lethal_Kniest-like_syndrome|not_provided	MONDO:MONDO:0011929,MeSH:C535362,MedGen:C1842870,OMIM:607872,Orphanet:1606|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0160572550652	0.0005	.	0.0002	0.0002	0	0	0	0.0004	0.0011	0	0.0002199	34	154602	rs144511257	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	8.963e-05	8.945e-05	0	0	0	0.0017	0.0006	0.0007	1.16e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0003	0	0	0	0.0034	0.0005	0.0005	0.0002	0.027	0.46513	D	0.006	0.70582	D	0.034	0.20480	B	0.007	0.12992	B	0.109312	0.19490	N	0.368285	0.995756	0.42840	D	1.555	0.39373	L	-1.03	0.76430	T	-2.03	0.46673	N	0.267	0.30233	-0.6255	0.63760	T	0.292	0.66345	T	10	0.11313155	0.21243	T	0.016057	0.37127	T	0.135	0.36572	.	.	0.745187905424	0.74289	0.647176457325919	0.64652	0.234190946907	0.25956	0.506859242916	0.39783	T	0.342255	0.71105	T	-0.290173	0.09619	T	-0.322525	0.42298	T	0.0196864850148132	0.00671	T	0.865813	0.56549	D	0.21319883	0.43692	0.15297145	0.35967	0.21319883	0.43692	0.15297145	0.35966	-2.75	0.07733	T	.	.	0.147	0.32372	B	.	.	3.188343	0.43307	21.7	0.99821508604437037	0.90414	0.92501	0.55860	D	AEFBCI	0.382408	0.46430	N	-0.10292264401696	0.37266	2.165605	0.0742020907979777	0.43257	2.63116	0.999999426586057	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.58	4.67	0.58089	2.831000	0.47845	2.199000	0.31271	0.599000	0.40250	0.989000	0.36753	0.977000	0.30130	0.997000	0.79791	0.0:0.9174:0.0:0.0826	12.262	0.53975	773	0.48803	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1402.43	37	chr1	21890602	.	C	T	1402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=458;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.92;SOR=0.573	GT:AD:DP:GQ:PL	0/1:71,60:131:99:1414,0,1575	9	0	1	0
chr1	22784429	22784429	C	T	exonic	EPHB2	.	nonsynonymous SNV	EPHB2:NM_001309192:exon3:c.C164T:p.T55M,EPHB2:NM_001309193:exon3:c.C164T:p.T55M,EPHB2:NM_004442:exon3:c.C164T:p.T55M,EPHB2:NM_017449:exon3:c.C164T:p.T55M	.	.	.	.	.	.	.	.	.	.	.	2733130	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.0107857874121	.	0.000199681	2.48e-05	0	8.675e-05	0	0	3.004e-05	0	0	2.59e-05	4	154602	rs202156735	3.557e-05	3.557e-05	4.084e-05	3.025e-05	0.0002	2.762e-05	2.501e-05	8.861e-05	6.427e-05	0	0.0002	0	0	0	0	3.327e-05	8.279e-05	2.319e-05	5.908e-05	5.905e-05	3.853e-05	8.054e-05	0.0003	3.074e-05	2.208e-05	8.868e-05	5.28e-05	2.405e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.19	0.61577	M	3.84	0.03675	T	-2.76	0.58569	D	0.791	0.78737	-1.2266	0.00036	T	0.041	0.17827	T	10	0.50504863	0.61769	D	0.010786	0.27726	T	0.303	0.62400	.	.	0.539130046914	0.53565	0.4975187350104011	0.49672	1.3443435746	0.83939	0.795471489429	0.81274	T	0.006264	0.47589	T	-0.11981	0.33155	T	-0.140576	0.60068	T	0.605892956256866	0.36635	D	0.971703	0.89738	D	0.6522093	0.75482	0.29366016	0.55395	0.6522093	0.75483	0.29366016	0.55395	-9.517	0.71362	D	.	.	0.696	0.72787	P	.;.;.;.;.	.;.;.;.;.	5.741297	0.93333	33	0.99922273151202701	0.98852	0.97325	0.74040	D	AEFDBI	0.883030	0.81163	D	0.738289564540198	0.82140	7.689826	0.734670944976439	0.85008	8.454061	0.999999999902251	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.844000	0.85149	7.686000	0.65553	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.435	0.87441	473	0.77910	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 2, ligand binding domain;.;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 2, ligand binding domain;.;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 2, ligand binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1407.43	34	chr1	22784429	.	C	T	1407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.641;SOR=0.727	GT:AD:DP:GQ:PL	0/1:91,62:153:99:1419,0,2276	9	0	1	0
chr1	23751882	23751882	C	T	exonic	ELOA	.	nonsynonymous SNV	ELOA:NM_003198:exon4:c.C1355T:p.T452I	.	432	1065	25	0	0	25	0.0116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00429978092574	0.0005	0.000998403	0.0017	0.0002	0.0003	0	0.0005	0.0019	0.0034	0.0043	0.0014618	226	154602	rs141899107	0.0013	0.0013	0.0011	0.0015	0.0102	0.0013	0.0012	0.0081	0.0074	0.0005	0.0004	0.0044	0	0.0005	0.0102	0.0011	0.0018	0.0044	0.0011	0.0011	0.0012	0.0010	0.0035	0.0010	0.0009	0.0022	0.0018	0.0003	0	0.0004	0.0029	0	9.432e-05	0.0204	0.0016	0.0038	0.0035	0.108	0.29420	T	0.037	0.52389	D	0.03	0.20002	B	0.012	0.16012	B	0.003364	0.35041	N	0.253566	0.966603	0.25886	N	2.015	0.55033	M	3.21	0.07125	T	-1.59	0.38345	N	0.227	0.27197	-1.0705	0.09304	T	0.026	0.11264	T	10	0.0032594204	0.00056	T	0.004	0.10435	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.11500535156170279	0.11428	0.355051239597	0.37268	0.483763575554	0.36575	T	0.224116	0.58846	T	-0.552325	0.00282	T	-0.566023	0.15816	T	0.018541931672838	0.00569	T	0.657134	0.26688	T	0.04585418	0.07578	0.05966502	0.11235	0.04585418	0.07577	0.05966502	0.11234	-5.875	0.45221	T	.	.	0.146	0.36375	B	.;.;.	.;.;.	2.686434	0.35059	19.80	0.99772456471043602	0.86003	0.97449	0.74821	D	AEFDBCI	0.662336	0.63224	D	-0.162840461811711	0.34691	1.983129	-0.073760450604231	0.36479	2.123462	0.999999885705016	0.74766	0.706548	0.73137	0	0.639134	0.57113	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	4.94	0.64645	5.272000	0.65369	3.955000	0.40703	0.596000	0.33519	0.522000	0.27127	0.388000	0.24649	0.384000	0.26424	0.0:0.932:0.0:0.068	15.076	0.71746	478	0.77585	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.015152	0.010870	0.023392	0.000000	0.008621	0.012195	0.022727	0.05	753.43	36	chr1	23751882	.	C	T	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.186;DP=387;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.814;SOR=1.294	GT:AD:DP:GQ:PL	0/1:34,29:63:99:765,0,928	9	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,44:44:99:1|1:26282291_C_T:1898,132,0:26282291	0	4	6	0
chr1	26337616	26337616	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon9:c.T3566C:p.I1189T	.	419	1102	1	0	0	1	0.000453515	.	.	.	3429805	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.661	0.0977379463425	.	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0	9.06e-05	14	154602	rs564390494	5.886e-05	5.883e-05	5.856e-05	5.916e-05	0.0007	4.879e-05	4.498e-05	0.0002	0.0002	0.0001	0.0003	0	0	0	0.0007	5.486e-05	4.969e-05	0	7.897e-05	7.878e-05	0.0001	4.04e-05	0.0003	4.503e-05	3.517e-05	0.0001	8.301e-05	0	0	0.0003	0	0	0	0	7.357e-05	0.0009	0	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	0.000162	0.48594	D	0.243081	0.999406	0.81001	D	.	.	.	.	.	.	.	.	.	0.759	0.75742	-0.3156	0.74546	T	0.403	0.75359	T	10	0.45656005	0.59025	T	0.097738	0.76824	D	0.661	0.87332	.	.	0.823787080964	0.82212	0.7668235288479623	0.76631	0.379646040224	0.39352	0.56279283762	0.47662	T	.	.	.	-0.0366623	0.46442	T	0.011282	0.71065	D	0.465638905763626	0.31371	T	0.821518	0.48098	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.68834	A	.;.;.	.;.;.	3.637801	0.51562	23.1	0.99811948636811731	0.89531	0.97488	0.75073	D	AEFDGBCI	0.780451	0.71234	D	0.440291269893721	0.63654	4.603414	0.467466387328211	0.65844	4.875675	0.999999999691942	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.83	4.83	0.61880	4.722000	0.61651	11.206000	0.89223	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.380	0.60207	407	0.82314	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;.;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	838.43	40	chr1	26337616	.	A	G	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.78;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.319;SOR=0.804	GT:AD:DP:GQ:PL	0/1:37,37:74:99:850,0,804	9	0	1	0
chr1	28529938	28529938	G	C	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G72C:p.K24N,RCC1:NM_001048195:exon2:c.G72C:p.K24N,RCC1:NM_001269:exon2:c.G72C:p.K24N,RCC1:NM_001048199:exon4:c.G72C:p.K24N,RCC1:NM_001381865:exon5:c.G72C:p.K24N,RCC1:NM_001381866:exon5:c.G72C:p.K24N	.	.	.	.	.	.	.	.	0.0005	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0722973044124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.013	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.79565	0.34444	D	0.975	0.24501	L	-1.42	0.80645	T	-2.69	0.57435	D	0.534	0.59816	-0.3382	0.73896	T	0.360	0.72216	T	10	0.3560201	0.52350	T	0.072297	0.71496	D	0.385	0.70194	0.466	0.53729	0.810979576649	0.80920	0.4355928167309696	0.43476	1.08794106341	0.77349	0.71510207653	0.69333	T	0.171459	0.51959	T	-0.0209551	0.48717	T	-0.267877	0.48035	T	0.966483950614929	0.67598	D	0.647135	0.26150	T	0.8713628	0.88969	0.54599774	0.73756	0.8713628	0.88971	0.54599774	0.73757	-4.422	0.41312	T	.	.	0.469	0.83749	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.349977	0.46200	22.3	0.9977828321055946	0.86519	0.71592	0.35080	D	AEFDBI	0.232333	0.35542	N	0.0636588868213935	0.44772	2.745291	0.054517838595966	0.42291	2.555406	0.945564337054047	0.27666	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.591	0.16648	0.093000	0.14925	1.729000	0.28315	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.4743:0.0:0.5257:0.0	6.317	0.20404	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	.	.	.	.	.	.	.	.	0.1111	79.95	35	chr1	28529938	.	G	C	79.95	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.034;DP=609;ExcessHet=0.2348;FS=143.236;InbreedingCoeff=-0.1618;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.43;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,23:88:34:.:.:34,0,1141:.	7	0	2	1
chr1	36319756	36319756	C	A	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon11:c.C760A:p.P254T,SH3D21:NM_001162530:exon14:c.C1093A:p.P365T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00243855083924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.02639	T	0.602	0.13752	T	0.017	0.17573	B	0.004	0.10090	B	0.000384	0.00589	N	4.340490	0.999998	0.08975	N	.	.	.	1.41	0.33412	T	0.25	0.04456	N	0.032	0.01658	-1.0722	0.08936	T	0.045	0.19437	T	10	0.029398263	0.01067	T	0.002439	0.04813	T	0.021	0.04004	.	.	0.0482279557977	0.04254	0.12635905994842528	0.12561	0.0726139888811	0.08138	0.1910918504	0.00245	T	.	.	.	-0.307873	0.07936	T	-0.680014	0.06982	T	0.196177318692207	0.20202	T	0.426857	0.11519	T	.	.	.	.	.	.	.	.	-0.731	0.00815	T	.	.	0.062	0.02145	B	.;.	.;.	-0.910913	0.00907	0.034	0.80219557440922995	0.13100	0.00125	0.00780	N	AEFDGBI	0.016911	0.00409	N	-1.38475300776244	0.02780	0.1232611	-1.40123763431813	0.03240	0.1507322	0.999986932244467	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	3.49	-0.639	0.10920	-0.447000	0.06901	2.200000	0.31279	-0.146000	0.12295	0.000000	0.06391	0.965000	0.29475	0.001000	0.02609	0.4113:0.2378:0.351:0.0	3.506	0.07249	127	0.94899	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	855.43	35	chr1	36319756	.	C	A	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.247;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.96;SOR=0.749	GT:AD:DP:GQ:PL	0/1:30,31:61:99:867,0,830	9	0	1	0
chr1	39315649	39315649	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon26:c.A3422G:p.K1141R	.	431	1068	23	0	0	23	0.0106531	.	.	.	2127577	not_provided|MACF1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.380	0.0345361033051	0.0003	0.00119808	0.0007	0.0002	0.0003	0	0	0.0005	0	0.0031	0.0006921	107	154602	rs151139850	0.0005	0.0005	0.0004	0.0007	0.0076	0.0005	0.0005	0.0058	0.0052	0	0.0006	0.0005	0	0	0.0076	0.0003	0.0009	0.0036	0.0007	0.0007	0.0007	0.0007	0.0048	0.0006	0.0006	0.0033	0.0028	0.0002	0.0439	0.0003	0	0	0	0.0068	0.0004	0.0009	0.0048	0.216	0.58626	T	0.076	0.64786	T	0.993	0.65571	D	0.888	0.63021	P	.	.	.	.	0.959664	0.31396	N	.	.	.	-1.39	0.80387	T	-1.49	0.42191	N	0.572	0.61849	0.005	0.82361	D	0.595	0.85561	D	9	0.007915109	0.00180	T	0.034536	0.55743	D	0.380	0.69780	.	.	0.660878753513	0.65803	0.5317333108075932	0.53098	.	.	0.510408580303	0.40280	T	0.079662	0.56022	T	-0.231864	0.16402	T	-0.108884	0.62700	T	0.0492496037244489	0.05368	T	0.872813	0.58193	D	0.1292021	0.30185	0.2361403	0.48877	0.1292021	0.30184	0.2361403	0.48876	-5.149	0.39346	T	.	.	0.108	0.25689	B	.;.;.;.;.;.	.;.;.;.;.;.	2.913246	0.38653	20.8	0.99830827131387634	0.91284	0.97971	0.78532	D	AEFBI	0.658986	0.63006	D	0.352168965404022	0.58853	4.060316	0.429410384901609	0.63405	4.573555	0.999996552906235	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	4.265000	0.58663	8.138000	0.76675	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.422	0.83604	563	0.71062	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.008152	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1097.43	34	chr1	39315649	.	A	G	1097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=412;ExcessHet=0;FS=0.78;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.065;SOR=0.581	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1109,0,1212	9	0	1	0
chr1	40547125	40547125	G	C	exonic	ZNF684	.	nonsynonymous SNV	ZNF684:NM_152373:exon5:c.G802C:p.E268Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.00465851455191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002962	0.35639	N	0.000000	0.983049	0.39965	D	1.64	0.41913	L	0.33	0.58323	T	-2.86	0.60188	D	0.2	0.22098	-0.4443	0.70588	T	0.301	0.67205	T	10	0.4455493	0.58373	T	0.004659	0.11566	T	0.235	0.53788	0.309	0.28128	0.303123707472	0.29912	0.02825999426629209	0.02775	0.40674524776	0.41549	0.448014676571	0.31673	T	0.142468	0.47808	T	-0.0377857	0.46277	T	-0.292053	0.45558	T	0.981740236282349	0.74087	D	0.693931	0.30359	T	0.34812194	0.56921	0.3328065	0.59125	0.34812194	0.56921	0.3328065	0.59124	-6.335	0.48999	T	.	.	0.147	0.32565	B	.;.	.;.	3.755443	0.53849	23.4	0.99718663152016718	0.81914	0.89047	0.49283	D	AEFDGBHCI	0.587761	0.58529	D	0.567873566761143	0.71178	5.611372	0.53371011611774	0.70273	5.480936	0.999997542826123	0.74766	0.566229	0.32551	0	0.546412	0.12157	0	0.463624	0.06942	0	0.674467	0.66132	0	.	.	4.29	4.29	0.50359	5.095000	0.64363	.	.	0.618000	0.50648	1.000000	0.71638	.	.	0.996000	0.76049	0.0:0.0:1.0:0.0	14.634	0.68277	451	0.79296	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	.	.	.	.	.	.	.	.	0.05	1028.43	33	chr1	40547125	.	G	C	1028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.494;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-1.747;SOR=0.679	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1040,0,1358	9	0	1	0
chr1	43972215	43972215	A	G	exonic	DPH2	.	nonsynonymous SNV	DPH2:NM_001039589:exon4:c.A542G:p.D181G,DPH2:NM_001319169:exon4:c.A821G:p.D274G,DPH2:NM_001319165:exon5:c.A998G:p.D333G,DPH2:NM_001319166:exon5:c.A953G:p.D318G,DPH2:NM_001319167:exon5:c.A647G:p.D216G,DPH2:NM_001319168:exon5:c.A998G:p.D333G,DPH2:NM_001319170:exon5:c.A647G:p.D216G,DPH2:NM_001319171:exon5:c.A782G:p.D261G,DPH2:NM_001384:exon5:c.A1226G:p.D409G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.28220818162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.036	0.52060	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	.	.	.	-5.6	0.89029	D	0.679	0.68603	-0.1692	0.78448	T	0.427	0.77048	T	9	0.7415736	0.74995	D	0.282208	0.90271	D	0.463	0.75956	0.55	0.66576	0.69948658266	0.69688	0.8440117469127337	0.84362	1.01093469591	0.74771	0.68488073349	0.64970	T	0.402893	0.75980	T	0.259855	0.79517	D	0.135487	0.79251	D	0.980390548706055	0.73336	D	0.866813	0.59716	D	0.6886792	0.77440	0.6079229	0.77201	0.6886792	0.77441	0.6079229	0.77202	-3.816	0.21044	T	.	.	0.324	0.60378	B	.;.;.	.;.;.	4.155522	0.62368	24.4	0.98363578424553888	0.40668	0.95273	0.64083	D	AEFDBHCI	0.597984	0.59156	D	0.509847346424808	0.67669	5.112753	0.411432766905397	0.62274	4.440351	0.999999999988721	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	3.048000	0.49552	9.396000	0.80612	0.729000	0.85517	1.000000	0.71638	1.000000	0.68203	0.349000	0.25636	1.0:0.0:0.0:0.0	12.475	0.55144	313	0.87327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2751.43	44	chr1	43972215	.	A	G	2751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=565;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.115;SOR=0.865	GT:AD:DP:GQ:PL	0/1:117,112:229:99:2763,0,2778	9	0	1	0
chr1	46185497	46185497	G	A	exonic	TSPAN1	.	nonsynonymous SNV	TSPAN1:NM_005727:exon9:c.G690A:p.M230I	.	413	1103	5	1	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.0883654677359	0.0028	0.00139776	0.0030	0.0005	0.0022	0	0.0032	0.0039	0.0033	0.0030	0.0028654	443	154602	rs34463133	0.0029	0.0029	0.0029	0.0029	0.0034	0.0028	0.0028	0.0032	0.0031	0.0004	0.0014	0.0003	0.0001	0.0023	0.0033	0.0032	0.0023	0.0034	0.0022	0.0022	0.0022	0.0021	0.0035	0.0020	0.0019	0.0030	0.0028	0.0007	0.0011	0.0012	0	0	0.0033	0	0.0033	0.0014	0.0035	0.163	0.23450	T	0.016	0.60972	D	0.957	0.54824	D	0.859	0.61184	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	-1.16	0.78082	T	-2.68	0.57275	D	0.338	0.37923	-0.1596	0.78681	T	0.533	0.82709	D	10	0.013733625	0.00290	T	0.088365	0.75120	D	0.627	0.85615	0.658	0.79585	0.652953024311	0.65006	0.7969632555474615	0.79649	0.777021582019	0.65084	0.477970838547	0.35777	T	0.298677	0.67123	T	0.0068506	0.52596	T	0.235908	0.84954	D	0.0196533650159836	0.00668	T	0.849815	0.53298	T	0.62144357	0.73841	0.5577279	0.74415	0.62144357	0.73842	0.5577279	0.74416	-6.471	0.50062	T	.	.	0.895	0.82395	P	.	.	4.477672	0.69836	25.4	0.99572763326683877	0.72501	0.84188	0.43271	D	AEFDGBHCI	0.814069	0.73639	D	0.550366806505879	0.70105	5.452827	0.564604200701153	0.72420	5.806931	0.999999999999966	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.36	5.36	0.76624	6.395000	0.73157	9.977000	0.82899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.230	0.82154	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.05	1725.43	40	chr1	46185497	.	G	A	1725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.882;DP=495;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.11;SOR=0.665	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1737,0,1698	9	0	1	0
chr1	47148753	47148753	C	T	exonic	CYP4A22	.	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1516T:p.L506F	.	416	1010	94	2	0	98	0.0462701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0085	0.00878594	0.0102	0.0088	0.0061	0	0.0005	0.0061	0.0113	0.0416	0.0090426	1398	154602	rs61736430	0.0078	0.0078	0.0068	0.0088	0.0391	0.0077	0.0076	0.0380	0.0376	0.0094	0.0069	0.0086	2.519e-05	0.0006	0.0193	0.0058	0.0098	0.0391	0.0078	0.0078	0.0074	0.0082	0.0340	0.0074	0.0073	0.0298	0.0282	0.0088	0	0.0118	0.0075	0	0.0004	0.0034	0.0062	0.0076	0.0340	0.001	0.78490	D	0.003	0.76473	D	0.983	0.60381	D	0.917	0.65306	D	0.000250	0.46924	D	0.139605	1	0.08975	N	3.185	0.88900	M	-0.89	0.74793	T	-2.6	0.63090	D	0.27	0.36779	-0.6509	0.62675	T	0.344	0.70940	T	10	0.006461054	0.00146	T	.	.	.	0.272	0.58758	.	.	.	.	0.6044885089393155	0.60379	0.784704493341	0.65455	0.381250858307	0.22433	T	0.136	0.46876	T	-0.494442	0.00614	T	-0.45444	0.27208	T	0.0607866177424227	0.07291	T	0.787421	0.54241	T	0.42484096	0.62412	0.3200535	0.57963	0.42484096	0.62413	0.3200535	0.57962	-3.301	0.13750	T	.	.	0.218	0.44847	B	.;.;.	.;.;.	3.186690	0.43278	21.7	0.98604990409770055	0.43559	0.01778	0.05572	N	AEFBI	0.211497	0.33728	N	-0.312845371961962	0.28660	1.582626	-0.564413672780458	0.20423	1.100303	0.00114662903407456	0.08272	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	-0.188000	0.09638	0.991000	0.23192	0.439000	0.21057	0.002000	0.15269	0.611000	0.25768	0.010000	0.09038	0.0:0.864:0.0:0.136	8.230	0.30750	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	0.014099	0.000000	0.009511	0.014620	0.000000	0.008621	0.018293	0.026515	0.05	2160.43	141	chr1	47148753	.	C	T	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.72;DP=916;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.52;MQRankSum=-0.455;QD=10.19;ReadPosRankSum=1.42;SOR=0.757	GT:AD:DP:GQ:PL	0/1:120,92:212:99:2172,0,3076	9	0	1	0
chr1	47417213	47417213	A	G	exonic	FOXE3	.	nonsynonymous SNV	FOXE3:NM_012186:exon1:c.A898G:p.S300G	Anterior segment dysgenesis 2, multiple subtypes, Autosomal recessive;Cataract 34, multiple types	11	1478	31	2	0	35	0.0117018	.	.	.	270847	not_specified|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Anterior_segment_dysgenesis|Congenital_primary_aphakia|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632|MONDO:MONDO:0012456,MedGen:C1853230,OMIM:610256,Orphanet:83461|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.290	.	.	0.00159744	0.0056	0	0	0	.	0.0140	0	0.0046	0.0004463	69	154602	rs552420470	0.0031	0.0028	0.0031	0.0031	0.0075	0.0030	0.0030	0.0052	0.0044	0.0004	0.0010	0.0068	0	0.0162	0.0075	0.0027	0.0044	0.0023	0.0035	0.0035	0.0028	0.0042	0.0034	0.0032	0.0031	0.0030	0.0029	0.0009	0.0198	0.0009	0.0072	0	0.0174	0.0068	0.0034	0.0014	0.0031	0.792	0.03184	T	0.539	0.09795	T	0.0	0.02946	B	0.0	0.01387	B	0.295066	0.14698	N	0.476851	0.999999	0.08975	N	-0.55	0.02420	N	-3.35	0.94022	D	-0.04	0.07590	N	0.009	0.00081	-0.5843	0.65447	T	0.449	0.78413	T	10	0.002399385	0.00036	T	.	.	.	0.290	0.60924	.	.	0.278968121808	0.27521	0.25902939876241915	0.25816	.	.	0.85276901722	0.90032	D	0.047203	0.27653	T	-0.49657	0.00598	T	-0.485524	0.23862	T	0.00355428885476566	0.00038	T	0.349665	0.07767	T	0.0522095	0.09705	0.084667906	0.19493	0.06239897	0.13029	0.09056662	0.21243	-1.467	0.01698	T	.	.	0.063	0.01428	B	.	.	0.543012	0.09114	5.899	0.54533621611238681	0.05157	0.04776	0.10488	N	AEFDBHCI	0.022941	0.01212	N	-1.41013078079519	0.02549	0.1127034	-1.40882137805127	0.03163	0.1470107	0.99369782197003	0.33317	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.4	-2.55	0.05922	-0.911000	0.04159	0.151000	0.15292	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.3845:0.0:0.6155:0.0	11.549	0.49966	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	1	0	0.006151	0.000000	0.000000	0.000000	0.000000	0.000000	0.009709	0.025641	0.05	306.43	30	chr1	47417213	.	A	G	306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=298;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.613;SOR=0.537	GT:AD:DP:GQ:PL	0/1:23,15:38:99:318,0,544	9	0	1	0
chr1	48222849	48222849	T	C	exonic	SLC5A9	.	nonsynonymous SNV	SLC5A9:NM_001011547:exon1:c.T113C:p.I38T,SLC5A9:NM_001135181:exon1:c.T113C:p.I38T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.860	0.138154770501	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262781512	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.055	0.52060	T	0.981	0.59675	D	0.69	0.53781	P	0.000000	0.84330	D	0.052195	1	0.81001	D	3.08	0.87267	M	-2.42	0.88997	D	-4.24	0.76015	D	0.837	0.83269	0.708	0.93281	D	0.784	0.92656	D	10	0.96694136	0.96196	D	0.138155	0.82065	D	0.860	0.95728	0.797	0.91729	0.372993862945	0.36913	0.6035771831916372	0.60288	0.743471328655	0.63393	0.618409514427	0.55504	T	0.035255	0.23648	T	0.354249	0.86805	D	0.286564	0.87475	D	0.988575994968414	0.78889	D	0.845515	0.54193	T	0.35953644	0.57800	0.3097623	0.56989	0.35953644	0.57801	0.3097623	0.56988	-11.722	0.83552	D	.	.	0.290	0.54918	B	.;.;.	.;.;.	4.146697	0.62175	24.4	0.99478474922354443	0.66741	0.98176	0.80261	D	AEFGBHCI	0.891590	0.82770	D	0.515722283181784	0.68018	5.159916	0.437747953751464	0.63934	4.637425	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	7.479000	0.80115	7.698000	0.66136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:0.0:1.0	14.297	0.65878	911	0.21964	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1751.43	37	chr1	48222849	.	T	C	1751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.309;DP=453;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.768;SOR=0.765	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1763,0,1642	9	0	1	0
chr1	50419359	50419359	C	G	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.G935C:p.R312P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0994541454182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.384e-06	1.368e-06	1.378e-06	1.391e-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	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	0.008	0.67890	D	0.996	0.68779	D	0.839	0.60107	P	0.002469	0.36499	N	0.000000	0.999375	0.46831	D	1.355	0.33814	L	1.6	0.28604	T	-2.81	0.59389	D	0.434	0.47301	-1.0555	0.12908	T	0.101	0.37341	T	10	0.37453818	0.53730	T	0.099454	0.77111	D	0.132	0.35948	0.375	0.38830	0.297375071883	0.29337	0.5274210766178218	0.52666	.	.	0.90724414587	0.97202	D	0.148845	0.48758	T	-0.0939158	0.37428	T	-0.37268	0.36576	T	0.970004320144653	0.68793	D	0.69773	0.30785	T	0.5835239	0.71800	0.70281345	0.82485	0.5835239	0.71802	0.70281345	0.82486	-9.284	0.69506	D	.	.	0.204	0.45726	B	.;.	.;.	4.839655	0.78995	27.0	0.99718875397191109	0.81914	0.97800	0.77226	D	AEFDBHCI	0.884754	0.81471	D	0.449888103460817	0.64196	4.668886	0.424793800139835	0.63113	4.538803	0.999998741782829	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.8	3.8	0.42887	3.469000	0.52857	4.655000	0.44213	0.524000	0.24156	0.986000	0.36153	1.000000	0.68203	0.978000	0.57271	0.0:0.8934:0.0:0.1065	9.463	0.37962	560	0.71333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1071.43	34	chr1	50419359	.	C	G	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.026;DP=423;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.456;SOR=0.782	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1083,0,918	9	0	1	0
chr1	59346346	59346346	G	A	exonic	FGGY	.	nonsynonymous SNV	FGGY:NM_001350796:exon3:c.G77A:p.G26E,FGGY:NM_001350798:exon3:c.G77A:p.G26E,FGGY:NM_001350799:exon3:c.G77A:p.G26E,FGGY:NM_001113411:exon4:c.G413A:p.G138E,FGGY:NM_001350790:exon4:c.G413A:p.G138E,FGGY:NM_001350791:exon4:c.G413A:p.G138E,FGGY:NM_001350794:exon4:c.G413A:p.G138E,FGGY:NM_018291:exon4:c.G413A:p.G138E,FGGY:NM_001350792:exon6:c.G245A:p.G82E,FGGY:NM_001350793:exon6:c.G245A:p.G82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.738	0.193895882663	.	.	8.266e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs779045174	6.166e-06	6.156e-06	4.09e-06	8.263e-06	3.598e-06	2.9e-06	2.1e-06	8.4e-07	5.7e-07	0	0	0	0	9.361e-05	0	3.598e-06	0	0	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	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	4.08	0.97210	H	-0.42	0.69536	T	-7.82	0.95977	D	0.935	0.94432	0.464	0.90039	D	0.629	0.86972	D	9	0.9892709	0.99383	D	0.193896	0.86330	D	0.738	0.90895	0.949	0.99388	0.581818759506	0.57853	0.9134911326794277	0.91324	0.22430122532	0.24958	0.675413250923	0.63611	T	0.230378	0.65238	T	0.393456	0.89533	D	0.327396	0.89401	D	0.999330282211304	0.97004	D	0.999084	0.99613	D	0.92842937	0.94080	0.91178113	0.95816	0.92842937	0.94081	0.91178113	0.95816	-14.052	0.93931	D	.	.	0.956	0.93009	P	.;.;.	.;.;.	4.133872	0.61886	24.4	0.99589933293571298	0.73513	0.68214	0.33718	D	AEFBCI	0.931117	0.91945	D	0.798131249997956	0.85989	8.743732	0.662830339976439	0.79568	7.110282	0.999999995846619	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.622129	0.49086	0	.	.	5.49	5.49	0.81022	8.715000	0.91114	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	19.180	0.93604	963	0.08280	Carbohydrate kinase, FGGY, N-terminal;.;Carbohydrate kinase, FGGY, 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	.	.	.	.	.	.	.	.	0.05	1452.43	34	chr1	59346346	.	G	A	1452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.821;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=1.12;SOR=0.661	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1464,0,1743	9	0	1	0
chr1	63651700	63651700	G	A	exonic	PGM1	.	nonsynonymous SNV	PGM1:NM_001172818:exon9:c.G1366A:p.A456T,PGM1:NM_001172819:exon9:c.G721A:p.A241T,PGM1:NM_002633:exon9:c.G1312A:p.A438T	Congenital disorder of glycosylation, type It, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1927854	PGM1-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.0381336770999	.	0.000199681	5.054e-05	0.0002	8.839e-05	0	0	4.592e-05	0	0	6.47e-05	10	154602	rs201303497	1.369e-05	1.573e-05	9.532e-06	1.788e-05	0.0002	8.94e-06	7.27e-06	8.36e-06	5.72e-06	0	2.238e-05	0	5.044e-05	0	0.0002	1.259e-05	3.314e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0	2.94e-05	0	0	0.069	0.36310	T	0.015	0.61642	D	0.94	0.77913	P	0.306	0.59428	B	0.000000	0.84330	D	0.000000	0.999295	0.46578	D	3.675	0.94400	H	0.79	0.49068	T	-2.64	0.58085	D	0.635	0.64818	-0.3323	0.74067	T	0.263	0.63394	T	10	0.61328554	0.67564	D	0.038134	0.58041	D	0.396	0.71084	.	.	0.686562002565	0.68387	0.6649921547793766	0.66436	0.567138394775	0.52986	0.583700299263	0.50607	T	0.719569	0.92064	D	0.077768	0.61778	D	0.0560788	0.73985	D	0.943886935710907	0.61949	D	0.918108	0.70532	D	0.53216815	0.68954	0.28257906	0.54247	0.53216815	0.68955	0.28257906	0.54246	-8.03	0.68038	D	0.4963731691693412	0.57235	0.681	0.72474	P	.;.;.;.	.;.;.;.	4.819160	0.78469	26.9	0.99927978759564073	0.99222	0.95702	0.65792	D	AEFGBCI	0.954016	0.97078	D	0.661565365954056	0.77118	6.613783	0.582806570477629	0.73706	6.014803	0.999999997431719	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.69	4.78	0.60666	8.146000	0.89551	9.998000	0.83025	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0679:0.0:0.9321:0.0	15.182	0.72653	903	0.23940	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2532.43	35	chr1	63651700	.	G	A	2532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.503;DP=522;ExcessHet=0;FS=5.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.54;SOR=0.418	GT:AD:DP:GQ:PL	0/1:86,113:199:99:2544,0,1852	9	0	1	0
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	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,12:43:25:.:.:25,0,292:.	3	0	7	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,234:236:99:1|1:86580213_TCCTACA_T:9794,711,0:86580213	1	5	4	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1444.51	152	chr1	99884396	.	T	C	1444.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.239;DP=804;ExcessHet=2.8389;FS=173.721;InbreedingCoeff=-0.358;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=1.43;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,15:64:99:0|1:99884396_T_C:316,0,1900:99884396	5	0	5	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1070.13	151	chr1	99884400	.	T	C	1070.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.868;DP=818;ExcessHet=2.8389;FS=160.887;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=1.64;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,15:63:99:0|1:99884396_T_C:319,0,1871:99884396	5	0	5	0
chr1	103620582	103620582	G	A	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon5:c.G776A:p.S259N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0420078793477	.	.	2.942e-05	0	0	0	0	1.751e-05	0	0.0002	3.84e-05	1	26028	rs775695406	9.73e-06	2.062e-05	8.306e-06	1.117e-05	4.682e-05	5.65e-06	4.42e-06	1.593e-05	9.37e-06	3.01e-05	0	0	0	0	0	8.219e-06	0	4.682e-05	1.362e-05	1.983e-05	1.331e-05	1.394e-05	0.0002	2.26e-06	8.5e-07	.	.	0	0	0	0	0	0	0	1.528e-05	0	0.0002	0.095	0.31235	T	0.382	0.15890	T	0.358	0.33818	B	0.366	0.43381	B	0.185733	0.16981	N	0.638756	1	0.08975	N	1.27	0.32069	L	-4.86	0.98263	D	-1.35	0.33598	N	0.396	0.43706	0.673	0.92839	D	0.853	0.95111	D	10	0.30099422	0.47644	T	0.042008	0.60234	D	0.369	0.68844	0.358	0.36060	0.904549218002	0.90359	0.2172194502200928	0.21637	2.21200435668	0.95776	0.475389033556	0.35422	T	0.549	0.84684	D	0.0595312	0.59554	T	-0.152264	0.59042	T	0.537138521671295	0.33998	D	0.942906	0.78488	D	0.43687418	0.63200	0.24031447	0.49402	0.43687418	0.63201	0.24031447	0.49401	-7.546	0.57933	D	.	.	0.267	0.50781	B	.;.	.;.	3.265382	0.44675	22.0	0.97161620808618676	0.32634	0.20142	0.20930	N	AEFI	0.328007	0.42880	N	-0.314674808984962	0.28589	1.578198	-0.391367929160732	0.25253	1.387657	6.99757871862896E-5	0.04366	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.13	3.13	0.35090	3.827000	0.55445	6.294000	0.55403	0.320000	0.19365	0.323000	0.25529	0.999000	0.35428	0.072000	0.16771	0.0:0.0:0.7955:0.2045	9.886	0.40433	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	197.43	35	chr1	103620582	.	G	A	197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.187;DP=485;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.53;MQRankSum=0.208;QD=1.23;ReadPosRankSum=-0.018;SOR=0.593	GT:AD:DP:GQ:PL	0/1:133,27:160:99:209,0,3041	9	0	1	0
chr1	109627849	109627849	G	C	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon8:c.G963C:p.K321N,AMPD2:NM_001257361:exon9:c.G834C:p.K278N,AMPD2:NM_004037:exon9:c.G1026C:p.K342N,AMPD2:NM_139156:exon9:c.G945C:p.K315N,AMPD2:NM_001368809:exon10:c.G1026C:p.K342N	Pontocerebellar hypoplasia, type 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0706078502779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.34800	T	0.309	0.25362	T	0.641	0.90584	P	0.115	0.83170	B	0.000000	0.84330	N	0.047275	0.99499	0.42500	D	2.565	0.75005	M	-2.82	0.91192	D	-1.63	0.45404	N	0.714	0.74918	-0.0395	0.81428	T	0.598	0.85683	D	10	0.5678679	0.65153	D	0.070608	0.71049	D	0.271	0.58633	0.378	0.39319	0.834945890135	0.83337	0.9538939982333966	0.95373	1.81151216937	0.91805	0.880734622478	0.94059	D	0.416881	0.76970	T	0.031518	0.55925	T	-0.192503	0.55355	T	0.812048256397247	0.47193	D	0.935206	0.75689	D	0.18367572	0.39646	0.14593779	0.34593	0.18367572	0.39646	0.14593779	0.34592	-9.592	0.74091	D	.	.	0.818	0.78867	P	.;.;.;.;.;.	.;.;.;.;.;.	3.532749	0.49572	22.8	0.9976603430194787	0.85500	0.97658	0.76213	D	AEFBI	0.634860	0.61458	D	-0.117967397880545	0.36610	2.118501	-0.0657441383265564	0.36815	2.147465	0.788411208204607	0.23971	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	1.28	0.20656	2.065000	0.41068	1.273000	0.25303	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2942:0.0:0.5674:0.1384	5.095	0.14065	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	165.4	37	chr1	109627849	.	G	C	165.4	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.212;DP=727;ExcessHet=0.2348;FS=133.571;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=2.18;SOR=8.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,22:109:99:0|1:109627849_G_C:125,0,2466:109627849	8	0	1	1
chr1	112913896	112913896	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1498A:p.V500I,SLC16A1:NM_003051:exon5:c.G1498A:p.V500I	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00579887363399	.	.	8.241e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775789149	2.052e-06	2.052e-06	2.722e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	3.826e-05	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05245	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.227981	0.03499	N	1.660300	1	0.08975	N	0.55	0.14455	N	1.91	0.23283	T	-0.08	0.08187	N	0.176	0.20925	-1.0161	0.24980	T	0.012	0.04747	T	10	0.02623862	0.00795	T	0.005799	0.15072	T	0.024	0.04979	0.194	0.10571	0.110392049598	0.10638	0.1114119515998816	0.11070	0.27267148181	0.29773	0.374688088894	0.21502	T	0.09268	0.39053	T	-0.24671	0.14506	T	-0.592158	0.13480	T	0.0296397600322962	0.01935	T	.	.	.	0.057520118	0.11456	0.027764559	0.00953	0.057520118	0.11456	0.027764559	0.00953	-5.306	0.40003	T	.	.	0.087	0.11414	B	.;.	.;.	0.883975	0.12572	9.100	0.82721935294822513	0.14340	0.15420	0.18903	N	AEFBI	0.119331	0.23295	N	-0.776810929061314	0.13915	0.6891074	-0.660150425308615	0.17960	0.9573774	0.78596530235453	0.23930	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	1.91	0.24841	-0.045000	0.11957	-0.298000	0.10137	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.978000	0.57271	0.0:0.4979:0.3512:0.1509	5.613	0.16698	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	278.14	37	chr1	112913896	.	C	T	278.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.687;DP=470;ExcessHet=0.2348;FS=58.199;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=3.2;SOR=6.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,19:103:99:0|1:112913896_C_T:266,0,3147:112913896	8	0	2	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	722.66	82	chr1	112913901	.	C	G	722.66	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.427;DP=779;ExcessHet=1.5895;FS=141.989;InbreedingCoeff=-0.276;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.02;ReadPosRankSum=2.09;SOR=7.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,19:101:99:.:.:260,0,3193:.	6	0	4	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	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:81,44:135:99:313,0,979	0	0	10	0
chr1	117912072	117912072	T	C	exonic	GDAP2	.	nonsynonymous SNV	GDAP2:NM_001135589:exon5:c.A481G:p.M161V,GDAP2:NM_017686:exon5:c.A481G:p.M161V	.	434	1087	1	0	0	1	0.00045977	.	.	.	3539017	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00687899929341	0.0005	0.000599042	0.0002	9.699e-05	0	0	0	0.0003	0.0011	0.0002	0.0001746	27	154602	rs139796812	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.239e-05	0.0030	5.047e-05	0	0.0002	0.0002	0.0003	8.134e-05	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0	0.0043	0	0	0	0.0002	0	0	0.145	0.25154	T	0.107	0.38160	T	0.063	0.25247	B	0.037	0.23121	B	0.000000	0.84330	N	0.036199	0.999994	0.58761	D	0.11	0.08516	N	2.12	0.19726	T	-1.04	0.27259	N	0.387	0.42834	-1.0036	0.28874	T	0.010	0.03811	T	10	0.010946721	0.00241	T	0.006879	0.18205	T	0.047	0.12962	.	.	0.216624796971	0.21254	0.7107910349353793	0.71021	0.212482428968	0.23749	0.535027384758	0.43743	T	0.043684	0.26579	T	-0.439506	0.01302	T	-0.551024	0.17227	T	0.013131237493157	0.00231	T	0.79912	0.44420	T	0.5148736	0.67964	0.17213847	0.39446	0.42112902	0.62167	0.22178665	0.46999	-5.726	0.44574	T	.	.	0.176	0.44423	B	.;.	.;.	1.897475	0.24102	16.27	0.90902016897470617	0.20151	0.92157	0.55071	D	AEFBI	0.129007	0.24700	N	-0.480489328129975	0.22722	1.215197	-0.331692727939718	0.27082	1.500264	0.00791477960620308	0.11571	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.23	1.64	0.22949	2.913000	0.48487	0.297000	0.16936	0.658000	0.54486	1.000000	0.71638	0.072000	0.22236	0.970000	0.54328	0.0:0.2105:0.0:0.7895	9.186	0.36333	678	0.60190	Macro domain|Macro domain|Macro domain|GDAP2, macro 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	618.43	33	chr1	117912072	.	T	C	618.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.246;DP=363;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.25;SOR=0.683	GT:AD:DP:GQ:PL	0/1:20,30:50:99:630,0,409	9	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,28:153:21:0|1:145872713_C_G:21,0,4434:145872713	4	0	6	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,28:153:21:0|1:145872713_C_G:21,0,4434:145872713	4	0	6	0
chr1	147908392	147908392	C	T	exonic	GJA8	.	nonsynonymous SNV	GJA8:NM_005267:exon2:c.C437T:p.T146I	Cataract 1, multiple types, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.760	0.590691000881	.	0.000399361	3.296e-05	0	8.642e-05	0	0.0002	0	0	0.0001	3.88e-05	6	154602	rs200110674	2.463e-05	2.463e-05	1.225e-05	3.713e-05	0.0002	1.803e-05	1.6e-05	0.0001	9.45e-05	0	0	0	0	0.0002	0	8.093e-06	0	0.0002	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0002	1.26e-05	7.97e-06	.	.	0	0	6.532e-05	0	0	0.0003	0	0	0	0.0002	0.003	0.68238	D	0.023	0.57104	D	0.999	0.77913	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.1	0.28011	L	-4.5	0.97650	D	-2.95	0.61580	D	0.526	0.55540	1.054	0.98198	D	0.927	0.97604	D	10	0.5980559	0.66754	D	0.590691	0.96363	D	0.760	0.91837	.	.	0.905830307638	0.90489	0.8817680950635441	0.88144	.	.	0.741170525551	0.73145	T	0.893288	0.97849	D	0.0471921	0.57980	T	0.0666803	0.74689	D	0.34443318988117	0.26799	T	0.560744	0.19617	T	0.40541875	0.61106	0.45662418	0.68418	0.40541875	0.61106	0.45662418	0.68418	-7.676	0.58841	D	0.6012892887395832	0.66833	0.294	0.52491	B	.	.	3.915815	0.57135	23.8	0.99567199205755441	0.72136	0.91682	0.54040	D	AEFDBCI	0.781280	0.71291	D	0.420074872808369	0.62526	4.469976	0.378055389599786	0.60214	4.206572	0.999945564847389	0.47345	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.06	4.15	0.47978	6.110000	0.71213	3.984000	0.40930	-0.233000	0.07663	1.000000	0.71638	0.968000	0.29604	0.978000	0.57271	0.0:0.9247:0.0:0.0753	13.695	0.62052	952	0.10565	Connexin, 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	.	.	.	.	.	.	.	.	0.05	2316.43	33	chr1	147908392	.	C	T	2316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.629;DP=498;ExcessHet=0;FS=1.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.098;SOR=0.865	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2328,0,2222	9	0	1	0
chr1	147938751	147938751	C	T	exonic	GPR89B	.	nonsynonymous SNV	GPR89B:NM_001350180:exon3:c.C140T:p.T47M,GPR89B:NM_016334:exon3:c.C140T:p.T47M,GPR89B:NM_001350181:exon4:c.C65T:p.T22M,GPR89B:NM_001350182:exon4:c.C65T:p.T22M	.	.	.	.	.	.	.	.	.	.	.	2401302	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.00583877874165	7.7e-05	.	0.0008	0.0001	0.0001	0	0.0003	0.0014	0	7.95e-05	.	.	.	rs375851990	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0	0.0002	0.0013	2.54e-05	0.0004	0.0002	0.0007	0.0005	3.507e-05	0.0005	0.0005	0.0004	0.0006	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0.0033	0	0.0009	0	0.0002	0	0.0009	0	0	0.003	0.68238	D	0.109	0.37449	T	.	.	.	.	.	.	0.000037	0.55875	D	0.119636	1	0.81001	D	.	.	.	.	.	.	-4.47	0.77881	D	0.75	0.74918	-0.7545	0.57699	T	0.180	0.52690	T	8	0.06371182	0.08341	T	0.005839	0.15191	T	0.240	0.54500	.	.	0.102598925029	0.09809	0.7418395535122155	0.74129	2.0454015372	0.94308	0.721824109554	0.70312	T	0.161621	0.50596	T	-0.103123	0.35906	T	0.0227461	0.71807	D	0.19192826582253	0.19958	T	0.874313	0.58483	D	0.13305932	0.30961	0.19156146	0.42621	0.13305932	0.30961	0.19156146	0.42621	-8.715	0.65844	D	.	.	0.307	0.71750	B	.;.	.;.	4.411710	0.68252	25.2	0.99473268304088258	0.66472	0.88368	0.48264	D	AEFGI	0.415828	0.48453	N	0.0436599737566407	0.43851	2.670067	-0.00133421225437338	0.39655	2.354578	0.082111391894626	0.15892	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.25	3.34	0.37357	6.016000	0.70451	2.260000	0.31754	-1.235000	0.01322	1.000000	0.71638	0.979000	0.30280	0.069000	0.16583	0.0:0.9105:0.0:0.0895	11.905	0.51990	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000543	0.000000	0.000000	0.000000	0.000000	0.000000	0.003571	0.000000	0.05	1344.43	34	chr1	147938751	.	C	T	1344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=411;ExcessHet=0;FS=3.844;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.34;MQRankSum=-2.522;QD=13.44;ReadPosRankSum=1.23;SOR=0.386	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1356,0,1145	9	0	1	0
chr1	148117694	148117694	T	C	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon11:c.A1184G:p.N395S,NBPF11:NM_001385470:exon11:c.A1184G:p.N395S,NBPF11:NM_001385477:exon11:c.A959G:p.N320S,NBPF11:NM_001385480:exon11:c.A959G:p.N320S,NBPF11:NM_001101663:exon12:c.A1184G:p.N395S,NBPF11:NM_001385469:exon12:c.A1184G:p.N395S,NBPF11:NM_001385475:exon12:c.A1184G:p.N395S,NBPF11:NM_001385479:exon12:c.A959G:p.N320S,NBPF11:NM_183372:exon12:c.A1184G:p.N395S,NBPF11:NM_001385471:exon13:c.A1184G:p.N395S,NBPF11:NM_001385474:exon13:c.A1184G:p.N395S,NBPF11:NM_001385478:exon13:c.A959G:p.N320S,NBPF11:NM_001385472:exon14:c.A1184G:p.N395S,NBPF11:NM_001385473:exon14:c.A1184G:p.N395S,NBPF11:NM_001385476:exon14:c.A1184G:p.N395S	.	736	780	6	0	0	6	0.00383142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000516502707967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355498339	8.823e-06	0.0001	4.669e-06	1.254e-05	0.0002	2.06e-06	1.39e-06	2.88e-05	1.201e-05	0.0002	0	0	3.212e-05	0	0	3.691e-06	0	0	0.0004	0.0015	0.0005	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0	0	0.0002	0	0	5.109e-05	0.0006	0	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.62	0.41497	L	.	.	.	.	.	.	0.069	0.04426	-0.9845	0.33951	T	0.007	0.02558	T	8	0.08626592	0.14647	T	0.001028	0.01144	T	.	.	.	.	0.438701194649	0.43488	0.009462545994910832	0.00909	.	.	.	.	.	0.192754	0.54800	T	-0.22476	0.17349	T	-0.560628	0.16319	T	0.138356238589353	0.16132	T	0.414459	0.10821	T	0.059404626	0.12068	0.08127603	0.18457	0.059404626	0.12068	0.08127603	0.18457	-8.742	0.66021	D	.	.	0.103	0.29806	B	.;.;.;.	.;.;.;.	-0.086864	0.03718	0.764	0.19961925675828007	0.00697	0.00063	0.00458	N	AEFI	0.026487	0.01998	N	-1.02295796950048	0.08129	0.3800761	-1.33272578966305	0.04014	0.1884419	3.60146663870197E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	-0.237	0.12417	-4.286000	0.00296	-20.000000	0.00162	-1.968000	0.00471	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	48.61	23	chr1	148117694	.	T	C	48.61	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.51;DP=158;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1293;MLEAC=2;MLEAF=0.1;MQ=25.26;MQRankSum=-1.753;QD=1.52;ReadPosRankSum=-0.748;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,2:17:39:0|1:148117692_C_G:39,0,624:148117692	8	0	2	0
chr1	148559817	148559817	C	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.G4198T:p.V1400F	.	470	1048	4	0	0	4	0.00190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00178027364514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404207004	0.0008	0.0009	0.0008	0.0009	0.0030	0.0008	0.0008	0.0026	0.0025	0.0001	0.0001	0	2.788e-05	1.899e-05	0.0005	0.0008	0.0010	0.0030	0.0004	0.0004	0.0005	0.0003	0.0014	0.0003	0.0003	0.0006	0.0004	6.869e-05	0	7.128e-05	0	0	0	0	0.0006	0.0015	0.0014	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.30347	.	.	.	.	.	.	.	0.09931323	0.18014	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753225	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.66871	A	.;.	.;.	0.769988	0.11396	8.011	.	.	.	.	.	.	0.024096	0.01439	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749000	0.25985	-2.486000	0.03695	0.146000	0.17681	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	996.43	35	chr1	148559817	.	C	A	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.966;DP=381;ExcessHet=0;FS=2.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.9;MQRankSum=0.662;QD=14.44;ReadPosRankSum=-1.363;SOR=1.055	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1008,0,601	9	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:326,67:393:99:689,0,8621	3	0	7	0
chr1	152109147	152109147	T	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.A4070G:p.E1357G	.	414	1090	18	0	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00199687680997	0.0014	0.000599042	0.0015	0.0004	0.0027	0	0	0.0016	0.0089	0.0016	0.0012936	200	154602	rs187205661	0.0010	0.0010	0.0009	0.0011	0.0120	0.0009	0.0009	0.0097	0.0089	0.0002	0.0025	0.0052	0	0.0001	0.0120	0.0008	0.0020	0.0014	0.0011	0.0011	0.0011	0.0010	0.0031	0.0009	0.0009	0.0024	0.0021	0.0001	0	0.0031	0.0063	0	9.407e-05	0.0136	0.0011	0.0028	0.0010	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.886	0.62898	P	.	.	.	.	1	0.08975	N	2.605	0.76211	M	3.02	0.08986	T	-2.09	0.47683	N	0.17	0.18376	-1.0393	0.17526	T	0.020	0.08266	T	9	0.006308019	0.00142	T	0.001997	0.03615	T	0.070	0.20419	.	.	0.540153309661	0.53666	0.029142579865045516	0.02863	0.310527836263	0.33367	0.276593744755	0.07023	T	0.003272	0.02677	T	-0.522414	0.00426	T	-0.517497	0.20548	T	0.0236382078003124	0.01101	T	0.381062	0.09207	T	0.05759065	0.11479	0.115004845	0.27761	0.07775522	0.17667	0.08821971	0.20556	-8.197	0.62405	D	.	.	0.368	0.58715	A	.;.	.;.	2.059286	0.26183	17.03	0.94218210039858263	0.24465	0.13547	0.17918	N	AEFDBCI	0.108189	0.21531	N	-0.261898997275469	0.30631	1.709767	-0.492664172177704	0.22355	1.213806	0.999993752611818	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.08	1.62	0.22817	0.304000	0.18983	.	.	-0.160000	0.11618	0.000000	0.06391	.	.	0.351000	0.25682	0.1863:0.2139:0.0:0.5998	2.865	0.05254	478	0.77585	.;.	.	.	.	.	.	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	0.013595	0.010101	0.020380	0.014620	0.150000	0.000000	0.006098	0.007576	0.05	1831.43	174	chr1	152109147	.	T	C	1831.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.097;DP=1622;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.099;SOR=0.702	GT:AD:DP:GQ:PL	0/1:117,77:194:99:1843,0,3241	9	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	550.24	308	chr1	152214827	.	A	*	550.24	.	AC=6;AF=0.3;AN=20;BaseQRankSum=4.01;DP=1774;ExcessHet=10.3881;FS=42.431;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.67;MQRankSum=2.78;QD=0.34;ReadPosRankSum=-3.783;SOR=9.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,23:211:99:0|1:152214821_T_A:373,0,7779:152214821	4	0	6	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	470.2	308	chr1	152214830	.	C	*	470.2	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.142;DP=1764;ExcessHet=10.3881;FS=42.67;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.6;MQRankSum=2.83;QD=0.3;ReadPosRankSum=-4.464;SOR=9.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,23:211:99:0|1:152214821_T_A:373,0,7779:152214821	4	0	6	0
chr1	152218546	152218546	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3083A:p.R1028K	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00205941874828	0.0005	0.000399361	0.0006	9.61e-05	0.0005	0.0002	0	0.0003	0.0011	0.0027	0.0004916	76	154602	rs139825906	0.0005	0.0005	0.0004	0.0006	0.0033	0.0005	0.0005	0.0029	0.0028	2.987e-05	0.0006	0.0011	0	1.872e-05	0.0016	0.0004	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.23e-05	0	0.0003	0.0012	0	0	0	0.0003	0.0005	0.0023	1.0	0.00964	T	0.997	0.02325	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.51	0.02015	T	-0.49	0.15578	N	0.1	0.08227	-0.9403	0.42568	T	0.001	0.00438	T	9	0.009475589	0.00214	T	0.002059	0.03775	T	0.012	0.01476	.	.	0.301455362545	0.29754	0.0052821143759877445	0.00499	.	.	0.539631009102	0.44393	T	0.016013	0.13319	T	-0.680243	0.00048	T	-0.753577	0.03349	T	0.00397605125544285	0.00042	T	0.180382	0.01798	T	0.064437516	0.13672	0.05156177	0.08322	0.064437516	0.13671	0.05156177	0.08321	-6.278	0.48548	T	.	.	0.145	0.31882	B	.	.	0.113539	0.05123	1.652	0.5233946700520915	0.04729	0.00637	0.02791	N	AEFBI	0.032491	0.03683	N	-1.50900998435382	0.01790	0.07843129	-1.54717309693685	0.01995	0.09115902	1.30687003692073E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-0.934	0.09897	-0.294000	0.08346	.	.	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.506:0.0:0.494	6.410	0.20889	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001587	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.1	8704.14	304	chr1	152218546	.	C	T	8704.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.04;DP=2320;ExcessHet=0.2348;FS=2.415;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.15;MQRankSum=-0.556;QD=12.38;ReadPosRankSum=-0.911;SOR=0.757	GT:AD:DP:GQ:PL	0/1:200,161:361:99:3906,0,5470	8	0	2	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	279.43	421	chr1	152219783	.	T	C	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=7.18;DP=3923;ExcessHet=0;FS=15.346;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=52.08;MQRankSum=-8.126;QD=0.62;ReadPosRankSum=-7.32;SOR=2.49	GT:AD:DP:GQ:PL	0/1:401,47:448:99:291,0,10948	9	0	1	0
chr1	152303212	152303212	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11674T:p.R3892W	Ichthyosis vulgaris, Autosomal dominant	0	1465	57	0	0	57	0.0190827	.	.	.	1195846	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.00554769908557	0.0016	0.00159744	0.0027	0.0005	0.0010	0.0002	0.0054	0.0021	0.0044	0.0076	0.0023415	362	154602	rs141128022	0.0021	0.0021	0.0018	0.0024	0.0089	0.0020	0.0020	0.0084	0.0082	0.0003	0.0016	0.0083	2.519e-05	0.0048	0.0062	0.0014	0.0029	0.0089	0.0018	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0004	0	0.0018	0.0081	0	0.0061	0.0068	0.0016	0.0019	0.0060	0.107	0.29554	T	.	.	.	0.964	0.55854	D	0.183	0.35961	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.66	0.01756	T	-0.69	0.19720	N	0.142	0.14196	-0.8597	0.51284	T	0.002	0.00526	T	9	0.0057953596	0.00129	T	0.005548	0.14319	T	0.082	0.23913	.	.	0.328222422547	0.32431	0.015331430378345676	0.01489	.	.	0.205580681562	0.00637	T	0.027624	0.20190	T	-0.616504	0.00115	T	-0.652933	0.08750	T	0.0155825827814693	0.00355	T	0.49745	0.15470	T	0.04290102	0.06590	0.030120097	0.01429	0.04290102	0.06589	0.030120097	0.01428	-6.245	0.48285	T	.	.	0.160	0.35456	B	.	.	2.053606	0.26105	17.00	0.98448850519908393	0.41598	0.06603	0.12618	N	AEFBI	0.077473	0.15610	N	-0.566929061247806	0.19955	1.048469	-0.755836527502834	0.15580	0.8200499	1.46969122758361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.17	1.13	0.19758	1.153000	0.31287	.	.	0.613000	0.49114	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.676:0.324	5.602	0.16640	557	0.71576	.	.	.	.	.	.	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	0.005539	0.000000	0.001359	0.000000	0.050000	0.017241	0.009146	0.011364	0.1	7164.14	33	chr1	152303212	.	G	A	7164.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.11;DP=832;ExcessHet=0.2348;FS=2.46;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.728;SOR=0.547	GT:AD:DP:GQ:PL	0/1:132,149:281:99:3851,0,3252	8	0	2	0
chr1	152312082	152312082	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2804C:p.G935A	Ichthyosis vulgaris, Autosomal dominant	0	1491	31	0	0	31	0.0102887	.	.	.	1195865	FLG-related_disorder|Ichthyosis_vulgaris|not_provided	.|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.000885805589783	0.0026	0.000599042	0.0028	0.0003	0.0020	0	0	0.0042	0.0099	0.0015	0.0024967	386	154602	rs150503113	0.0019	0.0019	0.0018	0.0020	0.0222	0.0019	0.0018	0.0191	0.0179	0.0005	0.0030	0.0278	0	0.0001	0.0222	0.0013	0.0043	0.0013	0.0024	0.0024	0.0025	0.0022	0.0048	0.0022	0.0021	0.0040	0.0036	0.0003	0.0022	0.0048	0.0355	0	9.425e-05	0.0238	0.0019	0.0052	0.0008	0.018	0.50676	D	.	.	.	0.204	0.29802	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	2.735	0.79925	M	4.76	0.01576	T	-1.68	0.40082	N	0.096	0.07673	-0.9383	0.42885	T	0.002	0.00769	T	9	0.005888641	0.00132	T	8.86E-4	0.00800	T	0.026	0.05648	.	.	0.117506650769	0.11410	0.013417229045876907	0.01299	.	.	0.255646705627	0.04385	T	0.02681	0.19761	T	-0.682628	0.00046	T	-0.757315	0.03210	T	0.00847852903289858	0.00103	T	0.534247	0.17838	T	0.077396624	0.17565	0.060455702	0.11514	0.077396624	0.17564	0.060455702	0.11514	-8.24	0.62694	D	.	.	0.145	0.31857	B	.	.	-0.570785	0.01653	0.116	0.58113512807442025	0.05920	0.01243	0.04382	N	AEFBI	0.032672	0.03735	N	-1.15039363912109	0.05773	0.2640714	-1.32093414333687	0.04160	0.1956355	2.03026426021431E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.81	-1.91	0.07225	-1.041000	0.03653	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3637:0.2118:0.4245	3.331	0.06669	591	0.68823	.	.	.	.	.	.	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	0.019979	0.030303	0.029891	0.019531	0.100000	0.008621	0.003049	0.007576	0.05	4250.43	605	chr1	152312082	.	C	G	4250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.618;DP=2780;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.79;MQRankSum=-1.753;QD=10.44;ReadPosRankSum=0.411;SOR=0.601	GT:AD:DP:GQ:PL	0/1:225,182:407:99:4262,0,5984	9	0	1	0
chr1	155046213	155046213	G	A	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon11:c.G1286A:p.S429N,DCST1:NM_152494:exon12:c.G1361A:p.S454N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0115913642887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.10412	T	0.104	0.38450	T	0.143	0.27649	B	0.073	0.28123	B	0.513199	0.05159	N	1.277740	1	0.08975	N	1.01	0.25309	L	1.5	0.31205	T	-0.19	0.10656	N	0.167	0.25130	-1.0556	0.12882	T	0.014	0.05753	T	10	0.08011672	0.12967	T	0.011591	0.29367	T	0.132	0.35948	0.512	0.61000	0.200317383148	0.19677	0.1601382507200254	0.15934	0.148039461621	0.16696	0.323413908482	0.13937	T	0.020553	0.16160	T	-0.36789	0.03702	T	-0.766225	0.02894	T	0.0726329264405066	0.09016	T	0.692231	0.30167	T	0.07355871	0.16444	0.089634866	0.20972	0.07355871	0.16444	0.089634866	0.20971	-5.113	0.39834	T	.	.	0.081	0.10449	B	.;.;.	.;.;.	0.771647	0.11419	8.026	0.91266661991914577	0.20525	0.02446	0.06886	N	AEFBCI	0.054892	0.10020	N	-1.14571836436136	0.05850	0.2677981	-1.22776051707085	0.05468	0.2606267	0.999946708204025	0.47345	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.567339	0.31927	0	.	.	5.12	-6.18	0.01906	0.104000	0.15148	0.040000	0.13855	0.676000	0.76740	0.004000	0.16614	0.000000	0.08366	0.859000	0.40722	0.6865:0.107:0.2065:0.0	10.643	0.44796	225	0.91282	Dendritic cell-specific transmembrane protein-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	.	.	.	.	.	.	.	.	0.1	78.14	33	chr1	155046213	.	G	A	78.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.844;DP=677;ExcessHet=0.2348;FS=397.328;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=1.77;SOR=9.364	GT:AD:DP:GQ:PL	0/1:133,55:188:64:64,0,2697	8	0	2	0
chr1	155188337	155188337	G	C	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001204285:exon4:c.C714G:p.H238Q,MUC1:NM_001204286:exon4:c.C741G:p.H247Q,MUC1:NM_001371720:exon7:c.C2979G:p.H993Q	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3416359	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00558521420723	0.0033	0.00159744	0.0026	0.0005	0.0005	0.0003	0.0039	0.0040	0.0023	0.0002	0.0026778	414	154602	rs149945265	0.0051	0.0051	0.0053	0.0049	0.0061	0.0050	0.0049	0.0060	0.0060	0.0009	0.0010	0.0004	2.519e-05	0.0053	0.0005	0.0061	0.0036	0.0002	0.0030	0.0030	0.0032	0.0028	0.0049	0.0028	0.0027	0.0045	0.0043	0.0009	0	0.0016	0	0	0.0048	0.0034	0.0049	0.0019	0.0004	.	.	.	0.56	0.16815	T	.	.	.	.	.	.	0.348778	0.04232	N	1.557480	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.039	0.02861	-0.9847	0.33903	T	0.006	0.02018	T	10	0.003774166	0.00070	T	0.005585	0.14409	T	.	.	0.269	0.21735	0.043077524339	0.03247	0.08347510842830551	0.08281	.	.	0.198374986649	0.00411	T	0.020083	0.15875	T	-0.655426	0.00067	T	-0.710943	0.05247	T	0.000297326507279649	0.00002	T	0.167583	0.02478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.27553	B	.;.;.;.	.;.;.;.	0.079522	0.04858	1.452	0.55443430729333887	0.05343	0.07246	0.13270	N	AEFDBHCI	0.142215	0.26460	N	-1.43282515163466	0.02355	0.1039108	-1.43121926826409	0.02944	0.1364274	0.999966918042273	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	2.92	0.97	0.18811	-0.082000	0.11268	0.228000	0.16155	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1279:0.2082:0.6639:0.0	5.649	0.16878	71	0.96981	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1515.43	38	chr1	155188337	.	G	C	1515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.472;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=2.57;SOR=0.66	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1527,0,1739	9	0	1	0
chr1	156955795	156955795	C	T	exonic	ARHGEF11	.	nonsynonymous SNV	ARHGEF11:NM_014784:exon19:c.G1556A:p.S519N,ARHGEF11:NM_001377418:exon20:c.G1667A:p.S556N,ARHGEF11:NM_001377419:exon20:c.G1676A:p.S559N,ARHGEF11:NM_198236:exon20:c.G1676A:p.S559N	.	.	.	.	.	.	.	.	.	.	.	3900797	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0188369550673	.	0.000199681	9.061e-05	0	0	0	0	1.499e-05	0	0.0006	7.76e-05	12	154602	rs550151475	3.079e-05	3.078e-05	1.634e-05	4.539e-05	0.0005	2.348e-05	2.096e-05	0.0004	0.0003	0	0	7.653e-05	0	0	0.0002	0	0	0.0005	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.003	0.72154	D	0.44	0.13557	T	0.997	0.77913	D	0.962	0.81110	D	0.000008	0.62929	D	0.000000	0.999884	0.50402	D	0.895	0.22405	L	-0.34	0.68474	T	-0.57	0.17210	N	0.321	0.41754	-0.5964	0.64963	T	0.268	0.63950	T	10	0.123061955	0.23355	T	0.018837	0.41032	T	0.153	0.40148	.	.	0.68401747171	0.68132	0.3245054759554571	0.32363	1.12892997129	0.78538	0.59618729353	0.52366	T	0.062535	0.31943	T	-0.255054	0.13485	T	-0.254713	0.49350	T	0.229235264488341	0.21915	T	0.809419	0.45992	T	0.25164515	0.48174	0.26515263	0.52344	0.25164515	0.48174	0.26515263	0.52343	-6.695	0.59375	T	.	.	0.339	0.56696	B	.;.	.;.	4.715157	0.75784	26.4	0.9953964778501162	0.70398	0.99169	0.92246	D	AEFBI	0.710240	0.66407	D	0.544845695469903	0.69767	5.404189	0.572087954019005	0.72944	5.890715	0.999999956316099	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	6.051000	0.70697	4.831000	0.45200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.888	0.88779	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1271.43	35	chr1	156955795	.	C	T	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.446;DP=431;ExcessHet=0;FS=3.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.347;SOR=0.59	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1283,0,889	9	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:158,46:209:99:215,0,3355	0	0	9	1
chr1	162020049	162020049	T	C	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon2:c.A308G:p.Y103C,OLFML2B:NM_001347700:exon2:c.A308G:p.Y103C,OLFML2B:NM_015441:exon2:c.A308G:p.Y103C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0285225835061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.687	0.41560	P	0.132	0.33005	B	.	.	.	.	0.999905	0.50806	D	2.405	0.69568	M	0.8	0.48769	T	-7.15	0.94096	D	0.973	0.99410	-1.0174	0.24560	T	0.050	0.21456	T	8	0.7827445	0.77990	D	0.028523	0.51190	D	0.401	0.71479	0.577	0.70217	0.638482112605	0.63550	0.6137621301124242	0.61308	0.340805444032	0.36020	0.814751267433	0.84221	D	0.118333	0.57320	T	0.169347	0.71064	D	0.00547873	0.70691	D	0.985923409461975	0.76779	D	0.855114	0.55187	D	0.6218771	0.73863	0.4773016	0.69718	0.6218771	0.73865	0.4773016	0.69718	-10.914	0.79184	D	.	.	0.925	0.84615	P	.;.	.;.	4.154990	0.62356	24.4	0.9926962855831305	0.57491	0.97862	0.77688	D	AEFGBI	0.947392	0.95790	D	0.194695244671116	0.50944	3.279771	0.296950081840937	0.55361	3.699216	0.999999999751977	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.5	4.5	0.54382	7.471000	0.79986	7.681000	0.65292	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:0.0:1.0	12.092	0.53033	917	0.20147	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1936.43	34	chr1	162020049	.	T	C	1936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=512;ExcessHet=0;FS=5.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.077;SOR=0.431	GT:AD:DP:GQ:PL	0/1:113,81:194:99:1948,0,2738	9	0	1	0
chr1	168542093	168542093	C	T	exonic	XCL2	.	nonsynonymous SNV	XCL2:NM_003175:exon2:c.G76A:p.V26I	.	437	1082	3	0	0	3	0.0013844	.	.	.	2376021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00194226879609	0.0003	.	0.0005	0	0	0	0	0.0009	0	0.0001	0.0003946	61	154602	rs142896007	0.0003	0.0003	0.0003	0.0004	0.0051	0.0003	0.0003	0.0036	0.0031	0.0002	0.0001	0.0086	0	0	0.0051	0.0001	0.0008	7.831e-05	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.449e-05	0	6.992e-05	0.0062	0	0	0.0035	0.0002	0.0010	0	0.034	0.44029	D	0.237	0.24621	T	0.316	0.32901	B	0.23	0.38212	B	0.114827	0.19259	N	0.476626	0.988584	0.24394	N	1.81	0.47622	L	3.77	0.03863	T	-0.37	0.13226	N	0.12	0.11054	-0.9637	0.38468	T	0.007	0.02439	T	9	0.006197512	0.00140	T	0.001942	0.03456	T	0.043	0.11576	.	.	0.148003135375	0.14442	0.08753379033153848	0.08686	0.214460058874	0.23979	0.32406270504	0.14036	T	0.008102	0.07453	T	-0.52326	0.00421	T	-0.683426	0.06776	T	0.0215918489946553	0.00864	T	0.451355	0.12777	T	0.044460643	0.07110	0.055122208	0.09611	0.044460643	0.07109	0.055122208	0.09610	-3.741	0.19925	T	.	.	0.090	0.12750	B	.	.	1.473837	0.18984	14.03	0.97501545238824583	0.34299	0.32913	0.24701	N	AEFDI	0.060656	0.11544	N	-0.438999129448045	0.24114	1.299806	-0.461996373386755	0.23209	1.264518	0.107184685770947	0.16549	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.49	2.49	0.29274	0.190000	0.16864	1.660000	0.27894	0.306000	0.19039	0.824000	0.30046	0.999000	0.35428	0.030000	0.13115	0.0:1.0:0.0:0.0	8.475	0.32171	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003080	0.000000	0.002747	0.014970	0.000000	0.008621	0.000000	0.000000	0.05	454.43	33	chr1	168542093	.	C	T	454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.303;DP=370;ExcessHet=0;FS=4.131;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=0.019;SOR=0.283	GT:AD:DP:GQ:PL	0/1:30,21:51:99:466,0,800	9	0	1	0
chr1	169529782	169529782	G	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.C5245G:p.L1749V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	1496	25	0	0	25	0.00828638	.	.	.	718365	Budd-Chiari_syndrome|Thrombophilia_due_to_thrombin_defect|Congenital_factor_V_deficiency|F5-related_disorder|Thrombocytopenia|Abnormal_bleeding|not_provided|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency	Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|.|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MedGen:C3661900|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.531	0.127375911755	0.0012	0.00239617	0.0024	9.617e-05	0.0016	0	0.0014	0.0020	0.0044	0.0081	0.0023027	356	154602	rs6034	0.0021	0.0021	0.0018	0.0024	0.0086	0.0020	0.0020	0.0081	0.0079	0.0002	0.0020	0.0057	0	0.0012	0.0052	0.0016	0.0022	0.0086	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0014	0.0059	0.0052	0.0003	0	0.0010	0.0072	0	0.0016	0	0.0020	0.0043	0.0079	0.092	0.31682	T	0.067	0.44302	T	0.941	0.52883	P	0.776	0.57120	P	0.000277	0.46590	N	0.149614	0.997303	0.43782	D	1.19	0.30124	L	-5.61	0.99229	D	-2.29	0.50992	N	0.131	0.12627	0.792	0.94311	D	0.884	0.96142	D	9	0.008653462	0.00196	T	0.127376	0.80917	D	0.531	0.80247	.	.	0.859021010035	0.85765	0.8314894973966273	0.83107	0.273368654784	0.29839	0.376278698444	0.21728	T	0.320223	0.69143	T	-0.238413	0.15552	T	-0.110253	0.62591	T	0.060801956803737	0.07294	T	0.812719	0.47330	T	0.031336132	0.02956	0.07390459	0.16111	0.03905512	0.05320	0.072375126	0.15606	-6.843	0.52878	T	0.4754015278761274	0.55507	0.167	0.36752	B	.;.	.;.	2.063315	0.26232	17.05	0.99571968508615394	0.72440	0.42667	0.26929	N	AEFBCI	0.561513	0.56948	D	-0.214073832332537	0.32555	1.837265	-0.244272608897794	0.29969	1.683406	0.999966962505441	0.48965	0.487112	0.14033	0	0.547309	0.14657	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	5.5	1.34	0.21018	0.796000	0.26646	1.029000	0.23465	-0.154000	0.11915	0.501000	0.26963	0.489000	0.25143	0.548000	0.30127	0.1266:0.2455:0.5015:0.1264	3.938	0.08814	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1014.43	41	chr1	169529782	.	G	C	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.352;DP=456;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.709;SOR=0.943	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1026,0,1324	9	0	1	0
chr1	169530940	169530940	G	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon15:c.C5054G:p.T1685S	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1493	29	0	0	29	0.00961857	.	.	.	277248	F5-related_disorder|Factor_V_deficiency|not_provided|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Abnormal_bleeding|Thrombocytopenia|Thrombophilia_due_to_thrombin_defect|Congenital_factor_V_deficiency	.|Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	0.0315810544892	0.0012	0.00239617	0.0024	9.63e-05	0.0016	0	0.0014	0.0020	0.0044	0.0081	0.0022962	355	154602	rs6011	0.0021	0.0021	0.0018	0.0024	0.0086	0.0020	0.0020	0.0081	0.0079	0.0002	0.0020	0.0057	0	0.0012	0.0052	0.0016	0.0022	0.0086	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0014	0.0059	0.0052	0.0003	0	0.0010	0.0072	0	0.0016	0	0.0020	0.0043	0.0079	0.913	0.02519	T	1.0	0.01155	T	0.067	0.23653	B	0.048	0.24975	B	0.176198	0.17231	N	0.615129	1	0.08975	N	-1.255	0.00759	N	-5.06	0.98629	D	-0.47	0.15178	N	0.103	0.08646	-0.3330	0.74046	T	0.515	0.81845	D	9	0.005989909	0.00134	T	0.031581	0.53626	D	0.224	0.52174	0.299	0.26522	0.569173210356	0.56582	0.7090553199805895	0.70847	0.0834121381475	0.09409	0.343705445528	0.16991	T	0.302042	0.67446	T	-0.374601	0.03367	T	-0.305878	0.44100	T	0.0122122248052273	0.00196	T	0.559044	0.19511	T	0.043750837	0.06875	0.106728494	0.25681	0.05523722	0.10706	0.11016216	0.26559	-3.049	0.10719	T	.	.	0.112	0.22098	B	.;.	.;.	0.563073	0.09319	6.097	0.40620142436926765	0.02878	0.15814	0.19094	N	AEFBI	0.188650	0.31592	N	-0.7881186899421	0.13619	0.6722284	-0.615650689673163	0.19091	1.02277	0.873743343668249	0.25472	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.35	2.24	0.27264	0.431000	0.21163	1.047000	0.23605	0.676000	0.76740	0.133000	0.23395	0.617000	0.25797	0.964000	0.52637	0.0907:0.4013:0.2701:0.2378	3.198	0.06246	772	0.48957	Multicopper oxidase, type 3;Multicopper oxidase, type 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1095.43	34	chr1	169530940	.	G	C	1095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.389;SOR=0.678	GT:AD:DP:GQ:PL	0/1:55,41:96:99:1107,0,1319	9	0	1	0
chr1	170998254	170998254	G	A	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon15:c.G1576A:p.V526I,MROH9:NM_025063:exon15:c.G1576A:p.V526I	.	437	996	79	10	0	99	0.0473458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0069	0.0103834	0.0113	0.0052	0.0071	0.0003	0.0145	0.0092	0.01	0.0312	0.0104268	1612	154602	rs151291051	0.0082	0.0082	0.0075	0.0089	0.0304	0.0081	0.0080	0.0294	0.0290	0.0051	0.0074	0.0143	2.521e-05	0.0129	0.0250	0.0063	0.0101	0.0304	0.0081	0.0082	0.0075	0.0089	0.0313	0.0078	0.0076	0.0273	0.0257	0.0042	0.0077	0.0098	0.0156	0.0006	0.0154	0.0374	0.0074	0.0104	0.0313	0.735	0.03753	T	0.813	0.05165	T	0.226	0.30455	B	0.02	0.19048	B	0.812073	0.09243	N	0.906517	0.999997	0.08975	N	0.09	0.08384	N	-0.2	0.66113	T	-0.26	0.11185	N	0.105	0.08925	-1.0196	0.23845	T	0.031	0.13286	T	10	0.0030203462	0.00049	T	.	.	.	0.057	0.16321	.	.	.	.	0.19145774194199625	0.19063	0.0480783259734	0.05242	0.432100772858	0.29495	T	0.006903	0.06325	T	-0.513668	0.00478	T	-0.487627	0.23639	T	0.0017889166806405	0.00018	T	0.475952	0.14261	T	0.024690988	0.01327	0.026309256	0.00713	0.024690988	0.01327	0.026309256	0.00713	-3.166	0.12070	T	.	.	0.092	0.13644	B	.;.	.;.	0.588054	0.09566	6.340	0.53438278281536755	0.04940	0.00054	0.00410	N	AEFBI	0.014009	0.00207	N	-1.1659067628566	0.05523	0.2520136	-1.09123380210306	0.07872	0.38468	1.92528234130716E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.9	0.44240	1.463000	0.34887	2.664000	0.33900	-1.060000	0.01619	0.008000	0.17931	0.186000	0.23459	0.000000	0.00833	0.8949:0.0:0.1051:0.0	7.275	0.25451	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.035354	0.014946	0.008772	0.150000	0.017241	0.024390	0.030303	0.1	2467.14	35	chr1	170998254	.	G	A	2467.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.23;DP=504;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.09;SOR=0.668	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1258,0,1183	8	0	2	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	275.73	33	chr1	179903964	.	A	C	275.73	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.052;DP=433;ExcessHet=0.2348;FS=128.957;InbreedingCoeff=-0.177;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=2.84;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,20:60:56:0|1:179903957_A_C:56,0,871:179903957	6	0	2	2
chr1	183563229	183563229	T	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon11:c.A1013T:p.N338I,NCF2:NM_001190794:exon12:c.A1121T:p.N374I,NCF2:NM_000433:exon13:c.A1256T:p.N419I,NCF2:NM_001127651:exon14:c.A1256T:p.N419I	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	265448	Developmental_and_epileptic_encephalopathy,_28|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_specified|not_provided	MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.280	.	0.0065	0.00419329	0.0054	0.0012	0.0041	0.0001	0.0015	0.0059	0.0055	0.0110	0.0055562	859	154602	rs35012521	0.0082	0.0082	0.0082	0.0082	0.0106	0.0081	0.0080	0.0101	0.0098	0.0010	0.0045	0.0057	2.519e-05	0.0016	0.0094	0.0090	0.0095	0.0106	0.0054	0.0054	0.0057	0.0050	0.0097	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0045	0.0061	0	0.0010	0.0136	0.0085	0.0076	0.0097	0.003	0.68238	D	0.003	0.76473	D	0.987	0.61912	D	0.942	0.67772	D	0.000092	0.51296	D	0.203036	0.521606	0.31901	D	2.725	0.79712	M	0.78	0.49358	T	-4.32	0.78636	D	0.463	0.50418	-0.7436	0.58267	T	0.198	0.55329	T	10	0.0100801885	0.00226	T	.	.	.	0.280	0.59740	.	.	0.696356426285	0.69374	0.4952431128784428	0.49445	0.798378576579	0.66127	0.477975904942	0.35778	T	0.244942	0.61416	T	-0.410573	0.01970	T	-0.351505	0.39032	T	0.0335921999053578	0.02569	T	0.89911	0.65732	D	0.8869816	0.90250	0.73654705	0.84429	0.92818314	0.94056	0.76936954	0.86382	-8.453	0.69701	D	0.5583680511695567	0.62632	0.516	0.65319	A	.;.;.;.	.;.;.;.	4.079810	0.60676	24.2	0.99299000505735635	0.58541	0.86709	0.46048	D	AEFDBCI	0.325078	0.42677	N	0.489766814090699	0.66488	4.956959	0.450411146364601	0.64743	4.736657	0.999910455796851	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	5.58	4.46	0.53567	2.628000	0.46143	3.388000	0.38048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0765:0.0:0.9235	9.980	0.40982	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain	NCF2	Artery_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	5447.43	33	chr1	183563229	.	T	A	5447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.549;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.196;SOR=0.701	GT:AD:DP:GQ:PL	0/1:255,232:487:99:5459,0,6283	9	0	1	0
chr1	184037164	184037164	G	A	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon1:c.C194T:p.A65V,COLGALT2:NM_015101:exon1:c.C194T:p.A65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.875021753849	.	.	2.138e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs747085306	6.89e-06	1.368e-05	4.114e-06	9.695e-06	0.0001	3.48e-06	2.54e-06	6.302e-05	4.798e-05	0	0	0	0	0	0	0	0	0.0001	6.58e-06	6.567e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.032	0.53426	D	0.953	0.54283	P	0.542	0.48916	P	0.000224	0.47286	D	0.138037	1	0.81001	D	3.15	0.88382	M	0.05	0.61923	T	-2.53	0.54864	D	0.375	0.41656	-0.2396	0.76636	T	0.314	0.68389	T	10	0.48325858	0.60557	T	0.875022	0.99046	D	0.280	0.59740	0.425	0.47021	0.782224416147	0.78021	0.7397868706571837	0.73923	0.414142546602	0.42099	0.741655290127	0.73216	T	0.184993	0.53782	T	0.0221782	0.54675	T	-0.205919	0.54084	T	0.899581372737885	0.55192	D	0.834817	0.50404	T	0.26138696	0.49197	0.41270348	0.65466	0.26138696	0.49197	0.41270348	0.65466	-10.761	0.78331	D	.	.	0.457	0.63124	A	.;.	.;.	4.308849	0.65846	24.9	0.99913407229999884	0.98238	0.87465	0.47013	D	ALL	0.650029	0.62428	D	0.357692370109787	0.59147	4.091749	0.288195217931006	0.54848	3.648816	0.999999999999999	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.81	2.8	0.31881	2.509000	0.45120	9.266000	0.79598	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.356000	0.25796	0.0:0.1759:0.8241:0.0	11.989	0.52454	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1469.43	35	chr1	184037164	.	G	A	1469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=416;ExcessHet=0;FS=2.484;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.195;SOR=0.548	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1481,0,917	9	0	1	0
chr1	184037246	184037246	C	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon1:c.G112A:p.D38N,COLGALT2:NM_015101:exon1:c.G112A:p.D38N	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0027	0.00479233	0.0120	0.0014	0.0094	0	0.0453	0.0126	0.0099	0.0138	0.0052651	814	154602	rs150084895	0.0051	0.0052	0.0048	0.0054	0.0216	0.0050	0.0050	0.0183	0.0171	0.0007	0.0043	0.0024	2.619e-05	0.0248	0.0216	0.0041	0.0054	0.0112	0.0058	0.0059	0.0051	0.0066	0.0118	0.0055	0.0054	0.0093	0.0085	0.0007	0.0077	0.0035	0.0023	0	0.0232	0.0068	0.0070	0.0062	0.0118	0.165	0.23271	T	0.203	0.27325	T	0.355	0.33731	B	0.017	0.18140	B	0.128417	0.18732	U	0.382523	1	0.08975	N	0	0.06538	N	-1.09	0.77206	T	-0.17	0.09627	N	0.205	0.22742	-0.9687	0.37468	T	0.134	0.44739	T	10	0.0023701787	0.00035	T	.	.	.	0.159	0.41286	.	.	0.750438010542	0.74818	0.3154112362772674	0.31454	0.307476924182	0.33042	0.718976080418	0.69897	T	0.011471	0.10227	T	-0.506178	0.00528	T	-0.48819	0.23581	T	0.0196489811530059	0.00668	T	0.593441	0.21910	T	0.13396578	0.31141	0.07665079	0.16999	0.13396578	0.31141	0.07665079	0.16998	-6.201	0.47931	T	.	.	0.079	0.07507	B	.;.	.;.	2.040364	0.25936	16.94	0.99615728071122844	0.75112	0.27546	0.23308	N	ALL	0.167023	0.29366	N	-0.624906000972439	0.18199	0.9428884	-0.578540715158823	0.20054	1.078686	0.999999999999989	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	3.84	3.84	0.43422	0.629000	0.24229	3.634000	0.39325	0.499000	0.22661	0.113000	0.23048	0.813000	0.27056	0.926000	0.46234	0.0:1.0:0.0:0.0	11.624	0.50390	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022358	0.010526	0.016304	0.040936	0.150000	0.034483	0.012346	0.015267	0.05	893.43	35	chr1	184037246	.	C	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.207;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.33;SOR=0.716	GT:AD:DP:GQ:PL	0/1:58,43:101:99:905,0,1271	9	0	1	0
chr1	185206667	185206667	C	G	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon13:c.C1876G:p.Q626E,SWT1:NM_017673:exon13:c.C1876G:p.Q626E	.	441	1079	1	1	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	0.00279553	0.0023	0	8.721e-05	0.0001	0	0	0.0011	0.0164	0.0019146	296	154602	rs574089489	0.0009	0.0010	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	6.005e-05	4.557e-05	0	2.534e-05	0	0.0003	3.608e-06	0.0014	0.0149	0.0004	0.0004	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	0	0	0.0139	0.042	0.41637	D	0.022	0.57587	D	0.622	0.39964	P	0.183	0.35961	B	0.002602	0.36243	N	0.306169	0.682345	0.30267	N	2.205	0.62170	M	2.15	0.19311	T	-1.19	0.30346	N	0.214	0.24135	-1.0751	0.08328	T	0.044	0.18906	T	10	0.010387689	0.00231	T	.	.	.	0.060	0.17295	0.376	0.38994	0.381239546501	0.37731	0.322739464724848	0.32186	0.31532874122	0.33813	0.375013560057	0.21548	T	0.009948	0.09021	T	-0.536187	0.00353	T	-0.530648	0.19221	T	0.0279037426539749	0.01674	T	0.821518	0.48098	T	0.14677517	0.33583	0.1709339	0.39238	0.14677517	0.33583	0.1709339	0.39238	-8.655	0.65451	D	.	.	0.078	0.08224	B	.;.	.;.	2.732463	0.35768	19.98	0.98472776252036032	0.41873	0.81486	0.40880	D	AEFI	0.143060	0.26566	N	0.178793342352826	0.50180	3.210668	0.284518740532891	0.54636	3.627942	4.34003300652479E-5	0.03989	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.69	4.72	0.59248	2.048000	0.40903	4.832000	0.45208	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1508:0.7033:0.1459:0.0	10.214	0.42335	486	0.77016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.05	786.43	33	chr1	185206667	.	C	G	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.719;DP=397;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.688;SOR=0.817	GT:AD:DP:GQ:PL	0/1:46,38:84:99:798,0,1075	9	0	1	0
chr1	185231614	185231614	C	G	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon16:c.C2347G:p.L783V,SWT1:NM_017673:exon16:c.C2347G:p.L783V	.	.	.	.	.	.	.	.	.	.	.	2344987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00757637566244	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs573799309	2.605e-05	2.599e-05	9.554e-06	4.271e-05	0.0004	1.937e-05	1.696e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.319e-05	0.0004	1.971e-05	1.969e-05	1.285e-05	2.688e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.126	0.27194	T	0.307	0.19908	T	0.044	0.21686	B	0.036	0.22909	B	0.053689	0.22787	N	0.401453	1	0.08975	N	2.25	0.63811	M	0.82	0.48142	T	-0.37	0.13226	N	0.128	0.12198	-1.0159	0.25045	T	0.060	0.25273	T	10	0.01318413	0.00280	T	0.007576	0.20113	T	0.023	0.04649	0.19	0.10039	0.156986980423	0.15292	0.0940656811692093	0.09338	0.226712902874	0.25215	0.293456584215	0.09429	T	4.53E-4	0.00158	T	-0.488549	0.00662	T	-0.57538	0.14961	T	0.0526158662287077	0.05953	T	0.637136	0.25071	T	0.043404773	0.06758	0.037973415	0.03565	0.043404773	0.06758	0.037973415	0.03565	-3.48	0.16153	T	.	.	0.076	0.05979	B	.;.	.;.	0.855337	0.12277	8.818	0.9755835948397299	0.34610	0.09119	0.14938	N	AEFI	0.067866	0.13362	N	-0.985166158336329	0.08920	0.4201154	-0.946208655074757	0.11011	0.5583406	1.28994866405069E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.27	1.86	0.24489	0.644000	0.24455	0.078000	0.14353	0.549000	0.26987	0.000000	0.06391	0.006000	0.19429	0.905000	0.44082	0.3026:0.5122:0.0:0.1852	4.651	0.11979	499	0.76092	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	34	chr1	185231614	.	C	G	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.32;SOR=0.791	GT:AD:DP:GQ:PL	0/1:29,26:55:99:553,0,589	9	0	1	0
chr1	186361636	186361636	T	C	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon9:c.A944G:p.K315R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0129705457223	0.0002	0.000199681	0.0003	0	8.694e-05	0	0	0.0005	0	6.061e-05	0.0002717	42	154602	rs201760745	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0036	0.0031	0.0002	0.0003	0.0008	0	0	0.0050	0.0002	0.0004	6.958e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	7.218e-05	0	0.0002	0.0012	0	0	0.0136	0.0004	0.0009	0.0002	0.005	0.63226	D	0.103	0.38305	T	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.994283	0.42226	D	2.31	0.66127	M	1.84	0.24656	T	-1.36	0.33798	N	0.413	0.45331	-0.9619	0.38819	T	0.140	0.45997	T	10	0.08402017	0.14037	T	0.012971	0.31999	T	0.108	0.30607	.	.	0.347992687056	0.34409	0.21511907827271456	0.21427	0.390654298422	0.40278	0.565954089165	0.48107	T	0.014872	0.12581	T	-0.331435	0.06003	T	-0.39385	0.34102	T	0.0782571954790995	0.09762	T	0.939806	0.77272	D	0.27141312	0.50212	0.28266716	0.54256	0.27141312	0.50212	0.28266716	0.54255	-4.675	0.33100	T	.	.	0.097	0.15743	B	.;.	.;.	4.775611	0.77358	26.7	0.99909832737459359	0.97949	0.97568	0.75603	D	AEFDBI	0.719858	0.67061	D	0.628938096098364	0.75013	6.231351	0.634984745119435	0.77499	6.690743	0.999947803567212	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	7.616000	0.82218	7.823000	0.69822	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.773	0.69312	305	0.87738	.;.	.	.	.	.	.	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	0.004028	0.005051	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	1285.43	37	chr1	186361636	.	T	C	1285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.117;DP=474;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.39;SOR=0.502	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1297,0,1235	9	0	1	0
chr1	201209574	201209574	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4681A:p.V1561M	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0424514690007	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199560350	2.2e-06	5.826e-05	0	4.463e-06	8.755e-05	5.9e-07	1.6e-07	2.32e-05	1.243e-05	0	0	0	8.755e-05	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.058	0.37750	T	0.23	0.25135	T	.	.	.	.	.	.	.	.	.	.	1	0.31195	N	.	.	.	-2.34	0.87989	D	-0.18	0.09796	N	0.058	0.02964	-0.6413	0.63091	T	0.335	0.70190	T	6	0.09829211	0.17760	T	0.042451	0.60473	D	0.111	0.31313	.	.	0.418221603839	0.41440	0.4259469644963177	0.42511	.	.	0.345199108124	0.17212	T	.	.	.	-0.208911	0.19532	T	-0.537862	0.18506	T	0.0624787049460526	0.07554	T	0.334067	0.07092	T	.	.	.	.	.	.	.	.	-6.804	0.52589	T	.	.	0.148	0.32804	B	.	.	0.387019	0.07588	4.245	0.90860894993395269	0.20109	0.02096	0.06219	N	AEFBI	0.055340	0.10140	N	-0.931187694329861	0.10118	0.482022	-1.08983207664597	0.07899	0.3861357	4.72183203972467E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	0.207	0.14491	-0.178000	0.09775	-9.871000	0.00766	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2665:0.7335:0.0	7.689	0.27722	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012195	0.024390	0.028302	0.013393	0.000000	0.083333	0.006494	0.013514	0.0625	368.13	382	chr1	201209574	.	G	A	368.13	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.342;DP=3298;ExcessHet=0;FS=5.374;InbreedingCoeff=-0.1321;MLEAC=1;MLEAF=0.063;MQ=57.76;MQRankSum=-11.47;QD=1.2;ReadPosRankSum=-3.539;SOR=1.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,29:308:99:0|1:201209537_T_C:378,0,11628:201209537	7	0	1	2
chr1	201209577	201209577	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0190191815074	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266023800	0	5.088e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.341	0.12673	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.62	0.18248	N	0.062	0.03392	-0.8192	0.53984	T	0.308	0.67831	T	6	0.07540259	0.11648	T	0.019019	0.41266	T	0.175	0.44197	.	.	0.319970858106	0.31615	0.26554459910632044	0.26467	.	.	0.361872196198	0.19658	T	.	.	.	-0.213361	0.18908	T	-0.544255	0.17882	T	0.0424012125872128	0.04128	T	0.20408	0.02372	T	.	.	.	.	.	.	.	.	-5.531	0.42157	T	.	.	0.106	0.19800	B	.	.	-0.816030	0.01075	0.047	0.80079953806396409	0.13035	0.00057	0.00426	N	AEFBI	0.026151	0.01914	N	-1.29212876401835	0.03769	0.1689677	-1.44933870245113	0.02776	0.1282977	1.29537362201582E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-1.02	0.09618	-2.873000	0.00788	-3.768000	0.02550	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6681:0.0:0.3319:0.0	6.065	0.19081	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.047872	0.102410	0.055556	0.044248	0.100000	0.090909	0.049383	0.051282	0.07143	374.53	382	chr1	201209577	.	A	G	374.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=3322;ExcessHet=0;FS=5.434;InbreedingCoeff=-0.1431;MLEAC=1;MLEAF=0.071;MQ=57.73;MQRankSum=-11.31;QD=1.22;ReadPosRankSum=-2.943;SOR=1.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,29:306:99:0|1:201209537_T_C:384,0,11503:201209537	6	0	1	3
chr1	201209580	201209580	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4687G:p.K1563E	.	426	1084	7	0	5	12	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0728036774079	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200427142	7.922e-07	7.388e-05	0	1.612e-06	1.421e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.421e-05	9.045e-05	0.0007	0.0001	7.486e-05	0.0003	4.863e-05	3.723e-05	2.64e-05	1.539e-05	9.863e-05	0	9.399e-05	0.0004	0	0	0	7.891e-05	0	0.0003	0.935	0.02222	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.54	0.89496	D	-0.05	0.07736	N	0.022	0.00372	-0.7559	0.57625	T	0.359	0.72100	T	6	0.06936321	0.09942	T	0.072804	0.71626	D	0.162	0.41843	.	.	0.321951552304	0.31805	0.45121516021235264	0.45039	.	.	0.331884562969	0.15219	T	.	.	.	-0.231406	0.16463	T	-0.570175	0.15434	T	0.0442954428783114	0.04474	T	0.156884	0.01387	T	.	.	.	.	.	.	.	.	-4.14	0.25877	T	.	.	0.096	0.15251	B	.	.	-0.908112	0.00912	0.034	0.76296635407682756	0.11411	0.00009	0.00143	N	AEFBI	0.016961	0.00414	N	-1.20936234869678	0.04862	0.2203807	-1.36275170289685	0.03658	0.1710786	1.2352420795692E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-0.667	0.10823	-0.840000	0.04471	-20.000000	0.00162	-2.891000	0.00164	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4022:0.0:0.5978:0.0	6.886	0.23383	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083770	0.142857	0.107143	0.057522	0.100000	0.227273	0.085366	0.125000	0.07143	377.53	382	chr1	201209580	.	A	G	377.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=3403;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.1431;MLEAC=1;MLEAF=0.071;MQ=57.7;MQRankSum=-11.08;QD=1.24;ReadPosRankSum=-2.317;SOR=1.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,29:305:99:0|1:201209537_T_C:387,0,11441:201209537	6	0	1	3
chr1	201648788	201648788	A	C	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_020443:exon1:c.A120C:p.R40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.49958022594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.461	0.13066	T	.	.	.	.	.	.	0.546780	0.11478	N	0.787717	0.680322	0.30284	N	0.345	0.11182	N	3.2	0.07236	T	-0.29	0.11728	N	0.152	0.15609	-1.0132	0.25912	T	0.011	0.04042	T	10	0.08569273	0.14492	T	0.49958	0.95130	D	0.051	0.14325	0.285	0.24280	0.134007934775	0.12933	0.2055288334752255	0.20469	1.07880436334	0.77074	0.84635746479	0.89063	D	0.015252	0.12830	T	-0.343908	0.05122	T	-0.731776	0.04248	T	0.0755069110968361	0.09402	T	0.725927	0.34027	T	0.107654385	0.25456	0.07325308	0.15898	0.107654385	0.25456	0.07325308	0.15898	-3.633	0.18335	T	.	.	0.355	0.57424	A	.;.	.;.	2.031078	0.25816	16.90	0.98592222352923709	0.43388	0.09836	0.15501	N	ALL	0.106803	0.21299	N	-0.732150502882954	0.15123	0.7593724	-0.617220613768864	0.19051	1.020445	0.999999999976275	0.74766	0.666168	0.50170	0	0.005938	0.00030	3	0.606814	0.37721	0	0.372554	0.06265	0	.	.	4.38	2.08	0.26079	-0.387000	0.07419	0.623000	0.20150	0.656000	0.54149	0.023000	0.19925	0.519000	0.25298	0.985000	0.61073	0.4964:0.3322:0.1714:0.0	4.965	0.13434	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	749.43	34	chr1	201648788	.	A	C	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.743;SOR=0.548	GT:AD:DP:GQ:PL	0/1:34,27:61:99:761,0,1004	9	0	1	0
chr1	205059101	205059101	C	T	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon6:c.C505T:p.L169F,CNTN2:NM_005076:exon6:c.C505T:p.L169F	.	418	1101	3	0	0	3	0.00136054	.	.	.	439204	not_provided|Epilepsy,_familial_adult_myoclonic,_5|CNTN2-related_disorder	MedGen:C3661900|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00369706114344	0.0031	0.00259585	0.0027	0.0007	0.0018	0	0.0005	0.0041	0.0011	0.0010	0.0027749	429	154602	rs142502980	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0039	0.0039	0.0006	0.0023	0.0005	5.038e-05	0.0005	0.0019	0.0040	0.0021	0.0010	0.0022	0.0023	0.0024	0.0021	0.0041	0.0020	0.0020	0.0037	0.0036	0.0006	0.0022	0.0012	0.0006	0	0.0003	0	0.0041	0.0014	0.0010	0.213	0.19430	T	0.34	0.18018	T	0.06	0.23119	B	0.032	0.22131	B	0.005115	0.33089	N	0.137433	0.999727	0.48557	D	0.825	0.20901	L	3.96	0.03354	T	-1.71	0.40660	N	0.268	0.30347	-0.9416	0.42362	T	0.008	0.02801	T	10	0.009752125	0.00219	T	0.003697	0.08558	T	0.044	0.11924	.	.	0.484545746072	0.48084	0.6712492859374355	0.67062	0.519325346913	0.49757	0.538670659065	0.44257	T	0.155927	0.49788	T	-0.582369	0.00186	T	-0.604182	0.12462	T	0.0159896743891639	0.00381	T	0.877512	0.59164	D	0.3603698	0.57864	0.18809496	0.42080	0.34200135	0.56438	0.20767705	0.45035	-4.273	0.27797	T	.	.	0.508	0.64952	A	.;.;.	.;.;.	3.534479	0.49602	22.8	0.99222461520319372	0.55932	0.75429	0.36931	D	AEFDGBI	0.248604	0.36898	N	-0.144937957589112	0.35449	2.036392	-0.00876786967498507	0.39318	2.329366	0.0654260837766287	0.15360	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	0.717000	0.25523	7.662000	0.64290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.906:0.0:0.094	10.899	0.46252	369	0.84396	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1478.43	35	chr1	205059101	.	C	T	1478.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.775;DP=436;ExcessHet=0;FS=2.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.197;SOR=0.459	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1490,0,1774	9	0	1	0
chr1	206962372	206962372	G	A	exonic	FCAMR	.	nonsynonymous SNV	FCAMR:NM_001170631:exon5:c.C493T:p.R165C,FCAMR:NM_032029:exon5:c.C493T:p.R165C,FCAMR:NM_001122979:exon6:c.C493T:p.R165C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0512377649051	.	.	8.314e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs758204600	9.577e-06	9.577e-06	8.167e-06	1.1e-05	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.093e-06	1.656e-05	4.637e-05	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.052	0.39097	T	0.184	0.44905	T	.	.	.	.	.	.	0.223075	0.03468	N	1.507100	1	0.08975	N	.	.	.	-0.3	0.67874	T	-2.97	0.61865	D	0.185	0.21188	-0.6177	0.64084	T	0.396	0.74844	T	10	0.20662981	0.36930	T	0.051238	0.64577	D	0.216	0.50959	.	.	0.526437037968	0.52289	0.6081862795713341	0.60750	0.620349452751	0.56349	0.250639975071	0.03835	T	0.164869	0.51050	T	-0.276741	0.11016	T	-0.453768	0.27282	T	0.424688458442688	0.29864	T	0.690331	0.29972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.49874	B	.;.;.	.;.;.	1.836694	0.23336	15.98	0.99462150824483686	0.65840	0.02222	0.06464	N	AEFDGBI	0.160638	0.28660	N	-0.503484355098186	0.21967	1.169643	-0.736537112248412	0.16054	0.8474439	0.999924673144772	0.46280	0.487112	0.14033	0	0.491513	0.07743	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	-1.78	0.07527	-0.439000	0.06967	-0.164000	0.11293	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5217:0.221:0.2574	9.565	0.38556	816	0.41767	.;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	.	.	.	.	.	.	.	.	0.05	1945.43	35	chr1	206962372	.	G	A	1945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.094;DP=499;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.148;SOR=0.639	GT:AD:DP:GQ:PL	0/1:69,79:148:99:1957,0,1605	9	0	1	0
chr1	211982792	211982792	G	A	exonic	INTS7	.	nonsynonymous SNV	INTS7:NM_001199809:exon8:c.C869T:p.P290L,INTS7:NM_001199811:exon9:c.C1016T:p.P339L,INTS7:NM_001199812:exon9:c.C1016T:p.P339L,INTS7:NM_015434:exon9:c.C1016T:p.P339L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.012703817826	.	.	1.669e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775173317	1.444e-05	1.642e-05	9.573e-06	1.936e-05	0.0003	9.28e-06	7.88e-06	9.048e-05	7.178e-05	0	0	0	0	0	0.0003	2.707e-06	4.992e-05	0.0002	6.578e-06	6.569e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.311	0.14064	T	0.311	0.19660	T	0.02	0.23796	B	0.018	0.25278	B	0.000001	0.62929	D	0.102170	1	0.81001	D	1.355	0.33814	L	1.88	0.66474	T	-1.48	0.42763	N	0.075	0.10340	-0.9409	0.42473	T	0.165	0.50193	T	10	0.08383989	0.13988	T	0.012704	0.31501	T	0.132	0.35948	0.421	0.46365	0.209943299407	0.20609	0.3016576634856587	0.30078	0.196277439007	0.21984	0.451791793108	0.32188	T	0.014892	0.12595	T	-0.142226	0.29536	T	-0.236569	0.51133	T	0.167642707728685	0.18418	T	0.854015	0.53996	D	0.13568051	0.31481	0.15746726	0.36819	0.13568051	0.31481	0.15746726	0.36818	-2.541	0.08682	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	2.814979	0.37065	20.4	0.95153481383984562	0.26290	0.77580	0.38161	D	AEFBI	0.293829	0.40436	N	-0.2788604424952	0.29965	1.666548	-0.0650627158216376	0.36846	2.149531	0.999999999985075	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	3.693000	0.54467	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.135	0.98019	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	661.43	36	chr1	211982792	.	G	A	661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.944;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.883;SOR=0.732	GT:AD:DP:GQ:PL	0/1:21,25:46:99:673,0,530	9	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	.	.	.	.	.	.	.	.	0.2	169.58	83	chr1	212100360	.	A	G	169.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.766;DP=989;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,15:122:9:0|1:212100360_A_G:9,0,4135:212100360	6	0	4	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	.	.	.	.	.	.	.	.	0.25	174.52	80	chr1	212100361	.	C	G	174.52	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.522;DP=993;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.3237;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,15:122:9:0|1:212100360_A_G:9,0,4135:212100360	4	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	169.62	83	chr1	212100362	.	C	G	169.62	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.832;DP=867;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2424;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.66;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,15:122:9:0|1:212100360_A_G:9,0,4135:212100360	6	0	4	0
chr1	213996668	213996668	A	G	exonic	PROX1	.	nonsynonymous SNV	PROX1:NM_001270616:exon2:c.A133G:p.M45V,PROX1:NM_002763:exon2:c.A133G:p.M45V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0461812839483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454202090	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.53788	D	0.099	0.25639	B	0.09	0.29851	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.52	0.56281	T	-1.96	0.45404	N	0.744	0.74918	-0.8626	0.51075	T	0.171	0.51213	T	10	0.6542424	0.69780	D	0.046181	0.62338	D	0.258	0.56959	0.724	0.85850	0.802774861988	0.80093	0.6931374087865204	0.69253	0.897243406759	0.70500	0.705389082432	0.67924	T	0.286357	0.65914	T	0.0805959	0.62109	D	-0.122006	0.61638	T	0.799307346343994	0.46306	D	0.90311	0.66112	D	0.5420779	0.69513	0.54913414	0.73933	0.5420779	0.69514	0.54913414	0.73934	-2.26	0.04341	T	.	.	0.131	0.30264	B	.;.;.;.;.;.	.;.;.;.;.;.	4.026974	0.59515	24.1	0.97893849019102142	0.36690	0.98734	0.86169	D	AEFDGBI	0.949606	0.96241	D	0.266592943358444	0.54465	3.612	0.436010689901095	0.63822	4.623953	0.999999999999976	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.77	5.77	0.91077	8.867000	0.91934	11.225000	0.89902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.395	0.83423	930	0.16408	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1688.43	35	chr1	213996668	.	A	G	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.997;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.298;SOR=0.719	GT:AD:DP:GQ:PL	0/1:87,77:164:99:1700,0,2179	9	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:28,17:50:43:43,0,327	3	0	7	0
chr1	222653314	222653314	T	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001300867:exon10:c.T930A:p.D310E,MIA3:NM_001324065:exon10:c.T930A:p.D310E,MIA3:NM_001324063:exon13:c.T4119A:p.D1373E,MIA3:NM_001324062:exon15:c.T4296A:p.D1432E,MIA3:NM_198551:exon15:c.T4296A:p.D1432E,MIA3:NM_001324064:exon16:c.T3804A:p.D1268E	.	419	1097	5	1	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.017018702899	8.3e-05	0.000199681	0.0005	0	0	0	0	0.0003	0	0.0023	0.000414	64	154602	rs199885504	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	0	0.0001	0	0	9.36e-05	0.0010	0.0002	0.0006	0.0023	0.0003	0.0003	0.0002	0.0004	0.0019	0.0002	0.0002	0.0010	0.0007	4.81e-05	0	6.532e-05	0	0	9.411e-05	0	0.0004	0	0.0019	0.113	0.28772	T	0.519	0.14544	T	0.957	0.54824	D	0.676	0.53321	P	.	.	.	.	1	0.81001	D	.	.	.	1.19	0.40218	T	-2.58	0.58569	D	0.17	0.18103	-0.9682	0.37571	T	0.132	0.44366	T	9	0.013981551	0.00295	T	0.017019	0.38544	T	0.132	0.35948	0.111	0.02112	0.500994481783	0.49735	0.008371439392313995	0.00801	0.102785946879	0.11632	0.377012372017	0.21831	T	0.005223	0.04667	T	-0.482377	0.00716	T	-0.471536	0.25351	T	0.124264207584641	0.14841	T	0.680832	0.30012	T	0.19536626	0.41322	0.17058991	0.39179	0.19536626	0.41322	0.17058991	0.39178	-2.49	0.05713	T	.	.	0.158	0.35034	B	.;.	.;.	3.240612	0.44233	21.9	0.99635131837270707	0.76264	0.92853	0.56706	D	AEFDGBHCI	0.171196	0.29815	N	0.0277308732832431	0.43118	2.611131	0.0534614257907899	0.42239	2.55144	0.99999439870644	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	4.42	0.52775	0.196000	0.16979	0.305000	0.17021	0.665000	0.62972	0.997000	0.40164	0.998000	0.33993	0.994000	0.71098	0.0:0.0716:0.14:0.7884	7.611	0.27298	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	836.43	37	chr1	222653314	.	T	A	836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.069;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.077;SOR=0.693	GT:AD:DP:GQ:PL	0/1:33,33:66:99:848,0,945	9	0	1	0
chr1	223112787	223112787	G	A	exonic	TLR5	.	nonsynonymous SNV	TLR5:NM_003268:exon6:c.C245T:p.T82I	.	415	1051	54	2	0	58	0.0268519	.	.	.	707119	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0045	0.00359425	0.0059	0.0018	0.0016	0	0.0008	0.0065	0.0066	0.0139	0.0058602	906	154602	rs764535	0.0065	0.0065	0.0061	0.0069	0.0147	0.0064	0.0063	0.0135	0.0132	0.0011	0.0021	0.0166	7.558e-05	0.0011	0.0147	0.0064	0.0071	0.0141	0.0042	0.0042	0.0042	0.0042	0.0122	0.0040	0.0039	0.0097	0.0088	0.0012	0	0.0030	0.0115	0	0.0005	0.0170	0.0063	0.0052	0.0122	0.115	0.28520	T	0.268	0.22494	T	.	.	.	.	.	.	0.172334	0.17338	N	0.611782	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.54	0.16598	N	0.127	0.14196	-1.0339	0.19205	T	0.071	0.29034	T	10	0.0050294697	0.00108	T	.	.	.	0.020	0.03691	.	.	0.477143196806	0.47344	0.2498123214568168	0.24895	0.0606423343085	0.06746	0.341168403625	0.16612	T	.	.	.	-0.581305	0.00189	T	-0.596104	0.13141	T	0.00138614168513963	0.00014	T	0.659534	0.27772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.31253	B	.;.;.;.	.;.;.;.	1.290308	0.16911	12.84	0.90655103548364624	0.19907	0.06472	0.12481	N	AEFDBI	0.098121	0.19778	N	-0.849757684353521	0.12055	0.5853579	-0.859095531632201	0.13070	0.6759493	0.0619976288686071	0.15249	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.03	3.1	0.34780	1.533000	0.35645	3.780000	0.39787	-0.148000	0.12190	0.005000	0.17040	1.000000	0.68203	0.032000	0.13371	0.1456:0.0:0.6783:0.1761	6.566	0.21709	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.010101	0.005435	0.014620	0.050000	0.000000	0.021341	0.015152	0.05	1676.43	41	chr1	223112787	.	G	A	1676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=486;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.835;SOR=0.587	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1688,0,1279	9	0	1	0
chr1	225856653	225856653	-	G	exonic	TMEM63A	.	frameshift insertion	TMEM63A:NM_014698:exon17:c.1569dupC:p.S524Qfs*11	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	2.997e-05	0	0.0007	3.84e-05	1	26028	rs747681350	5.816e-05	5.883e-05	3.812e-05	7.84e-05	0.0007	4.81e-05	4.432e-05	0.0005	0.0005	2.989e-05	0	0	0	0	0.0003	1.799e-05	6.626e-05	0.0007	3.287e-05	3.283e-05	3.856e-05	2.691e-05	0.0004	1.261e-05	7.98e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1208.39	33	chr1	225856653	.	T	TG	1208.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.59;DP=392;ExcessHet=0;FS=3.052;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.688;SOR=0.418	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1220,0,1129	9	0	1	0
chr1	225985454	225985454	C	G	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon7:c.G1204C:p.E402Q	.	.	.	.	.	.	.	.	.	.	.	2430750	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.040808669767	.	.	9.109e-05	0	0	0	0	4.496e-05	0	0.0005	7.12e-05	11	154602	rs747430911	7.046e-05	7.046e-05	5.581e-05	8.525e-05	0.0006	5.913e-05	5.522e-05	0.0005	0.0004	0	0	0	0	0	0.0002	4.317e-05	6.623e-05	0.0006	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.024	0.47745	D	0.035	0.52389	D	0.99	0.63424	D	0.906	0.64351	P	0.000515	0.43753	D	0.264599	1	0.81001	D	2.61	0.76335	M	0.52	0.55266	T	-1.7	0.40468	N	0.277	0.31365	-0.2722	0.75752	T	0.364	0.72476	T	10	0.25451857	0.42832	T	0.040809	0.59580	D	0.232	0.53354	0.355	0.35571	0.831658977058	0.83005	0.2536294318734944	0.25276	0.688324314113	0.60431	0.343205153942	0.16918	T	0.112953	0.42961	T	-0.257378	0.13209	T	-0.271223	0.47696	T	0.375304280144963	0.28002	T	0.938406	0.76842	D	0.15835914	0.35632	0.121774316	0.29379	0.15835914	0.35632	0.121774316	0.29378	-9.224	0.69127	D	.	.	0.254	0.48857	B	.	.	4.542441	0.71414	25.7	0.99856692171919814	0.93548	0.99436	0.96005	D	AEFBI	0.872733	0.79473	D	0.814249125732789	0.86989	9.065695	0.783254354229372	0.88605	9.645487	0.999999999999906	0.74766	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	7.877000	0.85647	7.578000	0.60885	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.451	0.94861	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	763.43	34	chr1	225985454	.	C	G	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=370;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.062;SOR=0.534	GT:AD:DP:GQ:PL	0/1:32,31:63:99:775,0,745	9	0	1	0
chr1	228224494	228224494	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon9:c.C2689T:p.R897C,OBSCN:NM_052843:exon9:c.C2689T:p.R897C,OBSCN:NM_001271223:exon10:c.C2965T:p.R989C	.	0	1516	6	0	0	6	0.00197498	.	.	.	718715	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0003	0.00359425	0.0021	0.0001	0.0006	0.0002	0.0005	0.0006	0.0011	0.0124	0.001824	282	154602	rs185552992	0.0010	0.0010	0.0006	0.0013	0.0121	0.0009	0.0009	0.0114	0.0112	0.0001	0.0001	0	0.0002	0.0008	0.0016	0.0003	0.0008	0.0121	0.0007	0.0007	0.0006	0.0008	0.0120	0.0006	0.0006	0.0095	0.0086	4.808e-05	0	0.0002	0	0.0004	0.0004	0.0068	0.0005	0.0014	0.0120	0.223	0.20683	T	0.058	0.83351	T	0.998	0.73220	D	0.719	0.54822	P	0.261885	0.15298	N	0.593109	1	0.26228	N	1.095	0.27400	L	0.42	0.62762	T	-2.01	0.46337	N	0.106	0.10056	-0.8779	0.49927	T	0.212	0.57227	T	10	0.0059574842	0.00134	T	.	.	.	0.080	0.23350	.	.	0.65545073463	0.65257	0.3402054880712132	0.33933	0.129564647105	0.14605	0.194222182035	0.00309	T	0.051211	0.28814	T	-0.515461	0.00467	T	-0.502812	0.22056	T	0.0218854229234903	0.00896	T	0.0630937	0.00459	T	0.049570687	0.08822	0.036260642	0.03036	0.04108215	0.05984	0.036204055	0.03021	-4.812	0.34731	T	.	.	0.074	0.05017	B	.;.;.;.;.	.;.;.;.;.	0.946302	0.13224	9.723	0.35753011564347636	0.02262	0.28140	0.23472	N	AEFDBI	0.129018	0.24702	N	-0.777091853878372	0.13908	0.6886914	-0.897324951063852	0.12157	0.6237237	6.60427131453824E-4	0.07551	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	4.42	1.35	0.21078	-0.049000	0.11879	-4.488000	0.02131	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1387:0.6532:0.1338:0.0744	6.135	0.19446	493	0.76500	.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001033	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.05	2186.43	34	chr1	228224494	.	C	T	2186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=851;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=2.12;SOR=0.726	GT:AD:DP:GQ:PL	0/1:107,88:195:99:2198,0,2806	9	0	1	0
chr1	229558205	229558205	C	A	exonic	ABCB10	.	nonsynonymous SNV	ABCB10:NM_012089:exon1:c.G448T:p.A150S	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	0.0171725	0.0037	0	0	0.01	.	0.0019	0.0167	0.0039	0.0020116	311	154602	rs4148756	0.0041	0.0044	0.0042	0.0041	0.0971	0.0040	0.0040	0.0940	0.0927	0.0006	0.0482	0.0004	0.0971	0.0208	0.0014	0.0005	0.0049	0.0021	0.0072	0.0072	0.0061	0.0084	0.0456	0.0068	0.0067	0.0408	0.0390	0.0012	0	0.0343	0	0.0456	0.0147	0	0.0011	0.0156	0.0043	0.255	0.16848	T	0.299	0.20422	T	0.018	0.17786	B	0.008	0.13708	B	0.459200	0.12412	N	0.710029	1	0.08975	N	0.985	0.24966	L	-2.26	0.87352	D	-0.19	0.09965	N	0.113	0.10056	-1.0237	0.22508	T	0.053	0.22423	T	10	0.0018955469	0.00026	T	.	.	.	0.087	0.25287	.	.	.	.	0.17563211044986582	0.17482	0.338778568637	0.35842	0.753332853317	0.74939	T	0.015786	0.13173	T	-0.403426	0.02198	T	-0.265417	0.48283	T	0.0247504426443428	0.01240	T	0.337566	0.07230	T	0.04225667	0.06374	0.06964805	0.14701	0.04225667	0.06374	0.06964805	0.14700	-5.485	0.41728	T	.	.	0.093	0.14108	B	.	.	0.854645	0.12271	8.811	0.89775729279939165	0.19091	0.03331	0.08406	N	ALL	0.022701	0.01168	N	-1.03960194683951	0.07793	0.3632279	-1.05076203629099	0.08691	0.4285844	0.999999999999807	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.98	1.59	0.22622	0.041000	0.13813	-0.878000	0.07076	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1306:0.651:0.2184:0.0	9.593	0.38722	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	91.45	19	chr1	229558205	.	C	A	91.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=134;ExcessHet=0;FS=0;InbreedingCoeff=-0.0541;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=2.45;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,4:10:99:103,0,118	9	0	1	0
chr1	235979889	235979889	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon18:c.G3442A:p.E1148K	.	415	1098	8	1	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0135830568603	0.0008	0.000998403	0.0012	9.614e-05	0.0008	0.0005	0	0.0017	0.0011	0.0012	0.0012096	187	154602	rs35565926	0.0011	0.0011	0.0010	0.0011	0.0109	0.0010	0.0010	0.0088	0.0080	0.0005	0.0013	0.0146	0.0054	3.744e-05	0.0109	0.0005	0.0020	0.0015	0.0011	0.0011	0.0010	0.0012	0.0021	0.0010	0.0009	0.0013	0.0011	0.0003	0	0.0018	0.0176	0.0021	0	0.0170	0.0007	0.0014	0.0006	0.521	0.28520	T	0.182	0.34359	T	0.436	0.39027	B	0.112	0.31615	B	0.000103	0.50451	D	0.230615	0.999756	0.48800	D	1.7	0.43825	L	1.58	0.29085	T	-1.39	0.34397	N	0.622	0.65844	-1.0906	0.05433	T	0.067	0.27572	T	10	0.010430992	0.00232	T	0.013583	0.33091	T	0.118	0.32913	.	.	0.483741690565	0.48004	0.7211199717925146	0.72054	0.252981717089	0.27868	0.415167570114	0.27171	T	0.096291	0.39795	T	-0.407339	0.02071	T	-0.382518	0.35427	T	0.0449908209093968	0.04601	T	0.928457	0.74278	D	0.04680583	0.07894	0.108472735	0.26130	0.04680583	0.07894	0.108472735	0.26130	-3.853	0.25452	T	0.3795472274827144	0.47413	0.109	0.20819	B	.;.	.;.	2.562128	0.33183	19.26	0.99746264546661478	0.83927	0.94535	0.61480	D	AEFDBI	0.792191	0.72056	D	-0.179924630265715	0.33972	1.933	-0.0911095388232909	0.35756	2.072493	0.999983601478189	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.92	4.0	0.45673	2.700000	0.46753	3.486000	0.38682	-0.217000	0.08171	0.992000	0.37556	0.998000	0.33993	0.168000	0.20914	0.0:0.7532:0.2468:0.0	16.54	0.84230	360	0.84920	.;.	.	.	.	.	.	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	0.015106	0.015152	0.013587	0.032164	0.050000	0.008621	0.006098	0.003788	0.05	2013.43	35	chr1	235979889	.	C	T	2013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.658;SOR=0.666	GT:AD:DP:GQ:PL	0/1:85,88:173:99:2025,0,1817	9	0	1	0
chr1	236762536	236762536	G	A	exonic	ACTN2	.	nonsynonymous SNV	ACTN2:NM_001103:exon21:c.G2602A:p.A868T,ACTN2:NM_001278343:exon21:c.G2602A:p.A868T,ACTN2:NM_001278344:exon23:c.G1978A:p.A660T	Cardiomyopathy, dilated, 1AA, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 23, with or without LVNC, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	228365	not_provided|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_specified|Myopathy,_congenital,_with_structured_cores_and_z-line_abnormalities|Myopathy,_distal,_6,_adult-onset,_autosomal_dominant	MedGen:C3661900|MONDO:MONDO:0012808,MedGen:C2677338,OMIM:612158,Orphanet:154|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0032852,MedGen:C5231445,OMIM:618654|MONDO:MONDO:0032853,MedGen:C5203349,OMIM:618655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.0065960459423	7.7e-05	0.000199681	4.954e-05	0.0003	0	0	0	3.005e-05	0	6.06e-05	4.53e-05	7	154602	rs143150260	7.456e-05	7.456e-05	6.126e-05	8.801e-05	0.0003	6.315e-05	5.873e-05	7.047e-05	6.54e-05	5.974e-05	0	0	0	0	0.0003	8.453e-05	0.0002	1.159e-05	4.596e-05	4.593e-05	3.856e-05	5.37e-05	7.22e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	7.22e-05	0	0	0	0	0	0	5.88e-05	0	0	0.036	0.43393	D	0.167	0.30729	T	0.004	0.12183	B	0.003	0.08700	B	0.281713	0.03838	N	1.510010	0.999954	0.19072	N	1.1	0.28011	L	0.95	0.43279	T	-0.36	0.13035	N	0.047	0.01911	-0.9808	0.34817	T	0.077	0.30767	T	10	0.053504944	0.05552	T	0.006596	0.17386	T	0.028	0.06331	.	.	0.413952526745	0.41011	0.49156699031260054	0.49077	0.210097312842	0.23489	0.464972168207	0.33991	T	0.257365	0.62839	T	-0.445471	0.01201	T	-0.640996	0.09596	T	0.0223241738193941	0.00945	T	0.823018	0.48339	T	0.074888766	0.16836	0.07378174	0.16069	0.074888766	0.16835	0.07378174	0.16069	-6.335	0.49149	T	0.1974373651758204	0.26112	0.069	0.04277	B	.;.;.	.;.;.	2.946698	0.39199	20.9	0.98761478178847895	0.45816	0.22155	0.21650	N	AEFDBHCI	0.136295	0.25691	N	-0.927136963311464	0.10210	0.4868639	-0.853964215652759	0.13193	0.6830432	0.917977535305647	0.26558	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	0.621	0.16817	0.002000	0.12962	0.656000	0.20461	-0.274000	0.06627	0.000000	0.06391	0.095000	0.22593	0.746000	0.35646	0.1534:0.4454:0.4013:0.0	9.420	0.37711	498	0.76166	EF-hand, Ca insensitive;.;EF-hand, Ca insensitive	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	999.43	38	chr1	236762536	.	G	A	999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.105;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1011,0,947	9	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2613.07	86	chr1	240207634	.	G	*	2613.07	.	AC=5;AF=0.25;AN=20;DP=619;ExcessHet=0.0952;FS=0.455;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=60;QD=7.32;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,25:64:99:.:.:896,0,1534:.	6	1	3	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2667.45	80	chr1	240207641	.	T	*	2667.45	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.8;DP=628;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=-0.926;QD=7.64;ReadPosRankSum=1.37;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,25:64:99:.:.:896,0,1534:.	6	1	3	0
chr1	240207780	240207812	CCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2968_3000del:p.A1094_G1104del,FMN2:NM_001305424:exon6:c.2980_3012del:p.A1098_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0044	0.0062	0.0114	0.0028	0.0066	0.0028	0.0048	3.84e-05	1	26028	rs749497209	0.0056	0.0048	0.0048	0.0065	0.0231	0.0055	0.0054	0.0219	0.0215	0.0021	0.0034	0.0092	0.0076	0.0116	0.0102	0.0042	0.0073	0.0231	0.0004	0.0050	0.0004	0.0005	0.0014	0.0003	0.0002	0.0003	0.0002	0.0007	0	0.0005	0	0	0	0	0.0004	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	927.39	36	chr1	240207779	.	TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	T	927.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.11;DP=468;ExcessHet=0;FS=1.272;InbreedingCoeff=0.6073;MLEAC=3;MLEAF=0.15;MQ=56.59;MQRankSum=0.573;QD=22.62;ReadPosRankSum=0.388;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,8:24:99:0|1:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:220,0,596:240207779	8	1	1	0
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2674.01	36	chr1	240207785	.	A	*	2674.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.546;DP=409;ExcessHet=0;FS=2.143;InbreedingCoeff=0.7414;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=3.04;QD=16.3;ReadPosRankSum=1.06;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,8:23:99:1|0:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:660,399,456:240207779	5	1	1	3
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1107.53	30	chr1	240207806	.	C	*	1107.53	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.671;DP=273;ExcessHet=0.2119;FS=0;InbreedingCoeff=0.2455;MLEAC=4;MLEAF=0.4;MQ=52.27;MQRankSum=2.74;QD=12.59;ReadPosRankSum=-0.67;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,8:21:99:1|0:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:593,334,393:240207779	3	1	1	5
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1207.52	30	chr1	240207812	.	G	*	1207.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.141;DP=252;ExcessHet=0.0509;FS=3.463;InbreedingCoeff=0.3649;MLEAC=4;MLEAF=0.286;MQ=53.32;MQRankSum=2.37;QD=12.45;ReadPosRankSum=-0.439;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,8:21:99:1|0:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:634,378,438:240207779	5	1	1	3
chr1	240208225	240208225	C	T	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.C3413T:p.A1138V,FMN2:NM_001305424:exon6:c.C3425T:p.A1142V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215203	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0593264705397	.	.	4.303e-05	0	0	0	0	3.904e-05	0	0.0002	3.84e-05	1	26028	rs199570117	0.0002	0.0003	8.288e-05	0.0003	0.0019	0.0002	0.0002	0.0017	0.0015	0	6.742e-05	8.973e-05	8.975e-05	0	0.0006	3.489e-05	0.0001	0.0019	0.0002	0.0001	0.0003	0	0.0003	0	0	.	.	0	0	0	0	0	0	0	0.0003	0	0	0.125	0.27310	T	0.364	0.16766	T	0.001	0.07471	B	0.001	0.04355	B	0.949794	0.08295	N	0.965537	1	0.08975	N	-0.265	0.03777	N	0.3	0.58755	T	0.98	0.01447	N	0.072	0.04547	-1.0481	0.14932	T	0.074	0.29739	T	9	0.039099485	0.02376	T	0.059326	0.67625	D	0.026	0.05648	.	.	0.45318261447	0.44940	0.031559809544390006	0.03104	0.0908426113057	0.10259	0.480732858181	0.36158	T	0.039202	0.25109	T	-0.489698	0.00652	T	-0.676765	0.07183	T	0.027322051155838	0.01590	T	0.563244	0.19836	T	0.01999625	0.00544	0.03595056	0.02945	0.01999625	0.00544	0.03595056	0.02944	-5.064	0.37526	T	.	.	0.078	0.06896	B	.	.	-1.087624	0.00655	0.018	0.4854602836483915	0.04060	0.00082	0.00556	N	AEFI	0.024825	0.01600	N	-1.81045544107508	0.00520	0.0223836	-1.88724632416224	0.00519	0.02299746	0.0279158718562539	0.13801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	-4.88	0.02884	-2.667000	0.00919	-20.000000	0.00162	-4.313000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1539:0.3443:0.0:0.5019	4.261	0.10189	976	0.04745	Formin Homology 1|Formin, FH2 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	0.010106	0.000000	0.009511	0.020161	0.000000	0.025862	0.003145	0.015152	0.0625	269.74	13	chr1	240208225	.	C	T	269.74	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.744;DP=210;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.063;MQ=46.51;MQRankSum=-1.21;QD=14.99;ReadPosRankSum=-0.578;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,10:18:99:0|1:240208184_A_T:280,0,279:240208184	7	0	1	2
chr1	241879258	241879258	A	G	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon11:c.A2024G:p.Q675R,EXO1:NM_006027:exon11:c.A2024G:p.Q675R,EXO1:NM_001319224:exon12:c.A2021G:p.Q674R,EXO1:NM_130398:exon13:c.A2024G:p.Q675R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00470202665616	.	.	2.518e-05	0	0	0	0	4.541e-05	0	0	3.23e-05	5	154602	rs776504870	8.98e-06	8.893e-06	6.866e-06	1.112e-05	1.203e-05	5.01e-06	3.86e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.084e-05	0	1.203e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12469	T	0.594	0.10678	T	0.001	0.09854	B	0.001	0.08700	B	0.020912	0.26940	N	0.412793	0.999626	0.20843	N	1.775	0.45938	L	1.3	0.35590	T	-0.81	0.22294	N	0.081	0.06059	-1.0313	0.20034	T	0.063	0.26101	T	10	0.058306992	0.06833	T	0.004702	0.11691	T	0.020	0.03691	0.157	0.06070	0.317667799068	0.31381	0.3393158103897112	0.33844	0.0516201544149	0.05681	0.215484410524	0.01065	T	0.136837	0.46943	T	-0.353369	0.04519	T	-0.606665	0.12257	T	0.0324437171220779	0.02379	T	0.488051	0.14953	T	0.027935578	0.02056	0.03533642	0.02767	0.027935578	0.02056	0.03533642	0.02766	-3.835	0.22152	T	.	.	0.069	0.06571	B	.;.;.	.;.;.	0.811509	0.11827	8.394	0.9655727623847864	0.30247	0.45472	0.27546	N	AEFBI	0.088092	0.17860	N	-0.523068846400105	0.21335	1.131522	-0.419374740044056	0.24428	1.337647	0.927473652181621	0.26890	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.42	3.12	0.34986	0.588000	0.23626	-0.788000	0.07426	0.756000	0.94297	0.627000	0.27974	0.000000	0.08366	0.776000	0.36750	0.8158:0.0:0.1842:0.0	7.372	0.25978	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1434.43	39	chr1	241879258	.	A	G	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=438;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-1.239;SOR=0.544	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1446,0,941	9	0	1	0
chr1	247532157	247532159	TGG	-	exonic	OR2C3	.	nonframeshift deletion	OR2C3:NM_198074:exon2:c.353_355del:p.T118del	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0005	0	0.0006	0	0	6.006e-05	0	0.0033	0.0004657	72	154602	rs543798884	0.0003	0.0003	0.0002	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0.0002	0	0	0	0.0017	5.666e-05	0.0003	0.0030	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	9.698e-05	0.0024	0.0020	2.407e-05	0	0	0	0.0002	0	0.0034	4.41e-05	0.0005	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	2864.39	97	chr1	247532156	.	ATGG	A	2864.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.459;DP=993;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-1.042;SOR=0.674	GT:AD:DP:GQ:PL	0/1:80,75:155:99:2876,0,3113	9	0	1	0
chr1	248361878	248361878	C	T	exonic	OR2T4	.	nonsynonymous SNV	OR2T4:NM_001004696:exon1:c.C298T:p.L100F	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000557893716582	0.0012	0.000199681	0.0013	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0001	0.0012225	189	154602	rs142091573	0.0019	0.0019	0.0021	0.0018	0.0068	0.0019	0.0018	0.0051	0.0045	0.0003	0.0020	3.826e-05	0.0001	0.0003	0.0068	0.0023	0.0018	0.0001	0.0012	0.0012	0.0013	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0	0	0	0.0034	0.0020	0.0019	0.0002	0.211	0.19569	T	0.207	0.26969	T	0.019	0.17989	B	0.016	0.17743	B	0.017570	0.27690	N	0.172440	1	0.08975	N	-0.25	0.03863	N	7.82	0.00335	T	-1.99	0.45949	N	0.02	0.00308	-0.9808	0.34817	T	0.001	0.00188	T	10	0.0059937537	0.00134	T	5.58E-4	0.00221	T	0.048	0.13305	.	.	0.163833314356	0.15978	0.039154727845386976	0.03861	0.156088582231	0.17621	0.292360067368	0.09266	T	0.018371	0.14822	T	-0.670527	0.00055	T	-0.740869	0.03854	T	0.0070096497158153	0.00080	T	0.79482	0.43725	T	0.11237196	0.26548	0.10960948	0.26419	0.11237196	0.26548	0.10960948	0.26418	-3.418	0.15300	T	.	.	0.094	0.14523	B	.;.	.;.	0.470716	0.08402	5.158	0.98166550684512988	0.38822	0.00442	0.02154	N	AEFI	0.020250	0.00781	N	-0.889786913878446	0.11084	0.5330406	-0.862124958080193	0.12996	0.6717601	1.20225241510058E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	-0.834	0.10234	-0.692000	0.05228	-20.000000	0.00162	0.510000	0.23265	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.0:0.5519:0.0:0.4481	8.800	0.34064	982	0.03397	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	0.002643	0.000000	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05	4361.43	251	chr1	248361878	.	C	T	4361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.088;DP=2117;ExcessHet=0;FS=1.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=0.167;QD=12.29;ReadPosRankSum=0.542;SOR=0.757	GT:AD:DP:GQ:PL	0/1:182,173:355:99:4373,0,4592	9	0	1	0
chr2	229986	229986	T	C	exonic	SH3YL1	.	nonsynonymous SNV	SH3YL1:NM_001159597:exon8:c.A761G:p.Q254R,SH3YL1:NM_015677:exon8:c.A761G:p.Q254R,SH3YL1:NM_001282682:exon10:c.A473G:p.Q158R,SH3YL1:NM_001282687:exon10:c.A473G:p.Q158R	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00423834516194	0.0014	0.000399361	0.0019	0.0005	0.0014	0	0	0.0027	0.0022	0.0013	0.0018434	285	154602	rs199653837	0.0024	0.0024	0.0024	0.0024	0.0057	0.0023	0.0023	0.0042	0.0037	0.0006	0.0021	0.0020	0	0.0005	0.0057	0.0027	0.0020	0.0014	0.0015	0.0016	0.0016	0.0015	0.0026	0.0014	0.0013	0.0022	0.0021	0.0001	0	0.0026	0.0009	0	0.0003	0.0034	0.0025	0.0043	0.0006	0.574	0.48186	T	0.585	0.09897	T	0.001	0.07471	B	0.001	0.04355	B	0.370414	0.13536	N	0.667620	0.54194	0.32854	D	1.645	0.42016	L	2.11	0.29085	T	-0.08	0.11913	N	0.169	0.22357	-1.0042	0.28696	T	0.045	0.19397	T	10	0.012736946	0.00272	T	0.004238	0.10247	T	0.012	0.01476	.	.	0.110078149338	0.10416	0.3546125790743127	0.35375	0.0842887182597	0.09520	0.305983483791	0.11300	T	0.063301	0.32140	T	-0.580779	0.00191	T	-0.610704	0.11927	T	0.000567911600228399	0.00005	T	0.676232	0.33902	T	0.020960541	0.00675	0.03468264	0.02580	0.020960541	0.00675	0.03468264	0.02579	-3.509	0.26009	T	.	.	0.072	0.11124	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.284495	0.02687	0.348	0.70691038010575358	0.09379	0.14179	0.18265	N	AEFGBI	0.106888	0.21312	N	-0.950254372025899	0.09686	0.4595417	-0.90197881772808	0.12047	0.6174713	0.0406218409034402	0.14448	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.8	2.34	0.28071	-0.037000	0.12116	-1.432000	0.05453	0.609000	0.47794	0.004000	0.16614	0.000000	0.08366	0.162000	0.20715	0.0:0.0:0.3663:0.6337	9.255	0.36735	849	0.35778	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.002717	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	377.43	36	chr2	229986	.	T	C	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.945;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.401;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,20:44:99:389,0,593	9	0	1	0
chr2	11144058	11144058	T	C	exonic	C2orf50	.	nonsynonymous SNV	C2orf50:NM_001371320:exon3:c.T436C:p.F146L,C2orf50:NM_001371321:exon3:c.T436C:p.F146L,C2orf50:NM_182500:exon3:c.T436C:p.F146L	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00337620504078	0.0028	0.000399361	0.0029	0.0004	0.0011	0	0.0026	0.0045	0.0056	0.0004	0.0028007	433	154602	rs148657536	0.0030	0.0030	0.0031	0.0030	0.0045	0.0030	0.0029	0.0035	0.0034	0.0003	0.0014	0.0031	0	0.0022	0.0045	0.0035	0.0026	0.0002	0.0025	0.0025	0.0024	0.0026	0.0040	0.0023	0.0022	0.0036	0.0034	0.0006	0	0.0022	0.0046	0	0.0023	0.0034	0.0040	0.0033	0.0004	0.49	0.07994	T	0.815	0.03886	T	0.041	0.21357	B	0.028	0.21332	B	0.002621	0.36208	N	0.190712	0.732861	0.33738	D	1.735	0.44892	L	.	.	.	-2.13	0.48354	N	0.141	0.44570	-1.0193	0.23943	T	0.081	0.32090	T	9	0.0040706694	0.00080	T	0.003376	0.07542	T	0.032	0.07718	0.303	0.27164	0.0297737177859	0.01360	0.12184837138100313	0.12111	0.149921300314	0.16908	.	.	.	0.003865	0.03272	T	-0.460456	0.00977	T	-0.433236	0.29568	T	0.00991400461726251	0.00132	T	0.471453	0.13989	T	0.12265437	0.28817	0.10101952	0.24170	0.12265437	0.28817	0.10101952	0.24169	-2.006	0.03203	T	.	.	0.710	0.73575	P	.;.	.;.	1.844056	0.23430	16.01	0.77732686405548468	0.11999	0.41591	0.26691	N	AEFBI	0.061886	0.11862	N	-0.661078094397877	0.17138	0.8793467	-0.598418449430217	0.19533	1.048486	0.160406453495328	0.17584	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.33	3.18	0.35615	1.217000	0.32059	3.423000	0.38265	0.665000	0.62972	0.987000	0.36337	0.999000	0.35428	0.881000	0.42162	0.0:0.3067:0.0:0.6933	4.648	0.11965	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	916.43	33	chr2	11144058	.	T	C	916.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=393;ExcessHet=0;FS=3.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.556;SOR=0.397	GT:AD:DP:GQ:PL	0/1:48,41:89:99:928,0,1179	9	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	.	.	.	.	.	.	.	.	0.3	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:41,13:54:15:15,0,491	4	0	6	0
chr2	25750067	25750067	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G709A:p.A237T,ASXL2:NM_001369346:exon10:c.G1315A:p.A439T,ASXL2:NM_018263:exon11:c.G1489A:p.A497T	Shashi-Pena syndrome, Autosomal dominant	425	1062	34	1	0	36	0.0166667	.	.	.	697505	ASXL2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00780264859159	0.0038	0.00139776	0.0038	0.0004	0.0033	0	0.0005	0.0057	0.0067	0.0019	0.0038551	596	154602	rs192716734	0.0045	0.0045	0.0045	0.0046	0.0232	0.0044	0.0044	0.0200	0.0188	0.0011	0.0061	0.0083	0	0.0011	0.0232	0.0049	0.0053	0.0018	0.0042	0.0041	0.0043	0.0040	0.0093	0.0039	0.0038	0.0081	0.0076	0.0010	0.0011	0.0093	0.0115	0	0.0011	0.0476	0.0054	0.0057	0.0010	0.034	0.44358	D	0.376	0.16182	T	0.024	0.19075	B	0.009	0.14300	B	0.021661	0.26787	N	0.445872	0.980241	0.25126	N	2.045	0.56016	M	2.24	0.18248	T	-0.89	0.24026	N	0.106	0.09066	-1.0294	0.20649	T	0.025	0.10688	T	10	0.0029503405	0.00048	T	0.007803	0.20694	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.22718209133153866	0.22633	0.124778172504	0.14054	0.325251996517	0.14216	T	0.060297	0.31349	T	-0.595465	0.00155	T	-0.625647	0.10746	T	0.00537184867181338	0.00058	T	0.70513	0.31558	T	0.040606186	0.05827	0.060843907	0.11654	0.036956888	0.04647	0.06953732	0.14664	-3.332	0.14656	T	0.12593753146672473	0.12621	0.071	0.08705	B	.;.;.	.;.;.	1.725236	0.21960	15.42	0.94025882486374557	0.24136	0.28129	0.23469	N	AEFGBI	0.044503	0.07168	N	-0.613328401915829	0.18542	0.9635463	-0.491562414355824	0.22384	1.215579	0.943501586285711	0.27572	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.01	4.22	0.49153	0.729000	0.25696	0.856000	0.22183	-0.176000	0.10722	0.058000	0.21700	0.999000	0.35428	0.956000	0.50813	0.0:0.8518:0.0:0.1482	11.181	0.47858	704	0.57414	.;.;.	.	.	.	.	.	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	0.025176	0.020202	0.036685	0.032164	0.100000	0.008621	0.015244	0.011364	0.05	1630.43	34	chr2	25750067	.	C	T	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.5;DP=478;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.212;SOR=0.774	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1642,0,1703	9	0	1	0
chr2	26454684	26454684	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon15:c.C1957T:p.R653C	Ciliary dyskinesia, primary, 21, Autosomal recessive	422	1088	11	1	0	13	0.00593878	.	.	.	686174	Inborn_genetic_diseases|Primary_ciliary_dyskinesia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0133825133334	.	.	0.0005	9.614e-05	0.0003	0	0.0002	7.497e-05	0.0022	0.0028	0.0003881	60	154602	rs139106371	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	8.944e-05	0	7.557e-05	7.489e-05	0.0016	4.766e-05	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0008	0.0006	2.408e-05	0	0.0004	0	0	0	0	8.823e-05	0	0.0017	0.014	0.53172	D	0.001	0.83351	D	1.0	0.90584	D	0.911	0.64720	D	0.009340	0.30410	N	0.322809	0.999917	0.19599	N	2.485	0.72352	M	2.1	0.19990	T	-5.28	0.84246	D	0.339	0.38027	-1.0215	0.23227	T	0.114	0.40672	T	10	0.020758808	0.00484	T	0.013383	0.32738	T	0.058	0.16647	0.567	0.68901	0.253205268125	0.24938	0.36535253999707445	0.36449	0.119650521778	0.13479	0.320220708847	0.13455	T	0.069858	0.33814	T	-0.478787	0.00752	T	-0.464512	0.26109	T	0.0857806656965326	0.10709	T	0.666133	0.27528	T	0.10670609	0.25230	0.13347591	0.32006	0.09847987	0.23229	0.10094992	0.24151	-6.006	0.46330	T	.	.	0.191	0.40968	B	.	.	2.494027	0.32184	18.97	0.99434719438662533	0.64472	0.21337	0.21366	N	AEFBI	0.171622	0.29860	N	-0.293906595048252	0.29384	1.628939	-0.513926226274047	0.21774	1.179546	0.995272016818871	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.15	2.31	0.27816	0.423000	0.21032	1.629000	0.27729	-1.642000	0.00838	0.097000	0.22731	0.151000	0.23179	0.000000	0.00833	0.1383:0.7107:0.0:0.1509	7.164	0.24855	416	0.81733	.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1121.43	34	chr2	26454684	.	C	T	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.245;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.305;SOR=0.675	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1133,0,1420	9	0	1	0
chr2	26727806	26727806	C	A	exonic	KCNK3	.	nonsynonymous SNV	KCNK3:NM_002246:exon2:c.C423A:p.H141Q	Pulmonary hypertension, primary, 4, Autosomal dominant	27	1484	11	0	0	11	0.00369251	.	.	.	450788	not_provided|Pulmonary_hypertension,_primary,_4|KCNK3-related_disorder	MedGen:C3661900|MONDO:MONDO:0014136,MedGen:C3809198,OMIM:615344,Orphanet:422|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0093624954756	0.0007	0.000599042	0.0006	0.0003	0.0011	0	0	0.0009	0.0011	7.12e-05	0.0005175	80	154602	rs151228365	0.0008	0.0008	0.0008	0.0007	0.0064	0.0007	0.0007	0.0048	0.0042	0.0002	0.0015	0.0062	2.523e-05	0	0.0064	0.0007	0.0014	4.651e-05	0.0010	0.0010	0.0008	0.0012	0.0051	0.0008	0.0008	0.0042	0.0038	0.0002	0	0.0051	0.0055	0	0	0.0102	0.0005	0.0028	0.0002	0.223	0.18757	T	0.285	0.21343	T	0.04	0.21238	B	0.017	0.18140	B	0.000000	0.84330	N	0.051388	0.998403	0.44873	D	1.735	0.44892	L	1.91	0.23283	T	-1.53	0.37178	N	0.486	0.52029	-1.1052	0.03517	T	0.059	0.24908	T	10	0.011818379	0.00257	T	0.009362	0.24553	T	0.059	0.16972	0.361	0.36548	0.405012372841	0.40113	0.9278199078095344	0.92759	.	.	0.592059731483	0.51785	T	0.296454	0.78990	T	-0.463711	0.00932	T	-0.45788	0.26830	T	0.0403551168122422	0.03754	T	0.59464	0.23867	T	0.58008647	0.71613	0.47263727	0.69429	0.61283845	0.73381	0.5521105	0.74101	-7.062	0.54486	T	0.2099782536906127	0.28122	0.190	0.40762	B	.;.	.;.	3.006292	0.40184	21.1	0.94619292397259591	0.25195	0.86678	0.46010	D	AEFDBCI	0.698283	0.65601	D	-0.129095625560849	0.36129	2.084243	0.0173914898049412	0.40522	2.419732	0.99999999978881	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.27	4.38	0.52019	2.661000	0.46423	1.792000	0.28808	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.161:0.839:0.0:0.0	13.184	0.59096	642	0.63909	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.012228	0.008772	0.050000	0.008621	0.003049	0.000000	0.05	1815.43	34	chr2	26727806	.	C	A	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.559;DP=446;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.194;SOR=0.772	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1827,0,1641	9	0	1	0
chr2	36808763	36808763	G	C	exonic	VIT	.	nonsynonymous SNV	VIT:NM_001177970:exon13:c.G1573C:p.E525Q,VIT:NM_001177971:exon13:c.G1570C:p.E524Q,VIT:NM_001177969:exon14:c.G1636C:p.E546Q,VIT:NM_001328661:exon14:c.G1615C:p.E539Q,VIT:NM_053276:exon15:c.G1681C:p.E561Q	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.128613976033	.	.	6.599e-05	0	0	0	0	6e-05	0	0.0002	3.84e-05	1	26028	rs199704976	7.731e-05	7.73e-05	6.262e-05	9.215e-05	0.0012	6.533e-05	6.136e-05	0.0006	0.0004	0	2.236e-05	0	2.519e-05	1.872e-05	0.0012	6.206e-05	4.968e-05	0.0004	8.533e-05	8.53e-05	8.991e-05	8.054e-05	0.0004	4.952e-05	3.959e-05	9.046e-05	7.011e-05	0	0	0	0	0	0	0	0.0002	0	0.0004	0.008	0.58626	D	0.006	0.72224	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.525	0.73725	M	-1.83	0.84122	D	-2.87	0.61865	D	0.907	0.91505	0.573	0.91539	D	0.738	0.91033	D	10	0.895501	0.88903	D	0.128614	0.81057	D	0.762	0.91920	.	.	0.947900896285	0.94735	0.82444356138451	0.82402	0.199556644927	0.22355	0.411731541157	0.26696	T	0.525717	0.83495	D	0.0937972	0.63614	D	0.193149	0.82747	D	0.708760380744934	0.41139	D	0.974903	0.92042	D	0.47202104	0.65414	0.37514183	0.62664	0.47202104	0.65415	0.37514183	0.62664	-9.47	0.71045	D	.	.	0.81	0.77754	P	.;.;.;.;.;.	.;.;.;.;.;.	5.251788	0.88174	29.5	0.99842099459847067	0.92229	0.96440	0.69150	D	AEFGBCI	0.934043	0.92683	D	0.77476413374736	0.84504	8.306511	0.720491238246952	0.83934	8.154039	0.999999999359838	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	4.39	0.52211	10.003000	0.99689	11.925000	0.99859	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0736:0.0:0.9264:0.0	13.845	0.62956	720	0.55521	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	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	0.003049	0.000000	0.05	3230.43	37	chr2	36808763	.	G	C	3230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=543;ExcessHet=0;FS=1.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-2.823;SOR=0.776	GT:AD:DP:GQ:PL	0/1:108,119:227:99:3242,0,2781	9	0	1	0
chr2	68513563	68513563	A	G	exonic	APLF	.	nonsynonymous SNV	APLF:NM_173545:exon5:c.A505G:p.N169D	.	433	1080	9	0	0	9	0.00414938	.	.	.	3289724	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00327466638672	0.0006	0.000399361	0.0006	0	0.0011	0	0	0.0006	0	0.0009	0.0004916	76	154602	rs145654399	0.0006	0.0006	0.0006	0.0006	0.0068	0.0005	0.0005	0.0051	0.0045	0	0.0009	0.0037	0	3.746e-05	0.0068	0.0005	0.0009	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	9.636e-05	0	0.0014	0.0035	0	0	0.0034	0.0007	0.0014	0.0004	0.836	0.02840	T	0.859	0.03418	T	0.039	0.21116	B	0.014	0.16862	B	0.915975	0.08520	N	0.966138	1	0.08975	N	-0.695	0.01866	N	2.01	0.21291	T	-0.64	0.18670	N	0.1	0.08227	-0.9601	0.39162	T	0.018	0.07234	T	10	0.0062438548	0.00141	T	0.003275	0.07237	T	0.008	0.00669	.	.	0.246773566709	0.24272	0.10513774435908821	0.10443	0.0435277124011	0.04688	0.293653845787	0.09458	T	0.025622	0.19125	T	-0.697356	0.00038	T	-0.824921	0.01356	T	0.00972487050076408	0.00127	T	0.626037	0.24205	T	0.044666413	0.07179	0.040119555	0.04263	0.044666413	0.07179	0.040119555	0.04263	-4.059	0.24683	T	.	.	0.071	0.03736	B	.	.	0.106895	0.05072	1.611	0.62635984920107424	0.07013	0.02997	0.07858	N	AEFBI	0.036514	0.04877	N	-1.75202921020877	0.00673	0.02905452	-1.73852517746109	0.00977	0.04377642	3.20258260461768E-4	0.06498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.17	-5.25	0.02567	-0.552000	0.06110	-0.682000	0.07881	-0.840000	0.02799	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.5816:0.0674:0.1091:0.2419	4.249	0.10136	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	647.43	33	chr2	68513563	.	A	G	647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.248;DP=364;ExcessHet=0;FS=1.129;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.28;SOR=0.941	GT:AD:DP:GQ:PL	0/1:20,28:48:99:659,0,452	9	0	1	0
chr2	71149341	71149341	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon10:c.G1784A:p.R595Q	.	436	1051	32	3	0	38	0.017757	.	.	.	2811988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.020274678179	0.0022	0.00159744	0.0029	0.0002	0.0037	0.0001	0.0002	0.0039	0.0035	0.0023	0.0025873	400	154602	rs115361918	0.0020	0.0020	0.0018	0.0022	0.0426	0.0019	0.0019	0.0383	0.0366	0.0019	0.0033	0.0123	2.52e-05	0.0001	0.0426	0.0015	0.0042	0.0025	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0006	0	0.0054	0.0135	0	0	0.0238	0.0026	0.0085	0.0023	0.02	0.49613	D	0.087	0.40747	T	1.0	0.90584	D	0.977	0.73820	D	0.000011	0.62929	N	0.107790	0.999582	0.50061	D	2.755	0.80505	M	1.96	0.22270	T	-1.23	0.31170	N	0.23	0.25867	-1.1283	0.01865	T	0.086	0.33522	T	10	0.007098645	0.00161	T	0.020275	0.42842	T	0.177	0.44549	.	.	0.562875150688	0.55950	0.08509729497497982	0.08443	0.33767179458	0.35753	0.437681108713	0.30261	T	0.006553	0.05980	T	-0.418312	0.01753	T	-0.376703	0.36106	T	0.0518937704265915	0.05829	T	0.836316	0.50742	T	0.162351	0.36306	0.103670575	0.24880	0.162351	0.36306	0.103670575	0.24880	-2.975	0.09914	T	.	.	0.074	0.05103	B	.	.	4.242512	0.64330	24.7	0.99951904555326809	0.99951	0.92353	0.55515	D	AEFBI	0.614299	0.60167	D	0.399904150871398	0.61418	4.342557	0.385913687221664	0.60694	4.260069	0.685508698563358	0.22528	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.75	3.96	0.45097	3.885000	0.55896	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1346:0.0:0.8654:0.0	11.062	0.47169	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026741	0.020202	0.039402	0.038012	0.000000	0.025862	0.012346	0.000000	0.05	659.43	36	chr2	71149341	.	G	A	659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.099;DP=372;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.123;SOR=0.458	GT:AD:DP:GQ:PL	0/1:22,29:51:99:671,0,458	9	0	1	0
chr2	71613376	71613376	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon39:c.A4334G:p.D1445G,DYSF:NM_001130977:exon39:c.A4334G:p.D1445G,DYSF:NM_001130984:exon39:c.A4337G:p.D1446G,DYSF:NM_001130986:exon39:c.A4337G:p.D1446G,DYSF:NM_001130455:exon40:c.A4379G:p.D1460G,DYSF:NM_001130978:exon40:c.A4376G:p.D1459G,DYSF:NM_001130980:exon40:c.A4427G:p.D1476G,DYSF:NM_001130981:exon40:c.A4427G:p.D1476G,DYSF:NM_001130983:exon40:c.A4379G:p.D1460G,DYSF:NM_001130985:exon40:c.A4430G:p.D1477G,DYSF:NM_001130987:exon40:c.A4430G:p.D1477G,DYSF:NM_003494:exon40:c.A4376G:p.D1459G,DYSF:NM_001130979:exon41:c.A4469G:p.D1490G,DYSF:NM_001130982:exon41:c.A4472G:p.D1491G	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	134396	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.586	.	0.0085	0.0071885	0.0026	0.0296	0.0008	0	0	3.295e-05	0.0025	0	0.0022057	341	154602	rs61738567	0.0008	0.0008	0.0008	0.0007	0.0269	0.0007	0.0007	0.0255	0.0249	0.0269	0.0010	0	0	0	0.0016	2.338e-05	0.0018	0.0001	0.0072	0.0073	0.0074	0.0070	0.0254	0.0069	0.0067	0.0241	0.0236	0.0254	0	0.0022	0	0	0	0	4.412e-05	0.0038	0	0.016	0.68238	D	0.097	0.42086	T	0.876	0.56768	P	0.614	0.55432	P	0.000026	0.55875	D	0.154610	0.999998	0.58761	D	1.965	0.53209	M	-1.74	0.83413	D	-3.73	0.72710	D	0.721	0.79889	-0.3207	0.74402	T	0.297	0.66877	T	10	0.008868605	0.00201	T	.	.	.	0.586	0.83416	.	.	0.888138958936	0.88703	0.7704728392097046	0.76996	0.244393863738	0.26944	0.656758189201	0.60945	T	0.671646	0.90261	D	-0.263412	0.12505	T	-0.132225	0.60785	T	0.0121075448063824	0.00193	T	0.940906	0.78488	D	0.37207565	0.58738	0.36499894	0.61857	0.4468403	0.63842	0.32030356	0.57985	-8.734	0.67245	D	0.4997261397134889	0.57515	0.594	0.69954	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.026940	0.59515	24.1	0.99825681855310655	0.90764	0.99112	0.91402	D	AEFDBI	0.948011	0.95919	D	0.440068492497731	0.63642	4.601917	0.491600691547116	0.67432	5.083277	0.999999981687695	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	7.851000	0.85233	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	13.168	0.59004	428	0.80967	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	639.43	35	chr2	71613376	.	A	G	639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.806;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.31;SOR=0.717	GT:AD:DP:GQ:PL	0/1:47,29:76:99:651,0,1159	9	0	1	0
chr2	94871899	94871899	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.G320A:p.R107H	.	423	1087	12	0	0	12	0.00548948	.	.	.	2812081	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	.	0.0045	0.00319489	0.0072	0.0018	0.0025	0	0.0112	0.0096	0.0196	0.0060	0.0053169	822	154602	rs74673300	0.0078	0.0078	0.0078	0.0079	0.0088	0.0077	0.0077	0.0087	0.0086	0.0012	0.0024	0.0003	2.542e-05	0.0067	0.0075	0.0088	0.0080	0.0065	0.0053	0.0053	0.0051	0.0054	0.0083	0.0050	0.0048	0.0078	0.0075	0.0014	0.0263	0.0026	0	0.0002	0.0073	0	0.0083	0.0043	0.0050	0.767	0.03412	T	0.098	0.39040	T	0.691	0.41647	P	0.126	0.32692	B	0.038520	0.24278	N	0.384046	0.87021	0.28218	N	1.285	0.32305	L	4.14	0.02839	T	-1.3	0.32590	N	0.239	0.26957	-0.9077	0.47133	T	0.004	0.01295	T	10	0.0041588843	0.00082	T	.	.	.	0.072	0.21020	.	.	0.202086224978	0.19791	0.12697277987031708	0.12623	0.0508129208446	0.05582	0.661848664284	0.61674	T	0.018513	0.14910	T	-0.530605	0.00381	T	-0.525559	0.19733	T	0.00455010496487298	0.00049	T	0.693531	0.30321	T	0.06156582	0.12764	0.06961716	0.14691	0.06156582	0.12763	0.06961716	0.14691	-5.423	0.41140	T	.	.	0.075	0.05535	B	.	.	2.274328	0.29073	18.01	0.91063787544948394	0.20316	0.06532	0.12544	N	AEFDGBHI	0.039495	0.05745	N	-0.847915023401306	0.12101	0.5878423	-0.941391720520003	0.11123	0.5647563	0.942643753132318	0.27531	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	0.911	0.18471	0.743000	0.25899	0.329000	0.17264	0.486000	0.22242	0.183000	0.24101	0.010000	0.20010	0.282000	0.24066	0.1754:0.0:0.8246:0.0	6.357	0.20613	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.009109	0.000000	0.006793	0.011696	0.000000	0.025862	0.009259	0.003788	0.05	1001.43	40	chr2	94871899	.	G	A	1001.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.952;DP=493;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.063;SOR=0.88	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1013,0,893	9	0	1	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:253,24:279:99:.:.:213,0,10964:.	2	0	8	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	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,35:322:99:0|1:94876631_G_T:606,0,11908:94876631	1	0	9	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	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,42:362:99:0|1:94876671_A_G:800,0,13271:94876671	1	0	9	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	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,42:365:99:0|1:94876671_A_G:791,0,13376:94876671	1	0	9	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	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:335,42:377:99:299,0,8511	2	0	8	0
chr2	95853744	95853744	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon85:c.G6211A:p.D2071N	.	576	938	8	0	0	8	0.00424628	.	.	.	2812089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	.	.	0.00339457	0.0109	0.0022	0.0103	0	0.0139	0.0162	0.0283	0.0060	0.0040879	632	154602	rs200478637	0.0079	0.0078	0.0079	0.0078	0.0089	0.0077	0.0077	0.0088	0.0087	0.0012	0.0020	0.0002	2.55e-05	0.0070	0.0061	0.0089	0.0076	0.0060	0.0050	0.0050	0.0049	0.0050	0.0082	0.0047	0.0046	0.0076	0.0074	0.0013	0.0011	0.0021	0	0.0002	0.0076	0.0034	0.0082	0.0038	0.0054	0.042	0.41637	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35031	T	-3.32	0.66085	D	0.114	0.10198	-1.0126	0.26101	T	0.067	0.27606	T	7	0.007240534	0.00165	T	.	.	.	0.042	0.11227	.	.	0.148003135375	0.14442	0.006613167483073264	0.00629	.	.	.	.	.	0.009109	0.08314	T	-0.638495	0.00085	T	-0.681969	0.06864	T	0.0275934983580231	0.01629	T	0.506949	0.16072	T	0.12760265	0.29856	0.15584525	0.36514	0.12760265	0.29856	0.15584525	0.36513	-2.763	0.07847	T	.	.	0.125	0.39714	B	.;.	.;.	2.340906	0.30003	18.30	0.96583531233881226	0.30344	0.08706	0.14596	N	AEFI	0.034489	0.04281	N	-0.414433744048988	0.24963	1.351654	-0.524165838693188	0.21497	1.163222	8.80255561803755E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	2.19	-0.102	0.12951	1.569000	0.36037	0.346000	0.17429	0.284000	0.18682	0.721000	0.28831	0.000000	0.08366	0.027000	0.12703	0.0:0.509:0.2968:0.1942	2.951	0.05502	256	0.89942	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	426.43	35	chr2	95853744	.	C	T	426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=364;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=0.45;QD=8.05;ReadPosRankSum=1.21;SOR=1.002	GT:AD:DP:GQ:PL	0/1:33,20:53:99:438,0,760	9	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:181,53:234:99:962,0,4586	0	0	10	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	.	.	.	.	.	.	.	.	0.25	2496.4	201	chr2	95855406	.	C	G	2496.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.676;DP=2375;ExcessHet=2.8389;FS=5.12;InbreedingCoeff=-0.3061;MLEAC=4;MLEAF=0.2;MQ=53.72;MQRankSum=-6.642;QD=2.08;ReadPosRankSum=-2.045;SOR=1.277	GT:AD:DP:GQ:PL	0/1:234,25:259:2:2,0,6641	5	0	5	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	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:136,122:258:99:2745,0,3625	0	0	10	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	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:135,75:210:99:1997,0,3651	0	0	10	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	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:175,23:198:99:232,0,6724	2	0	8	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	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:134,57:191:99:1425,0,3661	0	0	10	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	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,15:51:99:.:.:480,0,1462:.	3	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:95859969_A_AT:750,0,2890:95859969	0	0	10	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	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,24:96:99:0|1:95859969_A_AT:750,0,2890:95859969	0	0	10	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	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,22:94:99:0|1:95859969_A_AT:707,0,2896:95859969	0	0	10	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	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:71,21:92:99:615,0,1836	0	0	10	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	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,19:89:99:0|1:95860002_T_A:587,0,2862:95860002	0	0	10	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	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,19:88:99:0|1:95860002_T_A:590,0,2840:95860002	0	0	10	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	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:99:0|1:95860020_G_A:546,0,2717:95860020	0	0	10	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	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,17:83:99:0|1:95860020_G_A:515,0,2720:95860020	0	0	10	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	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,9:66:99:.:.:207,0,1605:.	1	0	9	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	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,23:113:99:0|1:95927222_G_GAT:695,0,3689:95927222	0	0	10	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	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,31:129:99:0|1:95927222_G_GAT:1007,0,4001:95927222	0	0	10	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	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,41:146:99:0|1:95927222_G_GAT:1406,0,4286:95927222	0	0	10	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	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,74:203:99:0|1:95927222_G_GAT:2719,0,5194:95927222	0	0	10	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	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,93:228:99:0|1:95927222_G_GAT:3499,0,5368:95927222	0	0	10	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	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,94:235:99:0|1:95927222_G_GAT:3502,0,5522:95927222	0	0	10	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	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,45:161:99:0|1:95929092_T_C:1497,0,4632:95929092	0	0	10	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	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,49:176:99:0|1:95929092_T_C:1675,0,5165:95929092	0	0	10	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	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,65:203:99:0|1:95929092_T_C:2314,0,5599:95929092	0	0	10	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	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,67:204:99:0|1:95929092_T_C:2401,0,5551:95929092	0	0	10	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	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,68:201:99:0|1:95929092_T_C:2446,0,5380:95929092	0	0	10	0
chr2	96023428	96023428	G	A	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon17:c.C1714T:p.R572W,GPAT2:NM_001321530:exon17:c.C1696T:p.R566W,GPAT2:NM_001321525:exon18:c.C1927T:p.R643W,GPAT2:NM_001321526:exon18:c.C1927T:p.R643W,GPAT2:NM_001321527:exon18:c.C1927T:p.R643W,GPAT2:NM_001321528:exon18:c.C1927T:p.R643W,GPAT2:NM_207328:exon18:c.C1909T:p.R637W	.	419	1077	26	0	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.236313734747	0.0013	0.00219649	0.0023	0.0002	0.0005	0	0.0003	0.0027	0.0022	0.0053	0.0021151	327	154602	rs200494170	0.0025	0.0025	0.0023	0.0027	0.0068	0.0024	0.0024	0.0058	0.0056	0.0004	0.0004	0.0026	5.038e-05	0.0004	0.0068	0.0025	0.0026	0.0062	0.0019	0.0019	0.0019	0.0018	0.0066	0.0017	0.0016	0.0048	0.0042	0.0004	0	0.0009	0.0029	0	0.0003	0.0068	0.0030	0.0014	0.0066	0.025	0.49117	D	0.012	0.63918	D	0.038	0.23653	B	0.01	0.15521	B	0.175141	0.17260	N	0.598876	1	0.81001	D	2.14	0.59869	M	-1.13	0.77719	T	-2.13	0.48354	N	0.288	0.32591	-0.6271	0.63693	T	0.245	0.61331	T	10	0.0079962015	0.00181	T	0.236314	0.88494	D	0.244	0.55061	.	.	0.684805705286	0.68211	0.24416334672272652	0.24330	1.16178190297	0.79509	0.394804805517	0.24345	T	0.022516	0.17347	T	-0.315594	0.07264	T	-0.223909	0.52359	T	0.0303656412644803	0.02046	T	0.793221	0.43505	T	0.06585315	0.14113	0.09652142	0.22937	0.06585315	0.14112	0.09652142	0.22937	-4.513	0.31058	T	.	.	0.085	0.10400	B	.;.;.	.;.;.	1.234254	0.16293	12.45	0.9948997075661955	0.67403	0.73598	0.36000	D	AEFDGBI	0.398685	0.47427	N	-0.329723344391948	0.28025	1.542328	-0.23194115769066	0.30398	1.711248	0.487886500102385	0.20838	0.533608	0.22052	0	0.615948	0.52940	0	0.514364	0.09456	0	0.638833	0.57524	0	.	.	5.44	4.55	0.55429	0.950000	0.28720	0.803000	0.21677	-0.145000	0.12313	0.174000	0.23986	0.200000	0.23563	0.011000	0.09372	0.0:0.0:0.8237:0.1763	11.693	0.50789	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	0.004532	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.015152	0.05	1347.43	39	chr2	96023428	.	G	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=478;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.005;SOR=0.838	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1359,0,1569	9	0	1	0
chr2	96551460	96551460	G	A	exonic	ARID5A	.	nonsynonymous SNV	ARID5A:NM_001319093:exon6:c.G440A:p.R147Q,ARID5A:NM_001319096:exon6:c.G440A:p.R147Q,ARID5A:NM_001319085:exon7:c.G1094A:p.R365Q,ARID5A:NM_001319087:exon7:c.G1091A:p.R364Q,ARID5A:NM_001319092:exon7:c.G728A:p.R243Q,ARID5A:NM_001319094:exon7:c.G440A:p.R147Q,ARID5A:NM_212481:exon7:c.G932A:p.R311Q	.	12	1490	19	1	0	21	0.00699767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0077247946636	0.0002	0.000998403	0.0021	0.0005	0	0	0	0.0004	0.0023	0.0081	0.0009185	142	154602	rs202219610	0.0007	0.0007	0.0005	0.0009	0.0067	0.0006	0.0006	0.0063	0.0061	6.088e-05	0.0002	0.0026	2.607e-05	0	0.0030	0.0002	0.0008	0.0067	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0003	0.0043	0.0037	4.813e-05	0	0.0004	0.0026	0.0002	0	0	0.0003	0.0014	0.0060	0.912	0.02407	T	0.681	0.06762	T	0.001	0.07471	B	0.003	0.08700	B	0.524851	0.05223	N	1.299680	1	0.08975	N	0.425	0.12573	N	-0.1	0.64264	T	-0.03	0.07444	N	0.052	0.03175	-1.0449	0.15854	T	0.100	0.37290	T	10	0.0034110546	0.00060	T	0.007725	0.20483	T	0.046	0.12618	.	.	0.386522206555	0.38262	0.08060890171235377	0.07995	0.163533553408	0.18441	0.211388140917	0.00871	T	0.013025	0.11342	T	-0.565486	0.00235	T	-0.581472	0.14415	T	0.000941750006319852	0.00009	T	0.663534	0.27241	T	0.012754522	0.00041	0.02262769	0.00284	0.012754522	0.00041	0.02262769	0.00284	-3.529	0.16840	T	.	.	0.067	0.03964	B	.;.	.;.	-0.105963	0.03606	0.708	0.85316935220186529	0.15817	0.16084	0.19223	N	AEFBCI	0.069084	0.13659	N	-1.27119278921302	0.04026	0.1809841	-1.17909938010335	0.06259	0.3007581	0.999655942333059	0.41424	0.706548	0.73137	0	0.697927	0.68747	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.59	0.287	0.14965	-1.108000	0.03423	-0.878000	0.07076	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.685000	0.33688	0.5588:0.0:0.4412:0.0	6.639	0.22089	207	0.91931	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006085	0.005155	0.006831	0.005917	0.000000	0.008621	0.003086	0.011364	0.05	411.43	33	chr2	96551460	.	G	A	411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.732;DP=291;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.928;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,16:35:99:0|1:96551460_G_A:423,0,526:96551460	9	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,11:91:99:0|1:97185336_GC_G:221,0,3326:97185336	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,11:91:99:0|1:97185336_GC_G:221,0,3326:97185336	2	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,11:93:99:0|1:97185336_GC_G:215,0,3410:97185336	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,11:93:99:0|1:97185336_GC_G:215,0,3410:97185336	2	0	8	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,49:97:99:0|1:97513219_T_C:1913,0,1868:97513219	0	0	10	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	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,51:101:99:0|1:97513219_T_C:1991,0,1946:97513219	0	0	10	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	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,65:118:99:0|1:97513244_G_T:2570,0,1960:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,68:121:99:0|1:97513244_G_T:2696,0,2004:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,68:121:99:0|1:97513244_G_T:2696,0,2004:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,78:133:99:0|1:97513268_C_T:3110,0,2075:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,79:134:99:0|1:97513268_C_T:3147,0,2072:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,79:134:99:0|1:97513268_C_T:3147,0,2072:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,80:136:99:0|1:97513268_C_T:3151,0,2090:97513268	0	0	10	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	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1093,0,649	0	0	10	0
chr2	107872884	107872884	T	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon20:c.T4880C:p.M1627T	.	151	1361	10	0	0	10	0.00366032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00183635641556	.	.	0.0011	0.0009	0.0005	0.0043	0	0.0003	0	0.0034	3.84e-05	1	26028	rs201588510	0.0007	0.0007	0.0005	0.0008	0.0053	0.0006	0.0006	0.0036	0.0032	0.0007	0.0003	0	0.0016	0	0.0053	0.0004	0.0007	0.0037	0.0003	0.0007	0.0003	0.0003	0.0014	0.0002	0.0002	0.0006	0.0004	0.0005	0	8.098e-05	0	0.0014	0	0	0.0002	0.0006	0.0014	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	1.22	0.37052	T	1.35	0.00889	N	0.035	0.01004	-0.9923	0.32012	T	0.025	0.10733	T	9	0.004611522	0.00096	T	0.001836	0.03167	T	0.041	0.10877	0.139	0.04277	0.0138822411134	0.00435	0.03637421827690041	0.03584	.	.	0.333091080189	0.15401	T	0.001416	0.00874	T	-0.354906	0.04427	T	-0.747574	0.03581	T	0.00370938999163125	0.00039	T	0.0842916	0.00619	T	0.049487047	0.08792	0.08095039	0.18356	0.049487047	0.08792	0.08095039	0.18356	-0.96	0.00956	T	.	.	0.054	0.00341	B	.	.	0.853677	0.12260	8.802	0.14606541904041104	0.00328	0.11499	0.16674	N	AEFI	0.028607	0.02550	N	-1.55868829667276	0.01484	0.06479897	-1.48024423659043	0.02506	0.1153927	1.20414177669338E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.18	0.922	0.18534	1.191000	0.31747	6.034000	0.52951	-0.765000	0.03488	0.994000	0.38300	1.000000	0.68203	0.457000	0.28051	0.5331:0.2451:0.0:0.2218	3.486	0.07183	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005089	0.000000	0.009669	0.000000	0.000000	0.000000	0.000000	0.008772	0.05	336.43	37	chr2	107872884	.	T	C	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.189;DP=380;ExcessHet=0;FS=8.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.49;MQRankSum=-4.483;QD=6.6;ReadPosRankSum=-0.52;SOR=2.636	GT:AD:DP:GQ:PL	0/1:34,17:51:99:348,0,1078	9	0	1	0
chr2	108499593	108499593	A	G	exonic	GCC2	.	nonsynonymous SNV	GCC2:NM_181453:exon22:c.A4823G:p.E1608G	.	552	969	1	0	0	1	0.00051573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0592287427453	0.0009	0.00119808	0.0027	0.0010	0	0	0	0.0045	0	0.0004	0.0004592	71	154602	rs200853100	0.0036	0.0044	0.0037	0.0035	0.0044	0.0035	0.0035	0.0043	0.0043	0.0005	0.0014	0.0007	0	0.0006	0.0007	0.0044	0.0034	0.0003	0.0028	0.0030	0.0029	0.0026	0.0051	0.0025	0.0024	0.0047	0.0045	0.0007	0.0011	0.0013	0.0009	0	0.0008	0	0.0051	0.0009	0.0008	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.99985	0.49910	D	2.42	0.70002	M	0.99	0.41750	T	-5.35	0.84742	D	0.497	0.53006	-0.7040	0.60246	T	0.220	0.58292	T	10	0.012599438	0.00270	T	0.059229	0.67594	D	0.250	0.55888	.	.	0.540925512045	0.53744	0.4792741386885838	0.47847	0.116543839344	0.13151	0.622075378895	0.56022	T	0.443539	0.78729	T	-0.332015	0.05960	T	-0.250213	0.49795	T	0.112031845767115	0.13632	T	0.935406	0.75832	D	0.64162785	0.74918	0.6150064	0.77591	0.64162785	0.74919	0.6150064	0.77592	-13.322	0.90646	D	.	.	0.363	0.57405	A	.	.	4.414364	0.68315	25.2	0.99917682218753212	0.98518	0.96987	0.72040	D	AEFI	0.705825	0.66109	D	0.560471928735239	0.70720	5.543428	0.497767047501749	0.67840	5.138445	0.759552531887755	0.23487	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	4.01	0.45821	7.006000	0.76078	7.886000	0.72778	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9238:0.0:0.0762:0.0	10.572	0.44394	904	0.23766	GCC2, Rab 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	0.001866	0.000000	0.000000	0.013158	0.000000	0.009091	0.000000	0.000000	0.05	320.43	34	chr2	108499593	.	A	G	320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.566;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.55;MQRankSum=-2.438;QD=2.18;ReadPosRankSum=0.353;SOR=0.646	GT:AD:DP:GQ:PL	0/1:119,28:147:99:332,0,2723	9	0	1	0
chr2	108763701	108763701	G	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.G3162T:p.Q1054H	.	1	1518	3	0	0	3	0.000987167	.	.	.	707648	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00413304255936	0.0032	0.00179712	0.0034	0.0013	0.0078	0	0.0020	0.0042	0.0033	0.0007	0.0031953	494	154602	rs141230513	0.0041	0.0041	0.0042	0.0041	0.0056	0.0040	0.0040	0.0051	0.0048	0.0006	0.0056	0.0003	0	0.0016	0.0014	0.0049	0.0029	0.0006	0.0029	0.0029	0.0034	0.0024	0.0051	0.0027	0.0026	0.0047	0.0045	0.0007	0	0.0027	0.0003	0	0.0007	0.0034	0.0051	0.0043	0.0012	0.051	0.39334	T	0.116	0.36497	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	0.993228	0.41873	D	0.83	0.20963	L	1.5	0.31205	T	-2.4	0.52776	N	0.103	0.08646	-1.0201	0.23682	T	0.024	0.10013	T	9	0.0045781434	0.00095	T	0.004133	0.09900	T	0.049	0.13647	0.11	0.02049	0.310597465726	0.30670	0.4595167391468343	0.45869	0.353701210671	0.37165	0.383305877447	0.22725	T	0.454044	0.79375	T	-0.592324	0.00162	T	-0.622655	0.10978	T	0.00608448766288202	0.00067	T	0.610839	0.23175	T	0.05668994	0.11188	0.078524195	0.17594	0.05668994	0.11187	0.078524195	0.17594	-5.561	0.42434	T	.	.	0.104	0.18705	B	.	.	1.630573	0.20816	14.92	0.83137274297631236	0.14562	0.79749	0.39579	D	AEFBCI	0.102685	0.20592	N	-0.970643373925936	0.09235	0.4362288	-0.907110762254219	0.11926	0.6105495	0.993750748637696	0.33341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-2.74	0.05582	0.196000	0.16979	1.002000	0.23268	-0.148000	0.12190	0.974000	0.34632	1.000000	0.68203	0.171000	0.21011	0.1694:0.1734:0.3921:0.2651	2.051	0.03355	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2875.43	33	chr2	108763701	.	G	T	2875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.067;DP=508;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=0.076;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,75:148:99:0|1:108763701_G_T:2887,0,2808:108763701	9	0	1	0
chr2	108763702	108763702	C	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C3163T:p.P1055S	.	1	1518	3	0	0	3	0.000987167	.	.	.	707649	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00790727812728	0.0032	0.00179712	0.0034	0.0013	0.0078	0	0.0020	0.0042	0.0033	0.0007	0.0031953	494	154602	rs140860785	0.0041	0.0041	0.0042	0.0041	0.0056	0.0040	0.0040	0.0051	0.0048	0.0006	0.0056	0.0003	0	0.0016	0.0014	0.0049	0.0029	0.0006	0.0029	0.0029	0.0034	0.0024	0.0051	0.0027	0.0026	0.0047	0.0045	0.0007	0	0.0027	0.0003	0	0.0007	0.0034	0.0051	0.0043	0.0012	0.237	0.17881	T	0.085	0.41074	T	0.004	0.12183	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	1.845	0.48678	L	1.6	0.28604	T	-3.22	0.64939	D	0.203	0.22486	-1.0344	0.19046	T	0.035	0.15160	T	9	0.0050112903	0.00108	T	0.007907	0.20981	T	0.059	0.16972	.	.	0.378867003059	0.37503	0.38347490461699546	0.38262	0.357429898638	0.37461	0.379311025143	0.22159	T	0.470808	0.80377	T	-0.535538	0.00356	T	-0.541087	0.18189	T	0.0175675291027529	0.00490	T	0.70223	0.31206	T	0.07593522	0.17142	0.17480835	0.39902	0.07593522	0.17141	0.17480835	0.39901	-4.574	0.31843	T	.	.	0.079	0.07365	B	.	.	2.090755	0.26594	17.17	0.67567793021033762	0.08393	0.80655	0.40237	D	AEFBCI	0.061777	0.11833	N	-0.662665526898338	0.17092	0.8766029	-0.536626903630308	0.21161	1.143489	0.999562884895511	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	3.94	0.44807	0.972000	0.29007	1.842000	0.29195	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.140000	0.19946	0.0:0.8668:0.0:0.1332	13.003	0.58090	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	2875.43	33	chr2	108763702	.	C	T	2875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.488;DP=508;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=-0.184;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,75:148:99:0|1:108763701_G_T:2887,0,2808:108763701	9	0	1	0
chr2	121397271	121397271	T	C	exonic	CLASP1	.	nonsynonymous SNV	CLASP1:NM_001142274:exon29:c.A2908G:p.I970V,CLASP1:NM_001207051:exon29:c.A2926G:p.I976V,CLASP1:NM_001378004:exon29:c.A2905G:p.I969V,CLASP1:NM_001378005:exon29:c.A2926G:p.I976V,CLASP1:NM_015282:exon29:c.A2992G:p.I998V,CLASP1:NM_001142273:exon30:c.A2932G:p.I978V,CLASP1:NM_001378003:exon30:c.A3013G:p.I1005V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00722867851433	.	.	8.682e-06	0	0	0	0	1.571e-05	0	0	6.5e-06	1	154602	rs745781521	6.159e-06	6.156e-06	6.809e-06	5.502e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	2.519e-05	0	0.0003	3.598e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18823	T	0.208	0.34359	T	0.12	0.26678	B	0.077	0.28532	B	0.000000	0.84330	N	0.045981	0.999984	0.54805	D	2.67	0.78151	M	-0.15	0.65192	T	-0.33	0.13035	N	0.232	0.27197	-0.9565	0.39825	T	0.144	0.46732	T	10	0.19645163	0.35537	T	0.007229	0.19171	T	0.057	0.16321	0.223	0.14665	0.501370866149	0.49774	0.1437219933307982	0.14295	0.327267955316	0.34864	0.723267316818	0.70522	T	0.052956	0.29308	T	-0.175445	0.24416	T	-0.320663	0.42502	T	0.176141515374184	0.18988	T	0.879412	0.59551	D	0.05371201	0.10204	0.07395489	0.16127	0.05371201	0.10204	0.07395489	0.16127	-8.457	0.64144	D	.	.	0.225	0.49117	B	.;.;.;.;.;.	.;.;.;.;.;.	3.167115	0.42937	21.6	0.97016732436935926	0.32006	0.97412	0.74585	D	AEFBI	0.494088	0.53003	N	-0.246276691635368	0.31252	1.750539	-0.0463330225562692	0.37649	2.207274	0.999565813717508	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	4.75	0.59954	5.152000	0.64727	6.214000	0.55048	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0721:0.0:0.9279	10.634	0.44745	974	0.05496	TOG domain;.;.;TOG domain;.;TOG 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	.	.	.	.	.	.	.	.	0.05	1412.43	33	chr2	121397271	.	T	C	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.19;SOR=0.759	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1424,0,1407	9	0	1	0
chr2	127624208	127624208	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon29:c.G3857A:p.R1286Q	.	.	.	.	.	.	.	.	.	.	.	4027358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.797	0.245767759653	8.2e-05	.	8.127e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs375117051	3.806e-05	4.583e-05	3.846e-05	3.765e-05	4.345e-05	2.994e-05	2.686e-05	3.365e-05	2.975e-05	3.025e-05	2.324e-05	0	0	0	0	4.345e-05	6.691e-05	1.205e-05	0	6.561e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.988	0.77976	D	0.000083	0.51296	D	0.133097	0.999994	0.58761	D	2.555	0.74557	M	-1.58	0.81987	D	-3.84	0.73151	D	0.672	0.96984	0.614	0.92078	D	0.719	0.90364	D	10	0.8640479	0.85639	D	0.245768	0.88900	D	0.797	0.93346	.	.	0.864110083268	0.86279	0.8017268491628023	0.80126	0.423899913073	0.42835	0.480816602707	0.36169	T	0.10568	0.72633	T	0.286976	0.81906	D	0.174444	0.81672	D	0.986036717891693	0.76859	D	0.999726	0.99933	D	0.7677439	0.81913	0.73143077	0.84130	0.7677439	0.81914	0.73143077	0.84131	-8.954	0.67400	D	.	.	0.090	0.23709	B	.;.;.;.	.;.;.;.	6.035501	0.94400	34	0.99950878387796926	0.99944	0.98165	0.80163	D	AEFBI	0.942045	0.94612	D	0.789691922232034	0.85456	8.581502	0.697606207165745	0.82198	7.707802	0.99999999999978	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.59	3.59	0.40253	9.497000	0.96954	5.772000	0.49749	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.086	0.80864	946	0.12043	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain;FERM domain|Band 4.1 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	.	.	.	.	.	.	.	.	0.05	1503.43	38	chr2	127624208	.	G	A	1503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.28;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.986;SOR=0.654	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1515,0,1835	9	0	1	0
chr2	131252997	131252997	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.G1676A:p.G559D	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0686340242042	.	.	2.015e-05	0	0	0	0.0005	0	0	0	6.5e-06	1	154602	rs201809555	2.463e-05	2.531e-05	2.996e-05	1.926e-05	0.0004	1.804e-05	1.601e-05	6.257e-05	2.582e-05	0	0	0	0	1.872e-05	0.0004	2.428e-05	4.972e-05	3.48e-05	1.32e-05	1.315e-05	1.29e-05	1.352e-05	6.556e-05	2.19e-06	8.2e-07	.	.	0	0	6.556e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.173	0.30143	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	-1.93	0.84842	D	-0.11	0.08653	N	0.081	0.05670	-0.8797	0.49786	T	0.306	0.67649	T	8	0.03947276	0.02440	T	0.068634	0.70505	D	0.157	0.40909	0.222	0.14518	0.171388866994	0.16791	0.0019335634069241809	0.00179	.	.	0.586339116096	0.50978	T	0.016866	0.13857	T	-0.29152	0.09484	T	-0.475614	0.24913	T	0.0450959080890132	0.04619	T	0.59724	0.23473	T	0.16037226	0.35973	0.19828093	0.43652	0.16037226	0.35973	0.19828093	0.43651	-7.328	0.56394	T	.	.	0.126	0.26545	B	.;.	.;.	0.864572	0.12371	8.909	0.95113844527397207	0.26204	0.00068	0.00484	N	AEFI	0.020858	0.00867	N	-1.65962233654192	0.00995	0.04314064	-1.78405808933216	0.00811	0.0362249	9.00505683457145E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-1.175000	0.03211	.	.	-1.385000	0.01156	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1003.43	33	chr2	131252997	.	G	A	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=556;ExcessHet=0;FS=3.307;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.84;MQRankSum=-3.141;QD=4.2;ReadPosRankSum=1.17;SOR=0.545	GT:AD:DP:GQ:PL	0/1:174,65:239:99:1015,0,3878	9	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1	123.64	212	chr2	131480177	.	G	A	123.64	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7.34;DP=1281;ExcessHet=0.2348;FS=55.935;InbreedingCoeff=-0.129;MLEAC=2;MLEAF=0.1;MQ=53.04;MQRankSum=-7.4;QD=0.31;ReadPosRankSum=-1.58;SOR=4.009	GT:AD:DP:GQ:PL	0/1:164,19:183:38:38,0,4483	8	0	2	0
chr2	134456738	134456738	C	T	exonic	TMEM163	.	nonsynonymous SNV	TMEM163:NM_030923:exon8:c.G848A:p.R283H	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0154061962065	.	0.000399361	0.0001	0	0	0.0001	0	0.0001	0	0.0003	0.0001035	16	154602	rs200812680	6.431e-05	6.567e-05	4.356e-05	8.527e-05	0.0010	5.362e-05	4.977e-05	0.0005	0.0003	8.961e-05	6.709e-05	0	7.558e-05	0	0.0010	3.957e-05	0.0001	0.0003	5.257e-05	5.251e-05	5.141e-05	5.378e-05	0.0006	2.557e-05	1.83e-05	0.0002	9.047e-05	2.408e-05	0	6.548e-05	0	0	0	0.0068	1.47e-05	0	0.0006	0.006	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	.	.	.	-1.28	0.32185	N	0.533	0.56145	-0.2275	0.76953	T	0.409	0.75789	T	9	0.20991892	0.37370	T	0.015406	0.36125	T	0.268	0.58254	.	.	0.132336055621	0.12781	0.8350601200674461	0.83466	1.73545229533	0.90791	0.653737306595	0.60516	T	0.038855	0.24988	T	-0.0459423	0.45060	T	0.0123866	0.71137	D	0.608170688152313	0.36726	D	0.919408	0.70943	D	0.25140172	0.48148	0.13980207	0.33345	0.25140172	0.48148	0.13980207	0.33344	-10.37	0.76097	D	.	.	0.152	0.33687	B	.	.	5.405049	0.90499	31	0.99954289376660688	0.99963	0.93697	0.58933	D	AEFDBCI	0.751748	0.69246	D	0.740158216887836	0.82261	7.719565	0.742549091514785	0.85601	8.629034	0.999999999999968	0.74766	0.651	0.46895	0	0.550933	0.16991	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	5.995000	0.70302	7.693000	0.65888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	19.235	0.93842	920	0.19381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	2168.43	37	chr2	134456738	.	C	T	2168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.335;DP=486;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.022;SOR=0.763	GT:AD:DP:GQ:PL	0/1:56,93:149:99:2180,0,1140	9	0	1	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H,MAP3K19:NM_001321177:exon7:c.T1189C:p.Y397H,MAP3K19:NM_025052:exon7:c.T1138C:p.Y380H	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	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	0	0	0	1	0	0	0	0.023162	0.005051	0.029891	0.026316	0.000000	0.017241	0.033537	0.015152	0.1	2758.14	33	chr2	134987734	.	A	G	2758.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.86;DP=870;ExcessHet=0.2348;FS=0.475;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.964;SOR=0.654	GT:AD:DP:GQ:PL	0/1:65,41:106:99:1103,0,1770	8	0	2	0
chr2	135780370	135780370	G	A	exonic	UBXN4	.	nonsynonymous SNV	UBXN4:NM_014607:exon12:c.G1373A:p.S458N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0077866832734	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140973089	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.398	0.15109	T	0.001	0.07471	B	0.002	0.06944	B	0.000003	0.62929	D	0.136523	0.658432	0.33029	D	1.12	0.28775	L	0.8	0.48769	T	0.16	0.05217	N	0.116	0.10483	-0.9344	0.43485	T	0.099	0.36907	T	10	0.0420624	0.02920	T	0.007787	0.20668	T	0.114	0.32008	0.203	0.11797	0.0675242888579	0.06100	0.5234706901296083	0.52271	0.311653327016	0.33471	0.385933190584	0.23095	T	0.022745	0.17484	T	-0.242719	0.15003	T	-0.586425	0.13976	T	0.258777022361755	0.23262	T	0.530647	0.17608	T	0.06982691	0.15331	0.11067004	0.26687	0.06982691	0.15331	0.11067004	0.26686	-5.406	0.40977	T	.	.	0.069	0.02993	B	.	.	2.314524	0.29634	18.18	0.97382931637954973	0.33681	0.63492	0.32106	D	AEFGBI	0.188325	0.31560	N	-0.275674969499948	0.30090	1.674628	-0.118357321585298	0.34649	1.99556	0.137800564911531	0.17215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	4.15	0.47978	1.335000	0.33444	1.769000	0.28618	0.618000	0.50648	0.987000	0.36337	0.999000	0.35428	0.999000	0.91618	0.2077:0.0:0.7923:0.0	10.279	0.42708	282	0.88846	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	96.14	34	chr2	135780370	.	G	A	96.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.337;DP=409;ExcessHet=0.2348;FS=35.007;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.41;SOR=5.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,12:39:43:0|1:135780370_G_A:43,0,674:135780370	8	0	2	0
chr2	140487655	140487655	G	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon58:c.C9205T:p.R3069C	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.0516909741558	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs747167577	6.184e-06	6.157e-06	4.103e-06	8.283e-06	3.496e-05	2.91e-06	2.11e-06	9.29e-06	4.58e-06	0	0	0	0	0	0	3.609e-06	3.33e-05	3.496e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.011	0.64786	D	0.999	0.77913	D	0.828	0.59497	P	0.000033	0.55875	U	0.068650	0.999146	0.46174	D	1.335	0.33326	L	-3.92	0.96078	D	-0.89	0.24026	N	0.479	0.51405	0.880	0.95401	D	0.867	0.95570	D	10	0.30924734	0.48413	T	0.051691	0.64767	D	0.621	0.85301	0.603	0.73466	0.28494636882	0.28116	0.6870152750793054	0.68641	0.799004479911	0.66158	0.729275524616	0.71400	T	0.170863	0.51876	T	0.0780011	0.61807	D	0.0564136	0.74007	D	0.902916133403778	0.55599	D	0.935106	0.75644	D	0.12319885	0.28933	0.11446054	0.27629	0.12319885	0.28933	0.11446054	0.27629	-11.783	0.83777	D	.	.	0.333	0.55431	B	.	.	4.861115	0.79544	27.1	0.99910074506484636	0.97949	0.93906	0.59534	D	AEFI	0.635325	0.61488	D	0.62991183464055	0.75073	6.242258	0.644065036817474	0.78168	6.822592	3.03551730925923E-4	0.06454	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	4.84	0.62125	3.910000	0.56084	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7863:0.2137	15.517	0.75562	955	0.09969	Domain of unknown function DUF5050	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	467.43	34	chr2	140487655	.	G	A	467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.506;DP=360;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-1.607;SOR=1.011	GT:AD:DP:GQ:PL	0/1:33,22:55:99:479,0,757	9	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,24:107:99:.:.:121,0,1541:.	7	0	3	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	.	.	.	.	.	.	.	.	0.3889	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/1:100,44:144:33:33,0,1656	2	0	7	1
chr2	159229846	159229846	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.A3817G:p.T1273A,TANC1:NM_001350063:exon25:c.A4051G:p.T1351A,TANC1:NM_001350064:exon27:c.A4399G:p.T1467A,TANC1:NM_033394:exon27:c.A4420G:p.T1474A,TANC1:NM_001350065:exon28:c.A4399G:p.T1467A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0285616019597	.	.	8.295e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs760067178	6.157e-06	6.156e-06	4.084e-06	8.251e-06	1.159e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.06735	T	0.896	0.03082	T	0.0	0.02946	B	0.0	0.01387	B	0.751978	0.09693	N	0.908929	1	0.08975	N	1.04	0.26193	L	-0.3	0.67874	T	-0.65	0.18877	N	0.042	0.01498	-1.0805	0.07252	T	0.104	0.38094	T	9	0.036940455	0.02019	T	0.028562	0.51215	D	0.138	0.37187	0.17	0.07536	0.152612264143	0.14878	0.15576892182136914	0.15497	0.143694538918	0.16225	0.242814078927	0.03049	T	0.058638	0.30898	T	-0.358213	0.04232	T	-0.570797	0.15377	T	0.0254992627054321	0.01339	T	0.49795	0.15494	T	0.031150103	0.02903	0.025660953	0.00620	0.031150103	0.02903	0.025660953	0.00619	-3.011	0.10300	T	.	.	0.056	0.00436	B	.	.	-0.843639	0.01024	0.043	0.22884852441160536	0.00942	0.04834	0.10563	N	AEFDBI	0.032277	0.03612	N	-1.41236893618702	0.02529	0.1118093	-1.54715018783421	0.01995	0.09116643	0.999999999992419	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.89	-11.8	0.00026	-0.409000	0.07223	-1.284000	0.05818	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.095:0.4817:0.2929:0.1304	7.012	0.24044	652	0.62785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3069.14	142	chr2	159229846	.	A	G	3069.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.91;DP=553;ExcessHet=0.2348;FS=9.831;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.63;SOR=1.208	GT:AD:DP:GQ:PL	0/1:74,45:119:99:1115,0,1950	8	0	2	0
chr2	177499691	177499691	A	G	exonic	AGPS	.	nonsynonymous SNV	AGPS:NM_003659:exon14:c.A1436G:p.Q479R	Rhizomelic chondrodysplasia punctata, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1916262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.369	0.0327014318388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	4.088e-06	0	0.0003	5.5e-07	1.5e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.03880	T	0.701	0.05707	T	0.026	0.19406	B	0.036	0.22909	B	0.000011	0.62929	D	0.150853	1	0.81001	D	0.865	0.21413	L	-1.68	0.82897	D	-0.7	0.19933	N	0.812	0.80767	-0.5376	0.67254	T	0.370	0.72963	T	10	0.6296334	0.68441	D	0.032701	0.54453	D	0.369	0.68844	0.578	0.70347	0.969898019403	0.96957	0.8732682407748598	0.87292	0.957870985297	0.72893	0.832472681999	0.86941	D	0.32926	0.69958	T	0.258081	0.79352	D	0.132939	0.79085	D	0.788033902645111	0.45561	D	0.872513	0.57956	D	0.23501198	0.46331	0.25617936	0.51314	0.23501198	0.46331	0.25617936	0.51313	-5.183	0.38768	T	0.09296873588620802	0.06066	0.126	0.26731	B	.	.	3.272839	0.44810	22.0	0.96569127895937179	0.30290	0.98408	0.82470	D	AEFBI	0.917018	0.88403	D	0.0326527013517078	0.43345	2.629267	0.269396913686126	0.53761	3.543479	0.99999983443423	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.99	5.99	0.97299	8.765000	0.91371	9.289000	0.79777	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.145	0.81374	709	0.56835	FAD-linked oxidase, 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	.	.	.	.	.	.	.	.	0.05	738.43	41	chr2	177499691	.	A	G	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.265;DP=414;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:40,36:76:99:750,0,862	9	0	1	0
chr2	178546467	178546467	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.G67669A:p.G22557S,TTN:NM_133432:exon171:c.G68044A:p.G22682S,TTN:NM_133437:exon171:c.G68245A:p.G22749S,TTN:NM_133378:exon291:c.G87160A:p.G29054S,TTN:NM_001256850:exon292:c.G89941A:p.G29981S,TTN:NM_001267550:exon342:c.G94864A:p.G31622S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	881749	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.0156708395737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385680314	2.054e-06	2.052e-06	2.724e-06	1.376e-06	2.523e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.523e-05	0	0	8.999e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.15823	T	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	-0.41	0.02942	N	0.11	0.61208	T	-3.37	0.73579	D	0.475	0.79310	-0.5000	0.68650	T	0.282	0.65419	T	9	0.23290831	0.40296	T	0.015671	0.36531	T	0.330	0.65226	0.385	0.40460	0.236890367714	0.23314	.	.	0.463496485926	0.45855	0.621686816216	0.55968	T	.	.	.	-0.0397531	0.45986	T	-0.294879	0.45264	T	0.783080078905042	0.45243	D	0.863414	0.55914	D	.	.	.	.	.	.	.	.	-3.604	0.17915	T	.	.	0.098	0.16054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.226476	0.43984	21.8	0.93951509485266727	0.24014	0.97811	0.77307	D	AEFBI	0.698830	0.65638	D	0.642078703756432	0.75859	6.380669	0.701103648894472	0.82462	7.773091	0.999999999999994	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	6.03	6.03	0.97798	4.944000	0.63262	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	20.567	0.99354	484	0.77165	.;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1292.43	33	chr2	178546467	.	C	T	1292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=476;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.403;SOR=0.572	GT:AD:DP:GQ:PL	0/1:75,51:126:99:1304,0,1871	9	0	1	0
chr2	181678581	181678581	C	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G280A:p.A94T	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.185104618644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.53072	D	0.609	0.39586	P	0.17	0.35299	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	-3.83	0.95794	D	-3.41	0.67129	D	0.482	0.51672	0.764	0.93967	D	0.839	0.94617	D	10	0.38633454	0.54568	T	0.185105	0.85791	D	0.514	0.79217	0.212	0.13066	0.973489430895	0.97320	0.29720361518298416	0.29633	0.492894575392	0.47914	0.768705010414	0.77230	T	0.778333	0.94125	D	0.243896	0.78027	D	0.112563	0.77741	D	0.981200635433197	0.73779	D	0.718228	0.33111	T	0.4986552	0.67017	0.56728184	0.74951	0.4986552	0.67017	0.56728184	0.74952	-9.882	0.73202	D	0.40084497278937786	0.49267	0.905	0.83126	P	.	.	4.524390	0.70963	25.6	0.99916718950499361	0.98449	0.02369	0.06743	N	AEFBHCI	0.962693	0.98437	D	0.568276493917839	0.71201	5.615123	0.671606235025357	0.80229	7.252605	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	7.852000	0.85247	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	132.3	34	chr2	181678581	.	C	T	132.3	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.956;DP=751;ExcessHet=0.2348;FS=177.639;InbreedingCoeff=-0.1538;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=2.45;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,12:99:3:0|1:181678581_C_T:3,0,3263:181678581	6	0	2	2
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	134.38	34	chr2	181678582	.	C	G	134.38	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.593;DP=729;ExcessHet=0.2348;FS=177.639;InbreedingCoeff=-0.2245;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=2.51;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,12:99:3:0|1:181678581_C_T:3,0,3263:181678581	4	0	2	4
chr2	181902132	181902134	AAG	-	exonic	ITPRID2	.	nonframeshift deletion	ITPRID2:NM_001287504:exon7:c.620_622del:p.E209del,ITPRID2:NM_001130445:exon8:c.1079_1081del:p.E362del,ITPRID2:NM_001287503:exon8:c.1079_1081del:p.E362del,ITPRID2:NM_006751:exon8:c.1079_1081del:p.E362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	5.81e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs776421195	8.693e-05	8.688e-05	8.579e-05	8.808e-05	0.0002	7.425e-05	6.973e-05	8.854e-05	8.24e-05	0	0	0	0	0	0.0002	0.0001	0.0001	1.163e-05	9.853e-05	9.849e-05	0.0001	9.411e-05	0.0002	6.005e-05	4.878e-05	0.0001	9.895e-05	2.412e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2630.39	33	chr2	181902131	.	AAAG	A	2630.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.168;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=1.25;SOR=0.737	GT:AD:DP:GQ:PL	0/1:57,67:124:99:2642,0,2191	9	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	443.45	47	chr2	186504215	.	G	A	443.45	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,8:20:23:.:.:23,0,140:.	4	0	4	2
chr2	189755501	189755501	A	G	exonic	OSGEPL1	.	nonsynonymous SNV	OSGEPL1:NM_001354347:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376077:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376078:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376079:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376080:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376081:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376082:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376083:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376097:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376098:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376099:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376100:exon3:c.T281C:p.I94T,OSGEPL1:NM_022353:exon3:c.T281C:p.I94T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.011811684432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.895e-07	6.84e-07	0	1.386e-06	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.30656	T	0.073	0.43159	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.050457	0.986384	0.40424	D	0.63	0.15941	N	0.93	0.44065	T	-2.38	0.54382	N	0.679	0.68603	-1.0786	0.07622	T	0.073	0.29515	T	10	0.5141675	0.62270	D	0.011812	0.29802	T	0.251	0.56024	0.7	0.83684	0.348324211639	0.34438	0.7319132541607184	0.73136	0.178462113079	0.20078	0.609115302563	0.54190	T	0.105002	0.41507	T	-0.0835018	0.39144	T	-0.357721	0.38315	T	0.895037472248077	0.54652	D	0.851615	0.53551	D	0.30168155	0.53055	0.26264593	0.52059	0.30168155	0.53055	0.26264593	0.52058	-5.432	0.42259	T	.	.	0.164	0.41480	B	.;.;.;.;.	.;.;.;.;.	3.784882	0.54441	23.5	0.95948747999416528	0.28264	0.98505	0.83492	D	AEFBI	0.889194	0.82303	D	-0.265840689192004	0.30476	1.699678	-0.066343519191984	0.36790	2.145664	0.999939626079273	0.46732	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	4.48	0.53973	8.809000	0.91566	9.325000	0.80080	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9316:0.0:0.0683:0.0	11.933	0.52142	765	0.49814	Gcp-like domain|Gcp-like domain;.;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-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	.	.	.	.	.	.	.	.	0.05	1152.43	34	chr2	189755501	.	A	G	1152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.821;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.912;SOR=0.608	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1164,0,1076	9	0	1	0
chr2	196718561	196718561	A	G	exonic	CCDC150	.	nonsynonymous SNV	CCDC150:NM_001353340:exon2:c.A149G:p.N50S,CCDC150:NM_001353339:exon13:c.A866G:p.N289S,CCDC150:NM_001080539:exon18:c.A1925G:p.N642S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00641227685747	.	.	1.677e-05	0	0	0	0	3.025e-05	0	0	1.29e-05	2	154602	rs749813391	7.526e-06	7.524e-06	4.084e-06	1.1e-05	0.0002	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0.0002	6.296e-06	1.657e-05	1.16e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.08	0.50132	T	0.021	0.58089	D	0.072	0.23997	B	0.015	0.17295	B	0.003892	0.34365	N	0.237616	1	0.08975	N	0	0.06538	N	0.89	0.45636	T	-0.49	0.27259	N	0.226	0.29889	-1.0477	0.15045	T	0.049	0.20789	T	10	0.08833024	0.15200	T	0.006412	0.16870	T	0.045	0.12272	0.086	0.00867	0.0138822411134	0.00435	0.04173846310242733	0.04118	0.0305988317187	0.03166	0.310817450285	0.12031	T	0.005067	0.16191	T	-0.375691	0.03316	T	-0.694565	0.06128	T	0.0579820610582829	0.06847	T	0.842916	0.51943	T	0.042099994	0.06324	0.054529574	0.09397	0.042099994	0.06324	0.054529574	0.09397	-6.132	0.47371	T	.	.	0.087	0.12037	B	.;.	.;.	1.110043	0.14954	11.46	0.91827322980910575	0.21137	0.36319	0.25506	N	AEFDBIJ	0.118848	0.23223	N	-0.772427056271578	0.14031	0.6957401	-0.701539202168258	0.16922	0.8974615	0.999992723299229	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.7	3.53	0.39533	2.130000	0.41687	5.781000	0.49805	0.756000	0.94297	0.604000	0.27780	1.000000	0.68203	0.001000	0.02609	0.8077:0.1923:0.0:0.0	8.678	0.33351	236	0.90801	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.003817	0.05	1047.43	35	chr2	196718561	.	A	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=420;ExcessHet=0;FS=2.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.639;SOR=1.015	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1059,0,1487	9	0	1	0
chr2	203126610	203126610	T	G	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon21:c.T2952G:p.I984M,NBEAL1:NM_001378026:exon22:c.T3039G:p.I1013M	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0147456941978	.	.	6.504e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs755153993	6.209e-05	6.156e-05	6.467e-05	5.942e-05	0.0011	5.136e-05	4.732e-05	0.0005	0.0003	3.287e-05	0	0	0	0	0.0011	5.996e-05	0.0002	0	5.91e-05	5.906e-05	2.57e-05	9.399e-05	0.0002	3.075e-05	2.209e-05	5.279e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	7.353e-05	0	0	1.0	0.00964	T	0.832	0.03695	T	0.463	0.36407	P	0.137	0.33328	B	.	.	.	.	0.954777	0.37893	D	1.415	0.35607	L	0.59	0.53943	T	-0.04	0.07590	N	0.3	0.33904	-1.0533	0.13493	T	0.093	0.35363	T	9	0.0771811	0.12150	T	0.014746	0.35069	T	0.211	0.50185	0.494	0.58206	0.304760801415	0.30091	0.3133861643463346	0.31251	0.183211065097	0.20607	0.46776214242	0.34373	T	0.00188	0.01299	T	-0.169402	0.25324	T	-0.291374	0.45630	T	0.0628062031554027	0.07602	T	0.80002	0.44558	T	0.05478616	0.10559	0.07314752	0.15862	0.05478616	0.10559	0.07314752	0.15861	-5.903	0.45461	T	.	.	0.095	0.14751	B	.	.	1.712687	0.21810	15.36	0.14243817718411644	0.00308	0.80964	0.40471	D	AEFGBI	0.205785	0.33211	N	-0.236737945060357	0.31635	1.775931	-0.128084747845538	0.34262	1.968926	1.9112163646902E-4	0.05898	0.651	0.46895	0	0.588066	0.40923	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.94	3.78	0.42629	0.356000	0.19918	1.840000	0.29181	-0.183000	0.09960	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.1875:0.0839:0.0:0.7286	5.705	0.17176	347	0.85595	Domain of unknown function DUF4704	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003401	0.010309	0.008197	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	441.43	33	chr2	203126610	.	T	G	441.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.89;DP=359;ExcessHet=0;FS=2.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.574;SOR=0.352	GT:AD:DP:GQ:PL	0/1:25,21:46:99:453,0,623	9	0	1	0
chr2	206445465	206445465	T	G	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon2:c.T373G:p.S125A	.	428	1075	19	0	0	19	0.0087598	.	.	.	697266	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.154	0.0180538436402	0.0082	0.00179712	0.0050	0.0047	0.0026	0	0.0002	0.0076	0.0044	0.0012	0.0049805	770	154602	rs112012170	0.0061	0.0061	0.0063	0.0060	0.0142	0.0060	0.0060	0.0117	0.0108	0.0044	0.0028	0.0095	0	0.0007	0.0142	0.0070	0.0066	0.0013	0.0058	0.0058	0.0060	0.0056	0.0074	0.0055	0.0054	0.0069	0.0067	0.0059	0.0011	0.0058	0.0072	0	9.434e-05	0.0136	0.0074	0.0057	0.0008	0.296	0.14694	T	0.096	0.40267	T	0.392	0.34646	B	0.173	0.35463	B	0.000764	0.41888	D	0.000000	0.994944	0.42480	D	1.5	0.37844	L	4.61	0.01851	T	-1.42	0.34992	N	0.477	0.51851	-0.9058	0.47355	T	0.006	0.02055	T	10	0.0100236535	0.00224	T	0.018054	0.39980	T	0.154	0.40340	.	.	0.256237801699	0.25221	0.28698604468155353	0.28611	0.246457987376	0.27182	0.552425503731	0.46200	T	0.152794	0.49335	T	-0.511479	0.00492	T	-0.500942	0.22251	T	0.0228014413347231	0.01000	T	0.769523	0.39899	T	0.08802651	0.20520	0.06453053	0.12947	0.08802651	0.20519	0.06453053	0.12947	-4.263	0.27655	T	.	.	0.090	0.16054	B	.;.	.;.	3.116238	0.42050	21.5	0.98204040563044281	0.39149	0.94652	0.61868	D	AEFDBI	0.523575	0.54712	D	-0.183656896248011	0.33816	1.922784	-0.0396415167583486	0.37942	2.228468	0.999996670099584	0.74766	0.706298	0.61202	0	0.383324	0.06291	0	0.383324	0.06259	0	0.613276	0.41899	0	.	.	5.95	4.78	0.60666	5.831000	0.69032	1.926000	0.29741	-0.171000	0.11205	1.000000	0.71638	0.994000	0.32194	0.978000	0.57271	0.1252:0.0:0.0:0.8748	12.517	0.55383	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.020380	0.017544	0.000000	0.017241	0.012195	0.000000	0.05	754.43	40	chr2	206445465	.	T	G	754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=455;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-0.012;SOR=0.922	GT:AD:DP:GQ:PL	0/1:78,37:115:99:766,0,1813	9	0	1	0
chr2	210203379	210203379	-	TTAAACATAACA	exonic	ACADL	.	nonframeshift insertion	ACADL:NM_001608:exon8:c.935_936insTGTTATGTTTAA:p.N312_Y313insVMFN	.	22	1494	5	1	0	7	0.00233723	.	.	.	3894916	Long_chain_acyl-CoA_dehydrogenase_deficiency	MONDO:MONDO:0020531,MedGen:C0220711	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0006	0.0007	0	0.0039	0.0024	0.0023	0.0022	0.0003458	9	26028	rs779456934	0.0067	0.0074	0.0069	0.0064	0.0075	0.0066	0.0065	0.0074	0.0073	0.0008	0.0024	0.0020	2.523e-05	0.0104	0.0010	0.0075	0.0059	0.0038	0.0051	0.0051	0.0051	0.0051	0.0074	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0074	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	701.39	36	chr2	210203379	.	G	GTTAAACATAACA	701.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=373;ExcessHet=0;FS=1.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.686;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,20:62:99:0|1:210203379_G_GTTAAACATAACA:713,0,1683:210203379	9	0	1	0
chr2	210203383	210203383	C	A	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon8:c.G932T:p.R311M	.	21	1495	5	1	0	7	0.00233567	.	.	.	433337	Long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0020531,MedGen:C0220711|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.738	0.228756806949	0.0005	.	0.0020	0.0006	0.0007	0	0.0041	0.0024	0.0023	0.0021	0.0015782	244	154602	rs377085604	0.0070	0.0074	0.0072	0.0067	0.0078	0.0068	0.0068	0.0077	0.0076	0.0007	0.0024	0.0021	0	0.0103	0.0010	0.0078	0.0062	0.0038	0.0051	0.0051	0.0051	0.0051	0.0075	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0075	0.0028	0.0027	0.061	0.37118	T	0.121	0.35840	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	-3.87	0.95922	D	-1.37	0.33998	N	0.802	0.79792	0.966	0.96631	D	0.895	0.96529	D	10	0.0887534	0.15311	T	0.228757	0.88153	D	0.738	0.90895	.	.	0.987845976444	0.98771	0.8277364911453763	0.82731	0.894564984557	0.70389	0.518029212952	0.41348	T	0.636253	0.88789	D	0.03605	0.56526	T	0.28148	0.87204	D	0.0219350821162778	0.00901	T	0.930707	0.74322	D	0.51036674	0.67700	0.4749106	0.69570	0.51036674	0.67701	0.4749106	0.69570	-4.36	0.29010	T	.	.	0.383	0.58593	A	.	.	4.917321	0.80965	27.4	0.93463359317222294	0.23252	0.93580	0.58606	D	ALL	0.900185	0.84541	D	0.636925684181711	0.75524	6.321442	0.643941750098315	0.78160	6.820752	0.999999999742513	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	5.599000	0.67280	4.864000	0.45499	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.244	0.93880	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	.	.	.	.	.	.	.	.	0.05	617.43	36	chr2	210203383	.	C	A	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=371;ExcessHet=0;FS=3.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.16;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,18:60:99:0|1:210203379_G_GTTAAACATAACA:629,0,1689:210203379	9	0	1	0
chr2	210203386	210203387	GT	-	exonic	ACADL	.	frameshift deletion	ACADL:NM_001608:exon8:c.928_929del:p.T310Qfs*5	.	18	1498	5	1	0	7	0.002331	.	.	.	799282	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0019	0.00179712	0.0020	0.0006	0.0007	0	0.0041	0.0024	0.0023	0.0022	0.0006916	18	26028	rs549315531	0.0070	0.0074	0.0072	0.0067	0.0078	0.0068	0.0068	0.0077	0.0076	0.0008	0.0025	0.0021	0	0.0104	0.0010	0.0078	0.0062	0.0038	0.0051	0.0051	0.0051	0.0051	0.0075	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0075	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	620.39	36	chr2	210203385	.	GGT	G	620.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=372;ExcessHet=0;FS=3.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.942;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,18:59:99:0|1:210203379_G_GTTAAACATAACA:632,0,1668:210203379	9	0	1	0
chr2	210656609	210656609	A	G	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon30:c.A3643G:p.I1215V,CPS1:NM_001122633:exon31:c.A3643G:p.I1215V,CPS1:NM_001369256:exon31:c.A3676G:p.I1226V,CPS1:NM_001369257:exon32:c.A3643G:p.I1215V	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	237339	Congenital_hyperammonemia,_type_I|Pulmonary_hypertension,_neonatal,_susceptibility_to|not_provided|not_specified	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.696	0.026614360004	0.0010	0.000199681	0.0015	0.0002	0.0027	0	0	0.0021	0.0022	0.0004	0.0014359	222	154602	rs141373204	0.0011	0.0011	0.0011	0.0012	0.0111	0.0011	0.0010	0.0089	0.0081	0.0002	0.0017	0.0147	2.519e-05	0	0.0111	0.0008	0.0029	0.0006	0.0013	0.0012	0.0014	0.0011	0.0024	0.0011	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0171	0	0	0.0315	0.0009	0.0039	0.0017	0.012	0.54683	D	0.017	0.60972	D	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	N	0.046659	0.999316	0.46639	D	1.295	0.32453	L	-4.28	0.97126	D	-0.81	0.22294	N	0.281	0.31814	0.729	0.93531	D	0.844	0.94781	D	10	0.0088790655	0.00201	T	0.026614	0.49512	D	0.696	0.89007	.	.	0.852499549851	0.85108	0.7071783142122061	0.70659	0.202042824549	0.22620	0.478276997805	0.35819	T	0.671407	0.90251	D	-0.0158437	0.49444	T	0.191235	0.82640	D	0.0179974770087154	0.00524	T	0.779122	0.41282	T	0.57867557	0.71536	0.34298837	0.60017	0.63356006	0.74489	0.35052237	0.60660	-4.053	0.25157	T	0.1860674942653916	0.24202	0.112	0.26325	B	.;.;.	.;.;.	2.068265	0.26303	17.07	0.99799060945873042	0.88372	0.92144	0.55042	D	AEFBCI	0.943246	0.94884	D	0.284734331515722	0.55374	3.701525	0.375728509551874	0.60071	4.19087	0.720234988366096	0.22923	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	5.815000	0.68892	2.068000	0.30429	0.665000	0.62972	1.000000	0.71638	0.774000	0.26724	0.996000	0.76049	0.9211:0.0:0.0789:0.0	10.605	0.44578	427	0.81056	.;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	0.011078	0.020202	0.013587	0.017544	0.000000	0.017241	0.000000	0.003788	0.1	957.14	34	chr2	210656609	.	A	G	957.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.22;DP=437;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.632	GT:AD:DP:GQ:PL	0/1:33,30:63:99:605,0,681	8	0	2	0
chr2	218644562	218644562	A	C	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.T1954G:p.L652V,ZNF142:NM_001105537:exon8:c.T1954G:p.L652V,ZNF142:NM_001366290:exon8:c.T2554G:p.L852V,ZNF142:NM_001379662:exon8:c.T1954G:p.L652V,ZNF142:NM_001366287:exon9:c.T1465G:p.L489V,ZNF142:NM_001366288:exon9:c.T1465G:p.L489V,ZNF142:NM_001366289:exon9:c.T1465G:p.L489V,ZNF142:NM_001379659:exon9:c.T2554G:p.L852V,ZNF142:NM_001379660:exon9:c.T2554G:p.L852V,ZNF142:NM_001379661:exon9:c.T2554G:p.L852V	.	418	1083	20	1	0	22	0.0100548	.	.	.	1326413	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00442305680025	0.0015	0.00119808	0.0020	0	0.0019	0	0	0.0026	0.0067	0.0027	0.0018305	283	154602	rs143333715	0.0014	0.0014	0.0012	0.0016	0.0094	0.0014	0.0014	0.0074	0.0067	8.961e-05	0.0017	0.0180	2.519e-05	5.625e-05	0.0094	0.0009	0.0030	0.0029	0.0015	0.0015	0.0016	0.0014	0.0025	0.0013	0.0013	0.0014	0.0012	0.0002	0	0.0011	0.0208	0	0	0.0170	0.0016	0.0028	0.0025	0.388	0.10909	T	0.182	0.29249	T	0.003	0.11197	B	0.003	0.08700	B	0.217944	0.03433	N	1.520170	1	0.08975	N	2.24	0.63355	M	2.68	0.12371	T	-0.43	0.14390	N	0.03	0.00942	-0.9982	0.30423	T	0.021	0.08917	T	10	0.0034694374	0.00061	T	0.004423	0.10812	T	0.011	0.01250	.	.	0.170165803431	0.16609	0.12332654044926017	0.12258	0.282143982982	0.30676	0.263482987881	0.05312	T	0.006073	0.05507	T	-0.692563	0.00040	T	-0.770017	0.02768	T	0.00649898472731861	0.00073	T	0.564244	0.19889	T	0.032217294	0.03204	0.024453068	0.00465	0.032217294	0.03204	0.024453068	0.00465	-4.391	0.29435	T	.	.	0.079	0.07083	B	.;.	.;.	0.137727	0.05320	1.811	0.5116011999509128	0.04513	0.13994	0.18165	N	AEFDBCI	0.055968	0.10310	N	-1.56020170342882	0.01476	0.06441885	-1.62281560223325	0.01522	0.06894086	0.978243920260915	0.29902	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	5.33	-4.78	0.02975	-0.648000	0.05489	-0.548000	0.08544	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2572:0.3295:0.1994:0.2139	0.835	0.01065	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	0.000000	0.012228	0.008772	0.000000	0.008621	0.051829	0.015152	0.05	1015.43	79	chr2	218644562	.	A	C	1015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.052;DP=779;ExcessHet=0;FS=1.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.165;SOR=0.929	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1027,0,1218	9	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,60:104:99:.:.:2103,0,1545:.	4	2	4	0
chr2	237378986	237378986	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon4:c.G926A:p.G309D,COL6A3:NM_057165:exon5:c.G1529A:p.G510D,COL6A3:NM_057167:exon5:c.G1529A:p.G510D,COL6A3:NM_004369:exon6:c.G2147A:p.G716D	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	272678	Inborn_genetic_diseases|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.388	0.142767451627	0.0002	0.000399361	0.0004	0	8.646e-05	0	0	2.999e-05	0	0.0024	0.0002911	45	154602	rs144514259	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	6.708e-05	0	0	0	0.0003	2.338e-05	0.0003	0.0022	9.849e-05	9.844e-05	5.139e-05	0.0001	0.0021	6.002e-05	4.877e-05	0.0011	0.0009	4.812e-05	0	0	0	0	9.425e-05	0	2.94e-05	0	0.0021	0.063	0.39575	T	0.063	0.45110	T	0.991	0.64070	D	0.907	0.64423	P	0.340956	0.13964	N	0.617678	1	0.08975	N	1.355	0.33814	L	-2.08	0.86010	D	-1.14	0.39692	N	0.526	0.55540	-0.3019	0.74932	T	0.620	0.86618	D	10	0.020178616	0.00461	T	0.142767	0.82513	D	0.388	0.70440	.	.	0.853917324909	0.85251	0.720430042965903	0.71986	0.711923238635	0.61746	0.46800801158	0.34407	T	0.206701	0.56612	T	-0.273333	0.11389	T	-0.171567	0.57299	T	0.0585375623938364	0.06935	T	0.889711	0.65830	D	0.09700213	0.22858	0.10164689	0.24340	0.09700213	0.22857	0.10164689	0.24339	-5.743	0.44074	T	.	.	0.153	0.36295	B	.;.;.;.;.	.;.;.;.;.	2.570918	0.33311	19.30	0.99632821243552139	0.76142	0.12719	0.17439	N	AEFDBI	0.173534	0.30062	N	-0.0427885090560121	0.39926	2.362453	-0.0722095831181166	0.36543	2.128073	0.988867040400841	0.31652	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	3.67	0.41236	0.813000	0.26883	1.019000	0.23391	0.599000	0.40250	0.414000	0.26282	0.808000	0.27011	0.965000	0.52897	0.3302:0.392:0.2779:0.0	7.264	0.25396	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1884.43	34	chr2	237378986	.	C	T	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.264;DP=477;ExcessHet=0;FS=5.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.45;SOR=0.843	GT:AD:DP:GQ:PL	0/1:86,79:165:99:1896,0,2448	9	0	1	0
chr2	237821361	237821362	AC	-	exonic	RBM44	.	frameshift deletion	RBM44:NM_001080504:exon7:c.2113_2114del:p.H706Cfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0014	0.0006	0.0007	0	0	0.0028	0	0.0001	0.0002689	7	26028	rs529676431	0.0022	0.0023	0.0023	0.0020	0.0026	0.0021	0.0021	0.0025	0.0025	0.0004	0.0007	0	0	0.0012	0.0005	0.0026	0.0019	6.291e-05	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0002	0	0.0007	0	0	0.0010	0	0.0021	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	852.41	34	chr2	237821360	.	AAC	A	852.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.453;DP=294;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.781;SOR=0.708	GT:AD:DP:GQ:PL	0/1:11,10:21:99:382,0,423	7	0	3	0
chr2	241051747	241051747	G	A	exonic	SNED1	.	nonsynonymous SNV	SNED1:NM_001080437:exon13:c.G1739A:p.R580Q	.	.	.	.	.	.	.	.	.	.	.	3474629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.369	0.317184100735	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1026206217	7.402e-06	1.368e-05	5.804e-06	9.067e-06	3.441e-05	3.74e-06	2.73e-06	2.04e-06	1.34e-06	3.308e-05	3.441e-05	0	2.823e-05	0	0	5.681e-06	1.789e-05	0	3.286e-05	3.283e-05	3.855e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	4.74e-05	3.054e-05	0.0001	0	0	0	0	0	0	0	0	0	0.511	0.07473	T	0.09	0.40267	T	0.51	0.37313	P	0.037	0.23121	B	0.000151	0.49130	D	0.000000	0.971147	0.38849	D	1.905	0.50856	L	-3.44	0.94428	D	-1.06	0.33798	N	0.189	0.20660	0.118	0.84503	D	0.658	0.88125	D	10	0.2066932	0.36939	T	0.317184	0.91364	D	0.369	0.68844	0.382	0.39970	0.512421693248	0.50881	0.7027420167729547	0.70215	0.484744405385	0.47379	0.443802177906	0.31097	T	0.026135	0.19403	T	0.0530095	0.58730	T	-0.161632	0.58204	T	0.163191571831703	0.18104	T	0.734027	0.35731	T	0.046290733	0.07724	0.0448592	0.05907	0.046290733	0.07723	0.0448592	0.05907	-10.515	0.77778	D	.	.	0.098	0.16407	B	.;.;.	.;.;.	3.817660	0.55106	23.6	0.99645106835534314	0.76943	0.85419	0.44550	D	AEFBI	0.574663	0.57736	D	-0.0771070116963459	0.38398	2.248326	-0.00221938387653084	0.39616	2.351576	0.961585155076134	0.28564	0.651	0.46895	0	0.588066	0.40923	0	0.578056	0.29568	0	0.683762	0.67416	0	.	.	3.9	3.9	0.44240	3.467000	0.52842	2.749000	0.34521	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1884:0.0:0.8116:0.0	8.402	0.31751	974	0.05496	.;.;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	.	.	.	.	.	.	.	.	0.05	690.43	37	chr2	241051747	.	G	A	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.255;DP=373;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.11;SOR=0.235	GT:AD:DP:GQ:PL	0/1:18,31:49:99:702,0,395	9	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R,FARP2:NM_001282984:exon2:c.A134G:p.H45R,FARP2:NM_014808:exon2:c.A134G:p.H45R	.	427	1047	45	3	0	51	0.0237762	.	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM 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	0.009577	0.000000	0.002717	0.020468	0.000000	0.008621	0.012270	0.022727	0.05	2171.43	40	chr2	241373241	.	A	G	2171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.999;DP=520;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=1.6;SOR=0.628	GT:AD:DP:GQ:PL	0/1:69,90:159:99:2183,0,1512	9	0	1	0
chr3	5211148	5211148	A	G	exonic	EDEM1	.	nonsynonymous SNV	EDEM1:NM_014674:exon10:c.A1612G:p.I538V	.	438	1082	2	0	0	2	0.000923361	.	.	.	3248223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.00473422158117	0.0002	0.000199681	0.0002	0.0002	0.0005	0	0	0.0003	0	0	0.000194	30	154602	rs140135927	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0.0003	0.0003	0.0005	0.0001	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	2.405e-05	0	0.0005	0	0	0	0	0.0004	0.0005	0.0002	0.35	0.15098	T	0.344	0.17804	T	0.002	0.09854	B	0.021	0.19346	B	0.000000	0.84330	D	0.049308	0.990948	0.41272	D	0.625	0.15840	N	-0.58	0.71425	T	-0.01	0.07155	N	0.242	0.27316	-0.9322	0.43814	T	0.153	0.48222	T	10	0.046563268	0.03863	T	0.004734	0.11784	T	0.111	0.31313	.	.	0.72833840645	0.72592	0.2345095761432582	0.23365	0.220308387695	0.24570	0.589557409286	0.51432	T	0.127107	0.45393	T	-0.43752	0.01337	T	-0.476658	0.24803	T	0.0496705822739013	0.05443	T	0.907309	0.67223	D	0.04825177	0.08380	0.059128284	0.11043	0.04825177	0.08379	0.059128284	0.11043	-4.12	0.25584	T	.	.	0.068	0.03849	B	.;.	.;.	1.611056	0.20585	14.82	0.9861568151959772	0.43704	0.77611	0.38180	D	AEFDGBCI	0.143779	0.26656	N	-0.221445267091434	0.32255	1.817081	0.00729321057825877	0.40053	2.384263	0.999999034642494	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	4.421000	0.59598	4.531000	0.43726	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.8376:0.0:0.1624:0.0	7.703	0.27801	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1326.43	34	chr3	5211148	.	A	G	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.673;DP=463;ExcessHet=0;FS=1.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.31;SOR=0.824	GT:AD:DP:GQ:PL	0/1:80,65:145:99:1338,0,1922	9	0	1	0
chr3	9944076	9944076	G	A	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374318:exon10:c.G1235A:p.R412H,CRELD1:NM_001031717:exon11:c.G1223A:p.R408H,CRELD1:NM_001374317:exon11:c.G1235A:p.R412H	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	1440914	Atrioventricular_septal_defect,_susceptibility_to,_2|CRELD1-related_disorder|not_provided	MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.0241984779483	7.7e-05	0.000199681	3.297e-05	0	0	0	0	2.999e-05	0	0.0001	3.23e-05	5	154602	rs144715692	4.951e-05	5.078e-05	4.064e-05	5.697e-05	0.0007	3.581e-05	3.064e-05	0.0002	0.0001	0	6.857e-05	0	0	0	0.0007	3.276e-05	0.0002	0.0001	3.283e-05	3.281e-05	2.57e-05	4.027e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	6.535e-05	0	0	0	0	4.41e-05	0	0.0002	0.006	0.61437	D	0.052	0.47581	T	0.999	0.77913	D	0.994	0.82059	D	0.575825	0.05506	N	1.241650	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.96	0.25551	N	0.074	0.04790	-0.8121	0.54423	T	0.379	0.73602	T	8	0.10178816	0.18618	T	0.024198	0.47185	T	0.085	0.24743	.	.	0.651626734151	0.64872	0.4608305371477373	0.46001	0.207007681812	0.23137	0.228639647365	0.01869	T	.	.	.	-0.390723	0.02661	T	-0.596369	0.13119	T	0.226455420255661	0.21781	T	0.478252	0.14398	T	.	.	.	.	.	.	.	.	-4.45	0.30229	T	.	.	0.077	0.06617	B	.	.	0.419817	0.07906	4.609	0.99570754742706635	0.72379	0.04583	0.10232	N	AEFBCI	0.035384	0.04545	N	-0.454219724734801	0.23596	1.268301	-0.708099782398529	0.16759	0.8880684	0.844673769522771	0.24931	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	2.52	1.63	0.22882	-0.193000	0.09572	-0.016000	0.12991	-0.820000	0.02968	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.7154:0.2846:0.0	7.294	0.25559	628	0.65206	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.000000	0.05	1759.43	33	chr3	9944076	.	G	A	1759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.521;DP=428;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-0.414;SOR=0.854	GT:AD:DP:GQ:PL	0/1:34,74:108:99:1771,0,708	9	0	1	0
chr3	10238883	10238883	C	T	exonic	IRAK2	.	nonsynonymous SNV	IRAK2:NM_001570:exon12:c.C1609T:p.L537F	.	.	.	.	.	.	.	.	.	.	.	2677754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00676924917703	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs778357292	3.42e-06	3.42e-06	4.084e-06	2.75e-06	1.159e-05	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.245	0.24054	T	0.015	0.17086	B	0.01	0.14941	B	0.531868	0.11630	N	0.725365	1	0.08975	N	1.245	0.31408	L	0.62	0.53302	T	-0.81	0.22294	N	0.066	0.03841	-1.0335	0.19332	T	0.051	0.21650	T	10	0.02896896	0.01025	T	0.006769	0.17897	T	0.053	0.14996	0.202	0.11659	0.463928626847	0.46019	0.11690644286936248	0.11618	0.158782473299	0.17923	0.302913993597	0.10836	T	0.062079	0.31822	T	-0.325506	0.06458	T	-0.608489	0.12108	T	0.0809571444988251	0.10109	T	0.640436	0.25296	T	0.050650354	0.09184	0.061458316	0.11871	0.050650354	0.09184	0.061458316	0.11870	-4.847	0.35134	T	.	.	0.072	0.04080	B	.	.	1.792683	0.22787	15.76	0.98138679681395502	0.38580	0.02750	0.07434	N	AEFDBI	0.033003	0.03835	N	-1.0541724376188	0.07506	0.3488981	-1.04277389929676	0.08857	0.4376262	0.991194195215798	0.32405	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.39	-1.67	0.07798	0.185000	0.16767	0.132000	0.15059	0.599000	0.40250	0.042000	0.21073	0.046000	0.21717	0.949000	0.49496	0.2054:0.2847:0.1341:0.3759	0.674	0.00809	721	0.55360	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2344.43	35	chr3	10238883	.	C	T	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=562;ExcessHet=0;FS=2.862;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.201;SOR=0.905	GT:AD:DP:GQ:PL	0/1:144,102:246:99:2356,0,3556	9	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	994.1	208	chr3	15003967	.	C	G	994.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.547;DP=1799;ExcessHet=4.5998;FS=193.146;InbreedingCoeff=-0.431;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.99;SOR=11.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,47:198:99:0|1:15003967_C_G:120,0,4295:15003967	4	0	6	0
chr3	15427876	15427876	A	G	exonic	EAF1	.	nonsynonymous SNV	EAF1:NM_033083:exon1:c.A97G:p.I33V	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.023567522389	0.0031	0.00139776	0.0031	0.0016	0.0028	0	0	0.0039	0	0.0031	0.0008215	127	154602	rs41284029	0.0043	0.0041	0.0043	0.0042	0.0051	0.0042	0.0041	0.0050	0.0049	0.0004	0.0009	4.006e-05	0	0.0002	0.0007	0.0051	0.0035	0.0026	0.0027	0.0027	0.0031	0.0024	0.0050	0.0025	0.0024	0.0046	0.0044	0.0008	0	0.0014	0	0.0002	0.0002	0	0.0050	0.0019	0.0027	0.775	0.03335	T	0.901	0.03039	T	0.002	0.09854	B	0.009	0.14300	B	0.000028	0.55875	D	0.169663	0.999989	0.81001	D	0.605	0.15622	N	.	.	.	-0.48	0.15379	N	0.14	0.13911	-1.0440	0.16118	T	0.041	0.17742	T	9	0.015686184	0.00329	T	0.023568	0.46536	T	0.099	0.28413	.	.	0.329020015101	0.32502	0.3289002399547671	0.32803	0.268055281454	0.29334	0.600853145123	0.53024	T	0.014968	0.12641	T	-0.410661	0.01967	T	-0.361709	0.37855	T	0.0451778805539063	0.04635	T	0.711829	0.32321	T	0.12987062	0.30320	0.111531205	0.26903	0.12987062	0.30320	0.111531205	0.26903	-5.675	0.43470	T	.	.	0.150	0.33249	B	.	.	2.730905	0.35742	19.98	0.93829389964921317	0.23815	0.86087	0.45303	D	ALL	0.585406	0.58384	D	-0.450701202404842	0.23716	1.275533	-0.195866591035718	0.31689	1.795695	0.999999999999777	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.97	4.97	0.65419	3.764000	0.54977	8.887000	0.78351	0.632000	0.51917	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.9173:0.0:0.0827:0.0	9.079	0.35704	581	0.69614	Transcription elognation factor  Eaf, 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	0.000971	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007353	0.05	1064.43	39	chr3	15427876	.	A	G	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.54;SOR=0.684	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1076,0,494	9	0	1	0
chr3	23962277	23962277	A	G	exonic	NR1D2	.	nonsynonymous SNV	NR1D2:NM_001145425:exon5:c.A593G:p.E198G,NR1D2:NM_005126:exon5:c.A818G:p.E273G	.	.	.	.	.	.	.	.	.	.	.	2374969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0612595825636	7.7e-05	.	8.242e-05	0	0	0	0	2.999e-05	0	0.0005	7.12e-05	11	154602	rs148998610	7.114e-05	7.114e-05	6.67e-05	7.563e-05	0.0006	5.98e-05	5.588e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0003	4.406e-05	4.967e-05	0.0006	4.598e-05	4.596e-05	6.421e-05	2.689e-05	8.819e-05	2.108e-05	1.526e-05	3.761e-05	2.575e-05	2.411e-05	0	0	0	0	0	0	8.819e-05	0	0	0.576	0.06067	T	0.399	0.15059	T	.	.	.	.	.	.	0.002118	0.37227	N	0.247666	0.959904	0.38152	D	.	.	.	-2.98	0.92057	D	0.0	0.07008	N	0.164	0.17278	-0.0944	0.80227	T	0.567	0.84276	D	10	0.075339705	0.11631	T	0.06126	0.68274	D	0.296	0.61616	.	.	0.506648259107	0.50303	0.3031972513676221	0.30232	0.494886680505	0.48041	0.385944902897	0.23096	T	.	.	.	-0.159886	0.26778	T	-0.124711	0.61414	T	0.0670572161749833	0.08231	T	0.80002	0.44558	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01622	B	.	.	2.572387	0.33335	19.31	0.96751268785459565	0.30961	0.96501	0.69454	D	AEFBI	0.504143	0.53583	D	-0.248103854972133	0.31179	1.745726	-0.0331655431195634	0.38226	2.249186	0.999999998789959	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.500000	0.60108	9.282000	0.79722	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	1.0:0.0:0.0:0.0	16.205	0.81933	539	0.73055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1642.43	37	chr3	23962277	.	A	G	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=434;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.115;SOR=0.585	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1654,0,1364	9	0	1	0
chr3	31879751	31879751	C	T	exonic	OSBPL10	.	nonsynonymous SNV	OSBPL10:NM_001174060:exon2:c.G361A:p.V121I,OSBPL10:NM_017784:exon2:c.G361A:p.V121I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0105064374269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.063	0.51421	T	0.053	0.22573	B	0.158	0.34617	B	0.012366	0.29198	N	0.356432	0.999226	0.21485	N	0.73	0.18813	N	1.07	0.39586	T	-0.41	0.14000	N	0.084	0.14905	-1.0040	0.28755	T	0.078	0.30982	T	10	0.17858875	0.32951	T	0.010506	0.27131	T	0.044	0.11924	0.181	0.08877	0.476522311808	0.47281	0.11900547902639778	0.11827	0.252503775226	0.27817	0.332184016705	0.15264	T	0.012298	0.10832	T	-0.285127	0.10131	T	-0.647342	0.09141	T	0.14932407438755	0.17049	T	0.324568	0.09893	T	0.02426887	0.01242	0.037930585	0.03550	0.02426887	0.01241	0.037930585	0.03549	-7.267	0.58520	T	.	.	0.068	0.08948	B	.;.	.;.	1.983843	0.25203	16.68	0.98710564649699117	0.45040	0.63047	0.31968	D	AEFDBI	0.158172	0.28380	N	-0.37636581645168	0.26314	1.435152	-0.232722594718899	0.30371	1.709453	0.99994810130037	0.47345	0.706298	0.61202	0	0.610034	0.51514	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.51	3.71	0.41733	0.176000	0.16596	1.360000	0.25874	-0.171000	0.11205	0.741000	0.29037	1.000000	0.68203	0.605000	0.31514	0.1365:0.7209:0.0:0.1426	7.257	0.25358	933	0.16026	Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	942.43	34	chr3	31879751	.	C	T	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.944;DP=417;ExcessHet=0;FS=2.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.175;SOR=1.039	GT:AD:DP:GQ:PL	0/1:58,42:100:99:954,0,1331	9	0	1	0
chr3	33093621	33093621	G	A	exonic	TMPPE	.	nonsynonymous SNV	TMPPE:NM_001039770:exon2:c.C575T:p.T192I,TMPPE:NM_001136238:exon2:c.C164T:p.T55I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00256712409198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.22573	T	0.183	0.29153	T	0.087	0.24971	B	0.02	0.19048	B	0.011992	0.29328	N	0.278758	0.938759	0.26855	N	2.08	0.57402	M	.	.	.	-1.8	0.42384	N	0.28	0.34444	-0.9483	0.41263	T	0.142	0.46331	T	9	0.15204555	0.28727	T	0.002567	0.05178	T	0.085	0.24743	0.446	0.50466	0.0920862733494	0.08535	0.32099048826387	0.32012	0.371538377567	0.38651	0.582363128662	0.50418	T	0.182343	0.53432	T	-0.0336177	0.46888	T	-0.286066	0.46181	T	0.268876820802689	0.23699	T	0.692231	0.30167	T	0.11247521	0.26571	0.09512172	0.22545	0.11247521	0.26570	0.09512172	0.22544	-4.823	0.39566	T	.	.	0.179	0.39099	B	.;.	.;.	2.288518	0.29267	18.07	0.93864301649583171	0.23871	0.38874	0.26086	N	AEFBCI	0.156222	0.28154	N	-0.224831335546655	0.32117	1.807897	-0.170162697802872	0.32640	1.859023	0.999998334444427	0.74766	0.651	0.46895	0	0.577304	0.33150	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.87	5.87	0.94266	2.391000	0.44078	8.730000	0.78182	0.676000	0.76740	0.179000	0.24051	1.000000	0.68203	0.189000	0.21571	0.0:0.1443:0.8557:0.0	14.738	0.69047	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1427.43	34	chr3	33093621	.	G	A	1427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.451;DP=420;ExcessHet=0;FS=3.47;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.11;SOR=0.682	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1439,0,1432	9	0	1	0
chr3	38122294	38122294	G	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.G5026A:p.V1676M,DLEC1:NM_001321153:exon37:c.G5159A:p.S1720N,DLEC1:NM_007335:exon37:c.G5150A:p.S1717N	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	8	1511	3	0	0	3	0.000991736	.	.	.	2827257	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00534805604717	0.0037	0.000399361	0.0022	0.0009	0.0007	0	0.0006	0.0035	0	0.0004	0.0024579	380	154602	rs151322214	0.0043	0.0043	0.0044	0.0042	0.0053	0.0042	0.0042	0.0052	0.0052	0.0007	0.0013	0.0010	0	0.0002	0.0005	0.0053	0.0030	0.0003	0.0028	0.0028	0.0032	0.0023	0.0049	0.0025	0.0025	0.0045	0.0043	0.0009	0.0186	0.0010	0.0009	0	0.0006	0	0.0049	0.0028	0	0.407	0.10245	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	0.999993	0.58761	D	.	.	.	3.55	0.04746	T	0.25	0.04456	N	0.044	0.01658	-1.0374	0.18109	T	0.014	0.05608	T	8	0.0027976334	0.00044	T	0.005348	0.13710	T	0.014	0.01968	.	.	0.201204373187	0.19734	0.08908933884244485	0.08841	0.0968419405414	0.10932	.	.	.	0.001873	0.01289	T	-0.373227	0.03434	T	-0.306279	0.44058	T	0.0167101594953269	0.00428	T	0.444056	0.12368	T	0.04836885	0.08419	0.07312443	0.15855	0.04836885	0.08419	0.07312443	0.15855	-4.838	0.35031	T	.	.	0.076	0.05845	B	.	.	-0.420289	0.02138	0.205	0.79210677950195907	0.12639	0.08662	0.14559	N	AEFDBCI	0.041591	0.06344	N	-1.23154435786905	0.04548	0.2055207	-1.3460671426703	0.03852	0.1805493	0.999964445303807	0.48965	0.250623	0.04238	3	0.379588	0.06130	0	0.465395	0.07113	1	0.714379	0.83352	0	.	.	4.86	-5.26	0.02559	0.125000	0.15577	-0.829000	0.07263	-0.133000	0.13014	0.001000	0.13787	0.000000	0.08366	0.110000	0.18741	0.3388:0.408:0.1499:0.1033	3.344	0.06712	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1381.43	38	chr3	38122294	.	G	A	1381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.805;DP=474;ExcessHet=0;FS=2.149;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.518;SOR=0.516	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1393,0,2164	9	0	1	0
chr3	39066559	39066559	T	G	exonic	WDR48	.	nonsynonymous SNV	WDR48:NM_001303402:exon3:c.T34G:p.S12A,WDR48:NM_001346225:exon4:c.T280G:p.S94A,WDR48:NM_001346226:exon4:c.T109G:p.S37A,WDR48:NM_001346228:exon4:c.T70G:p.S24A,WDR48:NM_020839:exon4:c.T280G:p.S94A	.	424	1097	1	0	0	1	0.000455581	.	.	.	411557	not_provided|Hereditary_spastic_paraplegia|WDR48-related_disorder	MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.594	0.167530243253	0.0037	0.000798722	0.0029	0.0008	0.0055	0.0001	0.0008	0.0040	0.0033	0.0007	0.0030207	467	154602	rs148407227	0.0042	0.0042	0.0043	0.0041	0.0050	0.0041	0.0041	0.0049	0.0049	0.0008	0.0041	0.0003	7.568e-05	0.0011	0.0009	0.0050	0.0033	0.0007	0.0027	0.0027	0.0030	0.0024	0.0046	0.0025	0.0024	0.0042	0.0040	0.0012	0.0011	0.0018	0.0003	0	0.0009	0	0.0046	0.0024	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.55	0.74443	M	-0.76	0.73417	T	-2.95	0.62151	D	0.781	0.77789	0.062	0.83463	D	0.479	0.80083	T	10	0.016314894	0.00344	T	0.16753	0.84587	D	0.594	0.83857	.	.	0.790714886627	0.78876	0.5718591169191949	0.57113	1.96544580235	0.93519	0.819902181625	0.85013	D	0.339527	0.70866	T	-0.0695829	0.41394	T	0.129607	0.78869	D	0.0245267390246492	0.01211	T	0.954805	0.92496	D	0.79652643	0.83684	0.7119788	0.83007	0.79652643	0.83686	0.7119788	0.83008	-9.444	0.70510	D	.	.	0.901	0.82843	P	.;.	.;.	4.846582	0.79174	27.0	0.9934753764267874	0.60452	0.98962	0.89228	D	AEFGBI	0.897865	0.84052	D	0.819610155066899	0.87316	9.176026	0.818249424463514	0.91031	10.68547	0.99999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.940000	0.87153	7.879000	0.72397	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.576	0.84532	362	0.84826	WD40 repeat, conserved site|WD40-repeat-containing domain;WD40 repeat, conserved site|WD40-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1611.43	93	chr3	39066559	.	T	G	1611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.973;DP=696;ExcessHet=0;FS=3.318;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.729;SOR=0.433	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1623,0,1720	9	0	1	0
chr3	42407155	42407155	C	T	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon2:c.G97A:p.D33N,LYZL4:NM_144634:exon2:c.G97A:p.D33N	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0284085771074	0.0010	0.000599042	0.0008	0	0.0006	0	0	0.0011	0.0022	0.0010	0.0007956	123	154602	rs147770623	0.0009	0.0009	0.0009	0.0009	0.0021	0.0009	0.0008	0.0012	0.0011	5.974e-05	0.0008	0.0010	0	1.872e-05	0.0021	0.0010	0.0007	0.0014	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0007	0.0007	2.406e-05	0	0.0010	0.0012	0.0002	0	0.0034	0.0009	0	0.0008	0.207	0.19854	T	0.467	0.12351	T	0.874	0.48047	P	0.339	0.42346	B	0.716144	0.06286	N	1.171980	1	0.08975	N	0.965	0.23975	L	-0.34	0.68474	T	-1.29	0.32387	N	0.138	0.14905	-0.9724	0.36691	T	0.110	0.39699	T	10	0.019844532	0.00448	T	0.028409	0.51088	D	0.115	0.32236	.	.	0.53055931775	0.52705	0.5414465447138741	0.54069	0.371415197919	0.38641	0.309662997723	0.11857	T	0.007493	0.06893	T	-0.544158	0.00316	T	-0.567652	0.15665	T	0.0325634409265062	0.02399	T	0.740526	0.35940	T	0.038150117	0.05028	0.038871363	0.03853	0.038150117	0.05028	0.038871363	0.03852	-4.787	0.34440	T	.	.	0.086	0.10931	B	.;.	.;.	1.333518	0.17389	13.14	0.96299959750308783	0.29344	0.01800	0.05617	N	AEFDBI	0.044384	0.07134	N	-0.968900941945484	0.09273	0.4381938	-1.10569621612301	0.07591	0.3698242	0.0181487285619626	0.13026	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.04	-0.13	0.12839	-0.294000	0.08346	0.052000	0.14014	-0.934000	0.02129	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.1617:0.4274:0.3148:0.0962	3.369	0.06794	857	0.34089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1602.43	38	chr3	42407155	.	C	T	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=503;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.05;SOR=1.029	GT:AD:DP:GQ:PL	0/1:81,62:143:99:1614,0,1897	9	0	1	0
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L	.	421	1052	47	2	0	51	0.0236659	.	.	.	698156	not_provided|CELSR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	Likely benign	0	0	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	0.028701	0.010101	0.047554	0.020588	0.000000	0.017241	0.021341	0.022727	0.05	1815.43	36	chr3	48639758	.	G	A	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.545;DP=478;ExcessHet=0;FS=2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.36;SOR=0.535	GT:AD:DP:GQ:PL	0/1:79,76:155:99:1827,0,1946	9	0	1	0
chr3	52292342	52292342	A	G	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_145262:exon5:c.A788G:p.N263S	D-glyceric aciduria, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1400155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00333253302706	0.0002	.	9.099e-05	0.0002	8.663e-05	0	0	4.517e-05	0	0.0003	7.76e-05	12	154602	rs148349115	6.431e-05	6.43e-05	5.718e-05	7.151e-05	0.0005	5.362e-05	4.976e-05	0.0004	0.0003	0.0002	0.0002	0	5.038e-05	0	0.0005	2.248e-05	8.279e-05	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	0.683	0.06406	T	0.0	0.02946	B	0.004	0.10090	B	0.828489	0.09124	N	0.937593	0.999579	0.47641	D	.	.	.	1.06	0.39781	T	0.83	0.02480	N	0.168	0.17828	-1.0592	0.11956	T	0.076	0.30460	T	9	0.011096388	0.00244	T	0.003333	0.07421	T	0.071	0.20720	.	.	0.173771789658	0.16945	0.29059048901301426	0.28972	0.0808623515177	0.09103	0.355872184038	0.18783	T	0.016417	0.13572	T	-0.611092	0.00125	T	-0.75919	0.03142	T	0.00908952280949185	0.00114	T	0.754025	0.37642	T	0.020402124	0.00598	0.047066905	0.06697	0.020402124	0.00598	0.047066905	0.06697	-0.758	0.00767	T	0.05573958712249385	0.01256	0.059	0.01428	B	.;.;.	.;.;.	-1.338768	0.00406	0.008	0.54147784823581957	0.05080	0.10532	0.16013	N	AEFBCI	0.053031	0.09519	N	-1.42496403912975	0.02421	0.1068776	-1.48719248836718	0.02449	0.1126524	0.999999819678837	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.64	-7.64	0.01146	-0.256000	0.08778	-1.691000	0.04907	-0.641000	0.04447	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.3378:0.0:0.6622:0.0	18.790	0.91933	86	0.96395	MOFRL-associated domain;MOFRL-associated domain;MOFRL-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3268.43	35	chr3	52292342	.	A	G	3268.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.146;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.935;SOR=0.668	GT:AD:DP:GQ:PL	0/1:151,128:279:99:3280,0,4137	9	0	1	0
chr3	52691610	52691610	G	A	exonic	GNL3	.	nonsynonymous SNV	GNL3:NM_014366:exon9:c.G850A:p.V284I,GNL3:NM_206825:exon9:c.G814A:p.V272I,GNL3:NM_206826:exon9:c.G814A:p.V272I	.	431	1090	1	0	0	1	0.000458505	.	.	.	3678268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0042282363651	.	0.000199681	6.594e-05	0	8.646e-05	0	0	2.999e-05	0	0.0003	6.47e-05	10	154602	rs199735905	4.279e-05	5.133e-05	3.36e-05	5.2e-05	0.0005	3.394e-05	3.077e-05	0.0002	0.0002	0	0.0002	0	0	0	0.0005	2.038e-05	8.458e-05	0.0003	1.972e-05	1.97e-05	1.286e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.301e-05	3.033e-05	0	0	6.541e-05	0	0	0	0	0	0	0.0004	0.931	0.06802	T	0.214	0.26386	T	0.001	0.07471	B	0.008	0.13708	B	0.173187	0.17315	N	0.628717	1	0.08975	N	0.21	0.09513	N	2.56	0.13673	T	-0.61	0.18042	N	0.091	0.06990	-0.9773	0.35616	T	0.014	0.05705	T	10	0.0213072	0.00507	T	0.004228	0.10216	T	0.019	0.03383	0.451	0.51285	0.245101548738	0.24120	0.1887566774713285	0.18793	0.0847085784897	0.09572	0.282208025455	0.07802	T	0.060734	0.31465	T	-0.569086	0.00224	T	-0.744711	0.03695	T	0.0158301405608654	0.00371	T	0.671933	0.28305	T	0.032765698	0.03365	0.026064366	0.00677	0.032765698	0.03365	0.026064366	0.00676	-4.534	0.31330	T	.	.	0.066	0.03552	B	.;.	.;.	0.563537	0.09319	6.102	0.59309211200341505	0.06194	0.25502	0.22718	N	AEFDBCI	0.156349	0.28169	N	-1.05571334959074	0.07476	0.3474111	-0.98757380466231	0.10064	0.5045377	0.999585632518166	0.40607	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	-1.92	0.07203	0.372000	0.20199	0.379000	0.17760	-0.113000	0.14837	0.000000	0.06391	0.008000	0.19753	0.935000	0.47363	0.3413:0.1508:0.4215:0.0864	3.493	0.07206	28	0.98252	GTP binding domain|Circularly permuted (CP)-type guanine nucleotide-binding (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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1115.43	33	chr3	52691610	.	G	A	1115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.398;DP=412;ExcessHet=0;FS=3.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.516;SOR=0.864	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1127,0,1064	9	0	1	0
chr3	69118710	69118710	A	G	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon2:c.T1645C:p.Y549H,LMOD3:NM_001304418:exon3:c.T1645C:p.Y549H	Nemaline myopathy 10, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	.	519863	Nemaline_myopathy_10|not_provided	MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0273519647787	0.0007	0.000399361	0.0006	0.0008	0	0	0	0.0008	0.0012	0.0004	0.0004981	77	154602	rs200045981	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0005	0.0002	0.0002	0	3.747e-05	0.0009	0.0007	0.0004	0.0002	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0005	0.0005	0.0004	0.0011	0.0002	0	0	0	0	0.0007	0.0010	0	0.002	0.72154	D	0.197	0.27855	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	2.5	0.14408	T	-0.72	0.20358	N	0.726	0.72746	-1.0865	0.06138	T	0.102	0.37644	T	10	0.22268426	0.39027	T	0.027352	0.50169	D	0.244	0.55061	.	.	0.341460817117	0.33762	0.3829513849708383	0.38210	0.17845421502	0.20078	0.823028028011	0.85493	D	0.011465	0.10227	T	-0.262886	0.12565	T	-0.225808	0.52176	T	0.0399555110595396	0.03682	T	0.874313	0.58483	D	0.36696622	0.58360	0.345675	0.60246	0.36696622	0.58360	0.345675	0.60246	-4.235	0.27255	T	.	.	0.368	0.59606	A	.;.;.	.;.;.	4.389300	0.67730	25.1	0.99784524566619426	0.87131	0.98095	0.79555	D	AEFBI	0.900248	0.84556	D	0.761227929188055	0.83634	8.069072	0.755815340059471	0.86592	8.938514	0.999999999476414	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.84	5.84	0.93373	7.054000	0.76356	11.098000	0.86062	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	1.0:0.0:0.0:0.0	16.223	0.82095	373	0.84140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.006098	0.011364	0.05	1603.43	40	chr3	69118710	.	A	G	1603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=468;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.289;SOR=0.772	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1615,0,1154	9	0	1	0
chr3	74285470	74285470	C	T	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon19:c.G2539A:p.G847R	.	.	.	.	.	.	.	.	.	.	.	3304727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0150206924785	.	.	9.137e-05	0	0.0002	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs761438541	6.371e-05	6.43e-05	6.679e-05	6.059e-05	0.0004	5.302e-05	4.918e-05	0.0003	0.0002	0	0.0004	0	0	0	0.0003	4.05e-05	0.0001	0.0002	7.244e-05	7.227e-05	5.148e-05	9.44e-05	0.0002	3.98e-05	3.133e-05	5.304e-05	3.342e-05	0	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.033	0.44358	D	0.104	0.38160	T	0.0	0.02946	B	0.004	0.10090	B	0.007534	0.31343	N	0.367358	0.999999	0.08975	N	1.55	0.39271	L	0.32	0.58468	T	-0.21	0.10308	N	0.294	0.33250	-0.9320	0.43844	T	0.158	0.49027	T	10	0.1329433	0.25304	T	0.015021	0.35506	T	0.111	0.31313	0.576	0.70087	0.679415040988	0.67669	0.4750782146558895	0.47426	0.725708912501	0.62471	0.315173685551	0.12689	T	0.041441	0.25860	T	-0.364472	0.03884	T	-0.455339	0.27108	T	0.0689014993054024	0.08496	T	0.706729	0.31713	T	0.11484344	0.27108	0.102954894	0.24689	0.11484344	0.27108	0.102954894	0.24689	-5.862	0.45110	T	.	.	0.28	0.51314	B	.	.	2.629330	0.34189	19.56	0.99324739138689799	0.59546	0.39864	0.26308	N	AEFI	0.228672	0.35231	N	-0.389135137090858	0.25855	1.40665	-0.317849359856073	0.27521	1.527775	0.0399902159494241	0.14418	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	3.038000	0.49473	2.640000	0.33748	0.599000	0.40250	0.419000	0.26322	0.027000	0.21108	0.561000	0.30436	0.0:0.8678:0.1322:0.0	16.295	0.82595	933	0.16026	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1884.43	36	chr3	74285470	.	C	T	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.38;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.666;SOR=0.76	GT:AD:DP:GQ:PL	0/1:53,76:129:99:1896,0,1193	9	0	1	0
chr3	75665953	75665953	C	A	exonic	FRG2C	.	nonsynonymous SNV	FRG2C:NM_001124759:exon4:c.C761A:p.A254D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.440575189928	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364971682	4.558e-05	0.0033	4.398e-05	4.719e-05	4.537e-05	3.576e-05	3.353e-05	3.49e-05	3.149e-05	0	2.245e-05	0	0	0.0002	0	4.537e-05	0.0001	1.164e-05	0.0009	0.0077	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0003	0	0.0006	0.0003	0	0.0024	0	0.0012	0	0	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.991	0.79672	D	0.233749	0.03535	N	1.797620	1	0.08975	N	0.55	0.14455	N	0.99	0.41750	T	-2.42	0.53096	N	0.082	0.05799	-0.9110	0.46732	T	0.159	0.49329	T	9	0.1416693	0.26915	T	0.440575	0.94157	D	0.114	0.32008	0.131	0.03577	0.277317399466	0.27352	0.010577077127129755	0.01018	.	.	.	.	.	0.032978	0.22720	T	-0.180789	0.23619	T	-0.497467	0.22612	T	0.722561776638031	0.41828	D	0.50065	0.15660	T	0.14399366	0.33070	0.1542791	0.36215	0.14399366	0.33070	0.1542791	0.36214	-3.892	0.22182	T	.	.	0.174	0.38208	B	.;.	.;.	1.594847	0.20394	14.73	0.99228569558388835	0.56151	0.00242	0.01343	N	AEFI	0.033741	0.04059	N	-0.465438061049469	0.23220	1.245387	-0.722740132640809	0.16395	0.8671031	0.992148497051086	0.32735	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	0.665	0.665	0.17066	-0.757000	0.04877	.	.	-1.612000	0.00879	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.05	115.43	77	chr3	75665953	.	C	A	115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.423;DP=712;ExcessHet=0;FS=8.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.6;MQRankSum=-4.194;QD=1.15;ReadPosRankSum=-0.638;SOR=1.328	GT:AD:DP:GQ:PL	0/1:88,12:100:99:127,0,3381	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,63:104:99:0|1:75730450_C_T:2522,0,1521:75730450	0	0	10	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	379.75	94	chr3	75730611	.	G	T	379.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.22;DP=666;ExcessHet=1.5895;FS=30.378;InbreedingCoeff=-0.2547;MLEAC=4;MLEAF=0.2;MQ=56.6;MQRankSum=-6.063;QD=1.27;ReadPosRankSum=-2.301;SOR=6.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,6:67:43:.:.:43,0,2454:.	6	0	4	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,30:155:99:.:.:402,0,4825:.	0	0	10	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	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,47:159:99:.:.:1578,0,3235:.	0	0	10	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	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,49:167:99:0|1:75736920_C_A:1702,0,4764:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,49:166:99:0|1:75736920_C_A:1700,0,4765:75736920	1	0	9	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:113,48:161:99:1101,0,3161	1	0	6	3
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:99,57:156:99:1320,0,2939	2	0	8	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	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:99,65:164:99:1348,0,2944	1	0	9	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	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,66:173:99:0|1:75737092_C_T:2429,0,4294:75737092	0	0	10	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	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,66:173:99:0|1:75737092_C_T:2429,0,4294:75737092	0	0	10	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	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,60:167:99:0|1:75737092_C_T:2197,0,4312:75737092	0	0	10	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	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,52:150:99:0|1:75737092_C_T:1888,0,3958:75737092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,33:124:99:0|1:75737092_C_T:1112,0,3712:75737092	1	0	9	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	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,107:171:99:.:.:4030,0,2331:.	0	0	10	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	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,114:211:99:0|1:75737590_A_G:4406,0,3702:75737590	0	0	10	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	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,113:217:99:0|1:75737590_A_G:4432,0,4027:75737590	0	0	10	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	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,119:224:99:0|1:75737590_A_G:4681,0,4051:75737590	0	0	10	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	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,112:215:99:0|1:75737590_A_G:4393,0,3988:75737590	0	0	10	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	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,110:209:99:0|1:75737590_A_G:4321,0,3826:75737590	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,65:168:99:1|0:75737791_C_A:2381,0,3940:75737791	0	0	10	0
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	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,34:152:99:0|1:75737881_T_C:877,0,4764:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,30:151:99:0|1:75737881_T_C:756,0,4967:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,29:149:99:0|1:75737881_T_C:729,0,4948:75737881	1	0	9	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	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	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,21:197:99:0|1:75737994_T_C:341,0,7228:75737994	1	0	9	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	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	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,15:179:99:0|1:75737994_T_C:136,0,6841:75737994	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:78,21:99:99:333,0,2288	2	0	8	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:56,36:92:99:764,0,1486	1	0	9	0
chr3	97875833	97875833	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G4639A:p.G1547R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.264e-07	6.841e-07	0	1.962e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.29e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.24103412	0.41274	T	.	.	.	.	.	.	.	0.556224665151	0.55282	0.007123398080973297	0.00679	.	.	.	.	.	0.006991	0.06413	T	0.100323	0.64328	D	-0.0936691	0.63884	T	.	.	.	0.657134	0.26688	T	0.13836901	0.32004	0.3921231	0.63965	0.13836901	0.32004	0.3921231	0.63965	-5.886	0.45316	T	.	.	0.205	0.43046	B	.	.	3.263861	0.44646	22.0	0.50158888951905944	0.04335	0.07979	0.13961	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0772698515536432	0.15753	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.825518	0.49387	5.26	4.35	0.51454	2.665000	0.46456	6.415000	0.55603	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.180000	0.21296	0.0:0.1744:0.8256:0.0	11.896	0.51937	798	0.45050	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1401.43	149	chr3	97875833	.	G	A	1401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.584;DP=1164;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.609;SOR=0.813	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1413,0,1792	9	0	1	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	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:67:0|1:100775333_T_C:67,0,629:100775333	1	0	9	0
chr3	108576342	108576342	C	G	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon8:c.G823C:p.E275Q	.	547	974	0	1	0	2	0.00102564	.	.	.	3293885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00669576050526	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs199821162	0.0001	0.0001	0.0001	0.0001	0.0024	9.716e-05	9.188e-05	0.0014	0.0011	0.0001	0.0003	8.151e-05	0	0	0.0024	0.0001	0.0002	5.258e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0005	0	0	0	0.0034	0.0003	0.0009	0.0002	0.019	0.50132	D	0.126	0.35205	T	0.909	0.50183	P	0.48	0.47081	P	0.000006	0.62929	D	0.142736	0.997403	0.43861	D	0.515	0.13537	N	1.32	0.35219	T	-1.14	0.29323	N	0.414	0.46274	-0.9486	0.41211	T	0.125	0.43028	T	10	0.30412078	0.47939	T	0.006696	0.17671	T	0.097	0.27909	.	.	0.59199265086	0.58876	0.1660569587061485	0.16525	0.595140059168	0.54798	0.546787023544	0.45403	T	0.002884	0.19262	T	-0.365172	0.03846	T	-0.467486	0.25788	T	0.129848226904869	0.15368	T	0.873013	0.58094	D	0.32902864	0.55392	0.26675704	0.52525	0.32902864	0.55392	0.26675704	0.52524	-3.827	0.21208	T	.	.	0.130	0.30022	B	.;.;.	.;.;.	3.559695	0.50079	22.9	0.99716450953476576	0.81703	0.94475	0.61285	D	AEFGBI	0.277490	0.39199	N	0.559785288277818	0.70680	5.537231	0.61147013909418	0.75770	6.369997	0.999997150803918	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.91	5.91	0.95240	2.893000	0.48331	5.964000	0.51876	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9319:0.0:0.0681	15.385	0.74406	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	800.43	40	chr3	108576342	.	C	G	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.949;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.722;SOR=0.631	GT:AD:DP:GQ:PL	0/1:22,35:57:99:812,0,483	9	0	1	0
chr3	109061989	109061989	T	A	exonic	MORC1	.	nonsynonymous SNV	MORC1:NM_014429:exon11:c.A965T:p.K322M	.	434	1083	5	0	0	5	0.00230309	0.9994	0.978	.	720063	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.105	.	0.0080	0.00459265	0.0048	0.0111	0.0028	0	0.0047	0.0055	0.0055	0.0018	0.0047735	738	154602	rs17225637	0.0047	0.0047	0.0049	0.0046	0.0128	0.0046	0.0046	0.0118	0.0114	0.0128	0.0028	0.0018	0	0.0049	0.0033	0.0050	0.0045	0.0018	0.0063	0.0063	0.0064	0.0063	0.0124	0.0060	0.0059	0.0115	0.0112	0.0124	0	0.0039	0.0017	0	0.0048	0.0034	0.0046	0.0057	0.0017	0.003	0.68238	D	0.029	0.56640	D	0.061	0.23190	B	0.039	0.23607	B	0.109723	0.02627	N	1.769550	0.799926	0.29127	N	2.39	0.68882	M	3.24	0.06931	T	-2.75	0.58407	D	0.383	0.42443	-1.0182	0.24301	T	0.027	0.11397	T	10	0.0076232255	0.00173	T	.	.	.	0.105	0.29889	.	.	0.295974979623	0.29207	0.635917369716994	0.63525	0.454143178451	0.45108	0.313199520111	0.12390	T	0.143328	0.47939	T	-0.579052	0.00195	T	-0.593513	0.13363	T	0.0225987782914254	0.00977	T	0.664534	0.27348	T	0.14804329	0.33816	0.16649102	0.38459	0.14804329	0.33816	0.16649102	0.38458	-6.193	0.48611	T	.	.	0.196	0.41753	B	.;.	.;.	3.866285	0.56101	23.7	0.99368618001425768	0.61326	0.85277	0.44396	D	AEFBI	0.282884	0.39612	N	-0.00684072183946582	0.41545	2.486904	0.0950967934928079	0.44302	2.714561	0.110769812287772	0.16641	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	2.054000	0.40961	3.966000	0.40787	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.149000	0.20271	0.0:0.0:0.0:1.0	11.789	0.51328	868	0.31772	.;.	.	.	.	.	.	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	0.005539	0.000000	0.012228	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	965.43	39	chr3	109061989	.	T	A	965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.479;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.375;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,44:89:99:1|0:109061984_G_A:977,0,1758:109061984	9	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	184.11	82	chr3	115676196	.	G	C	184.11	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.041;DP=817;ExcessHet=4.5998;FS=209.673;InbreedingCoeff=-0.4297;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.792;SOR=10.138	GT:AD:DP:GQ:PL	0/1:58,21:79:24:24,0,1192	4	0	6	0
chr3	126414156	126414156	C	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon4:c.C202A:p.Q68K	.	426	1056	40	0	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0044	0.0229633	0.0146	0.0013	0.0209	0.0679	0.0042	0.0053	0.0099	0.0323	0.0134151	2074	154602	rs75744986	0.0084	0.0084	0.0076	0.0092	0.0691	0.0083	0.0082	0.0669	0.0661	0.0020	0.0174	0.0132	0.0691	0.0042	0.0208	0.0042	0.0097	0.0316	0.0076	0.0076	0.0063	0.0089	0.0573	0.0072	0.0071	0.0520	0.0499	0.0016	0	0.0101	0.0179	0.0573	0.0050	0.0238	0.0049	0.0076	0.0347	0.973	0.42199	T	1.0	0.92824	T	0.003	0.12996	B	0.003	0.12992	B	0.014644	0.28470	N	0.273357	0.999996	0.08975	N	.	.	.	1.69	0.27032	T	0.4	0.50992	N	0.184	0.24510	-0.9978	0.30535	T	0.004	0.01295	T	10	0.0015695989	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.11163472562439454	0.11092	0.127368391803	0.14354	0.353693246841	0.18464	T	0.001697	0.01120	T	-0.599402	0.00147	T	-0.581126	0.14445	T	0.0028673461894165	0.00030	T	0.637136	0.25071	T	0.11341133	0.26786	0.07550538	0.16630	0.11341133	0.26785	0.07550538	0.16629	-4.772	0.34263	T	.	.	0.077	0.35992	B	.;.;.	.;.;.	1.302801	0.17048	12.93	0.46730800028405128	0.03765	0.10915	0.16281	N	AEFDBI	0.038909	0.05575	N	-0.834420543527329	0.12436	0.6061978	-0.749092603680264	0.15745	0.8295878	4.17246019275348E-4	0.06899	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.6	1.35	0.21078	1.095000	0.30575	3.156000	0.36547	0.549000	0.26987	0.779000	0.29461	0.997000	0.33255	0.857000	0.40602	0.5528:0.4472:0.0:0.0	9.651	0.39064	864	0.32732	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.011696	0.050000	0.025862	0.018293	0.022727	0.1	2661.14	33	chr3	126414156	.	C	A	2661.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.013;DP=552;ExcessHet=0.2348;FS=0.952;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.37;SOR=0.758	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1130,0,1986	8	0	2	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	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,19:57:99:.:.:181,0,592:.	1	0	9	0
chr3	130388823	130388823	A	G	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.A2105G:p.N702S,COL6A5:NM_153264:exon6:c.A2105G:p.N702S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.0120643211172	.	0.000399361	0.0009	0	0.0025	0	0	0.0014	0	0.0005	0.0001358	21	154602	rs561794912	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	3.166e-05	0.0005	0.0038	0	0	0.0004	8.25e-05	0.0004	0.0003	0.0002	0.0002	0.0002	9.403e-05	0.0006	0.0001	8.715e-05	0.0002	8.989e-05	7.217e-05	0	6.543e-05	0.0026	0	0	0	0.0001	0	0.0006	0.188	0.21304	T	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.05	0.76690	T	-0.66	0.19085	N	0.076	0.05037	-0.9411	0.42442	T	0.230	0.59571	T	9	0.004887104	0.00104	T	0.012064	0.30290	T	0.185	0.45933	.	.	0.203808441222	0.19973	0.17210072145623292	0.17130	0.0275248911149	0.02815	0.223638623953	0.01530	T	0.053395	0.29432	T	-0.510111	0.00501	T	-0.654359	0.08651	T	0.0227020386342014	0.00989	T	0.326667	0.06741	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.	.	-1.190427	0.00541	0.013	0.23704241753225189	0.01014	0.01082	0.03993	N	AEFBI	0.047932	0.08126	N	-1.39645402939991	0.02671	0.1182871	-1.45808863925754	0.02698	0.1245599	0.999664481073091	0.41534	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	-4.42	0.03329	-1.685000	0.02032	-1.945000	0.04454	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1353:0.0913:0.7733:0.0	10.383	0.43308	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1788.43	34	chr3	130388823	.	A	G	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.604;DP=455;ExcessHet=0;FS=6.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.434;SOR=0.671	GT:AD:DP:GQ:PL	0/1:63,72:135:99:1800,0,1494	9	0	1	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	.	.	.	.	.	.	.	.	0.2857	1438.56	46	chr3	130421335	.	G	A	1438.56	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:99:0|1:130421335_G_A:182,0,877:130421335	3	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1438.09	47	chr3	130421337	.	T	C	1438.09	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:99:0|1:130421335_G_A:182,0,877:130421335	1	0	6	3
chr3	149792321	149792321	C	T	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon1:c.G46A:p.V16I,ANKUB1:NM_001315506:exon1:c.G46A:p.V16I	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00498328214911	0.0002	0.000199681	0.0002	0	0.0025	0	0	0.0002	0	0.0003	3.88e-05	6	154602	rs368657651	6.88e-05	6.635e-05	6.854e-05	6.906e-05	0.0007	5.746e-05	5.337e-05	0.0002	0.0001	6.47e-05	8.99e-05	0	0	0	0.0007	6.174e-05	0.0001	0.0002	3.94e-05	3.938e-05	2.571e-05	5.372e-05	9.626e-05	1.715e-05	1.129e-05	3.243e-05	1.911e-05	9.626e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.089	0.32141	T	0.183	0.29153	T	.	.	.	.	.	.	0.000494	0.43931	N	0.086602	0.968349	0.25806	N	1.26	0.31868	L	1.0	0.41392	T	-0.47	0.15178	N	0.118	0.15888	-0.9619	0.38819	T	0.117	0.41253	T	10	0.013179272	0.00280	T	0.004983	0.12566	T	0.077	0.22490	.	.	0.0611884634855	0.05136	0.09609079441324556	0.09541	.	.	0.341656386852	0.16686	T	0.005024	0.04451	T	-0.382906	0.02987	T	-0.513495	0.20957	T	0.0742113279339242	0.09230	T	0.573543	0.20534	T	0.02928469	0.02398	0.0538028	0.09132	0.02928469	0.02398	0.0538028	0.09132	-2.758	0.07803	T	.	.	0.084	0.09917	B	.;.	.;.	1.750343	0.22270	15.55	0.9945509356656772	0.65479	0.63205	0.32017	D	AEFBI	0.092825	0.18788	N	-0.093915915277457	0.37659	2.194177	0.0304917249945654	0.41137	2.466542	0.953250499578199	0.28063	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.03	4.24	0.49486	0.772000	0.26309	2.150000	0.30904	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.8492:0.0:0.1508	11.052	0.47114	891	0.26808	.;Ubiquitin domain|Ubiquitin 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	.	.	.	.	.	.	.	.	0.05	816.43	37	chr3	149792321	.	C	T	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.462;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=0.63;SOR=0.736	GT:AD:DP:GQ:PL	0/1:65,40:105:99:828,0,1759	9	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I,ARHGEF26:NM_001251963:exon2:c.T25A:p.F9I,ARHGEF26:NM_015595:exon2:c.T25A:p.F9I	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.010870	0.011696	0.000000	0.025862	0.039634	0.034091	0.15	6007.45	43	chr3	154122017	.	T	A	6007.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.523;DP=850;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.591;SOR=0.748	GT:AD:DP:GQ:PL	0/1:84,98:182:99:2295,0,2021	7	0	3	0
chr3	167531199	167531199	G	A	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001366158:exon10:c.C1078T:p.R360C,WDR49:NM_001348951:exon13:c.C2101T:p.R701C,WDR49:NM_001348952:exon13:c.C2101T:p.R701C,WDR49:NM_001366157:exon13:c.C2134T:p.R712C	.	433	1087	1	1	0	3	0.00137804	.	.	.	3633659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0105706105996	0.0003	.	0.0001	0.0003	0	0.0002	0	0.0001	0.0011	0.0002	0.0001035	16	154602	rs368438338	6.44e-05	6.635e-05	4.772e-05	8.125e-05	0.0002	5.369e-05	4.984e-05	0.0001	8.655e-05	8.991e-05	6.716e-05	0	2.52e-05	0	0	6.297e-05	3.322e-05	0.0002	9.865e-05	9.853e-05	0.0001	8.084e-05	0.0002	6.012e-05	4.884e-05	0.0001	8.457e-05	0.0002	0	0	0	0	0	0	8.823e-05	0	0	0.232	0.18184	T	0.206	0.27056	T	0.001	0.07471	B	0.0	0.01387	B	0.001318	0.00768	N	2.593630	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-1.54	0.37375	N	0.091	0.06990	-1.0618	0.11312	T	0.052	0.22269	T	10	0.065090746	0.08731	T	0.010571	0.27259	T	0.099	0.28413	.	.	0.215109475489	0.21095	0.3285055207939453	0.32763	0.0340173804989	0.03570	0.18560321629	0.00157	T	0.004054	0.03463	T	-0.385173	0.02888	T	-0.485074	0.23908	T	0.0116740074008703	0.00178	T	0.315568	0.06432	T	0.058767997	0.11863	0.042029142	0.04911	0.058767997	0.11862	0.042029142	0.04911	-5.312	0.40062	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	0.776730	0.11468	8.072	0.86952591598843032	0.16886	0.00805	0.03273	N	AEFI	0.048289	0.08225	N	-1.54327534256006	0.01574	0.06877762	-1.60495884731145	0.01625	0.07375843	0.146186743356581	0.17362	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.04	-8.1	0.00957	-0.250000	0.08849	-1.348000	0.05654	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1881:0.104:0.411:0.2969	2.199	0.03678	881	0.29269	WD40-repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	820.43	33	chr3	167531199	.	G	A	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=450;ExcessHet=0;FS=2.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=-4.201;QD=7.39;ReadPosRankSum=-0.147;SOR=0.983	GT:AD:DP:GQ:PL	0/1:74,37:111:99:832,0,1747	9	0	1	0
chr3	195779771	195779771	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11809T:p.L3937F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0023302689329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.271e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32769	T	0.094	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.18	0.52642	T	-0.53	0.16393	N	0.03	0.01658	-1.0680	0.09858	T	0.062	0.25887	T	7	0.09802696	0.17696	T	0.00233	0.04507	T	0.035	0.08770	0.197	0.10975	0.0138822411134	0.00435	8.164020071227647E-4	0.00075	.	.	0.526694536209	0.42569	T	.	.	.	-0.331637	0.05988	T	-0.71415	0.05084	T	0.128126339868062	0.15207	T	0.837516	0.51030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.39731	B	.;.	.;.	1.404453	0.18190	13.60	0.78373864189996989	0.12273	0.00116	0.00732	N	AEFBI	0.045921	0.07565	N	-0.855900336212729	0.11906	0.5772233	-1.07569448320041	0.08180	0.4010929	1.57801726585785E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.519000	0.06345	-3.256000	0.02930	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	1.0E-4:1.0E-4:0.5407:0.4592	3.312	0.06607	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	.	.	.	.	.	.	.	.	0.05	69.76	7	chr3	195779771	.	G	A	69.76	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=1818;ExcessHet=0;FS=0;InbreedingCoeff=-0.0439;MLEAC=1;MLEAF=0.05;MQ=34.8;MQRankSum=0.967;QD=23.25;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:17:0|1:195779771_G_A:81,0,17:195779771	9	0	1	0
chr3	195780371	195780371	-	TGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACGGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCCGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCCGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.904e-06	1.228e-06	0	3.728e-06	.	0	0	.	.	0	0	0	0	0	0	0	4.038e-05	0	2.328e-05	1.292e-05	4.543e-05	0	0.0008	0	0	.	.	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	37884.9	193	chr3	195780371	.	C	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACGGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	37884.9	.	AC=1;AF=0.05;AN=20;DP=5539;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.01;MLEAC=1;MLEAF=0.05;MQ=58.34;QD=26.44;SOR=0.75	GT:AD:DP:GQ:PL	0/1:0,134:198:99:11256,2467,8943	9	0	1	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	20258.3	171	chr3	195780499	.	G	*	20258.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.18;DP=3734;ExcessHet=0.0952;FS=13.515;InbreedingCoeff=0.3407;MLEAC=1;MLEAF=0.05;MQ=53.96;MQRankSum=-0.434;QD=15.01;ReadPosRankSum=-4.464;SOR=1.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,0:74:99:.:.:24693,3675,2419:.	9	0	1	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	33331.8	360	chr3	195780501	.	C	*	33331.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.3;DP=3691;ExcessHet=0.1398;FS=3.222;InbreedingCoeff=0.2157;MLEAC=1;MLEAF=0.063;MQ=53.86;MQRankSum=-1.096;QD=20.18;ReadPosRankSum=-2.565;SOR=0.95	GT:AD:DP:GQ:PL	0/1:8,0:65:99:24228,3213,1999	7	0	1	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	10999.2	157	chr3	195780510	.	G	*	10999.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.543;DP=3329;ExcessHet=0;FS=6.602;InbreedingCoeff=0.6825;MLEAC=1;MLEAF=0.056;MQ=53.24;MQRankSum=3.23;QD=17.66;ReadPosRankSum=-3.247;SOR=1.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,0:41:99:.:.:23448,2057,900:.	8	0	1	1
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	10471.7	151	chr3	195780514	.	G	*	10471.7	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.903;DP=3659;ExcessHet=0;FS=3.239;InbreedingCoeff=0.6337;MLEAC=1;MLEAF=0.063;MQ=53.84;MQRankSum=2.76;QD=15.47;ReadPosRankSum=-4.006;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:10,0:28:99:.:.:23301,1756,472:.	7	0	1	2
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3059.69	142	chr3	195780525	.	GTC	*	3059.69	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.515;DP=3451;ExcessHet=0;FS=13.835;InbreedingCoeff=0.5606;MLEAC=2;MLEAF=0.125;MQ=53.6;MQRankSum=0.297;QD=21.55;ReadPosRankSum=1.02;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:11,0:11:99:.:.:22785,1242,0:.	7	1	0	2
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3539.68	142	chr3	195780526	.	TCCG	*	3539.68	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.18;DP=3471;ExcessHet=0;FS=3.005;InbreedingCoeff=0.6337;MLEAC=5;MLEAF=0.313;MQ=52.88;MQRankSum=3.73;QD=7.53;ReadPosRankSum=0.633;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:11,0:11:99:.:.:22785,1242,0:.	6	2	0	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32786.1	191	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	32786.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.448;DP=2955;ExcessHet=0.0072;FS=1.227;InbreedingCoeff=0.5833;MLEAC=3;MLEAF=0.15;MQ=53.45;MQRankSum=1.79;QD=17.97;ReadPosRankSum=2.39;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:3,51:180:99:.:.:7392,5125,5632:.	7	0	3	0
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	10065.1	198	chr3	195781628	.	C	*	10065.1	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.47;DP=2902;ExcessHet=0.3131;FS=1.185;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=56.37;MQRankSum=1.27;QD=4.25;ReadPosRankSum=1.56;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,184:187:99:1|1:195781591_T_*:8004,477,0:195781591	5	3	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	11362.9	351	chr3	195782558	.	A	*	11362.9	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.593;DP=4385;ExcessHet=0.0197;FS=0.624;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=56.02;MQRankSum=-7.929;QD=6.56;ReadPosRankSum=2.02;SOR=0.742	GT:AD:DP:GQ:PL	1/0:0,176:354:99:13356,5101,5963	5	0	4	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	4996.18	186	chr3	195782605	.	A	*	4996.18	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.835;DP=4407;ExcessHet=0.0135;FS=1.322;InbreedingCoeff=0.2533;MLEAC=5;MLEAF=0.357;MQ=54.06;MQRankSum=-9.158;QD=4.07;ReadPosRankSum=0.336;SOR=0.814	GT:AD:DP:GQ:PL	1/0:0,176:317:99:10211,4361,10365	3	0	4	3
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	569.11	199	chr3	195782644	.	T	*	569.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.31;DP=4848;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=5;MLEAF=0.357;MQ=54.14;MQRankSum=-5.761;QD=0.28;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/1:218,176:397:99:5639,0,9864	3	0	4	3
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	28885.0	201	chr3	195783084	.	A	*	28885.0	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.875;DP=4318;ExcessHet=0.0072;FS=2.198;InbreedingCoeff=0.5833;MLEAC=2;MLEAF=0.1;MQ=57.86;MQRankSum=6.76;QD=10.69;ReadPosRankSum=2.08;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,245:425:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:9171,6930,6550:195783071	8	0	2	0
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	50493.3	198	chr3	195783093	.	A	*	50493.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.724;DP=4359;ExcessHet=0.0072;FS=0.764;InbreedingCoeff=0.2982;MLEAC=2;MLEAF=0.143;MQ=57.96;MQRankSum=-0.518;QD=18.43;ReadPosRankSum=-0.862;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,245:436:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:9467,7340,7491:195783071	5	0	2	3
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27926.1	463	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	27926.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.176;DP=5220;ExcessHet=2.8389;FS=0.604;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.7;MQRankSum=-5.849;QD=15.1;ReadPosRankSum=-8.49;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:410,82:494:99:.:.:5788,0,16257:.	5	0	5	0
chr3	195784041	195784041	-	GGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7538_7539insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.P2514Hfs*25,MUC4:NM_001322468:exon7:c.7490_7491insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.A2498Hfs*50	.	420	1073	7	0	22	29	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256446582	5.133e-05	0.0009	5.072e-05	5.194e-05	0.0001	4.02e-05	3.601e-05	3.966e-05	3.524e-05	4.372e-05	0	0.0002	0.0001	0	0	5.265e-05	9.338e-05	0	0.0003	0.0024	0.0002	0.0003	0.0003	0.0002	0.0001	0.0001	0.0001	0.0002	0	0.0002	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	858.01	660	chr3	195784041	.	T	TGGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	858.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.01;DP=5346;ExcessHet=0;FS=3.042;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.58;MQRankSum=-12.17;QD=1.48;ReadPosRankSum=-9.236;SOR=0.892	GT:AD:DP:GQ:PL	0/1:518,60:581:99:869,0,21439	8	0	1	1
chr3	195784560	195784655	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6925_7020del:p.D2309_T2340del,MUC4:NM_001322468:exon7:c.6877_6972del:p.L2297_A4615delinsPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	515	990	6	1	10	18	0.00402414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0062	0.0072	0	0.0029	0.0141	0.0133	0.0026	0.0013063	34	26028	.	0.0015	0.0016	0.0013	0.0017	0.0073	0.0014	0.0014	0.0049	0.0042	0.0015	0.0011	0.0017	0.0003	0.0028	0.0073	0.0015	0.0023	0.0006	0.0054	0.0063	0.0059	0.0049	0.0068	0.0050	0.0049	0.0062	0.0060	0.0034	0.0048	0.0063	0.0058	0	0.0041	0	0.0068	0.0048	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3573.01	824	chr3	195784559	.	TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	T	3573.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.02;DP=6340;ExcessHet=0;FS=2.429;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.12;MQRankSum=-1.447;QD=9.26;ReadPosRankSum=1.74;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	8	0	1	1
chr3	195784560	195784560	A	0	exonic	MUC4	.	.	.	.	21	200	1	1	3	6	0.00744417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6032.7	801	chr3	195784560	.	A	*	6032.7	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.521;DP=5962;ExcessHet=0.2633;FS=0.537;InbreedingCoeff=-0.2698;MLEAC=2;MLEAF=0.333;MQ=56.86;MQRankSum=-10.44;QD=7.29;ReadPosRankSum=0.331;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	2	0	1	7
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	22762.4	716	chr3	195784574	.	GC	*	22762.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.9;DP=6217;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=57.08;MQRankSum=-1.079;QD=13.07;ReadPosRankSum=2.22;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	9	0	1	0
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5773.97	686	chr3	195784575	.	C	*	5773.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=2.17;DP=6145;ExcessHet=2.5225;FS=1.103;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.4;MQ=57.09;MQRankSum=-9.307;QD=2.62;ReadPosRankSum=1.3;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	2	0	3	5
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	21397.4	673	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	*	21397.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.36;DP=6790;ExcessHet=0.7463;FS=0.521;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=57.5;MQRankSum=-3.186;QD=9.81;ReadPosRankSum=2.64;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	9	0	1	0
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5563.83	658	chr3	195784580	.	T	*	5563.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.239;DP=6780;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.15;MQRankSum=-11.73;QD=2.19;ReadPosRankSum=0.293;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	4	0	3	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5461.83	652	chr3	195784583	.	C	*	5461.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.267;DP=6748;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.89;QD=2.16;ReadPosRankSum=0.914;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	4	0	3	3
chr3	195784603	195784603	A	0	exonic	MUC4	.	.	.	.	606	833	68	9	6	92	0.0490868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7463.08	560	chr3	195784603	.	A	*	7463.08	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.895;DP=5841;ExcessHet=2.1085;FS=0;InbreedingCoeff=-0.1776;MLEAC=4;MLEAF=0.286;MQ=57.1;MQRankSum=-7.111;QD=2.84;ReadPosRankSum=0.069;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	4	0	3	3
chr3	195784615	195784615	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6485.54	495	chr3	195784615	.	G	*	6485.54	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.938;DP=5136;ExcessHet=0.2996;FS=1.841;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.1;MQ=57.15;MQRankSum=-12.76;QD=7.6;ReadPosRankSum=-3.227;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,108:386:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:3584,0,10552:195784559	4	0	1	5
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	38825.6	566	chr3	195784652	.	C	*	38825.6	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.788;DP=5363;ExcessHet=0.218;FS=0.542;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.64;MQRankSum=-9.751;QD=18.23;ReadPosRankSum=0.127;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,108:255:99:1|0:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:13271,5900,5434:195784559	4	0	2	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39296.4	576	chr3	195784654	.	T	*	39296.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=5402;ExcessHet=0.218;FS=0.544;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.71;MQRankSum=-9.883;QD=18.23;ReadPosRankSum=0.361;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,108:259:99:1|0:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:13660,6023,5442:195784559	4	0	2	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39365.4	576	chr3	195784655	.	C	*	39365.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.19;DP=5404;ExcessHet=0.218;FS=0.541;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.71;MQRankSum=-9.837;QD=18.24;ReadPosRankSum=-0.003;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,108:256:99:1|0:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:13645,5935,5315:195784559	4	0	2	4
chr3	195785546	195785546	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G6034A:p.G2012R,MUC4:NM_001322468:exon6:c.G6034A:p.G2012R	.	415	1102	3	0	2	5	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00183772928529	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328937283	2.183e-05	3.986e-05	2.155e-05	2.211e-05	3.545e-05	1.548e-05	1.344e-05	1.701e-05	1.445e-05	3.545e-05	0	0	0	0	0	2.445e-05	5.285e-05	0	7.005e-06	6.723e-06	0	1.432e-05	2.871e-05	0	0	.	.	2.871e-05	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-0.23	0.10656	N	0.094	0.14196	-1.0134	0.25848	T	0.039	0.16634	T	6	0.0605447	0.07454	T	0.001838	0.03193	T	0.013	0.01715	0.199	0.11247	0.0762999501168	0.06990	2.687417375514599E-4	0.00023	.	.	0.518753051758	0.41451	T	.	.	.	-0.317551	0.07100	T	-0.693917	0.06165	T	0.0394852827155222	0.03597	T	0.90001	0.65253	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.60324	A	.;.	.;.	1.505043	0.19339	14.21	0.91339311350640118	0.20602	0.00588	0.02641	N	AEFBCI	0.051968	0.09233	N	-1.20511845006586	0.04924	0.2233166	-1.32314163270973	0.04133	0.194282	1.25408671361993E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.042000	0.29914	-4.458000	0.02146	0.055000	0.17525	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4086.43	731	chr3	195785546	.	C	T	4086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=5290;ExcessHet=0;FS=1.841;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=-0.471;QD=7.72;ReadPosRankSum=-0.55;SOR=0.782	GT:AD:DP:GQ:PL	0/1:348,181:529:99:4098,0,9580	9	0	1	0
chr3	195785732	195785732	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A5848G:p.T1950A,MUC4:NM_001322468:exon6:c.A5848G:p.T1950A	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00153266145887	.	.	0.0004	0	0.0020	0.0021	0	0.0003	0	0.0003	0.0025357	66	26028	rs79969373	0.0004	0.0008	0.0004	0.0005	0.0132	0.0004	0.0004	0.0118	0.0113	0.0132	0.0005	0.0003	0.0008	0.0001	0.0012	0.0002	0.0007	0.0004	0.0020	0.0036	0.0020	0.0020	0.0081	0.0017	0.0017	0.0070	0.0066	0.0081	0	0.0007	0.0003	0.0016	0.0001	0.0093	0.0007	0.0022	0.0016	0.859	0.03857	T	0.106	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.82	0.26737	T	-0.17	0.09627	N	0.018	0.01421	-0.9826	0.34398	T	0.024	0.10284	T	7	0.009837478	0.00221	T	0.001533	0.02394	T	0.010	0.01040	.	.	0.0138822411134	0.00435	1.8487613766991287E-4	0.00016	.	.	0.524014055729	0.42192	T	.	.	.	-0.373839	0.03404	T	-0.774771	0.02615	T	0.0257902557260247	0.01378	T	0.536146	0.17993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.;.	.;.	0.104330	0.05051	1.595	0.55520222325972501	0.05359	0.01140	0.04135	N	AEFDBCI	0.054934	0.10031	N	-1.31249483791876	0.03531	0.1579037	-1.40303113639514	0.03221	0.1498323	1.1801956262733E-5	0.02871	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.634000	0.05575	-0.548000	0.08544	-1.217000	0.01344	0.001000	0.13787	0.001000	0.17328	0.002000	0.04165	3.0E-4:2.0E-4:0.4983:0.5012	2.830	0.05161	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.079412	0.143617	0.100629	0.099099	0.000000	0.092593	0.039216	0.016807	0.05	9384.16	687	chr3	195785732	.	T	C	9384.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=6283;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=56.42;MQRankSum=-13.02;QD=6.86;ReadPosRankSum=-3.896;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,56:684:99:0|1:195785726_G_A:460,0,25806:195785726	9	0	1	0
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del,MUC4:NM_001322468:exon4:c.3979_3981del:p.A1327_A4615delinsSSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	382.1	14	chr3	195787598	.	GCAT	G	382.1	.	AC=2;AF=0.1;AN=20;DP=738;ExcessHet=0.0135;FS=5.722;InbreedingCoeff=0.5208;MLEAC=2;MLEAF=0.1;MQ=44.27;QD=0.73;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:195787453_G_A:405,27,0:195787453	9	1	0	0
chr3	195787606	195787606	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A3974T:p.D1325V,MUC4:NM_001322468:exon4:c.A3974T:p.D1325V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000655979915957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34253	T	-0.3	0.11913	N	0.123	0.17966	-1.0518	0.13899	T	0.035	0.14900	T	8	0.093527794	0.16559	T	6.56E-4	0.00350	T	0.013	0.01715	0.28	0.23483	0.0297737177859	0.01360	0.001541378116443626	0.00142	.	.	0.48179396987	0.36304	T	.	.	.	-0.289584	0.09678	T	-0.653744	0.08694	T	0.0826538188049675	0.10323	T	0.857114	0.54640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46881	B	.;.	.;.	1.459843	0.18824	13.94	0.59291013908831258	0.06190	0.00314	0.01657	N	AEFI	0.054323	0.09869	N	-1.11385691208119	0.06395	0.2942896	-1.29352653674177	0.04517	0.2132571	1.2593949137403E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.272000	0.02933	-8.260000	0.01000	0.060000	0.17535	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.3267:0.3426:0.3306	2.146	0.03555	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	154.17	3	chr3	195787606	.	T	A	154.17	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=33.79;MQRankSum=0;QD=30.83;ReadPosRankSum=0.967;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,4:5:21:0|1:195787453_G_A:165,0,21:195787453	8	0	1	1
chr3	195788180	195788180	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3400A:p.A1134T,MUC4:NM_001322468:exon4:c.G3400A:p.A1134T	.	470	951	19	0	82	101	0.00989068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	.	.	0.000998403	0.0111	0.0095	0.0213	0.0462	0.0024	0.0159	0	0.0060	0.0014295	221	154602	rs79645763	0.0003	0.0059	0.0003	0.0003	0.0027	0.0003	0.0003	0.0021	0.0019	0.0006	0.0004	0.0007	0.0027	0.0011	0.0005	0.0002	0.0006	8.487e-05	0.0038	0.0092	0.0037	0.0038	0.0071	0.0034	0.0033	0.0044	0.0035	0.0032	0.0082	0.0020	0.0037	0.0071	0.0066	0	0.0040	0.0042	0.0024	0.788	0.03218	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.049	0.05670	-1.0145	0.25497	T	0.033	0.14203	T	8	0.00656271	0.00149	T	.	.	.	0.000	0.00003	.	.	0.0138822411134	0.00435	0.003076283846689497	0.00286	.	.	0.321211725473	0.13606	T	.	.	.	-0.369551	0.03617	T	-0.768611	0.02814	T	0.00730006613025309	0.00084	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06114	B	.;.	.;.	0.065437	0.04751	1.376	0.90268847605123925	0.19538	0.00053	0.00405	N	AEFBI	0.030727	0.03149	N	-1.33967753435907	0.03233	0.1440755	-1.46984832069324	0.02595	0.1196181	1.98884394019904E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.814	-1.63	0.07900	-4.258000	0.00301	-0.347000	0.09772	-1.291000	0.01255	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2638:0.3161:0.0:0.4201	1.939	0.03140	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004065	0.010989	0.005597	0.000000	0.000000	0.000000	0.003968	0.000000	0.1	200.14	182	chr3	195788180	.	C	T	200.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.14;DP=3127;ExcessHet=0.2348;FS=52.072;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.08;MQRankSum=-7.094;QD=0.58;ReadPosRankSum=-1.241;SOR=4.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,12:164:45:0|1:195788077_G_A:45,0,5983:195788077	8	0	2	0
chr3	195788183	195788183	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3397G:p.H1133D,MUC4:NM_001322468:exon4:c.C3397G:p.H1133D	.	458	976	6	0	82	88	0.00306435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0072	0.0052	0.0132	0.0269	0.0018	0.0104	0	0.0043	0.000925	143	154602	rs755264800	0.0001	0.0050	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0003	0.0001	0.0002	0.0011	0.0005	0.0003	0.0001	0.0002	1.356e-05	0.0015	0.0045	0.0014	0.0015	0.0025	0.0013	0.0012	0.0015	0.0014	0.0007	0.0028	0.0010	0.0014	0.0025	0.0027	0	0.0018	0.0034	0.0008	1.0	0.00964	T	0.488	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.3	0.11913	N	0.172	0.27197	-1.0240	0.22410	T	0.035	0.14987	T	8	0.004650831	0.00097	T	.	.	.	0.027	0.05988	0.212	0.13066	0.0138822411134	0.00435	0.012443506741045308	0.01203	.	.	0.346953630447	0.17472	T	.	.	.	-0.378935	0.03164	T	-0.782091	0.02391	T	0.0449845124125565	0.04599	T	0.531447	0.17660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14797	B	.;.	.;.	1.334099	0.17395	13.14	0.75021871002754792	0.10915	0.00019	0.00214	N	AEFBI	0.020795	0.00858	N	-1.2886627646921	0.03810	0.1709067	-1.45455562657595	0.02729	0.1260527	1.89401554455299E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.706	-1.41	0.08473	-1.345000	0.02744	0.000000	0.13247	-1.834000	0.00587	0.000000	0.06391	0.003000	0.18671	0.006000	0.07323	0.2873:0.4226:0.2901:0.0	2.842	0.05193	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	47.21	190	chr3	195788183	.	G	C	47.21	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.37;DP=3174;ExcessHet=0.2348;FS=68.239;InbreedingCoeff=-0.0844;MLEAC=1;MLEAF=0.05;MQ=56.46;MQRankSum=-6.831;QD=0.13;ReadPosRankSum=-1.724;SOR=6.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,11:163:1:0|1:195788077_G_A:1,0,5987:195788077	8	0	2	0
chr3	195791035	195791035	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C545T:p.T182I,MUC4:NM_001322468:exon3:c.C545T:p.T182I	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00232710877315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266391701	1.368e-06	1.368e-06	0	2.751e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.049	0.48336	D	.	.	.	.	.	.	0.712198	0.10004	U	0.804352	1	0.08975	N	.	.	.	1.18	0.37746	T	-0.6	0.17834	N	0.097	0.07811	-1.0008	0.29688	T	0.061	0.25383	T	10	0.06654143	0.09142	T	0.002327	0.04507	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.042282418963728	0.04173	.	.	0.219919115305	0.01305	T	.	.	.	-0.241908	0.15107	T	-0.58526	0.14079	T	0.042849198656557	0.04211	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.46037	B	.;.	.;.	0.797873	0.11683	8.266	0.66498986399030935	0.08077	0.06103	0.12079	N	AEFDBHCI	0.061181	0.11677	N	-1.09572050865767	0.06721	0.3102392	-1.16493783061915	0.06504	0.3132772	0.00414696587334818	0.10434	0.554377	0.28877	0	0.187218	0.04217	2	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.56	0.752	0.17546	-0.051000	0.11840	-1.370000	0.05600	0.462000	0.21616	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1105:0.19:0.5036:0.1958	2.348	0.04015	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.05	2851.43	182	chr3	195791035	.	G	A	2851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.543;DP=1722;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.311;SOR=0.589	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2863,0,2711	9	0	1	0
chr4	443059	443059	T	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.A1408G:p.K470E	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0005	0.00119808	0.0036	0.0001	0	0	0.0413	0.0020	0.0033	0.0015	0.0029366	454	154602	rs202092769	0.0019	0.0019	0.0019	0.0019	0.0019	0.0019	0.0019	0.0017	0.0016	0.0002	4.473e-05	0	0.0001	0.0373	0.0003	0.0005	0.0017	0.0019	0.0036	0.0036	0.0016	0.0057	0.0021	0.0034	0.0033	0.0011	0.0010	0.0001	0	0.0001	0	0	0.0418	0	0.0013	0.0019	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	1	0.81001	D	0.32	0.10341	N	2.66	0.12575	T	2.66	0.00198	N	0.127	0.21580	-1.0609	0.11532	T	0.017	0.07092	T	9	0.0024181008	0.00036	T	.	.	.	0.047	0.12962	.	.	0.0611884634855	0.05136	0.01298403361476462	0.01256	0.0155235919736	0.01479	0.303648233414	0.10947	T	6.68E-4	0.00291	T	-0.606698	0.00133	T	-0.648247	0.09077	T	0.0247379213808929	0.01239	T	0.0212979	0.00179	T	0.022100728	0.00851	0.036388066	0.03075	0.022100728	0.00851	0.036388066	0.03074	0.223	0.00321	T	.	.	0.079	0.07507	B	.;.	.;.	-0.862456	0.00990	0.040	0.28258469336382913	0.01442	0.00000	0.00017	N	AEFDGBHCI	0.016299	0.00359	N	-1.85917970373271	0.00416	0.01788341	-1.94209729748637	0.00403	0.01782718	0.0859225385925363	0.15995	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	-1.42	0.08446	-0.025000	0.12361	.	.	-1.643000	0.00837	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2138:0.5816:0.0:0.2045	4.429	0.10942	912	0.21483	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	0.001587	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1016.43	35	chr4	443059	.	T	C	1016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=408;ExcessHet=0;FS=3.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.69;MQRankSum=-0.946;QD=13.74;ReadPosRankSum=0.536;SOR=1.179	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1028,0,954	9	0	1	0
chr4	681983	681983	A	G	exonic	MYL5;SLC49A3	.	nonsynonymous SNV	MYL5:NM_002477:exon7:c.A511G:p.K171E,SLC49A3:NM_001294342:exon8:c.T1301C:p.F434S,MYL5:NM_001363650:exon8:c.A388G:p.K130E,SLC49A3:NM_001378059:exon8:c.T1367C:p.F456S,SLC49A3:NM_001378060:exon8:c.T1364C:p.F455S,SLC49A3:NM_001378062:exon8:c.T1298C:p.F433S,SLC49A3:NM_001378061:exon9:c.T1421C:p.F474S,SLC49A3:NM_001294341:exon10:c.T1658C:p.F553S,SLC49A3:NM_032219:exon10:c.T1655C:p.F552S	.	412	1103	7	0	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0540066422837	0.0002	0.000399361	0.0009	0	0.0008	0.0002	0.0002	0.0006	0.0016	0.0049	0.0006339	98	154602	rs139852524	0.0006	0.0007	0.0005	0.0007	0.0036	0.0006	0.0006	0.0029	0.0027	3.875e-05	0.0004	0.0014	6.414e-05	0.0002	0.0036	0.0005	0.0005	0.0032	0.0005	0.0005	0.0005	0.0004	0.0012	0.0004	0.0003	0.0005	0.0005	4.827e-05	0	0.0003	0.0029	0.0002	0	0	0.0007	0	0.0012	0.369	0.11994	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.996466	0.43220	D	0.285	0.10073	N	0.28	0.71779	T	-1.03	0.27052	N	0.145	0.18649	-1.0524	0.13736	T	0.102	0.37743	T	9	0.0029435158	0.00048	T	0.054007	0.65690	D	0.097	0.27909	.	.	0.406120066682	0.40223	0.20138441311142394	0.20055	0.0472367716698	0.05146	.	.	.	0.038062	0.24707	T	-0.147208	0.28748	T	0.0133478	0.71198	D	0.0494956813126129	0.05410	T	0.848415	0.52967	T	0.19368392	0.41088	0.091901414	0.21630	0.19368392	0.41088	0.091901414	0.21629	-7.433	0.63344	T	.	.	0.121	0.25199	B	.;.;.;.	.;.;.;.	3.009034	0.40229	21.1	0.99533067784238916	0.70025	0.25685	0.22772	N	AEFDBHCI	0.157207	0.28268	N	-1.11066751158289	0.06452	0.2970673	-1.09274000645466	0.07842	0.3831098	0.9999999488501	0.74766	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.31	-5.37	0.02472	0.124000	0.15557	.	.	0.748000	0.86766	0.463000	0.26667	0.001000	0.17328	0.840000	0.39645	0.4342:0.0:0.435:0.1308	6.083	0.19173	814	0.42100	.;.;.;EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002020	0.005155	0.000000	0.000000	0.000000	0.008621	0.006135	0.003788	0.05	1116.43	33	chr4	681983	.	A	G	1116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=435;ExcessHet=0;FS=4.244;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-1.05;SOR=0.853	GT:AD:DP:GQ:PL	0/1:74,54:128:99:1128,0,1565	9	0	1	0
chr4	1728652	1728652	C	T	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon4:c.C1250T:p.P417L	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.034970673583	0.0012	0.000399361	0.0009	9.654e-05	0.0003	0	0.0003	0.0012	0.0033	0.0011	0.0008861	137	154602	rs78833872	0.0010	0.0010	0.0010	0.0010	0.0158	0.0009	0.0009	0.0132	0.0122	0.0002	0.0001	0.0006	2.519e-05	0.0002	0.0158	0.0010	0.0008	0.0013	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0	0.0006	0	9.425e-05	0	0.0009	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.057	0.22878	B	0.041	0.23986	B	0.065711	0.21861	N	0.371362	0.999594	0.47742	D	2.125	0.59049	M	1.58	0.29085	T	-7.5	0.95045	D	0.306	0.34552	-1.0482	0.14903	T	0.087	0.33718	T	10	0.044314265	0.03374	T	0.034971	0.56032	D	0.165	0.42395	.	.	0.423360453849	0.41956	0.17407832463137074	0.17326	0.0699481964536	0.07839	0.323778152466	0.13993	T	0.693531	0.91111	D	-0.409187	0.02013	T	-0.385172	0.35116	T	0.105140044146313	0.12913	T	0.661134	0.27033	T	0.13189697	0.30729	0.1775634	0.40366	0.13189697	0.30729	0.1775634	0.40366	-9.591	0.71424	D	.	.	0.175	0.38372	B	.	.	1.797417	0.22847	15.79	0.98922302618416713	0.48583	0.84100	0.43185	D	AEFBCI	0.139229	0.26076	N	-0.528331456379953	0.21168	1.121431	-0.550483610537848	0.20793	1.121933	0.999949768047237	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.4	2.75	0.31439	2.166000	0.42032	-1.004000	0.06636	-0.230000	0.07744	0.956000	0.33378	0.000000	0.08366	0.000000	0.00833	0.0:0.7874:0.0:0.2126	10.382	0.43302	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009073	0.010101	0.002717	0.032164	0.000000	0.025862	0.000000	0.003817	0.05	950.43	33	chr4	1728652	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.844;SOR=0.767	GT:AD:DP:GQ:PL	0/1:62,43:105:99:962,0,1512	9	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	206.6	131	chr4	2662992	.	G	C	206.6	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.757;DP=1100;ExcessHet=1.5895;FS=233.351;InbreedingCoeff=-0.3891;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.827;SOR=10.823	GT:AD:DP:GQ:PL	0/1:55,13:76:33:33,0,1879	4	0	4	2
chr4	2818245	2818245	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001145856:exon1:c.C22T:p.P8S	Cherubism, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.930354582242	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.22	0.78752	T	-0.19	0.09965	N	0.231	0.25989	-0.7665	0.57049	T	0.183	0.53148	T	9	0.30804557	0.48303	T	0.930355	0.99495	D	0.237	0.54074	0.279	0.23323	0.533469874242	0.52997	.	.	0.163403841518	0.18430	0.810317277908	0.83541	D	.	.	.	-0.0914834	0.37832	T	-0.369186	0.36982	T	0.282766431570053	0.24287	T	0.471653	0.14010	T	.	.	.	.	.	.	.	.	-3.393	0.14963	T	.	.	.	.	.	.	.	1.356460	0.17649	13.29	0.99252995052756954	0.56957	0.08110	0.14079	N	AEFDGBHCI	0.111429	0.22062	N	-0.420943966689194	0.24736	1.337771	-0.485437131216036	0.22554	1.225584	0.999999984545468	0.74766	0.495885	0.18260	0	0.218748	0.04544	0	0.166054	0.03999	2	0.554799	0.18163	0	.	.	1.73	1.73	0.23565	0.007000	0.13074	-0.048000	0.12582	-0.721000	0.03806	0.528000	0.27173	0.000000	0.08366	0.037000	0.13953	0.0:1.0:0.0:0.0	6.922	0.23574	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	39.79	.	chr4	2818245	.	C	T	39.79	.	AC=2;AF=0.25;AN=8;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.9;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	6
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	318.53	59	chr4	3074927	.	G	*	318.53	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.674;DP=412;ExcessHet=0.2065;FS=1.59;InbreedingCoeff=0.1213;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=-0.126;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,14:41:99:1|0:3074876_CCAG_C:476,0,1074:3074876	6	0	3	1
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:93,35:128:99:237,0,2096	1	0	9	0
chr4	9210670	9210670	C	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C14T:p.S5L	.	643	861	18	0	0	18	0.0103448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00184707356736	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340593482	0.0044	0.0051	0.0048	0.0041	0.0120	0.0043	0.0042	0.0102	0.0095	0.0120	0.0037	0.0085	0	0.0011	0.0097	0.0050	0.0053	0.0009	0.0017	0.0036	0.0013	0.0021	0.0052	0.0013	0.0011	0.0030	0.0024	0.0052	0	0.0003	0.0079	0	0.0009	0	0.0015	0	0	0.031	0.47320	D	0.125	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.085	0.57729	M	2.52	0.14160	T	-2.73	0.58085	D	0.323	0.37509	-0.9818	0.34585	T	0.025	0.10821	T	6	0.033656865	0.01548	T	0.001847	0.03219	T	0.036	0.09122	.	.	0.322786055943	0.31880	0.04579852210910664	0.04523	.	.	0.514024615288	0.40785	T	0.087941	0.38051	T	-0.24461	0.14766	T	-0.589142	0.13739	T	0.15483632683754	0.17481	T	0.769523	0.39899	T	0.10880445	0.25726	0.19436768	0.43056	0.10880445	0.25726	0.19436768	0.43055	-3.227	0.12813	T	.	.	0.121	0.25000	B	.;.	.;.	1.973377	0.25071	16.63	0.99044905824973817	0.51118	0.00327	0.01711	N	AEFI	0.028088	0.02410	N	-0.726527465281989	0.15278	0.7685985	-0.904519714212325	0.11988	0.614034	1.10929142332891E-6	0.01202	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	0.343000	0.19686	.	.	0.397000	0.20528	0.862000	0.30648	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	394.78	33	chr4	9210670	.	C	T	394.78	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.587;DP=810;ExcessHet=0;FS=0.501;MLEAC=1;MLEAF=0.063;MQ=33.23;MQRankSum=3.39;QD=1.02;ReadPosRankSum=2.06;SOR=0.621	GT:AD:DP:GQ:PL	0/1:324,64:388:99:405,0,7336	7	0	1	2
chr4	9211845	9211845	G	A	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1189A:p.E397K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00139595167932	.	.	0.0003	0	0.0034	0	0	0	0	0	7.68e-05	2	26028	rs371252430	2.614e-05	0.0005	5.338e-05	0	0.0002	1.039e-05	7.17e-06	3.105e-05	1.285e-05	0	0.0002	0	0	0	0	2.413e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.109	0.30235	T	0.433	0.13832	T	.	.	.	.	.	.	.	.	.	.	0.999931	0.19363	N	1.085	0.27262	L	0.8	0.48769	T	-1.11	0.34198	N	0.16	0.17416	-0.9772	0.35638	T	0.120	0.42015	T	5	0.01729542	0.00368	T	0.001396	0.02037	T	0.015	0.02232	0.453	0.51612	0.0806252709748	0.07271	0.009975585883841379	0.00959	.	.	0.537613272667	0.44108	T	0.005585	0.05032	T	-0.274341	0.11279	T	-0.631848	0.10275	T	0.0418710922667544	0.04031	T	0.653935	0.26417	T	0.1187723	0.27977	0.11002147	0.26524	0.1187723	0.27977	0.11002147	0.26524	-3.885	0.22077	T	.	.	0.087	0.11172	B	.;.	.;.	1.276994	0.16762	12.75	0.9267756965072883	0.22162	0.01135	0.04122	N	AEFI	0.024659	0.01562	N	-0.740137483683515	0.14903	0.7463763	-0.971304394705442	0.10433	0.5254308	3.04856071153045E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	1.800000	0.38469	.	.	0.443000	0.21123	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	40.47	.	chr4	9211845	.	G	A	40.47	.	AC=2;AF=0.333;AN=6;DP=52;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=42.5;QD=20.23;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	7
chr4	15986020	15986020	A	C	exonic	PROM1	.	nonsynonymous SNV	PROM1:NM_001145851:exon19:c.T2121G:p.I707M,PROM1:NM_001145847:exon20:c.T2121G:p.I707M,PROM1:NM_001145848:exon20:c.T2121G:p.I707M,PROM1:NM_001145849:exon20:c.T2148G:p.I716M,PROM1:NM_001145852:exon20:c.T2121G:p.I707M,PROM1:NM_001371406:exon20:c.T2121G:p.I707M,PROM1:NM_001371407:exon20:c.T2121G:p.I707M,PROM1:NM_001371408:exon20:c.T2121G:p.I707M,PROM1:NM_001145850:exon21:c.T2148G:p.I716M,PROM1:NM_006017:exon21:c.T2148G:p.I716M	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.017537421403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.992	0.64738	D	0.944	0.68059	D	0.018999	0.27357	N	0.406202	1	0.08975	N	1.75	0.45442	L	0.83	0.47815	T	-1.78	0.42001	N	0.298	0.33904	-0.9606	0.39068	T	0.171	0.51165	T	10	0.5576179	0.64607	D	0.017537	0.39279	T	0.201	0.48592	0.627	0.76254	0.388653054685	0.38476	0.34058359936447224	0.33971	0.11670823845	0.13163	0.346663355827	0.17429	T	0.377663	0.74080	T	-0.149123	0.28450	T	-0.451982	0.27477	T	0.426029413938522	0.29914	T	0.751925	0.37414	T	0.1218354	0.28642	0.09953435	0.23768	0.1218354	0.28642	0.09953435	0.23768	-5.062	0.38676	T	0.6076310299813412	0.67501	0.194	0.41526	B	.;.;.;.;.;.	.;.;.;.;.;.	1.968591	0.25009	16.61	0.96729301911706378	0.30880	0.08555	0.14468	N	AEFBI	0.141348	0.26350	N	-0.249042357395144	0.31142	1.743265	-0.472178478423286	0.22925	1.24755	0.751548245875112	0.23368	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.14	0.88	0.18296	0.358000	0.19952	0.863000	0.22246	-0.043000	0.17390	0.035000	0.20724	0.000000	0.08366	0.001000	0.02609	0.2557:0.2659:0.3393:0.1391	1.205	0.01777	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1356.43	48	chr4	15986020	.	A	C	1356.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=499;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.899;SOR=0.925	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1368,0,941	9	0	1	0
chr4	25333308	25333308	C	A	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon4:c.C455A:p.T152N,ZCCHC4:NM_024936:exon4:c.C455A:p.T152N	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00884779547999	0.0010	0.000199681	0.0008	0	0.0003	0	0.0002	0.0014	0	0.0002	0.0007891	122	154602	rs201877101	0.0010	0.0010	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	8.961e-05	0.0004	0	0	0.0002	0.0031	0.0013	0.0009	0.0001	0.0008	0.0008	0.0008	0.0007	0.0014	0.0006	0.0006	0.0011	0.0011	0.0002	0	0.0003	0	0	0.0004	0.0034	0.0014	0.0019	0.0002	0.59	0.05808	T	0.54	0.48080	T	0.016	0.17332	B	0.003	0.08700	B	0.863740	0.07132	N	1.057890	1	0.08975	N	1.95	0.52479	M	1.99	0.21666	T	0.1	0.05810	N	0.318	0.35832	-1.0213	0.23292	T	0.088	0.34023	T	10	0.020593226	0.00477	T	0.008848	0.23342	T	0.031	0.07369	.	.	0.101711395817	0.09552	0.3344747409344798	0.33360	0.0918701911959	0.10371	0.373358607292	0.21313	T	0.002066	0.01471	T	-0.552857	0.00280	T	-0.596997	0.13065	T	0.00995411128314422	0.00132	T	0.780822	0.41560	T	0.0989085	0.23335	0.04829016	0.07141	0.0989085	0.23335	0.04829016	0.07140	-3.768	0.20327	T	.	.	0.083	0.22428	B	.;.	.;.	0.065364	0.04751	1.375	0.21358619256574266	0.00810	0.17689	0.19945	N	AEFBI	0.091720	0.18575	N	-0.668885415125432	0.16912	0.8658282	-0.759826466199451	0.15481	0.8144119	0.003958862217823	0.10355	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.75	2.13	0.26445	0.857000	0.27486	1.364000	0.25903	-0.804000	0.03133	0.000000	0.06391	0.001000	0.17328	0.034000	0.13613	0.1182:0.5928:0.2274:0.0616	7.478	0.26554	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.006793	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1147.43	33	chr4	25333308	.	C	A	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=439;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.925;SOR=0.617	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1159,0,1830	9	0	1	0
chr4	36229221	36229221	G	A	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C266T:p.P89L	.	434	1056	30	2	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0110	0.00559105	0.0086	0.0098	0.0030	0.0001	0.0115	0.0117	0.0110	0.0025	0.0087062	1346	154602	rs35822395	0.0098	0.0098	0.0099	0.0097	0.0154	0.0096	0.0096	0.0129	0.0119	0.0117	0.0053	0.0047	0.0001	0.0122	0.0154	0.0109	0.0082	0.0023	0.0096	0.0096	0.0096	0.0095	0.0111	0.0092	0.0090	0.0104	0.0102	0.0103	0.0121	0.0062	0.0040	0	0.0105	0.0102	0.0111	0.0128	0.0027	0.094	0.31383	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.01387	B	0.251344	0.03649	N	1.525240	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.94	0.25118	N	0.061	0.03283	-1.0306	0.20260	T	0.065	0.26948	T	10	0.0031697154	0.00053	T	.	.	.	0.095	0.27398	.	.	0.18995819373	0.18626	0.22016445479524357	0.21932	0.0250879662362	0.02552	0.228219985962	0.01839	T	0.003592	0.03000	T	-0.606973	0.00132	T	-0.63362	0.10141	T	0.00335767895251557	0.00035	T	0.79622	0.43953	T	0.036733206	0.04575	0.042625476	0.05121	0.036733206	0.04575	0.042625476	0.05120	-2.329	0.04716	T	.	.	0.063	0.01512	B	.	.	1.312951	0.17162	13.00	0.87722954674072384	0.17433	0.11363	0.16584	N	AEFGBI	0.068065	0.13411	N	-0.786696905977772	0.13656	0.6743126	-0.697816327164889	0.17015	0.902815	0.998985095291289	0.38135	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	2.77	0.31614	0.525000	0.22664	1.428000	0.26422	0.672000	0.70159	0.000000	0.06391	0.001000	0.17328	0.870000	0.41412	0.0782:0.1297:0.4379:0.3542	4.300	0.10364	726	0.54788	.	.	.	.	.	rs35822395	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1664.43	35	chr4	36229221	.	G	A	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.063;DP=428;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.324;SOR=0.635	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1676,0,1584	9	0	1	0
chr4	36290704	36290704	G	T	splicing	DTHD1	NM_001136536:exon2:c.348+1G>T;NM_001170700:exon3:c.1218+1G>T;NM_001378435:exon2:c.348+1G>T	.	.	.	458	1062	2	0	0	2	0.000940734	1.0000	0.872	.	960537	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0007	0	0.0006	8.41e-05	13	154602	rs201876616	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0003	0.0044	0.0038	0.0002	0.0003	0.0018	0	0	0.0060	0.0003	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0001	0.0006	0	0	0.0032	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0400978	0.45933	T	0.0207819	0.71680	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.824565	0.78608	26.9	0.99182634738568465	0.54730	0.98683	0.85537	D	AEFDGI	.	.	.	0.966305751486612	0.94611	12.89425	0.766497122776446	0.87384	9.203458	0.999999994576326	0.74766	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.956066	0.63648	5.25	5.25	0.73169	5.213000	0.65064	9.716000	0.81349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0:0.0:1.0:0.0	18.867	0.92268	687	0.59234	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	910.43	48	chr4	36290704	.	G	T	910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.047;DP=409;ExcessHet=0;FS=8.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-0.565;SOR=0.088	GT:AD:DP:GQ:PL	0/1:15,34:49:99:922,0,427	9	0	1	0
chr4	37848627	37848627	A	G	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon11:c.A1388G:p.Q463R	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0179435365599	.	0.000199681	0.0004	0	0	0	0	1.5e-05	0	0.0026	0.0002846	44	154602	rs556251474	0.0002	0.0002	7.761e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.799e-05	0.0002	0.0022	5.907e-05	5.905e-05	1.285e-05	0.0001	0.0017	3.074e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.01	0.56456	D	0.09	0.40267	T	0.222	0.30359	B	0.392	0.44215	B	0.000008	0.62929	D	0.150619	0.998299	0.44734	D	2.64	0.77224	M	0.9	0.45248	T	-2.4	0.52776	N	0.624	0.63883	-0.6498	0.62723	T	0.230	0.59534	T	10	0.043755174	0.03258	T	0.017944	0.39831	T	0.218	0.51265	0.504	0.59770	0.708901879958	0.70636	0.7712569068279075	0.77075	0.080742506992	0.09089	0.491530299187	0.37650	T	0.814299	0.95392	D	-0.371276	0.03529	T	-0.311946	0.43448	T	0.269536168673879	0.23727	T	0.845215	0.52386	T	0.28094992	0.51139	0.34806928	0.60452	0.28094992	0.51139	0.34806928	0.60452	-7.571	0.58108	D	.	.	0.126	0.26825	B	.	.	3.645730	0.51717	23.1	0.99652832905394506	0.77442	0.97920	0.78131	D	AEFBI	0.851304	0.76816	D	0.330193387856091	0.57704	3.938832	0.372561111708039	0.59878	4.169591	0.999989455438125	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.69	4.48	0.53973	5.988000	0.70255	9.179000	0.79071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8731:0.0:0.0:0.1269	12.296	0.54164	802	0.44336	Alpha-D-phosphohexomutase, alpha/beta/alpha domain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	960.43	34	chr4	37848627	.	A	G	960.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.238;DP=388;ExcessHet=0;FS=3.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.131;SOR=0.391	GT:AD:DP:GQ:PL	0/1:31,40:71:99:972,0,925	9	0	1	0
chr4	68568306	68568306	G	A	exonic	UGT2B17	.	nonsynonymous SNV	UGT2B17:NM_001077:exon2:c.C179T:p.A60V	.	624	894	3	1	0	5	0.00278862	.	.	.	2345001	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.00448069880285	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	7.12e-05	11	154602	rs771241716	5.755e-05	5.257e-05	4.587e-05	6.949e-05	0.0011	4.665e-05	4.287e-05	0.0004	0.0003	0	0	0	0	0	0.0011	4.624e-05	7.846e-05	0.0003	6.299e-05	6.071e-05	6.036e-05	6.585e-05	0.0003	3.104e-05	2.252e-05	1.332e-05	6.69e-06	2.692e-05	0	8.008e-05	0	0	0	0.0039	5.021e-05	0.0006	0.0003	0.134	0.26300	T	0.385	0.15746	T	.	.	.	.	.	.	0.104652	0.19693	U	0.394418	1	0.08975	N	1.96	0.53105	M	0.09	0.61443	T	-2.53	0.54864	D	0.078	0.05287	-0.9862	0.33542	T	0.096	0.36133	T	8	0.10189769	0.18645	T	0.004481	0.11000	T	0.126	0.34673	0.603	0.73466	0.345405024496	0.34151	0.07451659606578621	0.07387	0.250270989857	0.27603	0.31972938776	0.13379	T	0.052915	0.29296	T	-0.220454	0.17930	T	-0.554443	0.16902	T	0.0626359724674085	0.07577	T	0.29997	0.05606	T	0.06266443	0.13112	0.07537488	0.16589	0.06266443	0.13111	0.07537488	0.16588	-5.648	0.43228	T	.	.	0.229	0.46203	B	.	.	0.810102	0.11810	8.381	0.77545488100312676	0.11921	0.06733	0.12755	N	AEFI	0.093122	0.18845	N	-1.09052872889277	0.06816	0.3148882	-1.25986373344508	0.04986	0.2365643	1.84389770610933E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.66	-1.8	0.07480	1.114000	0.30811	.	.	0.540000	0.25189	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.4552:0.0:0.5448:0.0	7.561	0.27017	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001138	0.000000	0.000000	0.008000	0.000000	0.000000	0.000000	0.000000	0.08333	2859.55	35	chr4	68568306	.	G	A	2859.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.879;DP=746;ExcessHet=0;FS=2.13;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=-1.036;QD=11.21;ReadPosRankSum=-0.366;SOR=0.556	GT:AD:DP:GQ:PL	0/1:133,122:255:99:2868,0,3482	5	0	1	4
chr4	76741208	76741208	C	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.C3035A:p.T1012N	.	416	1072	30	4	0	38	0.0174152	.	.	.	1195967	SHROOM3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.164	.	0.0053	0.00399361	0.0108	0.0029	0.0116	0	0.0073	0.0157	0.0091	0.0025	0.0058085	898	154602	rs147732653	0.0079	0.0079	0.0079	0.0078	0.0182	0.0078	0.0077	0.0154	0.0143	0.0022	0.0061	0.0106	2.538e-05	0.0035	0.0182	0.0089	0.0076	0.0027	0.0069	0.0069	0.0072	0.0065	0.0102	0.0065	0.0064	0.0096	0.0093	0.0019	0.0910	0.0062	0.0101	0	0.0029	0.0068	0.0102	0.0057	0.0031	0.001	0.78490	D	0.012	0.63918	D	0.984	0.60733	D	0.773	0.56974	P	0.041546	0.23937	N	0.340109	0.999994	0.08975	N	3.185	0.88900	M	0.34	0.58176	T	-3.84	0.72240	D	0.192	0.21056	-0.8547	0.51641	T	0.143	0.46404	T	10	0.0043590963	0.00089	T	.	.	.	0.164	0.42212	.	.	0.637225044583	0.63424	0.512869637631478	0.51208	0.411460119026	0.41898	0.801779985428	0.82234	T	0.488677	0.81421	T	-0.414511	0.01856	T	-0.358798	0.38191	T	0.0948631797115012	0.11782	T	0.668933	0.27951	T	0.53986067	0.69389	0.3622313	0.61632	0.53986067	0.69390	0.3622313	0.61632	-10.292	0.75642	D	.	.	0.202	0.42606	B	.;.	.;.	2.691383	0.35134	19.82	0.95082975117599788	0.26136	0.89839	0.50567	D	AEFDBI	0.232881	0.35589	N	0.056243779734306	0.44431	2.717215	-0.150118930678099	0.33403	1.910418	0.999976932169537	0.50053	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.74	0.952	0.18708	3.170000	0.50516	1.998000	0.30109	0.522000	0.23927	0.991000	0.37257	0.959000	0.29258	0.798000	0.37648	0.136:0.6392:0.0:0.2248	5.749	0.17404	583	0.69484	Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1	.	.	.	.	rs147732653	Likely benign	0	0	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	0.015672	0.005102	0.014986	0.032353	0.000000	0.017544	0.006135	0.015152	0.05	1096.43	37	chr4	76741208	.	C	A	1096.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=436;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.204;SOR=0.754	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1108,0,951	9	0	1	0
chr4	80202025	80202025	G	A	exonic	PRDM8	.	nonsynonymous SNV	PRDM8:NM_001099403:exon4:c.G563A:p.S188N,PRDM8:NM_020226:exon10:c.G563A:p.S188N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0219563630301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.14017	T	0.339	0.31225	T	0.002	0.09854	B	0.003	0.08700	B	0.009462	0.30346	N	0.310791	0.994056	0.23596	N	0.55	0.14455	N	-0.13	0.64818	T	-0.61	0.21215	N	0.032	0.01135	-1.0400	0.17313	T	0.106	0.38685	T	10	0.09371489	0.16605	T	0.021956	0.44796	T	0.059	0.16972	0.268	0.21576	0.540243489925	0.53678	0.1834780333960255	0.18266	.	.	0.487673968077	0.37117	T	0.015349	0.12895	T	-0.145333	0.29045	T	-0.446537	0.28079	T	0.106784842908382	0.13087	T	0.549745	0.18930	T	0.040214397	0.05699	0.09220452	0.21717	0.040214397	0.05699	0.09220452	0.21717	-10.125	0.74657	D	0.19038339666474186	0.24939	0.106	0.19839	B	.;.;.;.	.;.;.;.	1.610437	0.20578	14.81	0.77640063751273458	0.11960	0.81937	0.41245	D	ALL	0.201723	0.32836	N	-0.761277221412938	0.14329	0.7128669	-0.656843935543807	0.18044	0.9621999	0.999999999985045	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	4.99	4.13	0.47661	2.395000	0.44113	2.756000	0.34570	0.614000	0.49286	0.359000	0.25834	0.999000	0.35428	0.175000	0.21139	0.1756:0.0:0.8244:0.0	8.821	0.34186	723	0.55174	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1888.43	41	chr4	80202025	.	G	A	1888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.598;DP=576;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.917;SOR=1.097	GT:AD:DP:GQ:PL	0/1:96,80:176:99:1900,0,2437	9	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.6	47	chr4	82485718	.	G	C	56.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.194;DP=377;ExcessHet=2.8389;FS=96.99;InbreedingCoeff=-0.2826;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.092;SOR=7.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,11:38:1:.:.:1,0,408:.	5	0	5	0
chr4	86762736	86762736	C	T	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon21:c.C2990T:p.T997I,PTPN13:NM_006264:exon23:c.C3506T:p.T1169I,PTPN13:NM_080683:exon24:c.C3563T:p.T1188I,PTPN13:NM_080685:exon24:c.C3563T:p.T1188I	.	2	1518	2	0	0	2	0.000658328	.	.	.	4008113	PTPN13-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0401100475391	0.0012	0.000399361	0.0015	0.0005	0.0002	0	0.0002	0.0022	0.0023	0.0014	0.0015653	242	154602	rs186651045	0.0023	0.0023	0.0024	0.0022	0.0029	0.0022	0.0022	0.0028	0.0027	0.0002	0.0003	3.866e-05	0	0.0002	0.0005	0.0029	0.0015	0.0007	0.0012	0.0012	0.0013	0.0011	0.0022	0.0011	0.0010	0.0019	0.0018	0.0005	0.0022	0.0004	0	0	0	0	0.0022	0.0019	0.0004	0.01	0.59928	D	0.046	0.56192	D	0.82	0.77913	P	0.195	0.82059	B	0.002865	0.35804	N	0.124956	0.937571	0.27028	N	2.19	0.61577	M	0.57	0.54347	T	-1.76	0.45949	N	0.132	0.22098	-0.8047	0.54867	T	0.206	0.56417	T	10	0.010615259	0.00236	T	0.04011	0.59190	D	0.064	0.18567	.	.	0.721383868242	0.71892	0.22129676433295464	0.22045	0.0637969857474	0.07108	0.350435614586	0.17985	T	0.08686	0.37816	T	-0.448569	0.01152	T	-0.414781	0.31675	T	0.015412016293212	0.00345	T	0.884811	0.61924	D	0.11523414	0.27195	0.11731227	0.28320	0.11523414	0.27194	0.11731227	0.28320	-3.972	0.25730	T	.	.	0.128	0.28578	B	.;.;.;.;.	.;.;.;.;.	3.603129	0.50905	23.0	0.99859026863442002	0.93729	0.93949	0.59660	D	AEFGBHI	0.256523	0.37543	N	0.325381156441538	0.57454	3.912841	0.381508301421835	0.60424	4.22997	0.571248895938856	0.21494	0.736574	0.97449	0	0.546412	0.12157	0	0.732669	0.93749	0	0.567892	0.33627	0	.	.	5.47	5.47	0.80345	1.729000	0.37737	5.951000	0.51650	0.599000	0.40250	0.977000	0.34929	1.000000	0.68203	0.991000	0.66497	0.1261:0.6809:0.193:0.0	11.292	0.48494	855	0.34697	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.05	1124.43	36	chr4	86762736	.	C	T	1124.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.578;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.487;SOR=0.628	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1136,0,1271	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5581.44	43	chr4	87615730	.	ATAG	*	5581.44	.	AC=8;AF=0.4;AN=20;DP=390;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=58.11;QD=19.52;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,25:25:77:.:.:986,77,0:.	4	2	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4265.86	19	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4265.86	.	AC=8;AF=0.4;AN=20;DP=428;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=57.76;QD=20.22;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,25:25:77:.:.:986,77,0:.	4	2	4	0
chr4	88278508	88278508	G	A	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon2:c.C76T:p.R26C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00498902464242	.	.	8.256e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs760164545	5.472e-06	5.472e-06	5.445e-06	5.5e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.239	0.17761	T	0.082	0.45110	T	0.001	0.07471	B	0.0	0.01387	B	0.005746	0.32538	N	0.328929	0.96835	0.38654	D	1.245	0.31408	L	1.9	0.23486	T	-0.96	0.25551	N	0.249	0.32812	-1.0804	0.07272	T	0.063	0.26101	T	10	0.12448421	0.23644	T	0.004989	0.12598	T	0.146	0.38789	0.496	0.58520	0.282575091529	0.27877	0.6931994197547087	0.69259	0.352968742451	0.37116	0.346081227064	0.17344	T	0.094335	0.39395	T	-0.121437	0.32888	T	-0.396727	0.33764	T	0.399813920259476	0.28935	T	0.840716	0.51609	T	0.07281173	0.16224	0.039855696	0.04174	0.07281173	0.16224	0.039855696	0.04173	-5.573	0.42545	T	.	.	0.116	0.25560	B	.;.;.;.	.;.;.;.	3.372048	0.46602	22.3	0.99165189833577094	0.54212	0.87334	0.46841	D	AEFDGBI	0.366019	0.45398	N	-0.348263781191173	0.27336	1.49897	-0.172037474522645	0.32571	1.854325	0.999990423282223	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	4.31	3.43	0.38372	2.716000	0.46888	2.747000	0.34506	0.524000	0.24156	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0953:0.0:0.7127:0.192	6.380	0.20735	677	0.60274	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1828.43	33	chr4	88278508	.	G	A	1828.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=439;ExcessHet=0;FS=4.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-1.849;SOR=1.157	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1840,0,1484	9	0	1	0
chr4	88463905	88463905	T	A	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon6:c.T831A:p.H277Q	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.0731254118467	7.7e-05	.	0.0002	0	8.637e-05	0	0	0.0001	0.0022	0.0004	0.0001294	20	154602	rs374092530	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0005	0.0004	5.974e-05	4.472e-05	0.0015	0	0	0.0005	6.925e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	7.093e-05	5.749e-05	0.0002	9.003e-05	0	0	0	0.0009	0	0	0.0032	0.0001	0.0005	0.0006	0.11	0.29158	T	0.154	0.32040	T	0.981	0.59675	D	0.903	0.64103	P	0.000131	0.49741	D	0.085303	0.969353	0.25758	N	1.715	0.44382	L	-1.89	0.84557	D	-6.05	0.89796	D	0.564	0.58798	0.139	0.84857	D	0.643	0.87548	D	10	0.4694933	0.59774	T	0.073125	0.71708	D	0.539	0.80723	0.255	0.19533	0.876783370928	0.87557	0.6004895382415155	0.59979	0.635353057101	0.57353	0.529098510742	0.42907	T	0.576571	0.86067	D	-0.154128	0.27668	T	-0.122912	0.61562	T	0.204001224069152	0.20635	T	0.767723	0.39623	T	0.49505675	0.66804	0.5729927	0.75268	0.49505675	0.66804	0.5729927	0.75269	-9.627	0.71647	D	.	.	0.648	0.70824	P	.	.	3.432308	0.47710	22.5	0.98746976734076564	0.45602	0.74618	0.36507	D	AEBI	0.214985	0.34039	N	0.119246842695716	0.47361	2.962871	0.0286865387529709	0.41052	2.460004	0.991335195852194	0.32453	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.586402	0.36253	0	.	.	4.75	0.949	0.18691	0.924000	0.28378	0.092000	0.14529	-0.218000	0.08083	1.000000	0.71638	0.951000	0.29025	0.893000	0.43066	0.0:0.6063:0.0:0.3937	8.965	0.35031	767	0.49651	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1703.43	34	chr4	88463905	.	T	A	1703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=462;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.062;SOR=0.666	GT:AD:DP:GQ:PL	0/1:70,77:147:99:1715,0,1637	9	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:75,28:103:99:114,0,1298	2	0	8	0
chr4	100188008	100188008	A	C	exonic	DDIT4L	.	nonsynonymous SNV	DDIT4L:NM_145244:exon3:c.T251G:p.L84R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.0630077477074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	0	8.251e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999988	0.54805	D	3.03	0.86425	M	-0.14	0.65006	T	-5.7	0.87380	D	0.961	0.97095	-0.0173	0.81894	T	0.455	0.78767	T	10	0.9752732	0.97270	D	0.063008	0.68834	D	0.803	0.93582	0.928	0.98837	0.813559840145	0.81180	0.8903778008941422	0.89007	0.255190819424	0.28107	0.687678456306	0.65372	T	0.41923	0.77132	T	0.360591	0.87299	D	0.280187	0.87134	D	0.998958706855774	0.95694	D	0.846715	0.52677	T	0.93715274	0.94958	0.93433136	0.97390	0.93715274	0.94958	0.93433136	0.97391	-4.425	0.29894	T	.	.	0.927	0.88466	P	.;.;.	.;.;.	4.685936	0.75034	26.3	0.99780696413864756	0.86780	0.97336	0.74107	D	AEFDBI	0.883507	0.81248	D	0.836884114925841	0.88347	9.545	0.804222468210533	0.90084	10.24981	0.999999966432299	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	7.488000	0.80254	10.877000	0.84036	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.852	0.69943	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	2472.43	44	chr4	100188008	.	A	C	2472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.168;DP=479;ExcessHet=0;FS=3.106;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=0.036;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,64:130:99:0|1:100188004_G_C:2484,0,2533:100188004	9	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:97,31:128:54:54,0,1869	3	0	7	0
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.05	1498.43	34	chr4	112430694	.	A	G	1498.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.35;SOR=0.693	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1510,0,1465	9	0	1	0
chr4	121037318	121037318	T	C	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.A653G:p.E218G	.	434	1078	10	0	0	10	0.00461681	.	.	.	2358496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.307	0.0693982472715	0.0004	0.000199681	0.0004	0	0.0002	0	0	0.0006	0	0.0002	0.0003169	49	154602	rs202221151	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0003	0.0006	0.0004	5.974e-05	0.0004	0.0007	0	0	0.0012	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.22e-05	0	6.542e-05	0.0006	0	0	0.0034	0.0004	0	0.0004	0.032	0.44694	D	0.031	0.53788	D	0.801	0.45051	P	0.402	0.44547	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.51	0.55439	T	-1.49	0.36385	N	0.659	0.66873	-0.7235	0.59289	T	0.195	0.54884	T	10	0.2939554	0.46969	T	0.069398	0.70720	D	0.307	0.62838	.	.	0.693223118719	0.69058	0.48719642202084257	0.48639	0.405051829818	0.41395	0.571962833405	0.48956	T	0.053492	0.29459	T	-0.0656412	0.42021	T	0.0196531	0.71607	D	0.0680517926812172	0.08376	T	0.877212	0.59013	D	0.26235542	0.49297	0.26919973	0.52798	0.26235542	0.49297	0.26919973	0.52797	-6.012	0.46381	T	.	.	0.341	0.56005	A	.	.	4.112589	0.61406	24.3	0.99865283573826469	0.94366	0.98381	0.82198	D	AEFBI	0.962032	0.98349	D	0.540954148363099	0.69532	5.370481	0.603079814465716	0.75163	6.262258	0.999999843032711	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	7.990000	0.87862	6.191000	0.54767	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.954	0.79660	827	0.39843	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.017241	0.009146	0.007576	0.05	1852.43	133	chr4	121037318	.	T	C	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.46;DP=1137;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.365;SOR=0.699	GT:AD:DP:GQ:PL	0/1:70,70:140:99:1864,0,1847	9	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	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,26:69:99:0|1:140563137_C_G:232,0,1132:140563137	1	0	9	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	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,26:69:99:0|1:140563137_C_G:232,0,1132:140563137	0	0	9	1
chr4	151103023	151103023	G	A	exonic	RPS3A	.	nonsynonymous SNV	RPS3A:NM_001006:exon4:c.G507A:p.M169I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00686029040995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436635204	6.902e-07	6.84e-07	1.374e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.577e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.268	0.23095	T	0.408	0.18178	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	1.32	0.33002	L	.	.	.	0.14	0.07444	N	0.637	0.67391	-1.0242	0.22344	T	0.117	0.41320	T	8	0.34009916	0.51084	T	0.00686	0.18149	T	0.334	0.65620	0.408	0.44230	0.627663019148	0.62462	0.7306565370976658	0.73010	1.13218365852	0.78658	0.869548678398	0.92504	D	0.147248	0.48524	T	0.068823	0.60705	T	-0.138917	0.60212	T	0.846623420715332	0.49877	D	0.847115	0.53695	T	0.28637308	0.51653	0.41686863	0.65758	0.28637308	0.51653	0.41686863	0.65758	-3.573	0.17467	T	.	.	0.617	0.73107	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.243576	0.64354	24.7	0.98778506812740785	0.46096	0.98938	0.88891	D	AEFBCI	0.957422	0.97660	D	-0.00885846253619124	0.41453	2.479791	0.217608414180812	0.50825	3.270524	0.999999999999999	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.89	4.89	0.63387	9.855000	0.98396	11.532000	0.93092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.476	0.90742	639	0.64210	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	81.14	35	chr4	151103023	.	G	A	81.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.728;DP=499;ExcessHet=0.2348;FS=90.595;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.61;MQRankSum=-0.997;QD=0.55;ReadPosRankSum=2.05;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,16:78:31:.:.:31,0,1250:.	8	0	2	0
chr4	153627657	153627657	G	C	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon31:c.G4177C:p.A1393P,TMEM131L:NM_015196:exon31:c.G4174C:p.A1392P	.	418	1060	41	3	0	47	0.021689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0101	0.00898562	0.0070	0.0139	0.0059	0	0.0003	0.0068	0.0110	0.0107	0.0070051	1083	154602	rs35543386	0.0070	0.0070	0.0068	0.0072	0.0236	0.0069	0.0068	0.0204	0.0192	0.0171	0.0076	0.0002	7.557e-05	0.0009	0.0236	0.0068	0.0079	0.0126	0.0098	0.0098	0.0095	0.0100	0.0174	0.0094	0.0092	0.0164	0.0160	0.0174	0	0.0131	0	0.0002	0.0002	0.0272	0.0070	0.0123	0.0100	0.111	0.29029	T	0.254	0.23433	T	0.918	0.53992	P	0.432	0.51908	B	0.079920	0.20955	N	0.510995	0.904796	0.27629	N	1.905	0.50856	L	2.39	0.19588	T	-1.58	0.38151	N	0.18	0.30574	-1.1150	0.02673	T	0.033	0.14073	T	10	0.0036915839	0.00068	T	.	.	.	0.056	0.15993	.	.	0.128874641272	0.12493	0.3607456332118572	0.35988	0.448003017577	0.44648	0.317208051682	0.12997	T	0.005717	0.18437	T	-0.587468	0.00174	T	-0.602353	0.12615	T	0.0279178617237596	0.01677	T	0.877812	0.59215	D	0.2115418	0.43482	0.22197399	0.47026	0.2115418	0.43481	0.22197399	0.47025	-3.541	0.17010	T	.	.	0.104	0.23675	B	.;.;.	.;.;.	1.853712	0.23552	16.06	0.98675804788432819	0.44539	0.88046	0.47806	D	AEFBCI	0.333054	0.43226	N	0.107246852498997	0.46800	2.914933	0.0520436456802148	0.42170	2.546096	0.999547907962721	0.40300	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.79	0.60909	3.431000	0.52582	1.482000	0.26828	0.676000	0.76740	0.988000	0.36536	0.912000	0.28152	0.019000	0.11356	0.0764:0.0:0.9236:0.0	12.522	0.55413	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.015152	0.019022	0.029240	0.000000	0.008621	0.027439	0.015152	0.05	1913.43	34	chr4	153627657	.	G	C	1913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.364;DP=468;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.3;SOR=0.537	GT:AD:DP:GQ:PL	0/1:80,79:159:99:1925,0,2058	9	0	1	0
chr4	168275458	168275458	C	T	exonic	DDX60	.	nonsynonymous SNV	DDX60:NM_017631:exon16:c.G2191A:p.V731I	.	432	1081	6	3	0	12	0.00551978	.	.	.	2820259	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.0144953495856	0.0041	0.000599042	0.0039	0.0011	0.0054	0	0.0055	0.0048	0.0067	0.0027	0.0037904	586	154602	rs17853802	0.0046	0.0046	0.0045	0.0046	0.0051	0.0045	0.0044	0.0050	0.0049	0.0006	0.0045	0.0009	2.524e-05	0.0057	0.0023	0.0051	0.0037	0.0029	0.0040	0.0040	0.0040	0.0040	0.0068	0.0037	0.0036	0.0063	0.0061	0.0007	0	0.0032	0.0009	0	0.0048	0	0.0068	0.0043	0.0017	0.43	0.09543	T	0.493	0.11443	T	0.018	0.17786	B	0.015	0.17295	B	0.078053	0.21067	N	0.440664	0.999975	0.18612	N	0.39	0.12200	N	2.4	0.15608	T	-0.43	0.14390	N	0.069	0.04188	-0.9938	0.31617	T	0.017	0.06950	T	10	0.0035449564	0.00064	T	0.014495	0.34657	T	0.011	0.01250	.	.	0.137902524267	0.13322	0.12448782424348202	0.12374	0.131275834207	0.14802	0.24141561985	0.02919	T	0.003285	0.02687	T	-0.742999	0.00020	T	-0.828366	0.01291	T	4.27490194851998e-05	0.00000	T	0.493251	0.15238	T	0.02144217	0.00746	0.025741957	0.00631	0.02144217	0.00746	0.025741957	0.00630	-4.076	0.24935	T	.	.	0.079	0.07507	B	.	.	-1.262852	0.00471	0.010	0.47691831979692767	0.03920	0.01546	0.05073	N	AEFGBI	0.025664	0.01796	N	-1.40475498097985	0.02597	0.1148803	-1.41741239736317	0.03078	0.1428674	0.559684569556126	0.21403	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.37	-1.82	0.07433	-2.766000	0.00852	-9.926000	0.00760	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4141:0.1966:0.3893	6.829	0.23081	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	849.43	35	chr4	168275458	.	C	T	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.562;DP=401;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.307;SOR=0.813	GT:AD:DP:GQ:PL	0/1:44,38:82:99:861,0,985	9	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	504.2	65	chr4	168898668	.	T	C	504.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.282;DP=732;ExcessHet=2.8389;FS=90.232;InbreedingCoeff=-0.3343;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.44;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:23:0|1:168898668_T_C:23,0,2977:168898668	5	0	5	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	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:23:0|1:168898668_T_C:23,0,2977:168898668	3	0	7	0
chr4	174977284	174977284	-	AT	exonic	ADAM29	.	frameshift insertion	ADAM29:NM_001278127:exon2:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001130705:exon3:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001130703:exon4:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001130704:exon4:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_014269:exon5:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001278125:exon6:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001278126:exon6:c.1759_1760insAT:p.L588Ifs*4	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269646449	4.79e-06	4.788e-06	2.723e-06	6.877e-06	0.0005	1.99e-06	1.28e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.799e-06	3.312e-05	0	6.575e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4317.39	34	chr4	174977284	.	C	CAT	4317.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.563;DP=533;ExcessHet=0;FS=1.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=0.603;SOR=0.834	GT:AD:DP:GQ:PL	0/1:94,110:204:99:4329,0,3565	9	0	1	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	.	.	.	.	.	.	.	.	0.25	495.27	103	chr4	176711629	.	G	C	495.27	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.125;DP=738;ExcessHet=2.8389;FS=92.991;InbreedingCoeff=-0.355;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.696;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,14:90:56:0|1:176711629_G_C:56,0,2547:176711629	5	0	5	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	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,14:90:56:0|1:176711629_G_C:56,0,2547:176711629	2	0	7	1
chr4	183694013	183694013	T	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon22:c.T2483C:p.V828A,TRAPPC11:NM_199053:exon22:c.T2483C:p.V828A	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	426	1075	18	3	0	24	0.0110396	.	.	.	251423	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified	MedGen:C3661900|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0081	0.00459265	0.0083	0.0022	0.0041	0	0.0112	0.0117	0.0088	0.0050	0.0083246	1287	154602	rs75176151	0.0098	0.0098	0.0097	0.0099	0.0110	0.0097	0.0096	0.0108	0.0107	0.0019	0.0054	0.0075	0	0.0086	0.0102	0.0110	0.0096	0.0066	0.0077	0.0077	0.0076	0.0078	0.0107	0.0073	0.0072	0.0101	0.0098	0.0021	0.0340	0.0081	0.0060	0	0.0115	0.0136	0.0107	0.0095	0.0070	0.009	0.57480	D	0.111	0.58613	T	0.165	0.44271	B	0.055	0.44933	B	0.000196	0.48115	D	0.143151	0.999898	0.50595	D	1.39	0.34934	L	.	.	.	-1.24	0.39692	N	0.556	0.58117	-0.7910	0.55671	T	0.157	0.48858	T	9	0.008762926	0.00198	T	.	.	.	0.076	0.22200	.	.	0.443695250439	0.43992	0.47742318771740505	0.47662	0.305917097717	0.32891	0.308522045612	0.11683	T	0.043789	0.26613	T	-0.444555	0.01216	T	-0.400961	0.33271	T	0.0228264379669178	0.01003	T	0.884911	0.61335	D	0.077215865	0.17513	0.11991077	0.28941	0.095509425	0.22479	0.13256696	0.31808	-8.326	0.63552	D	0.31311039729637674	0.41105	0.160	0.35992	B	.;.;.	.;.;.	3.106314	0.41883	21.4	0.99694055035843987	0.80112	0.99276	0.93823	D	AEFBI	0.835047	0.75301	D	0.167404169511582	0.49640	3.162047	0.265128046738744	0.53514	3.519996	0.999999895748678	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.78	5.78	0.91418	8.017000	0.88732	3.511000	0.38840	0.665000	0.62972	0.986000	0.36153	0.564000	0.25536	0.717000	0.34675	0.0:0.0:0.0:1.0	16.100	0.80972	855	0.34697	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.006793	0.000000	0.000000	0.017241	0.003049	0.011364	0.1	3823.14	38	chr4	183694013	.	T	C	3823.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.392;DP=626;ExcessHet=0.2348;FS=1.817;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.019;SOR=0.805	GT:AD:DP:GQ:PL	0/1:74,85:159:99:1905,0,1795	8	0	2	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,2:16:42:0|1:189953101_C_T:42,0,582:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,2:17:39:0|1:189953101_C_T:39,0,604:189953101	2	0	8	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	458.71	117	chr4	189957425	.	A	G	458.71	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.074;DP=883;ExcessHet=1.5895;FS=0.781;InbreedingCoeff=-0.2537;MLEAC=4;MLEAF=0.2;MQ=46.42;MQRankSum=-1.461;QD=1.22;ReadPosRankSum=-0.234;SOR=0.874	GT:AD:DP:GQ:PL	0/1:72,12:84:30:30,0,2384	6	0	4	0
chr5	113365	113365	C	A	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon2:c.C160A:p.H54N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36392742	0.52950	T	.	.	.	.	.	.	.	.	.	0.18944679909242274	0.18862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866613	0.56692	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.58475	A	.	.	2.396103	0.30777	18.54	0.60825301823385425	0.06557	0.32983	0.24718	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.959794771238662	0.28448	0.295142	0.05270	0	0.085267	0.02369	0	0.343423	0.05949	0	0.062806	0.01542	0	0.0549955	0.12659	2.87	-1.27	0.08863	3.655000	0.54200	0.861000	0.22228	-0.356000	0.05535	0.999000	0.42656	0.972000	0.29809	0.004000	0.06068	0.0:0.2592:0.0:0.7408	6.387	0.20769	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.79	.	chr5	113365	.	C	A	32.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	5	0	1	4
chr5	10461332	10461332	C	A	exonic	ROPN1L	.	nonsynonymous SNV	ROPN1L:NM_031916:exon4:c.C566A:p.S189Y,ROPN1L:NM_001201466:exon5:c.C566A:p.S189Y	.	412	1106	2	2	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0105	0.0115815	0.0029	0.0289	0.0033	0.0001	0	0.0001	0.0033	0	0.0029042	449	154602	rs36124677	0.0010	0.0010	0.0011	0.0009	0.0328	0.0010	0.0010	0.0312	0.0306	0.0328	0.0026	0	0	0	0.0042	5.576e-05	0.0027	0.0002	0.0087	0.0087	0.0089	0.0085	0.0302	0.0083	0.0082	0.0288	0.0283	0.0302	0	0.0037	0	0	0	0.0034	4.41e-05	0.0047	0.0002	0.036	0.43393	D	0.04	0.50809	D	0.875	0.48103	P	0.548	0.49136	P	0.440412	0.04757	N	1.312980	1	0.08975	N	2.19	0.61577	M	1.74	0.26301	T	-2.1	0.47852	N	0.301	0.34012	-1.0376	0.18048	T	0.019	0.08033	T	10	0.0047522187	0.00100	T	.	.	.	0.101	0.28911	.	.	0.246215685461	0.24236	0.45177460848742457	0.45095	0.435277490918	0.43639	0.324746727943	0.14140	T	0.055791	0.30106	T	-0.676138	0.00051	T	-0.721005	0.04748	T	0.0224377004649319	0.00958	T	0.616838	0.23625	T	0.06922559	0.15148	0.08447657	0.19436	0.06922559	0.15148	0.08447657	0.19436	-5.315	0.40091	T	.	.	0.106	0.19518	B	.;.	.;.	1.770159	0.22508	15.65	0.97798855233726034	0.36052	0.07872	0.13863	N	AEFGBI	0.070229	0.13934	N	-0.63043872145547	0.18035	0.9330717	-0.810652543939859	0.14238	0.7428922	0.999924578249862	0.46280	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.76	-1.11	0.09336	0.137000	0.15816	-0.428000	0.09240	-0.218000	0.08083	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2562:0.4835:0.0:0.2603	4.762	0.12487	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.023098	0.011696	0.100000	0.000000	0.003049	0.003788	0.05	2363.43	35	chr5	10461332	.	C	A	2363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.383;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.518;SOR=0.685	GT:AD:DP:GQ:PL	0/1:117,108:225:99:2375,0,2849	9	0	1	0
chr5	23526806	23526806	T	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.T1718G:p.I573R,PRDM9:NM_001376900:exon11:c.T1718G:p.I573R,PRDM9:NM_020227:exon11:c.T1718G:p.I573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00211239582162	.	.	0.0005	0.0005	0.0006	0	0.0005	0.0005	0.0011	0.0004	0.000401	62	154602	rs199686868	0.0006	0.0013	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0006	0.0009	0.0015	0.0001	0.0005	0	0.0006	0.0007	0.0003	0.0018	0.0075	0.0020	0.0016	0.0019	0.0016	0.0015	0.0013	0.0012	0.0012	0.0824	0.0010	0.0004	0.0007	0.0015	0.0082	0.0016	0.0021	0.0019	0.011	0.55530	D	0.03	0.54159	D	0.007	0.14184	B	0.026	0.20792	B	0.082442	0.20808	N	0.249761	0.976666	0.25360	N	0.595	0.15482	N	3.18	0.07478	T	-0.32	0.12283	N	0.257	0.29081	-1.0062	0.28095	T	0.018	0.07329	T	10	0.0076250136	0.00173	T	0.002112	0.03908	T	0.039	0.10176	.	.	0.132336055621	0.12781	0.03216963226352868	0.03164	0.222549293773	0.24789	0.508551239967	0.40019	T	0.046814	0.27536	T	-0.552252	0.00283	T	-0.645309	0.09286	T	0.0113529475240062	0.00169	T	0.833717	0.50261	T	0.08483214	0.19653	0.10641779	0.25601	0.08483214	0.19653	0.10641779	0.25601	-2.891	0.09054	T	.	.	0.180	0.39237	B	.	.	1.265851	0.16643	12.67	0.96848628780123192	0.31331	0.05189	0.11010	N	AEFDGI	0.087736	0.17789	N	-0.897252205779945	0.10907	0.5236006	-0.894074810430658	0.12234	0.6280983	0.00794060661485853	0.11575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.31	1.41	0.21461	-0.883000	0.04278	-0.626000	0.08149	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.0:0.5362:0.0:0.4638	5.065	0.13914	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3402.43	37	chr5	23526806	.	T	G	3402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=548;ExcessHet=0;FS=3.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.41;MQRankSum=-1.298;QD=15.75;ReadPosRankSum=2.72;SOR=0.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,91:216:99:0|1:23526794_T_C:3414,0,4752:23526794	9	0	1	0
chr5	23526890	23526890	C	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C1802G:p.T601R,PRDM9:NM_001376900:exon11:c.C1802G:p.T601R,PRDM9:NM_020227:exon11:c.C1802G:p.T601R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00146284837441	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs766459090	1.793e-05	7.459e-05	1.921e-05	1.663e-05	0.0002	1.248e-05	1.06e-05	8.465e-05	5.991e-05	0.0001	0	0	0.0002	0	0.0002	1.176e-05	0	1.168e-05	0.0005	0.0012	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0005	0.0008	0	0.0006	0	0	0.0007	0	0.0003	0.0012	0.0006	0.012	0.54683	D	0.009	0.66756	D	0.947	0.53479	P	0.871	0.61869	P	0.038125	0.24320	N	0.205033	0.991926	0.23962	N	0.915	0.23335	L	3.17	0.07599	T	-4.28	0.76334	D	0.256	0.28965	-1.1192	0.02383	T	0.036	0.15509	T	10	0.2108686	0.37495	T	0.001463	0.02215	T	0.123	0.34020	0.644	0.78117	0.316198179892	0.31222	0.0402689973279511	0.03972	0.534207440331	0.50835	0.550323724747	0.45903	T	0.250425	0.62052	T	-0.380659	0.03086	T	-0.536258	0.18666	T	0.413202106952667	0.29437	T	0.0387961	0.00268	T	0.29918373	0.52832	0.2667037	0.52519	0.29918373	0.52832	0.2667037	0.52518	-4.26	0.27612	T	.	.	0.171	0.37596	B	.	.	2.251948	0.28762	17.90	0.99042018764070427	0.51051	0.09414	0.15175	N	AEFGI	0.095363	0.19268	N	-0.0575804674260153	0.39265	2.312661	-0.227890352848436	0.30541	1.720494	0.00173103695234233	0.08818	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.19	2.19	0.26890	-1.117000	0.03394	-1.683000	0.04922	0.589000	0.31548	0.000000	0.06391	0.001000	0.17328	0.492000	0.28837	0.0:0.8206:0.0:0.1794	4.824	0.12772	984	0.02857	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	.	.	.	.	.	.	.	.	0.05	411.43	37	chr5	23526890	.	C	G	411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=465;ExcessHet=0;FS=7.407;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.29;MQRankSum=0.456;QD=3.19;ReadPosRankSum=-4.73;SOR=1.491	GT:AD:DP:GQ:PL	0/1:104,25:129:99:423,0,2648	9	0	1	0
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K,CPLANE1:NM_023073:exon26:c.C4793A:p.T1598K	.	1	1495	26	0	0	26	0.00862069	.	.	.	501350	Joubert_syndrome_17|CPLANE1-related_disorder|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.004076	0.008772	0.000000	0.008621	0.006098	0.007576	0.05	2114.43	34	chr5	37183388	.	G	T	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=502;ExcessHet=0;FS=2.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.523;SOR=0.661	GT:AD:DP:GQ:PL	0/1:77,79:156:99:2126,0,2023	9	0	1	0
chr5	56127045	56127045	T	C	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon8:c.A674G:p.N225S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0276808016079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.58626	D	0.004	0.74150	D	.	.	.	.	.	.	0.000001	0.62929	N	0.053695	0.999965	0.53665	D	1.845	0.48678	L	2.22	0.59037	T	-3.77	0.71397	D	0.481	0.55886	0.025	0.82759	D	0.452	0.78591	T	10	0.45546627	0.58961	T	0.027681	0.50460	D	0.273	0.58883	0.364	0.37036	0.752464286618	0.75022	0.6210663418759008	0.62039	0.701132924051	0.61131	0.52927339077	0.42932	T	0.140578	0.47519	T	-0.137413	0.30303	T	-0.435161	0.29350	T	0.992648541927338	0.83178	D	0.850615	0.53646	D	0.30727524	0.53549	0.30348447	0.56379	0.30727524	0.53549	0.30348447	0.56378	-6.577	0.50877	T	.	.	0.255	0.48988	B	.;.	.;.	3.196037	0.43440	21.7	0.99771650595064842	0.85918	0.94956	0.62917	D	AEFDBHIJ	0.806042	0.73046	D	0.769239114575323	0.84150	8.208537	0.707846964090335	0.82975	7.901852	0.999999999999991	0.74766	0.50284	0.20314	0	0.573888	0.26702	0	0.573888	0.23631	0	0.654926	0.60358	0	.	.	5.62	5.62	0.85714	5.283000	0.65426	6.050000	0.53084	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	15.833	0.78546	296	0.88164	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	670.43	33	chr5	56127045	.	T	C	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.092;DP=382;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-0.108;SOR=0.556	GT:AD:DP:GQ:PL	0/1:47,33:80:99:682,0,1103	9	0	1	0
chr5	56815575	56815575	-	GGC	exonic	MAP3K1	.	nonframeshift insertion	MAP3K1:NM_005921:exon1:c.2_3insGGC:p.A5_G6insA	46XY sex reversal 6, Autosomal dominant	14	1507	1	0	0	1	0.000331675	.	.	.	985225	not_specified|46,XY_sex_reversal_6	MedGen:CN169374|MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0	.	0	0	.	0	0	0	0.0001153	3	26028	rs779149827	0.0007	0.0006	0.0007	0.0007	0.0055	0.0006	0.0006	0.0047	0.0044	0.0055	0.0009	0.0004	3.725e-05	0.0002	0.0003	0.0006	0.0007	0	0.0019	0.0019	0.0019	0.0019	0.0047	0.0017	0.0017	0.0042	0.0040	0.0047	0	0.0011	0.0012	0.0002	0	0	0.0010	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	425.4	20	chr5	56815575	.	T	TGGC	425.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.054;DP=153;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=-0.248;SOR=0.591	GT:AD:DP:GQ:PL	0/1:8,11:19:99:437,0,283	9	0	1	0
chr5	60754754	60754754	G	A	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon8:c.C716T:p.A239V,ELOVL7:NM_001297618:exon9:c.C455T:p.A152V,ELOVL7:NM_024930:exon9:c.C716T:p.A239V,ELOVL7:NM_001297617:exon11:c.C677T:p.A226V	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00279553	0.0022	0	0.0003	0.0001	0	1.499e-05	0.0011	0.0161	0.0019275	298	154602	rs114998585	0.0010	0.0010	0.0006	0.0015	0.0165	0.0010	0.0010	0.0158	0.0155	2.987e-05	8.944e-05	0	0	0	0.0007	1.979e-05	0.0012	0.0165	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	0	0	6.542e-05	0	0	0	0	2.941e-05	0	0.0147	0.713	0.04008	T	0.612	0.07642	T	0.001	0.09854	B	0.003	0.10090	B	0.597730	0.05628	N	1.221100	0.999578	0.20950	N	-0.11	0.04642	N	2.03	0.20959	T	2.03	0.00392	N	0.028	0.00618	-1.0005	0.29774	T	0.025	0.10598	T	10	0.003026247	0.00050	T	.	.	.	0.111	0.31313	.	.	0.0482279557977	0.04254	0.17150888370810333	0.17070	0.161705904285	0.18250	0.272379875183	0.06453	T	0.009644	0.08771	T	-0.643436	0.00079	T	-0.684054	0.06739	T	0.0103003973151032	0.00140	T	0.712729	0.32446	T	0.09406212	0.22106	0.052071497	0.08507	0.09406212	0.22106	0.052071497	0.08507	-1.894	0.02805	T	.	.	0.173	0.39322	B	.;.;.	.;.;.	1.276549	0.16756	12.75	0.28716384890801233	0.01488	0.33976	0.24958	N	AEFI	0.055051	0.10063	N	-1.02884403872823	0.08008	0.3740372	-0.921659100159656	0.11584	0.5910053	1.85047223870922E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.89	-0.637	0.10926	4.871000	0.62737	4.333000	0.43033	-0.102000	0.15922	0.999000	0.42656	0.997000	0.33255	0.608000	0.31589	0.6093:0.0:0.0631:0.3276	7.478	0.26554	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.007576	0.05	1067.43	36	chr5	60754754	.	G	A	1067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.289;DP=412;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.7;SOR=0.569	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1079,0,976	9	0	1	0
chr5	71560035	71560035	A	G	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon37:c.A7294G:p.T2432A	.	12	1494	16	0	0	16	0.00532623	.	.	.	3509742	BDP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0046877141636	0.0003	0.000998403	0.0008	0	0.0002	0.0002	0.0005	0.0005	0.0034	0.0030	0.0006727	104	154602	rs193246924	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0027	0.0026	2.987e-05	0.0006	0.0013	7.559e-05	0.0007	0.0035	0.0002	0.0006	0.0030	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	7.22e-05	0	0.0013	0.0009	0	0.0004	0	0.0003	0.0014	0.0025	0.022	0.48642	D	0.235	0.24767	T	0.612	0.39723	P	0.197	0.36707	B	0.089060	0.20448	N	0.414227	1	0.08975	N	1.59	0.40313	L	3.65	0.04267	T	-1.66	0.39692	N	0.113	0.10056	-1.0026	0.29168	T	0.015	0.05994	T	10	0.0037195086	0.00069	T	0.004688	0.11660	T	0.042	0.11227	.	.	0.132336055621	0.12781	0.09146985494391016	0.09079	0.162580693133	0.18349	0.243296355009	0.03095	T	0.015198	0.12791	T	-0.621145	0.00108	T	-0.669623	0.07632	T	0.021548904028548	0.00859	T	0.592541	0.21854	T	0.05239237	0.09765	0.05517199	0.09629	0.05239237	0.09764	0.05517199	0.09628	-3.561	0.17296	T	.	.	0.107	0.19919	B	.	.	1.922680	0.24416	16.39	0.9858064117121873	0.43232	0.04950	0.10712	N	AEFGBI	0.034544	0.04297	N	-0.264636589968389	0.30524	1.702762	-0.30138243378528	0.28054	1.561225	0.0183647452203762	0.13050	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	2.74	0.31352	0.900000	0.28062	1.051000	0.23638	0.691000	0.84096	0.004000	0.16614	0.276000	0.24078	0.978000	0.57271	0.6366:0.1854:0.0:0.178	5.344	0.15303	423	0.81269	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1632.43	33	chr5	71560035	.	A	G	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.547;DP=447;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.37;SOR=0.6	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1644,0,1661	9	0	1	0
chr5	71652672	71652672	T	G	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon15:c.T1378G:p.S460A,MCCC2:NM_022132:exon16:c.T1492G:p.S498A	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.143052889841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.099	0.38891	T	0.005	0.12996	B	0.052	0.25551	B	0.000000	0.84330	D	0.053861	0.999976	0.53665	D	1.44	0.36004	L	-3.17	0.95458	D	-1.79	0.42191	N	0.38	0.42149	0.428	0.89509	D	0.775	0.92346	D	10	0.4120869	0.56294	T	0.143053	0.82540	D	0.438	0.74235	0.46	0.52753	0.880985413979	0.87981	0.7629712472092655	0.76245	0.113105756222	0.12766	0.417387843132	0.27478	T	0.767617	0.93755	D	0.138735	0.68205	D	-0.0384935	0.67803	D	0.907515645027161	0.56182	D	0.818018	0.47665	T	0.25742579	0.48787	0.20247692	0.44278	0.25742579	0.48787	0.20247692	0.44277	-8.248	0.62747	D	.	.	0.108	0.26138	B	.;.	.;.	3.666498	0.52110	23.2	0.99261311148527998	0.57222	0.93273	0.57778	D	AEFGBCI	0.745994	0.68850	D	0.0100735201330705	0.42313	2.54708	0.191375298577825	0.49371	3.141292	0.977326446830824	0.29810	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.44	5.44	0.79348	5.514000	0.66760	3.397000	0.38105	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.479	0.67144	452	0.79239	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, 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	.	.	.	.	.	.	.	.	0.05	433.43	33	chr5	71652672	.	T	G	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=362;ExcessHet=0;FS=2.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.685;SOR=0.982	GT:AD:DP:GQ:PL	0/1:33,19:52:99:445,0,743	9	0	1	0
chr5	90622609	90622609	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.G466A:p.A156T	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1520	2	0	0	2	0.000657462	.	.	.	229319	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0181904717333	0.0002	0.000399361	0.0005	0.0003	0.0008	0	0	0.0002	0	0.0017	0.0002264	35	154602	rs201180985	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0	0	0	0	0	0.0008	0.0001	0.0002	0.0016	0.0001	0.0001	6.428e-05	0.0002	0.0025	8.17e-05	6.726e-05	0.0014	0.0011	0	0	0	0	0	0	0	0.0001	0	0.0025	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.530732	0.11641	N	0.816543	0.999111	0.21609	N	.	.	.	1.04	0.40218	T	1.38	0.01136	N	0.055	0.02658	-0.9342	0.43515	T	0.024	0.10194	T	10	0.011057407	0.00243	T	0.01819	0.40170	T	0.037	0.09474	.	.	0.0716867268079	0.06686	0.17335955925859284	0.17255	0.0467174585816	0.05080	0.291355937719	0.09119	T	0.044397	0.26802	T	-0.636638	0.00087	T	-0.732814	0.04201	T	0.00605642890747815	0.00067	T	0.343566	0.07491	T	0.029734943	0.02516	0.050000682	0.07757	0.032493286	0.03284	0.045777597	0.06235	-2.271	0.04399	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	0.395212	0.07666	4.337	0.15143179301752169	0.00360	0.11202	0.16476	N	AEFBI	0.036888	0.04985	N	-1.33280703634218	0.03306	0.1474735	-1.18544277025507	0.06152	0.2952454	0.110734227816061	0.16640	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.74	-1.11	0.09336	0.455000	0.21555	0.426000	0.18273	-0.549000	0.04906	0.933000	0.32380	0.001000	0.17328	0.189000	0.21571	0.4954:0.0:0.2648:0.2399	3.855	0.08479	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	.	.	.	.	.	.	.	.	0.05	787.43	40	chr5	90622609	.	G	A	787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.619;DP=390;ExcessHet=0;FS=8.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.26;SOR=0.403	GT:AD:DP:GQ:PL	0/1:30,38:68:99:799,0,717	9	0	1	0
chr5	94396148	94396148	G	T	exonic	KIAA0825	.	nonsynonymous SNV	KIAA0825:NM_001145678:exon17:c.C3249A:p.N1083K,KIAA0825:NM_001385713:exon17:c.C3264A:p.N1088K,KIAA0825:NM_001385712:exon18:c.C3264A:p.N1088K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00750776835958	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388286698	5.806e-06	6.156e-06	5.718e-06	5.898e-06	9.375e-05	2.5e-06	1.81e-06	4.386e-05	3.096e-05	0	0	0	0	0	0	0	1.752e-05	9.375e-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	0.307	0.14159	T	0.449	0.12993	T	0.005	0.12996	B	0.011	0.15521	B	.	.	.	.	0.69012	0.30199	N	1.04	0.26193	L	1.07	0.39586	T	-1.58	0.38151	N	0.129	0.12341	-1.0882	0.05839	T	0.078	0.31133	T	9	0.08322662	0.13822	T	0.007508	0.19926	T	0.026	0.05648	0.293	0.25560	0.268211541103	0.26431	.	.	.	.	0.345219731331	0.17215	T	0.013266	0.11507	T	-0.303469	0.08336	T	-0.673688	0.07374	T	0.051816272457496	0.05815	T	0.647735	0.25884	T	0.08655518	0.20123	0.11449054	0.27637	0.08655518	0.20122	0.11449054	0.27636	-3.364	0.14576	T	.	.	0.134	0.29060	B	.	.	1.945990	0.24719	16.50	0.98996959385429983	0.50065	0.68805	0.33942	D	AEFDI	0.119986	0.23395	N	-0.382280378458598	0.26100	1.421893	-0.248061197772163	0.29838	1.674997	0.0365021212711893	0.14248	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.620846	0.47308	0	.	.	5.58	2.7	0.31007	0.408000	0.20787	.	.	0.671000	0.69459	0.999000	0.42656	1.000000	0.68203	0.925000	0.46118	0.0682:0.0:0.4165:0.5153	8.756	0.33807	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	.	.	.	.	.	.	.	.	0.05	1734.43	34	chr5	94396148	.	G	T	1734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.915;DP=453;ExcessHet=0;FS=2.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.402;SOR=0.488	GT:AD:DP:GQ:PL	0/1:61,70:131:99:1746,0,1508	9	0	1	0
chr5	96412463	96412463	G	A	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.C737T:p.T246M,PCSK1:NM_001177875:exon7:c.C596T:p.T199M	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.329593620561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1044737470	1.163e-05	1.163e-05	1.634e-05	6.876e-06	2.236e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	2.236e-05	0	0	0	0	1.259e-05	1.656e-05	1.159e-05	6.576e-06	6.569e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	-2.6	0.89888	D	-5.04	0.82638	D	0.873	0.87049	0.921	0.95969	D	0.861	0.95359	D	10	0.9207115	0.91425	D	0.329594	0.91712	D	0.888	0.96762	0.719	0.85408	0.987946132135	0.98781	0.886734109114461	0.88642	0.947771204671	0.72482	0.869953989983	0.92561	D	0.79896	0.94852	D	0.460327	0.92942	D	0.423452	0.92853	D	0.997527301311493	0.91766	D	0.963604	0.86445	D	0.7839992	0.82901	0.7271818	0.83883	0.7839992	0.82902	0.7271818	0.83884	-9.487	0.71276	D	.	.	0.907	0.83519	P	.;.	.;.	5.707521	0.93153	33	0.99909862549635331	0.97949	0.99745	0.99149	D	AEFDBI	0.952236	0.96752	D	0.992096752653334	0.95496	13.67588	0.933754473965918	0.96882	15.27609	0.999999999999848	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.47	5.47	0.80345	9.602000	0.97623	11.909000	0.99543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.930	0.92535	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	.	.	.	.	.	.	.	.	0.05	1374.43	37	chr5	96412463	.	G	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.365;DP=516;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.687;SOR=0.629	GT:AD:DP:GQ:PL	0/1:80,62:142:99:1386,0,1882	9	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	910.05	51	chr5	102270770	.	G	A	910.05	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.065;DP=424;ExcessHet=1.5895;FS=179.287;InbreedingCoeff=-0.291;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=1.44;SOR=6.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,14:43:42:.:.:42,0,374:.	5	0	4	1
chr5	111113092	111113092	C	T	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon16:c.C1735T:p.R579C	Glaucoma 1, open angle, G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0541301869122	.	.	8.268e-06	0	8.709e-05	0	0	0	0	0	6.5e-06	1	154602	rs747445944	4.51e-06	1.437e-05	4.473e-06	4.547e-06	2.838e-05	1.62e-06	1.07e-06	.	.	0	2.591e-05	0	2.838e-05	0	0	9.643e-07	5.655e-05	0	0	6.886e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.225	0.63025	M	0.2	0.60111	T	-7.97	0.96368	D	0.922	0.96871	-0.1486	0.78950	T	0.447	0.78263	T	10	0.8829582	0.87612	D	0.05413	0.65740	D	0.434	0.73951	0.644	0.78117	0.740046089975	0.73771	0.6900805834115276	0.68948	0.252456946479	0.27810	0.747338056564	0.74054	T	0.471653	0.80426	T	0.323218	0.84700	D	0.226504	0.84500	D	0.962501227855682	0.66388	D	0.991501	0.97315	D	0.8235889	0.85462	0.8661678	0.92602	0.8235889	0.85464	0.8661678	0.92602	-7.647	0.58638	D	0.8917087015879912	0.94614	0.741	0.74994	P	.;.;.	.;.;.	5.786152	0.93548	33	0.99923630649248119	0.98917	0.98630	0.84902	D	AEFBI	0.764528	0.70129	D	0.888217737998189	0.91171	10.75004	0.871953701429315	0.94230	12.60191	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.06	6.06	0.98340	5.840000	0.69113	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	20.640	0.99540	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	852.43	34	chr5	111113092	.	C	T	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.173;DP=394;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.403;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,37:79:99:864,0,1046	9	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	88.02	45	chr5	119499449	.	T	C	88.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.661;DP=565;ExcessHet=0.2348;FS=190.794;InbreedingCoeff=-0.1028;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.78;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:96:0|1:119499447_G_C:96,0,1584:119499447	8	0	2	0
chr5	128084245	128084263	GGCGGCGGCGGCGGCGGCA	0	exonic	SLC12A2	.	.	.	.	266	1207	29	2	18	51	0.0134859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	273.54	24	chr5	128084245	.	GGCGGCGGCGGCGGCGGCA	*	273.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=303;ExcessHet=0.2348;FS=2.276;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=-0.09;SOR=1.105	GT:AD:DP:GQ:PL	0/1:17,14:31:99:490,0,630	9	0	1	0
chr5	132588729	132588729	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon8:c.G1094A:p.R365Q	Nijmegen breakage syndrome-like disorder	0	1518	4	0	0	4	0.00131579	.	.	YES	133447	Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Nijmegen_breakage_syndrome-like_disorder|RAD50-related_disorder|Ovarian_cancer|not_specified|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|.|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00697307627055	0.0003	0.000399361	0.0004	0	0.0002	0.0005	0	0.0006	0	0.0002	0.0003946	61	154602	rs146370443	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	5.975e-05	0.0002	3.827e-05	0.0005	9.361e-05	0.0009	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	4.828e-05	0	0.0003	0	0.0008	0.0004	0	0.0004	0.0005	0.0006	0.352	0.12226	T	0.447	0.23501	T	0.013	0.16609	B	0.003	0.08700	B	0.000394	0.44960	N	0.214869	0.954747	0.26358	N	2.045	0.56016	M	3.19	0.07353	T	-0.53	0.16393	N	0.215	0.24010	-0.9640	0.38409	T	0.018	0.07565	T	10	0.018426448	0.00401	T	0.006973	0.18458	T	0.077	0.22490	.	.	0.405700215632	0.40186	0.12579371767060307	0.12505	.	.	0.26303422451	0.05257	T	0.078765	0.35970	T	-0.532285	0.00372	T	-0.640456	0.09636	T	0.0303696812740507	0.02047	T	0.766923	0.40827	T	0.02597392	0.01598	0.030527333	0.01519	0.02597392	0.01597	0.030527333	0.01519	-5.043	0.37304	T	0.19981738974140087	0.26501	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	2.525130	0.32633	19.10	0.9942523093063208	0.63984	0.76733	0.37657	D	AEFBI	0.134178	0.25410	N	-0.429157971092481	0.24452	1.320385	-0.257658284455226	0.29509	1.653766	0.393482188844466	0.20067	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.97	4.22	0.49153	1.064000	0.30189	2.617000	0.33611	-0.106000	0.15538	0.963000	0.33788	0.636000	0.25890	0.933000	0.47100	0.2873:0.0:0.5675:0.1453	4.551	0.11512	827	0.39843	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	3153.43	34	chr5	132588729	.	G	A	3153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.417;DP=607;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.335;SOR=0.629	GT:AD:DP:GQ:PL	0/1:137,134:271:99:3165,0,3135	9	0	1	0
chr5	132813630	132813630	-	GCCGCC	exonic	SOWAHA	.	nonframeshift insertion	SOWAHA:NM_175873:exon1:c.9_10insGCCGCC:p.A12_G13insAA	.	447	538	372	158	7	695	0.390023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0	0	.	.	0	0	0.0079	0.0001537	4	26028	rs566990199	0.0003	0.0071	0.0003	0.0003	0.0009	0.0003	0.0003	0.0007	0.0006	0	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0015	0.0009	0.0003	0.0003	0.0004	0.0002	0.0014	0.0002	0.0002	0.0006	0.0005	0.0003	0	0.0007	0	0.0014	0.0003	0	2.977e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2105.29	11	chr5	132813630	.	G	GGCCGCC	2105.29	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.731;DP=151;ExcessHet=0.0657;FS=8.292;InbreedingCoeff=0.3939;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=29.65;ReadPosRankSum=-1.524;SOR=2.119	GT:AD:DP:GQ:PL	0/1:0,2:8:66:373,249,238	9	0	1	0
chr5	134411827	134411827	C	T	exonic	CDKN2AIPNL	.	nonsynonymous SNV	CDKN2AIPNL:NM_080656:exon1:c.G28A:p.V10M	.	429	1092	1	0	0	1	0.000457666	.	.	.	2335770	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0211273443535	9e-05	.	0.0002	0	0	0	0	0.0003	0	0	8.41e-05	13	154602	rs370981313	4.76e-05	5.13e-05	4.86e-05	4.658e-05	0.0007	3.814e-05	3.491e-05	0.0003	0.0002	0	2.475e-05	0.0006	0	0	0.0007	3.647e-05	0.0001	2.417e-05	8.54e-05	8.536e-05	0.0001	4.034e-05	8.821e-05	4.956e-05	3.962e-05	3.762e-05	2.575e-05	0	0	6.542e-05	0.0017	0	0	0	8.821e-05	0	0	0.002	0.78490	D	0.005	0.72224	D	0.01	0.15535	B	0.011	0.15521	B	0.000066	0.52346	D	0.076254	0.971932	0.25627	N	2.375	0.68372	M	.	.	.	-1.26	0.31778	N	0.249	0.32037	-0.9781	0.35435	T	0.084	0.32843	T	9	0.039554954	0.02454	T	0.021127	0.43850	T	0.209	0.49871	.	.	0.286465849087	0.28247	0.7738266644849676	0.77332	0.403789402915	0.41303	0.813044607639	0.83959	D	0.035737	0.23835	T	-0.243063	0.14961	T	-0.361218	0.37910	T	0.166675891340026	0.18351	T	0.868913	0.58964	D	0.18961164	0.40511	0.2244952	0.47364	0.18961164	0.40510	0.2244952	0.47363	-5.002	0.45716	T	.	.	0.270	0.51086	B	.;.	.;.	3.228642	0.44022	21.9	0.96218434615621484	0.29079	0.72503	0.35485	D	AEFGBHCIJ	0.589791	0.58653	D	-0.445067540263239	0.23907	1.287194	-0.377692229267892	0.25663	1.412715	0.999999999999985	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.7	2.84	0.32241	3.895000	0.55971	.	.	-0.236000	0.07595	0.319000	0.25494	1.000000	0.68203	0.013000	0.09966	0.3232:0.4337:0.1567:0.0864	3.122	0.06009	737	0.53483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	190.43	34	chr5	134411827	.	C	T	190.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=277;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.465;SOR=0.986	GT:AD:DP:GQ:PL	0/1:12,8:20:99:202,0,346	9	0	1	0
chr5	134686808	134686808	C	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon10:c.C1510A:p.P504T,SEC24A:NM_021982:exon10:c.C1510A:p.P504T	.	.	.	.	.	.	.	.	.	.	.	2198270	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.477	0.0902209086107	0.0002	.	5.808e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs201822745	3.243e-05	3.283e-05	3.157e-05	3.329e-05	0.0005	2.499e-05	2.239e-05	0.0001	7.591e-05	0	2.349e-05	0.0005	0	0	0.0005	1.988e-05	8.341e-05	2.397e-05	4.601e-05	4.597e-05	7.709e-05	1.346e-05	6.557e-05	2.11e-05	1.527e-05	.	.	0	0	6.557e-05	0.0017	0	0	0	0	0	0	0.14	0.58626	T	0.012	0.63918	D	0.914	0.50529	P	0.656	0.52685	P	0.000000	0.84330	D	0.048243	0.999992	0.58761	D	2.14	0.59869	M	-1.15	0.77964	T	-1.12	0.31778	N	0.665	0.67391	0.215	0.86172	D	0.602	0.85843	D	10	0.42379203	0.57038	T	0.090221	0.75476	D	0.477	0.76881	.	.	0.908468115496	0.90754	0.7153714600213236	0.71480	0.445512622103	0.44443	0.715964019299	0.69459	T	0.150147	0.48948	T	0.0123332	0.53343	T	-0.0868991	0.64394	T	0.154740833738909	0.17474	T	0.959504	0.84742	D	0.45788324	0.64539	0.26650387	0.52497	0.45788324	0.64540	0.26650387	0.52496	-9.234	0.69191	D	.	.	0.790	0.76805	P	.;.	.;.	4.191318	0.63170	24.5	0.98652126459717882	0.44206	0.96122	0.67633	D	AEFBI	0.748241	0.69005	D	0.677406753690085	0.78153	6.814305	0.698203917522521	0.82243	7.718793	0.99999386251934	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.836000	0.62479	.	.	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.062	0.97678	568	0.70638	Sec23/Sec24, trunk 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	.	.	.	.	.	.	.	.	0.05	1009.43	33	chr5	134686808	.	C	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.798;SOR=0.7	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1021,0,1052	9	0	1	0
chr5	139042705	139042705	G	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon5:c.C368T:p.T123I,SIL1:NM_001037633:exon6:c.C368T:p.T123I	Marinesco-Sjogren syndrome, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	101980	Marinesco-Sjögren_syndrome|SIL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.251	0.022469175072	0.0063	0.00199681	0.0058	0.0021	0.0010	0	0.0017	0.0086	0.0033	0.0047	0.0058149	899	154602	rs115800498	0.0073	0.0073	0.0074	0.0072	0.0086	0.0072	0.0071	0.0084	0.0084	0.0011	0.0018	0.0013	2.519e-05	0.0019	0.0052	0.0086	0.0065	0.0053	0.0047	0.0047	0.0049	0.0046	0.0084	0.0044	0.0043	0.0078	0.0076	0.0013	0	0.0029	0.0003	0.0002	0.0006	0.0034	0.0084	0.0066	0.0050	0.032	0.72154	D	0.016	0.60972	D	0.216	0.30161	B	0.081	0.31843	B	0.099780	0.19918	N	0.530450	0.999894	0.19781	N	1.59	0.40313	L	-0.61	0.71779	T	-2.12	0.51319	N	0.282	0.32370	-0.8504	0.51940	T	0.209	0.56893	T	10	0.006200969	0.00174	T	0.022469	0.45362	T	0.251	0.56024	.	.	0.466059976078	0.46230	0.2802614282165687	0.27939	0.372858591364	0.38771	0.486942917109	0.37016	T	0.243797	0.61279	T	-0.30756	0.07964	T	-0.20517	0.54157	T	0.0149357539256162	0.00318	T	0.810819	0.46223	T	0.07017364	0.15436	0.11561561	0.27910	0.064821616	0.13792	0.11561561	0.27909	-5.027	0.37132	T	0.1939016132239977	0.25530	0.167	0.49255	B	.;.;.;.;.	.;.;.;.;.	2.571939	0.33327	19.31	0.99189030372839704	0.54906	0.78831	0.38954	D	AEFDBI	0.237679	0.35993	N	-0.166597482616396	0.34531	1.972092	-0.0870876997230101	0.35923	2.084157	0.00847338030882632	0.11683	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.97	3.16	0.35406	1.608000	0.36458	5.819000	0.50068	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.986000	0.61781	0.0:0.3675:0.6325:0.0	11.833	0.51579	602	0.67834	.;.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.015152	0.05	1716.43	35	chr5	139042705	.	G	A	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=472;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.527;SOR=0.631	GT:AD:DP:GQ:PL	0/1:70,72:142:99:1728,0,1621	9	0	1	0
chr5	139472851	139472851	C	T	exonic	SMIM33	.	nonsynonymous SNV	SMIM33:NM_001365197:exon2:c.C329T:p.P110L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08840978	0.15221	T	.	.	.	.	.	.	.	.	.	0.02551528938741013	0.02502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444256	0.12390	T	0.038910557	0.05273	0.07777455	0.17359	0.038910557	0.05272	0.07777455	0.17358	-4.222	0.27069	T	.	.	0.081	0.08176	B	.	.	0.234513	0.06155	2.601	0.66634596817508418	0.08117	0.04663	0.10339	N	AEFBCI	0.049118	0.08454	N	.	.	.	.	.	.	0.999770990980299	0.42865	0.428477	0.06694	0	0.547309	0.14657	0	0.468601	0.07175	0	0.635259	0.50027	0	.	.	4.96	2.12	0.26372	-0.045000	0.11957	0.074000	0.14299	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.6938:0.0:0.3062	6.966	0.23802	248	0.90287	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	37.23	1	chr5	139472851	.	C	T	37.23	.	AC=2;AF=0.143;AN=14;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=18.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr5	141189272	141189272	C	T	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C1954T:p.R652C	.	78	1435	9	0	0	9	0.00312609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0015	0.0006	0.0018	0.0005	0.0002	0.0022	0.0024	0.0005	0.000194	30	154602	rs534535624	0.0037	0.0048	0.0037	0.0037	0.0081	0.0036	0.0036	0.0059	0.0052	0.0010	0.0035	0.0016	0.0001	0.0012	0.0081	0.0042	0.0036	0.0014	0.0043	0.0044	0.0048	0.0039	0.0069	0.0041	0.0040	0.0064	0.0062	0.0019	0	0.0042	0.0035	0.0002	0.0008	0.0034	0.0069	0.0085	0.0019	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0086324215	0.00196	T	.	.	.	.	.	.	.	0.433600339574	0.42977	0.3049119517238209	0.30404	.	.	0.443066358566	0.30996	T	.	.	.	-0.464479	0.00921	T	-0.445516	0.28193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.324416	0.29769	18.23	0.97148159929137468	0.32573	0.20372	0.21017	N	AEFI	.	.	.	.	.	.	.	.	.	0.0754974780936962	0.15698	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.614049	0.41051	3.32	1.17	0.19998	1.621000	0.36597	.	.	0.302000	0.18967	0.007000	0.17678	0.000000	0.08366	0.295000	0.24381	0.2915:0.7085:0.0:0.0	11.42	0.49219	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003352	0.000000	0.004087	0.004237	0.000000	0.008772	0.006757	0.000000	0.15	3325.45	123	chr5	141189272	.	C	T	3325.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.05;DP=1074;ExcessHet=0.7463;FS=2.082;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.22;MQRankSum=-5.741;QD=7.66;ReadPosRankSum=-0.067;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,30:162:99:0|1:141189271_T_G:827,0,5393:141189271	7	0	3	0
chr5	141247332	141247332	T	C	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.T1754C:p.L585P	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	.	0.0015	0.00239617	0.0043	0.0005	0.0094	0	0.0002	0.0053	0.0162	0.0020	0.0004916	76	154602	rs200613205	0.0045	0.0045	0.0046	0.0045	0.0194	0.0045	0.0044	0.0159	0.0147	0.0018	0.0087	0.0053	2.523e-05	0.0003	0.0194	0.0049	0.0054	0.0016	0.0035	0.0035	0.0035	0.0034	0.0058	0.0032	0.0031	0.0048	0.0045	0.0010	0	0.0058	0.0058	0	0.0004	0.0068	0.0051	0.0095	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999949	0.51968	D	2.37	0.68279	M	0.7	0.51474	T	-6.7	0.92476	D	0.803	0.79889	-0.4784	0.69426	T	0.276	0.64783	T	9	0.024506003	0.00676	T	.	.	.	0.507	0.78786	.	.	0.771716378111	0.76962	0.7332013691823474	0.73265	1.40351083469	0.85255	0.6692892313	0.62736	T	0.032607	0.22561	T	-0.245524	0.14652	T	-0.119623	0.61833	T	0.0386058951901212	0.03439	T	0.967203	0.88094	D	0.94529605	0.95787	0.90988696	0.95680	0.94529605	0.95787	0.90988696	0.95681	-10.281	0.75577	D	.	.	0.627	0.70007	P	.	.	3.702648	0.52822	23.3	0.99824757429874189	0.90677	0.93573	0.58587	D	AEFBI	0.801118	0.72691	D	0.608887404419376	0.73734	6.015101	0.53627324060847	0.70448	5.506766	0.481477650091747	0.20789	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.02	4.02	0.45968	4.882000	0.62813	.	.	0.493000	0.22426	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.0:1.0	12.957	0.57830	698	0.58074	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	0.018272	0.000000	0.024590	0.042735	0.000000	0.017241	0.006667	0.003937	0.15	2689.45	70	chr5	141247332	.	T	C	2689.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.311;DP=534;ExcessHet=0.7463;FS=2.399;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.91;MQRankSum=-1.258;QD=12.99;ReadPosRankSum=-0.072;SOR=0.525	GT:AD:DP:GQ:PL	0/1:35,29:64:99:687,0,1047	7	0	3	0
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	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,58:191:99:.:.:716,0,2917:.	1	0	8	1
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	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:187,88:275:99:340,0,3350	3	0	7	0
chr5	141934551	141934551	G	T	exonic	DELE1	.	nonsynonymous SNV	DELE1:NM_001142603:exon10:c.G1114T:p.A372S,DELE1:NM_014773:exon10:c.G1114T:p.A372S	.	.	.	.	.	.	.	.	.	.	.	3956573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0570429832277	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752024756	7.524e-06	7.524e-06	2.722e-06	1.238e-05	9.275e-05	4.04e-06	2.95e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	2.698e-06	0	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.032	0.53788	D	0.999	0.77913	D	0.998	0.88582	D	0.000050	0.53742	D	0.121276	0.858663	0.35348	D	.	.	.	-1.06	0.76819	T	-1.96	0.45404	N	0.605	0.62611	-0.5331	0.67424	T	0.263	0.63405	T	10	0.7683169	0.76880	D	0.057043	0.66824	D	0.512	0.79094	0.77	0.89688	0.81245491614	0.81069	0.39982493710148864	0.39897	0.655891504161	0.58620	0.507063031197	0.39812	T	0.039131	0.25213	T	0.0111448	0.53182	T	-0.0402398	0.67685	D	0.649352359817395	0.38434	D	0.767723	0.43637	T	0.19763306	0.41636	0.16106665	0.37483	0.19763306	0.41636	0.16106665	0.37482	-4.307	0.28274	T	.	.	0.277	0.51014	B	.;.;.	.;.;.	4.930671	0.81284	27.5	0.99594588170093257	0.73807	0.91585	0.53837	D	AEFDBHCIJ	0.649186	0.62374	D	0.389425482146061	0.60847	4.278443	0.45548131028996	0.65069	4.777423	0.99999998888356	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	5.54	0.82907	5.711000	0.68052	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	14.993	0.71057	888	0.27761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	942.43	33	chr5	141934551	.	G	T	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.291;DP=379;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.458;SOR=0.528	GT:AD:DP:GQ:PL	0/1:33,39:72:99:954,0,816	9	0	1	0
chr5	150896584	150896584	C	T	exonic	ZNF300	.	nonsynonymous SNV	ZNF300:NM_001172832:exon5:c.G547A:p.G183R,ZNF300:NM_052860:exon6:c.G655A:p.G219R,ZNF300:NM_001172831:exon7:c.G703A:p.G235R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00205990877771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177573064	4.106e-06	4.788e-06	5.446e-06	2.751e-06	3.479e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.994e-07	3.312e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.55530	D	0.077	0.45530	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	2.41	0.69639	M	3.16	0.07711	T	-2.38	0.61580	N	0.096	0.08088	-0.9853	0.33760	T	0.020	0.08313	T	9	0.107470185	0.19965	T	0.00206	0.03775	T	0.024	0.04979	0.416	0.45544	0.171388866994	0.16791	0.04341072113041024	0.04286	0.174350911685	0.19631	0.245990812778	0.03358	T	0.135794	0.46781	T	-0.354233	0.04467	T	-0.649754	0.08971	T	0.0729279337944176	0.09057	T	0.0734926	0.00603	T	0.11717097	0.27626	0.17136726	0.39314	0.11717097	0.27626	0.17136726	0.39313	-3.155	0.11939	T	.	.	0.110	0.21087	B	.;.;.;.	.;.;.;.	1.343824	0.17504	13.20	0.9320810394829494	0.22880	0.00012	0.00170	N	AEFBCI	0.038951	0.05587	N	-0.842460753920006	0.12236	0.5951972	-0.896259937212975	0.12181	0.6251603	4.35269815743156E-4	0.06970	0.651	0.46895	0	0.588015	0.36545	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	3.04	1.13	0.19758	0.848000	0.27362	-0.113000	0.11807	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.285000	0.24139	0.0:0.7836:0.0:0.2164	7.379	0.26019	648	0.63242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.05	1790.43	35	chr5	150896584	.	C	T	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.826;DP=472;ExcessHet=0;FS=1.23;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.097;SOR=0.585	GT:AD:DP:GQ:PL	0/1:85,76:161:99:1802,0,2237	9	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,151:407:99:.:.:17380,10496,9998:.	1	4	5	0
chr5	157488273	157488273	C	T	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon21:c.G2542A:p.V848I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0098030895211	0.0007	0.00139776	0.0006	0.0005	0.0003	0	0.0008	0.0008	0.0011	0	0.0005951	92	154602	rs146122567	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0002	0.0005	0.0014	0	0.0004	0.0003	0.0004	0.0005	0.0002	0.0010	0.0010	0.0010	0.0010	0.0034	0.0008	0.0008	0.0027	0.0024	0.0002	0.0461	0.0034	0.0006	0	0.0002	0	0.0006	0.0014	0	0.393	0.10730	T	0.498	0.11263	T	0.021	0.21573	B	0.012	0.16012	B	0.518607	0.11767	N	0.766780	1	0.08975	N	0.345	0.11182	N	4.82	0.01528	T	-0.21	0.11547	N	0.067	0.03956	-0.9129	0.46492	T	0.006	0.01944	T	10	0.004315287	0.00087	T	0.009803	0.25563	T	0.012	0.01476	.	.	0.28798054836	0.28402	0.03540611455412985	0.03487	0.0601548666932	0.06689	0.309809654951	0.11878	T	0.041383	0.25840	T	-0.603889	0.00138	T	-0.739922	0.03894	T	0.00232333899201285	0.00024	T	0.339066	0.07293	T	0.01639531	0.00195	0.022634823	0.00284	0.01639531	0.00195	0.022634823	0.00284	-3.879	0.22903	T	.	.	0.067	0.02428	B	.;.	.;.	1.033096	0.14134	10.71	0.92861831752836599	0.22404	0.02857	0.07619	N	AEFBI	0.029026	0.02665	N	-1.00025553789944	0.08598	0.4037776	-0.970921287223704	0.10441	0.5259214	0.995323739039435	0.34065	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.69	2.81	0.31971	0.050000	0.14004	2.606000	0.33549	-0.183000	0.09960	0.000000	0.06391	0.998000	0.33993	0.196000	0.21779	0.0:0.4104:0.3272:0.2624	8.112	0.30078	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	517.43	35	chr5	157488273	.	C	T	517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=374;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.132;SOR=0.96	GT:AD:DP:GQ:PL	0/1:35,22:57:99:529,0,851	9	0	1	0
chr5	169598495	169598495	A	T	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon9:c.A1052T:p.E351V,SPDL1:NM_001329640:exon9:c.A1052T:p.E351V,SPDL1:NM_001329641:exon9:c.A1052T:p.E351V,SPDL1:NM_017785:exon9:c.A1052T:p.E351V,SPDL1:NM_001329642:exon10:c.A839T:p.E280V,SPDL1:NM_001329643:exon10:c.A839T:p.E280V	.	458	1026	36	2	0	40	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0070	0.0016	0.0024	0	0.0009	0.0063	0.0143	0.0221	0.0066041	1021	154602	rs143453400	0.0074	0.0075	0.0069	0.0079	0.0223	0.0073	0.0073	0.0215	0.0211	0.0011	0.0027	0.0213	0.0001	0.0012	0.0123	0.0069	0.0078	0.0223	0.0054	0.0054	0.0056	0.0052	0.0263	0.0051	0.0050	0.0226	0.0212	0.0012	0	0.0033	0.0231	0.0002	0.0009	0.0102	0.0073	0.0047	0.0263	0.038	0.42783	D	0.049	0.48336	D	0.383	0.34425	B	0.151	0.34210	B	0.005567	0.32687	N	0.342683	0.653632	0.30511	N	1.24	0.30952	L	1.27	0.36146	T	-2.9	0.60827	D	0.574	0.59648	-0.8781	0.49911	T	0.113	0.40331	T	10	0.004106611	0.00081	T	.	.	.	0.069	0.20116	.	.	0.493964856914	0.49030	0.10170001217084026	0.10100	0.195775768481	0.21932	0.405035167933	0.25769	T	0.068886	0.33570	T	-0.487323	0.00672	T	-0.455863	0.27051	T	0.0214386891831938	0.00847	T	0.731327	0.34690	T	0.10228599	0.24167	0.10267653	0.24615	0.10732706	0.25379	0.10267653	0.24614	-4.592	0.32071	T	.	.	0.116	0.23219	B	.	.	4.513245	0.70700	25.6	0.99283097900901096	0.57973	0.92365	0.55543	D	AEFBI	0.293992	0.40448	N	0.150376278577631	0.48831	3.090472	0.22321824879197	0.51139	3.299027	0.99997338782583	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.010000	0.49246	5.961000	0.51824	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.7774:0.1482:0.0744:0.0	7.067	0.24336	930	0.16408	.	.	.	.	.	.	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	0.007049	0.005051	0.010870	0.000000	0.000000	0.017241	0.009146	0.003788	0.05	1069.43	33	chr5	169598495	.	A	T	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.973;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.033;SOR=0.743	GT:AD:DP:GQ:PL	0/1:30,45:75:99:1081,0,712	9	0	1	0
chr5	169985868	169985868	T	C	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon29:c.T2939C:p.I980T	Immunodeficiency 40, Autosomal recessive	430	1089	3	0	0	3	0.00137552	.	.	.	721376	DOCK2_deficiency	MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.514	0.0158456984483	0.0009	0.000798722	0.0010	0	0.0006	0.0001	0.0008	0.0010	0	0.0026	0.0008861	137	154602	rs148694888	0.0008	0.0008	0.0007	0.0009	0.0034	0.0008	0.0008	0.0031	0.0029	8.98e-05	0.0006	0.0019	2.524e-05	0.0007	0.0024	0.0007	0.0007	0.0034	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	0.0001	0	0.0010	0.0009	0	0.0004	0	0.0008	0.0009	0.0019	0.001	0.78490	D	0.002	0.79402	D	0.993	0.65571	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999963	0.54805	D	2.56	0.74772	M	3.65	0.04267	T	-3.64	0.69835	D	0.86	0.85660	-1.1941	0.00199	T	0.046	0.19680	T	10	0.070332766	0.10217	T	0.015846	0.36807	T	0.514	0.79217	.	.	0.783073622163	0.78106	0.6449570072435366	0.64430	1.59919968995	0.88670	0.789665818214	0.80391	T	0.462914	0.79908	T	-0.0959517	0.37093	T	0.0844689	0.75877	D	0.067292109131813	0.08266	T	0.848915	0.53103	T	0.694089	0.77734	0.5827619	0.75810	0.691178	0.77577	0.56450844	0.74797	-10.519	0.76956	D	.	.	0.460	0.62674	A	.;.	.;.	4.796339	0.77887	26.8	0.99827943881106218	0.91026	0.98385	0.82238	D	AEFBI	0.896280	0.83718	D	0.713393650631618	0.80511	7.310196	0.678330182061529	0.80736	7.365828	0.999999999999368	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.33	5.33	0.75683	8.017000	0.88732	6.144000	0.54095	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.328	0.73896	962	0.08456	.;.	.	.	.	.	.	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	0.05	1932.43	35	chr5	169985868	.	T	C	1932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=518;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.106;SOR=0.837	GT:AD:DP:GQ:PL	0/1:99,84:183:99:1944,0,2439	9	0	1	0
chr5	179033399	179033399	A	T	exonic	ZNF879	.	nonsynonymous SNV	ZNF879:NM_001353374:exon4:c.A1451T:p.Y484F,ZNF879:NM_001136116:exon5:c.A1451T:p.Y484F,ZNF879:NM_001353372:exon5:c.A1451T:p.Y484F,ZNF879:NM_001353373:exon5:c.A1451T:p.Y484F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00307344549787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300187175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.15	0.32461	T	0.012	0.16265	B	0.021	0.19346	B	.	.	.	.	0.961924	0.26087	N	0.59	0.15444	N	2.22	0.18248	T	-3.17	0.64363	D	0.264	0.29889	-1.0624	0.11166	T	0.025	0.10598	T	9	0.0826537	0.13664	T	0.003073	0.06636	T	0.051	0.14325	0.426	0.47185	0.0762999501168	0.06990	0.035588677158009924	0.03505	0.572056272274	0.53309	0.718844532967	0.69878	T	0.044712	0.26900	T	-0.20099	0.20661	T	-0.526485	0.19639	T	0.321743225778202	0.25892	T	0.392161	0.09760	T	0.1695287	0.37474	0.15822533	0.36960	0.1695287	0.37474	0.15822533	0.36959	-7.126	0.54948	T	.	.	0.137	0.29806	B	.	.	3.269500	0.44751	22.0	0.98155012648826256	0.38722	0.05957	0.11915	N	AEFBHCI	.	.	.	-0.457217127871212	0.23497	1.262185	-0.342222538897062	0.26749	1.479602	0.19029390112816	0.17991	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.37	3.11	0.34883	0.544000	0.22960	6.738000	0.56476	0.756000	0.94297	0.001000	0.13787	1.000000	0.68203	0.999000	0.91618	0.6887:0.0:0.0:0.3113	6.780	0.22827	620	0.66037	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	.	.	.	.	.	.	.	.	0.05	650.43	42	chr5	179033399	.	A	T	650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=332;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-0.94;SOR=0.859	GT:AD:DP:GQ:PL	0/1:14,23:37:99:662,0,327	9	0	1	0
chr5	179766269	179766269	C	T	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon2:c.C1259T:p.P420L	.	429	1084	9	0	0	9	0.00413413	.	.	.	2194661	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0135658373898	0.0016	0.000399361	0.0008	0.0003	0.0005	0.0006	0.0002	0.0010	0	0.0007	0.0007568	117	154602	rs141578236	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0004	0.0010	0.0003	0.0005	0.0005	0.0018	0.0013	0.0007	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0013	0.0013	0.0004	0	0.0001	0.0003	0.0008	9.454e-05	0.0034	0.0016	0.0009	0.0006	0.118	0.28148	T	0.065	0.44702	T	0.797	0.44809	P	0.036	0.22909	B	0.499679	0.11964	N	0.769658	0.999998	0.08975	N	1.95	0.52479	M	1.89	0.23688	T	-1.69	0.40274	N	0.213	0.23758	-1.0828	0.06814	T	0.038	0.16376	T	10	0.023789525	0.00633	T	0.013566	0.33074	T	0.072	0.21020	.	.	0.171220215726	0.16700	0.2508113824650609	0.24995	0.134283164794	0.15126	0.364984929562	0.20109	T	0.337541	0.70691	T	-0.569915	0.00222	T	-0.616048	0.11499	T	0.94418853521347	0.62009	D	.	.	.	0.054049257	0.10317	0.04752621	0.06865	0.054049257	0.10316	0.04752621	0.06865	-3.366	0.14602	T	.	.	0.080	0.07889	B	.	.	1.681768	0.21430	15.20	0.81440286825504127	0.13686	0.27725	0.23357	N	AEFDBI	0.242918	0.36428	N	-0.706381533095554	0.15842	0.8019813	-0.774979093623219	0.15110	0.7930227	0.999999959374119	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	4.88	1.55	0.22356	1.972000	0.40163	1.581000	0.27475	0.549000	0.26987	0.005000	0.17040	0.001000	0.17328	0.020000	0.11549	0.6938:0.3062:0.0:0.0	11.619	0.50367	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	920.43	34	chr5	179766269	.	C	T	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=0.601;SOR=0.612	GT:AD:DP:GQ:PL	0/1:79,39:118:99:932,0,2175	9	0	1	0
chr6	16327684	16327684	A	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6945.76	40	chr6	16327684	.	A	*	6945.76	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=829;ExcessHet=2.4664;FS=2.43;InbreedingCoeff=-0.2;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=0;QD=21.5;ReadPosRankSum=1.54;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,15:24:99:1|0:16327672_C_A:1296,334,987:16327672	9	0	1	0
chr6	18161343	18161343	C	T	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon4:c.C104T:p.T35I,KDM1B:NM_153042:exon4:c.C104T:p.T35I	.	420	1100	2	0	0	2	0.000908265	.	.	.	710352	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0095	0.00898562	0.0031	0.0316	0.0015	0	0	0.0003	0.0022	6.061e-05	0.002956	457	154602	rs115866051	0.0012	0.0012	0.0013	0.0011	0.0334	0.0012	0.0012	0.0318	0.0311	0.0334	0.0024	7.653e-05	0	0	0.0066	0.0003	0.0028	0.0002	0.0090	0.0090	0.0094	0.0086	0.0308	0.0086	0.0084	0.0294	0.0288	0.0308	0	0.0043	0	0	0	0.0068	0.0002	0.0057	0.0004	0.023	0.48186	D	0.044	0.49663	D	.	.	.	.	.	.	0.957906	0.07698	N	1.019820	1	0.28053	N	0.895	0.22405	L	1.53	0.30401	T	-0.41	0.14000	N	0.071	0.04426	-0.9983	0.30395	T	0.025	0.10643	T	10	0.0032545626	0.00056	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.4465829560368263	0.44576	0.700554390596	0.61102	0.392657339573	0.24043	T	.	.	.	-0.684056	0.00045	T	-0.731691	0.04251	T	0.0147689463957161	0.00309	T	0.871313	0.57716	D	.	.	.	.	.	.	.	.	-3.748	0.20029	T	.	.	0.075	0.17573	B	.;.	.;.	1.414225	0.18301	13.66	0.98801408022874204	0.46461	0.19491	0.20681	N	AEFDGBI	0.074815	0.15006	N	-0.734725947031744	0.15052	0.7551514	-0.680058957718645	0.17459	0.9284922	0.999996258404146	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.78	3.04	0.34171	2.865000	0.48111	1.440000	0.26519	-0.225000	0.07834	0.046000	0.21249	0.001000	0.17328	0.284000	0.24115	0.1403:0.6408:0.0:0.219	5.422	0.15704	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.013587	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1490.43	41	chr6	18161343	.	C	T	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.789;DP=455;ExcessHet=0;FS=3.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.051;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,59:110:99:1|0:18161332_G_A:1502,0,1863:18161332	9	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1640.75	71	chr6	24145554	.	C	T	1640.75	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,26:63:99:0|1:24145553_A_G:237,0,533:24145553	5	0	5	0
chr6	25923906	25923906	C	T	exonic	SLC17A2	.	nonsynonymous SNV	SLC17A2:NM_001286125:exon2:c.G29A:p.G10D,SLC17A2:NM_001286123:exon3:c.G29A:p.G10D,SLC17A2:NM_005835:exon3:c.G29A:p.G10D	.	430	1036	49	7	0	63	0.0295082	0.7839	0.638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00698882	0.0101	0.0021	0.0070	0.0007	0.0035	0.0088	0.0156	0.0296	0.0091461	1414	154602	rs111909699	0.0075	0.0076	0.0064	0.0086	0.0313	0.0074	0.0074	0.0304	0.0300	0.0036	0.0073	0.0409	0.0007	0.0017	0.0286	0.0053	0.0098	0.0313	0.0062	0.0062	0.0059	0.0066	0.0263	0.0059	0.0058	0.0226	0.0212	0.0020	0.0088	0.0084	0.0357	0.0029	0.0022	0.0340	0.0060	0.0085	0.0263	0.075	0.34444	T	0.076	0.43344	T	0.007	0.14184	B	0.011	0.17743	B	0.019937	0.27150	N	0.266084	0.609647	0.30871	N	1.625	0.41611	L	-0.36	0.68754	T	-3.25	0.65283	D	0.216	0.24135	-1.0356	0.18668	T	0.091	0.34874	T	10	0.0032121837	0.00055	T	0.007218	0.19143	T	0.081	0.23632	.	.	.	.	0.3683833381169317	0.36752	0.288833652851	0.31292	0.336609959602	0.15930	T	0.249732	0.61973	T	-0.404966	0.02148	T	-0.33217	0.41227	T	0.0156558679385458	0.00359	T	0.360464	0.12562	T	0.14079377	0.32469	0.17332493	0.39651	0.14079377	0.32469	0.17332493	0.39650	-6.448	0.49884	T	.	.	0.115	0.23077	B	.;.;.	.;.;.	2.167978	0.27628	17.53	0.9886795882934537	0.47597	0.08222	0.14179	N	AEFGBI	0.131061	0.24985	N	-0.52049312443909	0.21418	1.136514	-0.445891988888644	0.23666	1.291768	0.0923378630642152	0.16156	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.11	3.2	0.35826	-0.213000	0.09309	0.808000	0.21724	0.599000	0.40250	0.011000	0.18532	0.956000	0.29165	0.932000	0.46971	0.1819:0.6427:0.1754:0.0	8.040	0.29677	496	0.76301	.;.;.	.	.	.	.	.	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	0.026423	0.010309	0.028533	0.038690	0.050000	0.000000	0.024845	0.022727	0.05	283.43	27	chr6	25923906	.	C	T	283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.553;DP=261;ExcessHet=0;FS=2.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.041;SOR=0.275	GT:AD:DP:GQ:PL	0/1:8,11:19:99:295,0,281	9	0	1	0
chr6	26368256	26368256	C	T	exonic	BTN3A2	.	nonsynonymous SNV	BTN3A2:NM_001197246:exon1:c.C74T:p.T25I,BTN3A2:NM_001197247:exon3:c.C74T:p.T25I,BTN3A2:NM_007047:exon3:c.C74T:p.T25I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0013209002674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.018	0.64786	D	0.949	0.53761	P	0.476	0.46961	P	.	.	.	.	1	0.08975	N	2.34	0.67151	M	3.34	0.06063	T	-1.31	0.32791	N	0.13	0.17553	-1.0084	0.27416	T	0.010	0.03537	T	9	0.16879958	0.31453	T	0.001321	0.01860	T	0.050	0.13987	0.484	0.56621	0.347879110917	0.34393	0.17485282138062166	0.17404	2.91440076523	0.99114	0.535364985466	0.43791	T	0.008072	0.07427	T	-0.230263	0.16614	T	-0.568533	0.15585	T	0.41487518484862	0.29500	T	0.117988	0.02126	T	0.035362504	0.04147	0.040106356	0.04260	0.035362504	0.04147	0.040106356	0.04259	-6.163	0.47623	T	.	.	0.124	0.26010	B	.;.;.;.;.	.;.;.;.;.	1.767789	0.22482	15.64	0.9769154902152094	0.35376	0.00557	0.02543	N	AEFI	0.046465	0.07720	N	-0.482748322675597	0.22645	1.210686	-0.738748432062365	0.15999	0.8442611	0.9957487983165	0.34300	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.12	0.102	0.13827	-0.829000	0.04522	-4.148000	0.02315	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.299000	0.24476	0.4659:0.3749:0.0:0.1592	2.962	0.05536	712	0.56465	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2870.43	33	chr6	26368256	.	C	T	2870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=652;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.29;MQRankSum=-6.394;QD=12.06;ReadPosRankSum=-1.097;SOR=0.705	GT:AD:DP:GQ:PL	0/1:115,123:238:99:2882,0,2776	9	0	1	0
chr6	26451796	26451796	G	T	exonic	BTN3A3	.	nonsynonymous SNV	BTN3A3:NM_001242803:exon6:c.G510T:p.W170C,BTN3A3:NM_197974:exon10:c.G993T:p.W331C,BTN3A3:NM_006994:exon11:c.G1140T:p.W380C	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00299521	0.0009	0.0092	0.0003	0	0	7.493e-05	0	0	0.0008797	136	154602	rs116318960	0.0003	0.0003	0.0003	0.0003	0.0099	0.0003	0.0003	0.0090	0.0086	0.0099	0.0004	0	0	0	0.0012	3.058e-05	0.0008	2.319e-05	0.0024	0.0024	0.0025	0.0023	0.0083	0.0022	0.0022	0.0076	0.0073	0.0083	0	0.0007	0	0	0	0	7.351e-05	0.0043	0	0.168	0.23007	T	0.197	0.29442	T	0.994	0.66517	D	0.885	0.62825	P	.	.	.	.	0.999999	0.08975	N	-0.365	0.03101	N	2.96	0.09542	T	1.58	0.04022	N	0.105	0.16864	-1.0716	0.09065	T	0.009	0.03227	T	9	0.003005147	0.00049	T	.	.	.	0.080	0.23350	0.541	0.65304	0.0986583533028	0.09354	0.15523483979177866	0.15444	0.2127558496	0.23780	0.231195509434	0.02057	T	0.014561	0.12376	T	-0.598234	0.00149	T	-0.626407	0.10688	T	0.0095252678148882	0.00123	T	0.783622	0.42065	T	0.22582486	0.45251	0.16053367	0.37385	0.22582486	0.45251	0.16053367	0.37384	-3.033	0.10541	T	.	.	0.825	0.78457	P	.;.;.	.;.;.	0.729886	0.10990	7.652	0.31566683993509831	0.01785	0.00586	0.02635	N	AEFGBI	0.045146	0.07349	N	-1.40250082894442	0.02617	0.1158052	-1.60218967271139	0.01642	0.07452605	0.999999825857087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.95	-5.9	0.02087	-6.345000	0.00086	-11.114000	0.00634	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2898:0.1617:0.5485	6.367	0.20664	667	0.61242	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|Butyrophilin subfamily 3, PRY/SPRY domain;.;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1553.43	34	chr6	26451796	.	G	T	1553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.701;DP=521;ExcessHet=0;FS=1.21;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=2.24;SOR=0.757	GT:AD:DP:GQ:PL	0/1:93,73:166:99:1565,0,2275	9	0	1	0
chr6	27310642	27310642	C	T	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.G1529A:p.G510E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00668419276097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.073	0.43159	T	.	.	.	.	.	.	0.236612	0.15804	N	0.465312	1	0.08975	N	1.07	0.27075	L	1.92	0.23082	T	-4.17	0.75456	D	0.32	0.36043	-1.0041	0.28725	T	0.021	0.08686	T	10	0.13414446	0.25530	T	0.006684	0.17642	T	0.143	0.38195	0.18	0.08751	0.192905019026	0.18896	0.3533104726816691	0.35245	.	.	0.318382441998	0.13175	T	0.093989	0.39324	T	-0.0476337	0.44807	T	-0.306199	0.44067	T	0.84768271446228	0.49967	D	0.453855	0.12912	T	0.2968062	0.52616	0.38340625	0.63305	0.2968062	0.52616	0.38340625	0.63305	-4.262	0.27641	T	.	.	0.202	0.42664	B	.	.	1.977534	0.25120	16.65	0.94001136403262431	0.24095	0.11375	0.16592	N	AEFDBI	0.060594	0.11524	N	-0.597403043771207	0.19023	0.992391	-0.774832773255192	0.15113	0.793231	5.53285338380474E-4	0.07304	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.16	0.114	0.13945	1.592000	0.36286	0.497000	0.18957	0.469000	0.21855	0.087000	0.22510	0.002000	0.18203	0.137000	0.19835	0.0:0.3995:0.5021:0.0984	7.524	0.26816	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1365.43	66	chr6	27310642	.	C	T	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.28;DP=600;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-1.688;SOR=0.786	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1377,0,889	9	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	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	0.014099	0.000000	0.005435	0.035088	0.000000	0.008621	0.009146	0.037879	0.05	1790.43	35	chr6	27957616	.	A	G	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.009;DP=465;ExcessHet=0;FS=0.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=2.31;SOR=0.639	GT:AD:DP:GQ:PL	0/1:70,72:142:99:1802,0,1803	9	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1452.34	107	chr6	29942948	.	C	*	1452.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.5;DP=904;ExcessHet=0.7463;FS=13.851;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.111;MQ=58.94;MQRankSum=-1.391;QD=4.78;ReadPosRankSum=1.72;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,13:115:99:0|1:29942911_A_G:239,0,4244:29942911	7	0	2	1
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	0.1	3135.14	129	chr6	29944308	.	C	T	3135.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.888;DP=1223;ExcessHet=0.2348;FS=0.455;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=43.83;MQRankSum=0.115;QD=10.92;ReadPosRankSum=0.361;SOR=0.653	GT:AD:DP:GQ:PL	0/1:107,51:158:99:1756,0,4080	8	0	2	0
chr6	30602902	30602910	GGACCCCCT	-	exonic	PPP1R10	.	nonframeshift deletion	PPP1R10:NM_001376195:exon18:c.1893_1901del:p.G635_P637del,PPP1R10:NM_002714:exon18:c.1893_1901del:p.G635_P637del	.	322	1177	23	0	0	23	0.00967606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00758786	0.0072	0.0114	0.0194	0.0013	0	0.0106	0.0140	0.0012	0.0018057	47	26028	rs567936494	0.0073	0.0073	0.0074	0.0072	0.0265	0.0072	0.0072	0.0230	0.0217	0.0088	0.0103	0.0095	0	0.0008	0.0265	0.0079	0.0096	0.0015	0.0092	0.0092	0.0099	0.0084	0.0118	0.0088	0.0086	0.0109	0.0106	0.0118	0.0011	0.0112	0.0092	0	0.0005	0.0340	0.0095	0.0161	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	955.39	36	chr6	30602901	.	AGGACCCCCT	A	955.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.849;SOR=0.64	GT:AD:DP:GQ:PL	0/1:44,27:71:99:967,0,1741	9	0	1	0
chr6	30949584	30949640	ACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	-	exonic	MUCL3	.	nonframeshift deletion	MUCL3:NM_080870:exon2:c.1120_1176del:p.A388_T406del	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.875e-05	0	0	0	0	0.0002	0	0	.	.	.	.	0.0031	0.0031	0.0031	0.0031	0.0359	0.0030	0.0030	0.0342	0.0336	0.0026	0.0051	0.0046	0.0359	0.0004	0.0109	0.0021	0.0042	0.0006	0.0041	0.0053	0.0043	0.0039	0.0063	0.0039	0.0037	0.0046	0.0042	0.0044	0.0011	0.0055	0.0058	0.0063	0.0010	0.0036	0.0040	0.0076	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3741.39	456	chr6	30949583	.	CACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	C	3741.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.05;DP=3691;ExcessHet=0;FS=8.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.74;MQRankSum=-2.479;QD=10.84;ReadPosRankSum=-1.033;SOR=0.634	GT:AD:DP:GQ:PL	0/1:228,117:345:99:3753,0,8313	9	0	1	0
chr6	30986961	30986961	-	ACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA	exonic	MUC21	.	nonframeshift insertion	MUC21:NM_001010909:exon2:c.786_787insACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA:p.A267_G268insSTATNSESSTTSSGASTATNSDSSTTSSGA,MUC21:NM_001322371:exon3:c.786_787insACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA:p.S273_D274insESSTTSSGASTATNSDSSTTSSGASTATNS,MUC21:NM_001322370:exon4:c.786_787insACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA:p.D274_P567delinsESSTTSSGASTATNSDSSTTSSGASTATNSDSSTVSSGASTATNSESSTTSSGASTATNSESSTTSSGASTATNSDSSTTSSGAGTATNSESSTVSSGISTVTNSESSTPSSGANTATNSESSTTSSGANTATNSESSTVSSGASTATNSESSTTSSGVSTATNSESSTTSSGASTATNSDSSTTSSEASTATNSESSTVSSGISTVTNSESSTTSSGANTATNSGSSVTSAGSGTAALTGMHTTSHSASTAVSEAKPGGSLVPWEIFLITLVSVVAAVGLFAGLFFCVRNSLSLRNTFNTAVYHPHGLNHGLGPGPGGNHGAPHRPRWSPNWFWRRPVSSIAMEMSGRNSGP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0011	0.0002	0.0003	0.0021	0.0002	0.0002	0.0017	0.0015	0.0002	0.0003	0.0015	0.0021	0.0004	0	0.0001	0.0004	0.0001	4.59e-05	6.34e-05	5.984e-05	3.132e-05	6.031e-05	1.219e-05	6.38e-06	9.99e-06	3.74e-06	0	0	0	0	0	0.0003	0	6.031e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5710.39	409	chr6	30986961	.	G	GACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA	5710.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.67;DP=3922;ExcessHet=0;FS=1.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.04;MQRankSum=-4.812;QD=19.36;ReadPosRankSum=-15.44;SOR=0.592	GT:AD:DP:GQ:PL	0/1:142,153:295:99:5722,0,4735	9	0	1	0
chr6	31029890	31029890	A	G	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.A4459G:p.T1487A,MUC22:NM_001318484:exon3:c.A4468G:p.T1490A,MUC22:NM_001322469:exon4:c.A4468G:p.T1490A	.	423	1065	31	3	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00978435	0.0084	0.0248	0	0	.	0.0116	0.0085	0.0071	0.0014295	221	154602	rs115600609	0.0028	0.0027	0.0027	0.0030	0.0119	0.0028	0.0027	0.0106	0.0102	0.0116	0.0024	0.0145	0.0033	0.0002	0.0119	0.0017	0.0052	0.0094	0.0051	0.0051	0.0050	0.0052	0.0100	0.0048	0.0047	0.0092	0.0089	0.0100	0	0.0033	0.0158	0.0079	0.0003	0.0137	0.0021	0.0052	0.0096	0.0	0.91255	D	0.108	0.37589	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.85	0.10578	T	-0.61	0.18042	N	0.059	0.03069	.	.	.	.	.	.	.	0.004411578	0.00090	T	.	.	.	.	.	.	.	0.232513804876	0.22884	0.03007226240166345	0.02956	.	.	0.162880569696	0.00014	T	0.003446	0.02849	T	-0.607654	0.00131	T	-0.638807	0.09756	T	.	.	.	0.164384	0.01504	T	0.11273164	0.26630	0.11398023	0.27510	0.11273164	0.26629	0.11398023	0.27509	-6.027	0.46505	T	.	.	0.088	0.11558	B	.	.	1.314220	0.17173	13.00	0.74607163199532822	0.10758	0.03926	0.09316	N	AEFBI	0.016450	0.00370	N	.	.	.	.	.	.	0.00445799850102224	0.10566	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.69	1.34	0.21018	0.798000	0.26674	.	.	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7708:0.0:0.0:0.2292	5.999	0.18740	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005102	0.018987	0.009259	0.000000	0.000000	0.035714	0.000000	0.000000	0.05	6183.43	607	chr6	31029890	.	A	G	6183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=5315;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-2.975;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,244:510:99:0|1:31029890_A_G:6195,0,6650:31029890	9	0	1	0
chr6	31139016	31139016	T	C	exonic	PSORS1C2	.	nonsynonymous SNV	PSORS1C2:NM_014069:exon1:c.A11G:p.N4S	.	424	1067	31	0	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0032	0.00559105	0.0051	0.0008	0.0036	0.0005	0.0011	0.0049	0.0055	0.0138	0.0048835	755	154602	rs148095595	0.0037	0.0037	0.0032	0.0042	0.0224	0.0036	0.0036	0.0192	0.0180	0.0008	0.0052	0.0093	0.0002	0.0006	0.0224	0.0029	0.0044	0.0141	0.0035	0.0035	0.0030	0.0040	0.0145	0.0032	0.0031	0.0118	0.0108	0.0006	0	0.0077	0.0072	0.0006	9.416e-05	0.0204	0.0040	0.0057	0.0145	0.479	0.08261	T	0.091	0.40110	T	0.004	0.12183	B	0.003	0.08700	B	0.857925	0.08916	N	0.910449	0.999996	0.58761	D	0.625	0.15840	N	1.94	0.22678	T	-0.3	0.11913	N	0.046	0.01825	-0.9539	0.40292	T	0.010	0.03582	T	10	0.005170852	0.00112	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.058212489981228153	0.05762	0.265596492825	0.29113	0.285623818636	0.08289	T	0.003909	0.03323	T	-0.715145	0.00030	T	-0.788356	0.02210	T	0.00922209648767378	0.00117	T	0.562444	0.19755	T	0.030201409	0.02641	0.026703754	0.00774	0.030201409	0.02641	0.026703754	0.00774	-2.024	0.03273	T	.	.	0.081	0.08368	B	.	.	0.609226	0.09775	6.543	0.9529271797190062	0.26602	0.11298	0.16541	N	AEFDBCI	0.071048	0.14128	N	-1.10584607114366	0.06538	0.3012569	-1.14182271404028	0.06916	0.3345273	0.99999588345578	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.562822	0.20929	0	.	.	4.68	-5.52	0.02358	-0.717000	0.05088	.	.	0.597000	0.34315	0.434000	0.26440	0.000000	0.08366	0.803000	0.37862	0.0:0.3563:0.2889:0.3548	5.429	0.15744	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020087	0.005051	0.024457	0.015464	0.000000	0.008621	0.024390	0.011364	0.1	2465.14	59	chr6	31139016	.	T	C	2465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.3;DP=634;ExcessHet=0.2348;FS=2.174;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.478;SOR=0.849	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1147,0,1574	8	0	2	0
chr6	31162515	31162515	C	T	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon4:c.C836T:p.A279V,TCF19:NM_007109:exon4:c.C836T:p.A279V,TCF19:NM_001318908:exon5:c.C836T:p.A279V	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0098	0.0121805	0.0069	0.0208	0.0043	0.0004	0.0009	0.0051	0.0058	0.0141	0.0061836	956	154602	rs77870954	0.0043	0.0043	0.0039	0.0048	0.0238	0.0042	0.0042	0.0205	0.0197	0.0215	0.0064	0.0093	0.0002	0.0006	0.0238	0.0030	0.0058	0.0143	0.0088	0.0088	0.0085	0.0092	0.0189	0.0084	0.0083	0.0178	0.0173	0.0189	0	0.0098	0.0072	0.0006	9.429e-05	0.0238	0.0042	0.0095	0.0146	0.145	0.25154	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.446526	0.04790	N	1.335570	0.999994	0.08975	N	1.1	0.28011	L	1.92	0.23082	T	-0.8	0.22078	N	0.026	0.01004	-0.9747	0.36191	T	0.014	0.05513	T	10	0.0027285218	0.00042	T	.	.	.	0.003	0.00094	.	.	0.0551355673512	0.04727	0.38362942939470823	0.38277	0.49660854432	0.48164	0.361448168755	0.19597	T	0.002216	0.01614	T	-0.725905	0.00025	T	-0.800552	0.01889	T	0.000636903538643171	0.00006	T	0.330167	0.06908	T	0.039620284	0.05505	0.02574424	0.00631	0.039620284	0.05504	0.02574424	0.00630	-3.514	0.16628	T	.	.	0.075	0.05668	B	.;.	.;.	-0.265624	0.02772	0.375	0.9307783710340356	0.22696	0.01652	0.05304	N	AEFDBHCI	0.065613	0.12808	N	-1.19943932523531	0.05010	0.2273709	-1.22629162905742	0.05491	0.2617625	0.999999986182396	0.74766	0.839682	0.99964	0	0.685571	0.66316	0	0.736553	0.94036	0	0.683762	0.67416	0	.	.	4.74	-0.546	0.11248	-1.094000	0.03470	.	.	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3883:0.4132:0.118:0.0806	4.204	0.09939	929	0.16858	.;.	.	.	.	.	rs116585049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023810	0.010101	0.032609	0.016393	0.000000	0.008772	0.024390	0.011364	0.1	2056.14	35	chr6	31162515	.	C	T	2056.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.046;DP=469;ExcessHet=0.2348;FS=1.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.895;SOR=0.815	GT:AD:DP:GQ:PL	0/1:38,35:73:99:844,0,907	8	0	2	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,12:46:99:0|1:31356711_C_CGGAG:402,0,1392:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,12:46:99:0|1:31356711_C_CGGAG:402,0,1392:31356711	2	3	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,59:144:99:0|1:31356809_C_T:2212,0,3375:31356809	1	5	4	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,16:94:99:.:.:136,0,2604:.	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,12:92:99:.:.:117,0,2605:.	0	0	10	0
chr6	31656057	31656057	A	G	exonic	APOM	.	nonsynonymous SNV	APOM:NM_019101:exon1:c.A91G:p.T31A	.	422	1070	29	1	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0039	0.00579073	0.0125	0.0013	0.0092	0.0083	0.0033	0.0155	0.0140	0.0137	0.0045536	704	154602	rs150345955	0.0044	0.0044	0.0040	0.0048	0.0256	0.0043	0.0043	0.0222	0.0209	0.0009	0.0047	0.0399	0.0009	0.0007	0.0256	0.0031	0.0072	0.0123	0.0046	0.0046	0.0041	0.0051	0.0133	0.0043	0.0042	0.0107	0.0097	0.0008	0	0.0067	0.0363	0.0023	0.0005	0.0238	0.0048	0.0081	0.0133	0.554	0.06502	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	0.067749	0.21719	N	0.431594	1	0.20103	N	0.28	0.10031	N	.	.	.	-0.45	0.14782	N	0.037	0.01135	-0.9981	0.30451	T	0.024	0.10419	T	9	0.0020104945	0.00028	T	.	.	.	0.051	0.14325	.	.	0.0551355673512	0.04727	0.5968379005749489	0.59614	0.237888243689	0.26336	0.334143459797	0.15558	T	0.107038	0.41890	T	-0.691459	0.00041	T	-0.755622	0.03272	T	0.000514297947003674	0.00004	T	.	.	.	0.1760022	0.38489	0.0974176	0.23188	0.1760022	0.38489	0.0974176	0.23187	-3.217	0.12689	T	.	.	0.069	0.03060	B	.	.	0.009654	0.04351	1.112	0.72547327394282368	0.10012	0.10028	0.15645	N	AEFGBHCI	0.447920	0.50337	N	-0.909602298151685	0.10617	0.5081887	-0.938578513546603	0.11190	0.5684995	0.999999973862145	0.74766	0.679555	0.55442	0	0.379588	0.06130	0	0.600882	0.32295	2	0.727631	0.95156	0	.	.	5.16	-5.72	0.02211	-0.473000	0.06694	.	.	0.747000	0.86732	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.3636:0.3672:0.1584:0.1107	2.470	0.04283	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023472	0.010204	0.032698	0.015957	0.000000	0.008772	0.021341	0.007576	0.05	606.43	35	chr6	31656057	.	A	G	606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.978;DP=374;ExcessHet=0;FS=2.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.21;SOR=0.426	GT:AD:DP:GQ:PL	0/1:30,29:59:99:618,0,778	9	0	1	0
chr6	31719250	31719250	G	C	exonic	LY6G6C	.	nonsynonymous SNV	LY6G6C:NM_025261:exon3:c.C224G:p.A75G	.	415	1077	29	1	0	31	0.0141876	.	.	.	710408	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0039	0.00898562	0.0069	0.0006	0.0039	0.0157	0.0005	0.0068	0.0066	0.0112	0.0064876	1003	154602	rs117894946	0.0057	0.0057	0.0052	0.0061	0.0443	0.0056	0.0055	0.0426	0.0419	0.0010	0.0048	0.0398	0.0443	0.0007	0.0258	0.0032	0.0073	0.0122	0.0051	0.0051	0.0046	0.0055	0.0152	0.0048	0.0046	0.0125	0.0115	0.0008	0	0.0069	0.0363	0.0152	0.0005	0.0238	0.0049	0.0080	0.0134	0.397	0.11191	T	0.477	0.16717	T	0.0	0.02946	B	0.002	0.06944	B	0.160136	0.17689	N	0.473300	1	0.08975	N	0.46	0.12951	N	-2.74	0.90735	D	-1.33	0.33197	N	0.086	0.06322	-0.8717	0.50401	T	0.183	0.53118	T	10	0.0016444623	0.00020	T	.	.	.	0.087	0.25287	.	.	0.0986583533028	0.09354	0.39497276819247984	0.39412	0.350227071823	0.36867	0.352285891771	0.18258	T	0.026541	0.19622	T	-0.414327	0.01861	T	-0.356897	0.38410	T	0.00149840095944933	0.00015	T	.	.	.	0.033119746	0.03467	0.05336692	0.08975	0.033119746	0.03467	0.05336692	0.08975	-3.533	0.16897	T	.	.	0.098	0.23077	B	.;.	.;.	1.056704	0.14384	10.96	0.90474642300220276	0.19732	0.01775	0.05566	N	AEFBI	0.071334	0.14196	N	-1.02058554680631	0.08177	0.3825018	-0.966148112167591	0.10551	0.5321079	0.999613741785482	0.40981	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.03	0.842	0.18064	0.154000	0.16160	.	.	0.604000	0.46097	0.002000	0.15269	0.000000	0.08366	0.829000	0.39076	0.1919:0.1604:0.4829:0.1648	1.705	0.02706	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	1	0	0.024510	0.010101	0.032609	0.015957	0.000000	0.008621	0.021341	0.007576	0.05	2302.43	36	chr6	31719250	.	G	C	2302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.376;DP=540;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.021;SOR=0.792	GT:AD:DP:GQ:PL	0/1:93,100:193:99:2314,0,2252	9	0	1	0
chr6	31740528	31740528	C	T	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon2:c.C62T:p.S21F,MSH5:NM_025259:exon2:c.C62T:p.S21F,MSH5:NM_172165:exon2:c.C62T:p.S21F,MSH5:NM_172166:exon2:c.C62T:p.S21F	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00861562580546	.	0.000599042	0.0002	0.0011	0.0016	0	0	0	0	0.0001	9.06e-05	14	154602	rs200570010	2.871e-05	2.941e-05	2.552e-05	3.198e-05	0.0007	2.164e-05	1.905e-05	0.0005	0.0004	0.0007	2.838e-05	0	0	0	0.0002	1.114e-05	3.477e-05	2.528e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.538e-05	0	0	0	0.0034	1.47e-05	0.0005	0	0.009	0.61437	D	0.059	0.45961	T	0.063	0.25941	B	0.037	0.29098	B	0.887761	0.08709	N	0.941682	.	.	.	1.245	0.31408	L	1.33	0.35031	T	-0.94	0.25118	N	0.239	0.27197	-1.0170	0.24690	T	0.027	0.11441	T	9	0.016038299	0.00337	T	0.008616	0.22779	T	0.044	0.11924	.	.	0.445910236696	0.44209	0.31936905912409114	0.31849	0.699190003716	0.61010	.	.	.	0.086406	0.37716	T	-0.32741	0.06310	T	-0.376014	0.36187	T	0.140288665890694	0.16300	T	.	.	.	0.03213787	0.03181	0.045818884	0.06249	0.03213787	0.03181	0.045818884	0.06249	-4.979	0.36786	T	.	.	0.108	0.21728	B	.;.;.;.;.	.;.;.;.;.	1.690063	0.21535	15.24	0.97565215621499357	0.34648	0.05468	0.11349	N	AEFDBHCI	0.048018	0.08148	N	-0.833161489396244	0.12468	0.6079518	-0.867260788879578	0.12873	0.6647272	0.999999993902304	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.77	2.02	0.25641	0.347000	0.19760	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7074:0.0:0.2926	6.816	0.23013	889	0.27310	.;.;.;.;.	.	.	.	.	.	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	0.001117	0.000000	0.001385	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	822.43	35	chr6	31740528	.	C	T	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.848;DP=340;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=0.862;SOR=0.379	GT:AD:DP:GQ:PL	0/1:13,31:44:99:834,0,347	9	0	1	0
chr6	31779733	31779733	C	T	exonic	VARS1	.	nonsynonymous SNV	VARS1:NM_006295:exon27:c.G3163A:p.V1055I	.	420	1076	26	0	0	26	0.0119376	.	.	.	710410	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0043	0.0103834	0.0069	0.0008	0.0038	0.0136	0.0005	0.0061	0.0059	0.0143	0.0062806	971	154602	rs5030798	0.0055	0.0055	0.0050	0.0060	0.0440	0.0054	0.0054	0.0423	0.0416	0.0007	0.0044	0.0311	0.0440	0.0007	0.0206	0.0030	0.0068	0.0153	0.0047	0.0047	0.0042	0.0052	0.0159	0.0044	0.0043	0.0131	0.0120	0.0008	0	0.0063	0.0262	0.0143	0.0005	0.0204	0.0046	0.0062	0.0159	0.409	0.10180	T	0.418	0.14200	T	0.69	0.41631	P	0.205	0.37080	B	0.000087	0.51296	N	0.128615	0.987247	0.24536	N	2.075	0.57047	M	2.58	0.13434	T	-0.67	0.19297	N	0.156	0.16168	-1.0054	0.28337	T	0.015	0.05946	T	10	0.004672885	0.00098	T	.	.	.	0.062	0.17934	.	.	0.250512400709	0.24649	0.2745190858688172	0.27364	0.370001137427	0.38527	0.428485929966	0.29001	T	0.005444	0.04891	T	-0.651454	0.00071	T	-0.696221	0.06035	T	0.00591169167620866	0.00065	T	.	.	.	0.016296592	0.00188	0.07550983	0.16630	0.016296592	0.00188	0.07550983	0.16629	-6.096	0.47076	T	.	.	0.084	0.09723	B	.	.	1.129263	0.15156	11.63	0.9357667089964874	0.23421	0.46234	0.27715	N	AEFBCI	0.116620	0.22881	N	-0.540251191564904	0.20791	1.098625	-0.585729892632792	0.19864	1.067732	0.999686028024376	0.41756	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	3.54	0.39650	0.311000	0.19129	.	.	-0.800000	0.03169	0.001000	0.13787	0.001000	0.17328	0.335000	0.25317	0.0:0.8341:0.0:0.1659	10.026	0.41243	895	0.25842	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding|Valyl tRNA synthetase, anticodon-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017429	0.010101	0.016304	0.015957	0.000000	0.008621	0.018293	0.007576	0.05	1900.43	34	chr6	31779733	.	C	T	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=502;ExcessHet=0;FS=5.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.063;SOR=0.403	GT:AD:DP:GQ:PL	0/1:90,84:174:99:1912,0,2113	9	0	1	0
chr6	31869232	31869232	G	C	exonic	SLC44A4	.	nonsynonymous SNV	SLC44A4:NM_001178044:exon12:c.C1030G:p.Q344E,SLC44A4:NM_001178045:exon13:c.C928G:p.Q310E,SLC44A4:NM_025257:exon13:c.C1156G:p.Q386E	.	423	1074	25	0	0	25	0.0115048	.	.	.	710422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.077	.	0.0043	0.00878594	0.0065	0.0007	0.0039	0.0131	0.0005	0.0061	0.0048	0.0125	0.0057891	895	154602	rs117127493	0.0052	0.0052	0.0048	0.0056	0.0402	0.0051	0.0050	0.0386	0.0379	0.0008	0.0044	0.0309	0.0402	0.0007	0.0202	0.0030	0.0065	0.0119	0.0046	0.0046	0.0042	0.0051	0.0135	0.0043	0.0042	0.0108	0.0099	0.0009	0	0.0064	0.0265	0.0133	0.0005	0.0204	0.0047	0.0062	0.0135	0.078	0.33923	T	0.319	0.20357	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.998247	0.22858	N	1.715	0.44382	L	2.0	0.21473	T	-0.46	0.17003	N	0.418	0.50508	-1.0252	0.22017	T	0.022	0.09147	T	9	0.00639078	0.00145	T	.	.	.	0.077	0.22490	.	.	0.112648838833	0.10856	0.43523957592595125	0.43440	0.321883225191	0.34388	0.340873539448	0.16569	T	0.005345	0.04790	T	-0.49694	0.00595	T	-0.476209	0.24851	T	0.0134966109091628	0.00247	T	.	.	.	0.2327637	0.46069	0.31292823	0.57293	0.28253552	0.51290	0.31292823	0.57292	-4.207	0.26853	T	.	.	0.064	0.02228	B	.;.;.;.	.;.;.;.	3.356537	0.46317	22.3	0.9855314332973758	0.42871	0.83893	0.42985	D	AEFDBI	0.703168	0.65929	D	-0.0889971066839063	0.37874	2.209861	0.0838769118871218	0.43739	2.669406	0.897160004420779	0.25995	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.67	4.79	0.60909	3.154000	0.50391	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1533:0.8467:0.0	13.853	0.63005	912	0.21483	.;.;.;.	.	.	.	.	.	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	0.018519	0.010101	0.017663	0.015957	0.000000	0.008772	0.021341	0.007576	0.05	1658.43	40	chr6	31869232	.	G	C	1658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.514;DP=507;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.856;SOR=0.611	GT:AD:DP:GQ:PL	0/1:86,75:161:99:1670,0,2161	9	0	1	0
chr6	32064851	32064851	C	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon19:c.G6811C:p.V2271L,TNXB:NM_019105:exon19:c.G6811C:p.V2271L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	2	1489	31	0	0	31	0.0103024	.	.	.	252300	Cardiovascular_phenotype|not_specified|not_provided|Ehlers-Danlos_syndrome	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	.	0.0042	0.00858626	0.0064	0.0009	0.0035	0.0131	0.0005	0.0061	0.0047	0.0113	0.0057438	888	154602	rs140770834	0.0053	0.0053	0.0049	0.0057	0.0400	0.0052	0.0051	0.0384	0.0377	0.0021	0.0048	0.0296	0.0400	0.0007	0.0235	0.0031	0.0065	0.0119	0.0049	0.0049	0.0044	0.0054	0.0135	0.0046	0.0045	0.0110	0.0100	0.0015	0	0.0066	0.0251	0.0135	0.0005	0.0204	0.0048	0.0066	0.0135	0.304	0.14303	T	0.285	0.21343	T	.	.	.	.	.	.	0.738196	0.06411	N	1.179880	1	0.08975	N	.	.	.	3.65	0.04267	T	-0.89	0.24026	N	0.057	0.02861	-0.9091	0.46965	T	0.003	0.00929	T	10	0.004063517	0.00079	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	.	.	.	.	0.314401507378	0.12573	T	0.034229	0.23238	T	-0.723928	0.00026	T	-0.802261	0.01846	T	0.00382978151694769	0.00041	T	0.0770923	0.00568	T	0.070420764	0.15508	0.044852845	0.05903	0.058034055	0.11625	0.06733073	0.13913	-6.37	0.49275	T	0.12868766263925635	0.13357	0.159	0.35162	B	.;.;.	.;.;.	-1.546072	0.00268	0.004	0.80886153941094774	0.13416	0.00350	0.01805	N	AEFBI	0.070644	0.14031	N	-1.67153355631251	0.00948	0.04104736	-1.77717044078112	0.00835	0.03729989	0.995233291665387	0.34019	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.82	-8.27	0.00892	-2.248000	0.01271	.	.	-4.179000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0889:0.2928:0.2641:0.3542	2.804	0.05089	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021018	0.005208	0.023098	0.026882	0.000000	0.008621	0.022013	0.007576	0.05	1849.43	38	chr6	32064851	.	C	G	1849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=524;ExcessHet=0;FS=9.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.342;SOR=1.167	GT:AD:DP:GQ:PL	0/1:112,79:191:99:1861,0,2688	9	0	1	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7726.93	271	chr6	32521978	.	GT	*	7726.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=5.95;DP=2005;ExcessHet=7.0302;FS=9.754;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=54.56;MQRankSum=-6.638;QD=4.12;ReadPosRankSum=-4.747;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4:79:12:.:.:180,12,0:.	5	2	3	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5589.66	111	chr6	32530183	.	CTT	*	5589.66	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.01;DP=932;ExcessHet=0.0059;FS=6.058;InbreedingCoeff=0.5776;MLEAC=2;MLEAF=0.1;MQ=51.24;MQRankSum=-5.677;QD=11.77;ReadPosRankSum=-1.394;SOR=1.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,60:73:99:.:.:3001,487,339:.	8	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,71:73:99:.:.:3265,220,0:.	4	4	2	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	33773.0	110	chr6	32530185	.	T	*	33773.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.232;DP=1115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=8;MLEAF=0.4;MQ=56.87;MQRankSum=-1.487;QD=31.5;ReadPosRankSum=-1.623;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,11:73:99:.:.:3017,2519,2567:.	5	3	2	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1394.62	202	chr6	32584184	.	G	*	1394.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.01;DP=1914;ExcessHet=0.7463;FS=3.134;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.056;MQ=52.33;MQRankSum=-1.069;QD=2.23;ReadPosRankSum=-5.166;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,88:203:99:0|1:32584134_C_A:3260,0,4528:32584134	8	0	1	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1378.62	202	chr6	32584185	.	C	*	1378.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.35;DP=1923;ExcessHet=0.7463;FS=3.151;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.056;MQ=52.42;MQRankSum=-1.211;QD=2.19;ReadPosRankSum=-5.312;SOR=1.004	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,88:203:99:0|1:32584134_C_A:3260,0,4528:32584134	8	0	1	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,82:212:99:.:.:8902,5459,5212:.	3	0	7	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A,TAP2:NM_018833:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	3	1475	43	1	0	45	0.015025	.	.	.	363959	MHC_class_I_deficiency|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.020697	0.010101	0.033967	0.015957	0.050000	0.008772	0.006098	0.015152	0.05	363.43	37	chr6	32838190	.	A	G	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=324;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.53;SOR=0.657	GT:AD:DP:GQ:PL	0/1:20,17:37:99:375,0,411	9	0	1	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S,PSMB8:NM_148919:exon2:c.A220T:p.T74S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	0	1475	46	1	0	48	0.0160107	.	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Proteosome-associated_autoinflammatory_syndrome|not_specified|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019063	0.010101	0.031250	0.010638	0.050000	0.008621	0.006098	0.015152	0.05	2304.43	38	chr6	32843017	.	T	A	2304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=486;ExcessHet=0;FS=2.963;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.342;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,62:148:99:0|1:32843015_G_T:2316,0,3400:32843015	9	0	1	0
chr6	32978342	32978342	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon9:c.G1795C:p.A599P,BRD2:NM_001199456:exon9:c.G1654C:p.A552P,BRD2:NM_001113182:exon10:c.G1795C:p.A599P,BRD2:NM_005104:exon10:c.G1795C:p.A599P,BRD2:NM_001291986:exon11:c.G1435C:p.A479P	.	427	1078	17	0	0	17	0.00782329	.	.	.	721981	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.113	0.00574968967502	0.0023	0.00339457	0.0042	0.0006	0.0025	0.0004	0.0006	0.0043	0.0058	0.0099	0.0037645	582	154602	rs55952113	0.0032	0.0032	0.0029	0.0034	0.0151	0.0031	0.0031	0.0125	0.0116	0.0020	0.0036	0.0081	0.0001	0.0003	0.0151	0.0027	0.0039	0.0095	0.0028	0.0028	0.0027	0.0030	0.0087	0.0026	0.0025	0.0066	0.0059	0.0009	0	0.0044	0.0060	0.0006	0.0006	0.0034	0.0035	0.0052	0.0087	0.289	0.19710	T	0.358	0.19782	T	0.0	0.02946	B	0.0	0.01387	B	0.026805	0.25858	N	0.278296	0.99981	0.21009	N	0.895	0.22405	L	1.87	0.24085	T	-0.26	0.11185	N	0.324	0.41459	-0.9882	0.33052	T	0.015	0.06282	T	10	0.0055013	0.00121	T	0.00575	0.14922	T	0.113	0.31778	.	.	0.355073828461	0.35122	0.2730421699646963	0.27217	.	.	0.47374778986	0.35196	T	0.087464	0.37947	T	-0.495672	0.00605	T	-0.477668	0.24694	T	0.0175955488927625	0.00492	T	.	.	.	0.07003551	0.15394	0.12965465	0.31171	0.07003551	0.15394	0.12965465	0.31170	-4.476	0.30573	T	.	.	0.074	0.08512	B	.;.;.;.	.;.;.;.	2.931798	0.38952	20.9	0.99319286333896173	0.59317	0.94260	0.60603	D	AEFDBHCI	0.734603	0.68068	D	-0.380615256448882	0.26160	1.425612	-0.208433691736089	0.31232	1.76561	0.999999889662531	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	3.56	0.39892	2.995000	0.49129	.	.	-0.165000	0.11486	0.681000	0.28448	0.775000	0.26732	0.894000	0.43146	0.1846:0.1759:0.6395:0.0	4.976	0.13489	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	0.010893	0.005051	0.017663	0.010638	0.000000	0.000000	0.009146	0.003788	0.05	348.43	54	chr6	32978342	.	G	C	348.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.953;DP=450;ExcessHet=0;FS=1.027;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-0.618;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,20:62:99:360,0,1033	9	0	1	0
chr6	33288380	33288380	G	C	exonic	WDR46	.	nonsynonymous SNV	WDR46:NM_001164267:exon4:c.C289G:p.L97V,WDR46:NM_005452:exon4:c.C451G:p.L151V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00969527678628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.217	0.26145	T	0.78	0.44271	P	0.376	0.43735	B	0.000053	0.53742	D	0.076891	0.99952	0.47407	D	2.255	0.64187	M	2.0	0.25344	T	-0.58	0.17417	N	0.495	0.52829	-1.0724	0.08894	T	0.024	0.10194	T	10	0.18552846	0.33977	T	0.009695	0.25313	T	0.045	0.12272	0.335	0.32329	0.207176502487	0.20327	0.4437816797483691	0.44296	0.821013758435	0.67169	0.51201415062	0.40504	T	0.016969	0.13928	T	-0.133608	0.30912	T	-0.429695	0.29969	T	0.805304646492004	0.46718	D	0.877212	0.76932	D	0.07712438	0.17484	0.07039363	0.14949	0.07712438	0.17484	0.07039363	0.14949	-2.68	0.07136	T	.	.	0.099	0.17189	B	.;.	.;.	2.602013	0.33775	19.44	0.9957433894419544	0.72621	0.89632	0.50221	D	AEFBCI	0.358318	0.44903	N	-0.0443095283566678	0.39858	2.357332	-0.0382030584613099	0.38006	2.233025	0.999805241624929	0.43304	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	4.39	1.48	0.21900	2.244000	0.42775	2.153000	0.30925	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.3048:0.0:0.6952:0.0	7.157	0.24821	658	0.62094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1990.43	95	chr6	33288380	.	G	C	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.502;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.467;SOR=0.726	GT:AD:DP:GQ:PL	0/1:64,84:148:99:2002,0,1599	9	0	1	0
chr6	33320019	33320019	G	C	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon4:c.C1232G:p.A411G,DAXX:NM_001141969:exon5:c.C1457G:p.A486G,DAXX:NM_001141970:exon5:c.C1493G:p.A498G,DAXX:NM_001350:exon5:c.C1457G:p.A486G	.	391	1087	42	2	0	46	0.0207207	.	.	.	721989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.007	.	0.0068	0.00858626	0.0093	0.0017	0.0040	0.0069	0.0020	0.0096	0.0113	0.0208	0.0014553	225	154602	rs146304558	0.0086	0.0086	0.0082	0.0091	0.0195	0.0085	0.0085	0.0187	0.0184	0.0015	0.0041	0.0211	0.0028	0.0015	0.0147	0.0085	0.0079	0.0195	0.0061	0.0061	0.0065	0.0056	0.0195	0.0057	0.0056	0.0163	0.0151	0.0014	0	0.0045	0.0193	0.0035	0.0020	0.0102	0.0085	0.0066	0.0195	0.119	0.28520	T	0.26	0.25061	T	0.033	0.20350	B	0.036	0.22909	B	0.016189	0.01435	N	2.621750	1	0.08975	N	0.69	0.16971	N	3.55	0.04746	T	-0.06	0.07882	N	0.184	0.20793	-0.9107	0.46768	T	0.003	0.00864	T	10	0.0019952655	0.00028	T	.	.	.	0.007	0.00512	.	.	0.248133497653	0.24425	0.027666118405061925	0.02716	0.121482305257	0.13691	0.293815732002	0.09482	T	0.228165	0.59364	T	-0.661	0.00062	T	-0.706662	0.05469	T	0.000391966671527189	0.00003	T	.	.	.	0.034339648	0.03834	0.07082536	0.15094	0.05050827	0.09134	0.07082536	0.15093	-3.71	0.20969	T	.	.	0.082	0.13737	B	.;.;.;.	.;.;.;.	1.618229	0.20675	14.86	0.62516084524372117	0.06983	0.23889	0.22220	N	AEFGBHCI	0.064341	0.12488	N	-1.30553392466674	0.03611	0.1616189	-1.30836099513516	0.04321	0.203565	0.999932882190131	0.46732	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635259	0.50027	0	.	.	4.03	-1.84	0.07387	0.387000	0.20445	0.426000	0.18273	0.650000	0.52971	0.271000	0.25055	0.184000	0.23444	0.944000	0.48669	0.1501:0.0:0.4955:0.3544	6.405	0.20865	587	0.69154	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019063	0.025253	0.025815	0.005319	0.050000	0.008621	0.012195	0.003788	0.05	753.43	39	chr6	33320019	.	G	C	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.134;DP=432;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.768;SOR=0.875	GT:AD:DP:GQ:PL	0/1:51,32:83:99:765,0,1307	9	0	1	0
chr6	33404029	33404029	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G656A:p.R219Q	.	412	1067	42	1	0	44	0.020202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0066	0.00898562	0.0089	0.0020	0.0035	0.0065	0.0018	0.0093	0.0088	0.0199	0.0084928	1313	154602	rs61736175	0.0085	0.0085	0.0080	0.0090	0.0182	0.0083	0.0083	0.0174	0.0171	0.0017	0.0039	0.0223	0.0027	0.0014	0.0135	0.0083	0.0078	0.0182	0.0061	0.0061	0.0065	0.0056	0.0184	0.0057	0.0056	0.0153	0.0142	0.0016	0	0.0041	0.0199	0.0035	0.0020	0.0136	0.0085	0.0066	0.0184	0.62	0.05309	T	0.58	0.08505	T	0.013	0.16609	B	0.002	0.06944	B	0.587486	0.11082	N	0.821323	1	0.08975	N	1.32	0.33002	L	-1.33	0.79854	T	0.75	0.02007	N	0.086	0.06322	-1.0342	0.19109	T	0.099	0.36983	T	10	0.0032759309	0.00056	T	.	.	.	0.108	0.30607	.	.	0.758637590366	0.75644	0.18763110196947	0.18681	0.447445100316	0.44600	0.210918799043	0.00851	T	0.014264	0.12177	T	-0.541748	0.00327	T	-0.536024	0.18690	T	0.000301284946156845	0.00002	T	.	.	.	0.0146959955	0.00104	0.028547987	0.01101	0.0146959955	0.00104	0.028547987	0.01101	-4.48	0.30626	T	.	.	0.064	0.01622	B	.	.	0.249347	0.06286	2.745	0.89166591148968233	0.18567	0.08586	0.14495	N	AEFBCI	0.078759	0.15897	N	-1.02043871544408	0.08180	0.3826558	-1.00375510592156	0.09703	0.4842453	0.992500774861752	0.32863	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.297	0.15011	-0.310000	0.08175	-0.120000	0.11732	-0.123000	0.13640	0.002000	0.15269	0.000000	0.08366	0.040000	0.14268	0.3968:0.0:0.4018:0.2014	3.114	0.05984	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	0.017429	0.020202	0.025815	0.005319	0.050000	0.008621	0.012195	0.007576	0.05	1415.43	39	chr6	33404029	.	G	A	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.58;DP=450;ExcessHet=0;FS=6.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.66;SOR=1.244	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1427,0,1498	9	0	1	0
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	.	.	.	.	.	.	.	.	0.4	139.65	56	chr6	34528878	.	G	C	139.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,16:50:80:.:.:80,0,690:.	1	0	4	5
chr6	34544029	34544029	T	C	exonic	SPDEF	.	nonsynonymous SNV	SPDEF:NM_001252294:exon2:c.A427G:p.I143V,SPDEF:NM_012391:exon2:c.A427G:p.I143V	.	.	.	.	.	.	.	.	.	.	.	3326660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0155969116892	0.0005	.	0.0003	0.0002	0	0	0	0.0005	0	0	0.0002329	36	154602	rs151017071	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0	0.0002	0	0	3.749e-05	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.239e-05	0.0002	0.0002	7.236e-05	0	0	0	0	0	0	0.0003	0	0	0.125	0.28646	T	0.023	0.57104	D	0.941	0.52883	P	0.844	0.60373	P	0.174737	0.17271	N	0.584674	0.999999	0.58761	D	1.58	0.39772	L	1.4	0.33630	T	-0.71	0.20576	N	0.624	0.63883	-1.0279	0.21136	T	0.112	0.40191	T	10	0.33973306	0.51055	T	0.015597	0.36422	T	0.237	0.54074	.	.	0.369524611565	0.36568	0.26414039426416586	0.26327	0.786750793736	0.65562	0.590794861317	0.51606	T	0.098045	0.40147	T	-0.307131	0.08003	T	-0.364691	0.37509	T	0.0826741751786548	0.10326	T	0.873813	0.58316	D	0.11867253	0.27955	0.108621575	0.26168	0.11867253	0.27955	0.108621575	0.26167	-6.877	0.53233	T	.	.	0.327	0.62689	B	.;.	.;.	4.569479	0.72080	25.8	0.99848265217889987	0.92750	0.95859	0.66460	D	AEFGBCI	0.941325	0.94446	D	0.525831411169122	0.68622	5.242633	0.53476174728665	0.70343	5.491468	0.999999999999597	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.631631	0.49550	0	.	.	5.07	5.07	0.68106	7.975000	0.87664	7.899000	0.73451	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	14.884	0.70191	612	0.66786	Pointed domain|Pointed domain|Pointed 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	.	.	.	.	.	.	.	.	0.05	801.43	36	chr6	34544029	.	T	C	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.577;DP=404;ExcessHet=0;FS=0.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.273;SOR=0.593	GT:AD:DP:GQ:PL	0/1:50,39:89:99:813,0,1232	9	0	1	0
chr6	35805713	35805713	C	T	exonic	LHFPL5	.	nonsynonymous SNV	LHFPL5:NM_182548:exon1:c.C43T:p.H15Y	Deafness, autosomal recessive 67, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	229480	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_67	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012460,MedGen:C1853223,OMIM:610265,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.782	0.109857085369	0.0008	0.00219649	0.0006	0.0012	0.0019	0	0	0.0005	0	0.0002	0.0005951	92	154602	rs149941106	0.0004	0.0004	0.0004	0.0004	0.0029	0.0004	0.0004	0.0019	0.0017	0.0012	0.0022	0.0001	2.519e-05	0	0.0029	0.0003	0.0006	0.0001	0.0009	0.0009	0.0010	0.0008	0.0024	0.0008	0.0007	0.0017	0.0015	0.0018	0	0.0024	0	0	0	0.0034	0.0004	0.0014	0	0.067	0.35918	T	0.004	0.74150	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	N	0.043666	1	0.81001	D	.	.	.	-1.13	0.77719	T	-3.16	0.64246	D	0.89	0.88909	0.215	0.86162	D	0.590	0.85342	D	10	0.045241386	0.03571	T	0.109857	0.78700	D	0.782	0.92746	.	.	0.629593947353	0.62656	.	.	1.10494106084	0.77866	0.911390304565	0.97600	D	0.546313	0.84557	D	-0.0184351	0.49077	T	0.194885	0.82847	D	0.031123512735974	0.02166	T	0.957304	0.83911	D	0.39673236	0.60505	0.4184864	0.65870	0.39673236	0.60505	0.4184864	0.65870	-8.443	0.64051	D	.	.	0.423	0.60836	A	.;.	.;.	4.886039	0.80171	27.3	0.99809163793382527	0.89353	0.91931	0.54574	D	AEFDBHCI	0.946142	0.95527	D	0.813095889915728	0.86918	9.042199	0.787520777740661	0.88911	9.764204	0.999999999996011	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	7.828000	0.84883	7.705000	0.66497	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.040	0.92974	485	0.77085	.;.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2021.43	38	chr6	35805713	.	C	T	2021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.661;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.789;SOR=0.656	GT:AD:DP:GQ:PL	0/1:86,84:170:99:2033,0,2184	9	0	1	0
chr6	43048336	43048336	G	C	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon8:c.C2155G:p.L719V,CUL7:NM_001374872:exon8:c.C2155G:p.L719V,CUL7:NM_001374873:exon8:c.C2059G:p.L687V,CUL7:NM_001374874:exon8:c.C2059G:p.L687V,CUL7:NM_014780:exon8:c.C2059G:p.L687V	3-M syndrome 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0525966765396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.993	0.65571	D	0.93	0.66466	D	0.956720	0.07691	N	1.017660	0.750286	0.29645	N	3.07	0.87108	M	-0.36	0.68754	T	-2.0	0.46146	N	0.469	0.50508	-0.6308	0.63537	T	0.322	0.69064	T	10	0.62080073	0.67966	D	0.052597	0.65133	D	0.405	0.71791	0.523	0.62668	0.751722793294	0.74947	0.45029409834330875	0.44947	0.439492444205	0.43977	0.398827075958	0.24905	T	0.395761	0.75456	T	0.146328	0.68923	D	-0.0275865	0.68528	D	0.856377840042114	0.50724	D	0.815518	0.47040	T	0.12674294	0.29678	0.14479244	0.34363	0.12674294	0.29677	0.14479244	0.34362	-7.768	0.59478	D	0.2988888718162691	0.39611	0.226	0.48654	B	.;.	.;.	5.163013	0.86510	28.9	0.99681348515400103	0.79307	0.88809	0.48918	D	AEFDBI	0.123821	0.23960	N	0.297221915386605	0.56008	3.764964	0.181723109436791	0.48846	3.095172	0.997211630241908	0.35382	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.89	3.99	0.45527	1.567000	0.36016	3.375000	0.37961	0.672000	0.70159	0.963000	0.33788	1.000000	0.68203	0.037000	0.13953	0.211:0.0:0.789:0.0	7.235	0.25236	192	0.92531	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1542.43	33	chr6	43048336	.	G	C	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.365;DP=457;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.18;SOR=0.815	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1554,0,1927	9	0	1	0
chr6	46693800	46693800	T	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.T5672A:p.F1891Y,TDRD6:NM_001168359:exon1:c.T5672A:p.F1891Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591174788198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.27663	T	0.392	0.15406	T	0.068	0.23728	B	0.022	0.19653	B	0.347650	0.13865	N	0.685780	1	0.08975	N	1.83	0.48079	L	2.45	0.15028	T	-0.22	0.14193	N	0.305	0.34444	-0.9670	0.37814	T	0.010	0.03856	T	10	0.1196104	0.22639	T	0.005912	0.15400	T	0.017	0.02790	0.224	0.14813	0.165133752707	0.16062	0.07551206283403537	0.07487	0.0340853469794	0.03576	0.35917288065	0.19265	T	0.059704	0.31187	T	-0.252864	0.13749	T	-0.600998	0.12728	T	0.103203538416875	0.12705	T	0.354665	0.08016	T	0.09262234	0.21733	0.065356	0.13236	0.09262234	0.21733	0.065356	0.13235	-3.024	0.10442	T	.	.	0.115	0.23113	B	.;.	.;.	0.848644	0.12204	8.752	0.74798612695432098	0.10831	0.06308	0.12304	N	AEFBI	0.076371	0.15361	N	-0.809314003921284	0.13072	0.6414339	-0.83202314967899	0.13720	0.7132965	2.61253299416941E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.17	2.58	0.30011	0.146000	0.16000	0.622000	0.20140	0.665000	0.62972	0.000000	0.06391	0.021000	0.20819	0.006000	0.07323	0.1699:0.0914:0.1774:0.5613	1.740	0.02772	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	738.43	49	chr6	46693800	.	T	A	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.898;DP=518;ExcessHet=0;FS=6.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.099;SOR=0.272	GT:AD:DP:GQ:PL	0/1:47,32:79:99:750,0,1374	9	0	1	0
chr6	46835536	46835536	A	G	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.A2071G:p.M691V	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0622692919711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0056	0.0003	0.0007	0.0011	0.0005	0.0005	0.0005	0.0005	2.993e-05	0.0001	0.0002	5.043e-05	0.0002	0.0011	0.0006	0.0005	0.0003	0	3.94e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.34444	T	0.187	0.28764	T	0.125	0.33788	B	0.091	0.32546	B	0.000016	0.62929	D	0.203816	0.975169	0.25449	N	1.87	0.49600	L	-3.03	0.92307	D	-1.07	0.27876	N	0.185	0.26717	-0.4261	0.71193	T	0.455	0.78749	T	10	0.21792597	0.38419	T	0.062269	0.68600	D	0.291	0.61040	0.584	0.71118	0.823458674668	0.82179	0.7900992211295702	0.78961	0.107214159071	0.12103	0.336288750172	0.15882	T	0.442873	0.78687	T	0.0678163	0.60581	T	-0.140363	0.60086	T	0.520824491977692	0.33396	D	0.627137	0.50934	T	0.19448751	0.41201	0.27899867	0.53864	0.19448751	0.41201	0.27899867	0.53863	-3.831	0.21268	T	.	.	0.088	0.22644	B	.;.	.;.	2.069891	0.26324	17.08	0.96692755762507698	0.30745	0.82209	0.41472	D	AEFBI	0.297309	0.40692	N	-0.0370963294573589	0.40182	2.381876	0.118588714283827	0.45501	2.812055	0.00888613874092547	0.11759	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	2.463000	0.44715	3.899000	0.40339	0.756000	0.94297	0.952000	0.33172	0.996000	0.32793	0.966000	0.53164	0.9283:0.0:0.0717:0.0	11.103	0.47407	618	0.66225	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	53.43	69	chr6	46835536	.	A	G	53.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.87;DP=603;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.93;MQRankSum=-11.25;QD=0.42;ReadPosRankSum=2.59;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,10:128:65:0|1:46835536_A_G:65,0,4789:46835536	9	0	1	0
chr6	46835540	46835540	C	T	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.C2075T:p.A692V	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.100712992318	.	.	1.819e-05	0	0	0	0	3.266e-05	0	0	1.29e-05	2	154602	rs752666180	0.0004	0.0054	0.0002	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	2.994e-05	0.0001	0.0002	0	0.0002	0.0007	0.0005	0.0004	0.0002	0	3.94e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.28395	T	0.145	0.33000	T	0.156	0.35556	B	0.044	0.26930	B	0.000005	0.62929	N	0.141041	0.999982	0.54805	D	1.9	0.50570	L	-3.01	0.92208	D	-2.02	0.46503	N	0.138	0.22098	0.203	0.85965	D	0.597	0.85644	D	10	0.27351117	0.44900	T	0.100713	0.77317	D	0.439	0.74306	0.534	0.64293	0.908269610529	0.90734	0.6772577259841215	0.67664	0.156741707563	0.17697	0.430263519287	0.29244	T	0.423688	0.77436	T	-0.0573178	0.43327	T	-0.186948	0.55874	T	0.650432288646698	0.38480	D	0.79652	0.44001	T	0.13584134	0.31512	0.15856257	0.37023	0.13584134	0.31512	0.15856257	0.37022	-8.302	0.63109	D	.	.	0.161	0.45714	B	.;.	.;.	3.382921	0.46799	22.4	0.99338909696343514	0.60091	0.91834	0.54363	D	AEFBI	0.308494	0.41506	N	0.120843183490676	0.47435	2.969323	0.213030262746499	0.50571	3.247619	0.00428758683802346	0.10487	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	5.72	4.86	0.62624	2.866000	0.48119	1.701000	0.28132	0.599000	0.40250	0.990000	0.36992	0.920000	0.28304	0.947000	0.49155	0.0:0.8594:0.0:0.1406	11.820	0.51508	618	0.66225	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	56.43	69	chr6	46835540	.	C	T	56.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.525;DP=600;ExcessHet=0;FS=1.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.91;MQRankSum=-11.21;QD=0.44;ReadPosRankSum=2.21;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,10:127:68:0|1:46835536_A_G:68,0,4776:46835536	9	0	1	0
chr6	46835544	46835544	C	G	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.C2079G:p.S693R	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.206163540757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0052	0.0001	0.0004	0.0007	0.0002	0.0002	0.0003	0.0003	2.994e-05	8.986e-05	0.0002	0	0.0002	0.0007	0.0003	0.0002	0.0002	0	3.283e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.012	0.67890	D	0.999	0.90584	D	0.973	0.77976	D	0.000018	0.62929	D	0.182125	0.999993	0.58761	D	1.905	0.50856	L	-3.02	0.92258	D	-1.7	0.40468	N	0.775	0.77226	0.646	0.92495	D	0.765	0.91988	D	10	0.87510014	0.86796	D	0.206164	0.87024	D	0.764	0.92004	0.681	0.81885	0.946697683218	0.94613	0.8905241181353148	0.89022	0.539362224529	0.51165	0.46334451437	0.33769	T	0.549499	0.84720	D	0.277044	0.81062	D	0.160178	0.80818	D	0.955119550228119	0.64428	D	0.863714	0.57479	D	0.30423823	0.53282	0.30467337	0.56495	0.30423823	0.53282	0.30467337	0.56494	-5.083	0.37727	T	.	.	0.647	0.78398	P	.;.	.;.	4.192120	0.63195	24.5	0.99841425907483405	0.92143	0.91478	0.53616	D	AEFBI	0.502391	0.53483	D	0.516204725716185	0.68047	5.163811	0.4949159250942	0.67652	5.112823	9.83085134245952E-4	0.08091	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	5.72	4.85	0.62375	1.827000	0.38740	3.853000	0.40098	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.8542:0.0:0.1458	10.606	0.44584	618	0.66225	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	77.43	69	chr6	46835544	.	C	G	77.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.248;DP=593;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.84;MQRankSum=-10.89;QD=0.65;ReadPosRankSum=1.4;SOR=0.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,10:120:89:0|1:46835536_A_G:89,0,4548:46835536	9	0	1	0
chr6	65495077	65495077	C	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon3:c.G334A:p.V112I,EYS:NM_001142800:exon4:c.G334A:p.V112I,EYS:NM_001142801:exon4:c.G334A:p.V112I,EYS:NM_001292009:exon4:c.G334A:p.V112I	Retinitis pigmentosa 25	0	1422	93	7	0	107	0.0362589	.	.	.	140963	Retinitis_pigmentosa_25|not_provided|Retinitis_pigmentosa|not_specified	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.191	.	0.0041	0.00858626	0.0086	0.0012	0.0048	0.0005	0.0002	0.0065	0.0110	0.0323	0.0077425	1197	154602	rs112609906	0.0053	0.0053	0.0043	0.0063	0.0337	0.0052	0.0052	0.0327	0.0323	0.0009	0.0055	0.0626	0.0002	5.617e-05	0.0284	0.0020	0.0098	0.0337	0.0058	0.0058	0.0048	0.0068	0.0385	0.0055	0.0053	0.0340	0.0322	0.0007	0	0.0153	0.0637	0.0006	9.427e-05	0.0102	0.0027	0.0095	0.0385	1.0	0.00964	T	0.537	0.09863	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.08975	N	-0.975	0.01213	N	-1.54	0.89496	D	-0.16	0.09460	N	0.055	0.02658	-0.9262	0.44688	T	0.165	0.50258	T	9	0.0017894804	0.00023	T	.	.	.	0.191	0.46948	.	.	0.235664433957	0.23186	0.0246454282245008	0.02415	0.00995304507162	0.00909	0.290867894888	0.09049	T	0.037376	0.24453	T	-0.524892	0.00412	T	-0.503062	0.22032	T	0.00452867321037456	0.00048	T	0.430857	0.11714	T	0.019045109	0.00429	0.029319579	0.01257	0.018142622	0.00335	0.022801036	0.00298	-2.302	0.04835	T	0.02652903951531157	0.00038	0.055	0.00681	B	.;.;.;.	.;.;.;.	0.719570	0.10887	7.559	0.48228472243111892	0.04007	0.18982	0.20480	N	AEFCI	0.057285	0.10659	N	-0.778460120555386	0.13872	0.6866326	-0.610487569943459	0.19223	1.030442	1.30256985872255E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	0.626	0.16843	1.444000	0.34679	1.206000	0.24872	-0.172000	0.11096	1.000000	0.71638	0.929000	0.28499	0.587000	0.31065	0.1537:0.0872:0.16:0.5991	2.280	0.03859	916	0.20744	.;.;.;.	.	.	.	.	.	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	0.023666	0.015152	0.025815	0.020468	0.050000	0.008621	0.018293	0.045455	0.1	4349.14	33	chr6	65495077	.	C	T	4349.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.17;DP=577;ExcessHet=0.2348;FS=1.972;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.758;SOR=0.817	GT:AD:DP:GQ:PL	0/1:60,72:132:99:1951,0,1525	8	0	2	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	.	.	.	.	.	.	.	.	0.1	124.02	63	chr6	73518506	.	C	T	124.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.353;DP=477;ExcessHet=0.2348;FS=2;InbreedingCoeff=-0.1027;MLEAC=1;MLEAF=0.05;MQ=46.99;MQRankSum=-2.054;QD=1.05;ReadPosRankSum=1.16;SOR=0.481	GT:AD:DP:GQ:PL	0/1:43,12:55:99:132,0,1233	8	0	2	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q,CEP162:NM_014895:exon17:c.G2231A:p.R744Q	.	586	928	7	1	0	9	0.00482574	.	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.017241	0.006098	0.003788	0.05	592.43	33	chr6	84171654	.	C	T	592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.905;DP=376;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.525;SOR=0.639	GT:AD:DP:GQ:PL	0/1:41,29:70:99:604,0,881	9	0	1	0
chr6	107909011	107909011	G	A	exonic	SEC63	.	nonsynonymous SNV	SEC63:NM_007214:exon8:c.C649T:p.R217C	Polycystic liver disease 2, Autosomal dominant	11	1510	1	0	0	1	0.000331016	.	.	.	2904835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.817	0.224354725182	.	.	5.029e-05	0	8.835e-05	0	0	4.572e-05	0	0.0001	5.17e-05	8	154602	rs565194589	3.699e-05	3.762e-05	2.181e-05	5.231e-05	0.0002	2.897e-05	2.595e-05	9.795e-05	7.842e-05	0	4.475e-05	0	2.521e-05	0	0	3.152e-05	3.316e-05	0.0002	4.614e-05	4.6e-05	2.575e-05	6.753e-05	8.832e-05	2.115e-05	1.531e-05	3.766e-05	2.578e-05	0	0	0	0	0	9.471e-05	0	8.832e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.97	0.72226	D	0.000003	0.62929	D	0.061273	1	0.81001	D	2.375	0.68372	M	-1.04	0.76561	T	-6.19	0.91311	D	0.955	0.96416	0.193	0.85786	D	0.559	0.83915	D	10	0.8794205	0.87246	D	0.224355	0.87946	D	0.817	0.94123	0.618	0.75232	0.91364387659	0.91277	0.860820767975889	0.86046	1.16178190297	0.79509	0.876591444016	0.93498	D	0.35793	0.72456	T	0.237582	0.77431	D	0.340162	0.89925	D	0.890066504478455	0.54084	D	0.986301	0.96221	D	0.72060984	0.79195	0.5377637	0.73288	0.7173761	0.79017	0.53171307	0.72941	-9.806	0.72742	D	.	.	0.664	0.71493	P	.;.	.;.	6.078565	0.94508	34	0.99926420297468665	0.99103	0.98099	0.79589	D	AEFBI	0.930534	0.91799	D	0.761786727214941	0.83669	8.078658	0.741968909211323	0.85556	8.615865	0.998907995045685	0.37938	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	7.662000	0.82787	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.546	0.90999	757	0.50970	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	632.43	35	chr6	107909011	.	G	A	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=391;ExcessHet=0;FS=0.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.35;SOR=0.854	GT:AD:DP:GQ:PL	0/1:43,29:72:99:644,0,982	9	0	1	0
chr6	122783744	122783744	G	A	exonic	FABP7	.	nonsynonymous SNV	FABP7:NM_001319042:exon4:c.G364A:p.V122I,FABP7:NM_001446:exon4:c.G376A:p.V126I	.	420	1096	5	1	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0154215191171	.	0.000399361	9.062e-05	0	0	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs77153426	6.322e-05	6.362e-05	5.195e-05	7.461e-05	0.0005	5.252e-05	4.868e-05	0.0001	8.819e-05	0	2.328e-05	0	0	0	0.0005	6.396e-05	3.324e-05	0.0002	7.223e-05	7.875e-05	5.141e-05	9.4e-05	0.0006	3.969e-05	3.126e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.062	0.36912	T	0.189	0.28575	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	0.999971	0.53665	D	1.57	0.39626	L	3.06	0.08634	T	-0.62	0.18248	N	0.175	0.18784	-1.0414	0.16890	T	0.011	0.03903	T	9	0.14036414	0.26682	T	0.015422	0.36141	T	0.103	0.29403	0.549	0.66436	0.392855499163	0.38900	.	.	0.16724287449	0.18862	0.270776748657	0.06243	T	0.086488	0.37736	T	-0.382068	0.03024	T	-0.522163	0.20075	T	0.0692095382658023	0.08541	T	0.818818	0.47619	T	0.2120358	0.43545	0.23689161	0.48972	0.2120358	0.43544	0.23689161	0.48971	-4.523	0.31188	T	.	.	0.079	0.07177	B	.	.	2.278303	0.29126	18.02	0.98705368100683655	0.44967	0.91819	0.54331	D	AEFDBCI	0.704641	0.66029	D	-0.0996626492339732	0.37407	2.17588	0.0556642698724249	0.42346	2.559725	0.999991937297232	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.4	3.59	0.40253	4.543000	0.60395	2.841000	0.35080	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.143:0.0:0.857:0.0	11.852	0.51693	539	0.73055	Lipocalin/cytosolic fatty-acid binding domain|Cytosolic fatty-acid binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	915.43	37	chr6	122783744	.	G	A	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.034;DP=408;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.716;SOR=0.968	GT:AD:DP:GQ:PL	0/1:48,43:91:99:927,0,1074	9	0	1	0
chr6	134942426	134942426	C	T	exonic	ALDH8A1	.	nonsynonymous SNV	ALDH8A1:NM_001193480:exon3:c.G425A:p.R142Q,ALDH8A1:NM_022568:exon3:c.G425A:p.R142Q,ALDH8A1:NM_170771:exon3:c.G425A:p.R142Q	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.0620562172554	.	.	2.493e-05	0	8.642e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs755263036	2.738e-05	2.805e-05	1.77e-05	3.716e-05	0.0002	2.064e-05	1.817e-05	0.0001	9.462e-05	0	0.0002	0	0	0	0	1.17e-05	1.657e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	5.287e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.022	0.49613	D	0.007	0.72224	D	0.998	0.73220	D	0.826	0.59373	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.595	0.75868	M	-1.3	0.79571	T	-3.22	0.64939	D	0.935	0.94077	0.016	0.82576	D	0.515	0.81840	D	10	0.9572629	0.95099	D	0.062056	0.68530	D	0.510	0.78971	0.754	0.88402	0.714550520427	0.71205	0.9330387993663011	0.93282	0.472014145769	0.46445	0.462828427553	0.33699	T	0.503767	0.82312	D	-0.0356227	0.46597	T	0.00320278	0.70545	D	0.530574598382837	0.33755	D	0.923508	0.72088	D	0.55277526	0.70110	0.3752517	0.62673	0.55277526	0.70111	0.3752517	0.62673	-8.96	0.67439	D	.	.	0.239	0.47261	B	.;.;.	.;.;.	4.282128	0.65240	24.8	0.9979585171335793	0.88106	0.98567	0.84178	D	AEFDI	0.925609	0.90544	D	0.175893626827635	0.50044	3.198247	0.0554069266244973	0.42333	2.558757	0.999922180828423	0.46280	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	4.46	0.53567	7.858000	0.85341	3.273000	0.37174	-0.176000	0.10722	1.000000	0.71638	0.997000	0.33255	0.016000	0.10718	0.0:0.9266:0.0:0.0734	13.925	0.63464	879	0.29470	Aldehyde dehydrogenase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1029.43	34	chr6	134942426	.	C	T	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3;DP=408;ExcessHet=0;FS=0.829;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.354;SOR=0.84	GT:AD:DP:GQ:PL	0/1:53,38:91:99:1041,0,1305	9	0	1	0
chr6	136421738	136421738	A	C	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198608:exon2:c.T195G:p.I65M,MAP7:NM_001198609:exon2:c.T195G:p.I65M,MAP7:NM_001198611:exon2:c.T195G:p.I65M,MAP7:NM_001198615:exon2:c.T84G:p.I28M,MAP7:NM_001198616:exon2:c.T129G:p.I43M,MAP7:NM_001198617:exon2:c.T129G:p.I43M,MAP7:NM_003980:exon2:c.T129G:p.I43M,MAP7:NM_001198614:exon3:c.T195G:p.I65M	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00441954045039	0.0002	0.000399361	0.0004	0	0	0	0.0002	0.0002	0	0.0023	0.0003687	57	154602	rs371519444	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0016	0	0.0001	0	0	0.0001	0.0014	7.824e-05	0.0001	0.0020	9.188e-05	9.186e-05	0.0001	8.052e-05	0.0012	5.521e-05	4.36e-05	0.0005	0.0004	0	0	0.0001	0	0	9.414e-05	0	7.349e-05	0	0.0012	0.12	0.27904	T	0.116	0.37730	T	0.372	0.34134	B	0.32	0.41729	B	0.397606	0.04515	N	1.405070	0.969944	0.38763	D	1.61	0.41143	L	2.57	0.13552	T	0.1	0.11728	N	0.169	0.30118	-1.0070	0.27850	T	0.015	0.06138	T	10	0.010475606	0.00233	T	0.00442	0.10812	T	0.055	0.15663	.	.	0.260580752073	0.25663	0.085169854555567	0.08450	0.20250170241	0.22669	0.328710347414	0.14739	T	0.01482	0.32637	T	-0.636435	0.00087	T	-0.693447	0.06192	T	0.0286516948651623	0.01784	T	0.823018	0.52486	T	0.044126198	0.07000	0.04996262	0.07742	0.044126198	0.07000	0.04996262	0.07742	-4.25	0.32830	T	.	.	0.095	0.16275	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.312804	0.29604	18.18	0.8920844573909591	0.18601	0.65159	0.32645	D	AEFDBHCIJ	0.233949	0.35679	N	-0.33652129424532	0.27770	1.526324	-0.270172650537408	0.29087	1.626802	0.999998797032947	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.63	3.19	0.35720	2.981000	0.49019	3.467000	0.38554	0.756000	0.94297	0.986000	0.36153	0.962000	0.29361	0.900000	0.43643	0.745:0.1684:0.0866:0.0	5.804	0.17693	709	0.56835	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	686.43	36	chr6	136421738	.	A	C	686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.823;DP=394;ExcessHet=0;FS=1.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-2.303;SOR=0.67	GT:AD:DP:GQ:PL	0/1:44,34:78:99:698,0,1024	9	0	1	0
chr6	142415911	142415911	C	T	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon19:c.C2701T:p.L901F,ADGRG6:NM_001032395:exon19:c.C2701T:p.L901F,ADGRG6:NM_020455:exon20:c.C2785T:p.L929F,ADGRG6:NM_198569:exon20:c.C2785T:p.L929F	Lethal congenital contracture syndrome 9, Autosomal recessive	429	1063	28	2	0	32	0.0148285	.	.	.	710216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.382	.	0.0013	0.00439297	0.0030	0.0001	0.0015	0	0	0.0022	0.0078	0.0116	0.0028525	441	154602	rs186655757	0.0020	0.0020	0.0017	0.0023	0.0127	0.0019	0.0019	0.0103	0.0098	0.0004	0.0020	0.0002	0	0.0002	0.0127	0.0014	0.0028	0.0106	0.0019	0.0019	0.0015	0.0023	0.0110	0.0017	0.0016	0.0086	0.0078	0.0003	0.0011	0.0054	0.0006	0	9.429e-05	0.0068	0.0017	0.0066	0.0110	0.038	0.44029	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.07	0.39586	T	-3.71	0.70674	D	0.491	0.53006	-0.6123	0.64308	T	0.251	0.62108	T	10	0.020136267	0.00459	T	.	.	.	0.382	0.69946	.	.	0.439551795455	0.43578	0.6790257753278311	0.67841	0.582222379871	0.53986	0.513044834137	0.40648	T	0.371903	0.73618	T	-0.105586	0.35500	T	0.0849509	0.75908	D	0.0733345355968421	0.09111	T	0.79622	0.44234	T	0.23291788	0.46088	0.26195386	0.51980	0.2693197	0.50004	0.29664806	0.55697	-7.675	0.59049	D	.	.	0.202	0.42606	B	.;.;.;.	.;.;.;.	2.723302	0.35625	19.95	0.99877375110024558	0.95410	0.97492	0.75099	D	AEFBI	0.851761	0.76863	D	0.64390101101507	0.75975	6.401847	0.553391529432174	0.71634	5.684729	1.0	0.98316	0.730579	0.87903	0	0.573888	0.26702	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	3.889000	0.55925	2.715000	0.34266	-0.175000	0.10903	0.998000	0.41325	0.993000	0.31925	0.229000	0.22707	0.0:1.0:0.0:0.0	19.524	0.95191	720	0.55521	GPCR, family 2-like;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.017663	0.008772	0.000000	0.000000	0.042683	0.007576	0.05	1602.43	38	chr6	142415911	.	C	T	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.357;DP=442;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.22;SOR=0.501	GT:AD:DP:GQ:PL	0/1:57,72:129:99:1614,0,1227	9	0	1	0
chr6	144514815	144514815	G	A	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon36:c.G5239A:p.A1747T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.014112573537	.	.	8.324e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs775244898	2.603e-05	2.599e-05	1.772e-05	3.443e-05	0.0003	1.935e-05	1.695e-05	6.123e-05	2.533e-05	0	0	0.0010	0	0	0.0003	7.198e-06	1.658e-05	0	3.943e-05	3.94e-05	3.854e-05	4.036e-05	2.94e-05	1.716e-05	1.13e-05	4.88e-06	1.83e-06	0	0	0	0.0012	0	0	0	2.94e-05	0	0	0.013	0.53900	D	.	.	.	0.964	0.55854	D	0.817	0.58928	P	0.000362	0.45194	D	0.000000	0.933552	0.37058	D	2.52	0.73523	M	0.16	0.60610	T	-0.77	0.21429	N	0.32	0.36043	-0.6335	0.63422	T	0.221	0.58383	T	10	0.19010684	0.34639	T	0.014113	0.34004	T	0.173	0.43840	0.37	0.38013	0.549036597592	0.54559	0.4053724743957222	0.40453	0.292689891188	0.31689	0.513841986656	0.40759	T	0.167088	0.51358	T	-0.0212161	0.48680	T	-0.204606	0.54210	T	0.471565127372742	0.31588	T	0.825317	0.48765	T	0.10239075	0.24195	0.12909526	0.31046	0.10239075	0.24194	0.12909526	0.31046	-5.103	0.37939	T	.	.	0.130	0.27821	B	.	.	4.141901	0.62066	24.4	0.99899060896598513	0.97124	0.97075	0.72544	D	AEFBI	0.489727	0.52751	N	0.530752076564026	0.68919	5.283776	0.506589459097731	0.68434	5.219289	0.833066850525128	0.24728	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	4.44	0.53164	5.028000	0.63895	3.844000	0.40055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.7229:0.2771	13.880	0.63177	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	350.43	35	chr6	144514815	.	G	A	350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.676;DP=349;ExcessHet=0;FS=6.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.703;SOR=0.111	GT:AD:DP:GQ:PL	0/1:16,17:33:99:362,0,506	9	0	1	0
chr6	152390293	152390293	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon53:c.G8185A:p.V2729I,SYNE1:NM_182961:exon53:c.G8164A:p.V2722I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	2	1505	15	0	0	15	0.00495868	.	.	.	195116	not_specified|SYNE1-related_disorder|not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0072	0.00319489	0.0063	0.0014	0.0016	0.0001	0.0111	0.0090	0.0033	0.0035	0.0062224	962	154602	rs151091241	0.0075	0.0075	0.0074	0.0076	0.0083	0.0074	0.0073	0.0081	0.0081	0.0012	0.0017	0.0111	0.0002	0.0104	0.0063	0.0083	0.0064	0.0039	0.0067	0.0067	0.0069	0.0064	0.0097	0.0063	0.0062	0.0091	0.0088	0.0019	0.0285	0.0040	0.0127	0	0.0116	0.0034	0.0097	0.0057	0.0031	0.533	0.06957	T	0.141	0.33780	T	0.001	0.07471	B	0.001	0.04355	B	0.406975	0.04568	N	1.358490	1	0.08975	N	0.975	0.24501	L	1.36	0.34452	T	0.09	0.06253	N	0.118	0.10769	-1.0545	0.13172	T	0.023	0.09832	T	10	0.0038227737	0.00072	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.024331021736669012	0.02384	0.106343627862	0.12022	0.233329594135	0.02224	T	0.120855	0.44340	T	-0.681705	0.00047	T	-0.742604	0.03782	T	0.00260534037458298	0.00027	T	0.268673	0.04486	T	0.018339487	0.00355	0.02465878	0.00489	0.016190654	0.00182	0.026594866	0.00757	-3.85	0.21553	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	-1.343160	0.00403	0.008	0.68992732397319667	0.08831	0.01856	0.05735	N	AEFI	0.081305	0.16450	N	-1.58915516320912	0.01319	0.05746705	-1.70972514132429	0.01095	0.04919225	0.999999974319441	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	-12.3	0.00001	-0.705000	0.05154	-14.321000	0.00410	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.0662:0.2809:0.1314:0.5215	7.246	0.25296	863	0.32847	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	2633.14	39	chr6	152390293	.	C	T	2633.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.364;DP=497;ExcessHet=0.2348;FS=1.198;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.76;SOR=0.798	GT:AD:DP:GQ:PL	0/1:33,55:88:99:1414,0,734	8	0	2	0
chr6	154039729	154039729	-	CGG	exonic	OPRM1	.	nonframeshift insertion	OPRM1:NM_000914:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008503:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008504:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008505:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145282:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145283:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145284:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145285:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145286:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285522:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285523:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285524:exon2:c.464_465insCGG:p.G156_S157insG,OPRM1:NM_001145279:exon3:c.464_465insCGG:p.G156_S157insG	.	423	1079	20	0	0	20	0.00918274	.	.	.	2820830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0042	0.00259585	0.0074	0.0012	0.0019	0	0.0070	0.0096	0.0079	0.0095	0.0043031	112	26028	rs576853670	0.0068	0.0068	0.0067	0.0069	0.0097	0.0067	0.0066	0.0091	0.0089	0.0010	0.0028	0.0037	2.519e-05	0.0063	0.0064	0.0073	0.0063	0.0097	0.0051	0.0051	0.0054	0.0049	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0011	0.0042	0.0060	0	0.0043	0.0068	0.0079	0.0057	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.015244	0.003788	0.15	6911.39	38	chr6	154039729	.	C	CCGG	6911.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.922;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=31.42;ReadPosRankSum=1.19;SOR=0.739	GT:AD:DP:GQ:PL	0/1:58,57:115:99:2213,0,2256	8	1	1	0
chr6	156777818	156777818	-	GCG	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.138_139insGCG:p.A53_P54insA,ARID1B:NM_001374828:exon1:c.138_139insGCG:p.A53_P54insA,ARID1B:NM_017519:exon1:c.138_139insGCG:p.A53_P54insA,ARID1B:NM_001371656:exon2:c.138_139insGCG:p.A53_P54insA	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2744010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1357725716	0.0013	0.0009	0.0013	0.0013	0.0029	0.0012	0.0012	0.0022	0.0020	0.0018	0.0009	0	0.0010	0.0002	0.0005	0.0013	0.0011	0.0029	0.0019	0.0018	0.0019	0.0018	0.0028	0.0017	0.0016	0.0024	0.0022	0.0028	0.0092	0.0011	0.0003	0.0017	0.0004	0	0.0016	0.0015	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	382.77	5	chr6	156777818	.	C	CGCG	382.77	.	AC=2;AF=0.1;AN=20;DP=88;ExcessHet=0;FS=0;InbreedingCoeff=0.8151;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.7;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,9:9:27:405,27,0	9	1	0	0
chr6	159226563	159226563	C	T	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon9:c.C1163T:p.T388I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0343761035615	.	0.000199681	0.0001	0	0	0	0	2.453e-05	0	0.0009	7.76e-05	12	154602	rs538489902	3.301e-05	3.352e-05	9.565e-06	5.676e-05	0.0005	2.557e-05	2.261e-05	0.0004	0.0004	0	0	0	0	0	0.0003	9.024e-07	0	0.0005	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.009	0.57480	D	0.006	0.70582	D	0.984	0.60733	D	0.899	0.63802	P	0.001493	0.38855	N	0.255444	0.999927	0.19486	N	0.91	0.23283	L	0.42	0.56937	T	-2.67	0.57110	D	0.173	0.18512	-0.8350	0.52976	T	0.212	0.57281	T	10	0.0914509	0.16020	T	0.034376	0.55635	D	0.230	0.53062	0.652	0.78963	0.814594976307	0.81285	0.21536124191375183	0.21452	0.173858297058	0.19575	0.500278711319	0.38867	T	0.028138	0.20449	T	-0.377744	0.03219	T	-0.405735	0.32717	T	0.335910052061081	0.26461	T	0.808019	0.45805	T	0.23265228	0.46057	0.23494193	0.48724	0.23265228	0.46057	0.23494193	0.48723	-7.628	0.58506	D	.	.	0.425	0.60952	A	.	.	4.306277	0.65796	24.9	0.99711884193330369	0.81423	0.82112	0.41391	D	AEFBI	0.606397	0.59675	D	0.530912350388553	0.68929	5.285149	0.467534414560443	0.65851	4.876225	0.967471661337065	0.28980	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	5.481000	0.66549	7.609000	0.61840	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.666000	0.33137	0.0:0.8194:0.1806:0.0	15.222	0.73004	802	0.44336	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	.	.	.	.	.	.	.	.	0.05	1089.43	34	chr6	159226563	.	C	T	1089.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.469;DP=417;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.323;SOR=0.548	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1101,0,1118	9	0	1	0
chr6	159907589	159907589	G	A	exonic	MAS1	.	nonsynonymous SNV	MAS1:NM_001366704:exon2:c.G634A:p.V212M,MAS1:NM_002377:exon3:c.G634A:p.V212M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2361621	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0093310999356	.	0.000599042	0.0002	9.625e-05	0	0	0	2.998e-05	0	0.0013	0.0001811	28	154602	rs528603241	8.277e-05	8.414e-05	4.9e-05	0.0001	0.0010	7.069e-05	6.618e-05	0.0008	0.0007	8.961e-05	0.0001	0	2.519e-05	0	0.0002	1.978e-05	8.279e-05	0.0010	8.548e-05	8.533e-05	7.716e-05	9.418e-05	0.0008	4.961e-05	3.965e-05	0.0003	0.0002	0.0001	0	0.0001	0	0	0	0	1.471e-05	0.0005	0.0008	0.033	0.44358	D	0.095	0.39492	T	0.89	0.48942	P	0.626	0.51600	P	0.767964	0.09570	N	0.862194	1	0.08975	N	2.34	0.67151	M	1.15	0.38236	T	-1.5	0.36586	N	0.083	0.05929	-1.0149	0.25368	T	0.065	0.26948	T	10	0.030115366	0.01138	T	0.009331	0.24483	T	0.127	0.34888	.	.	0.156986980423	0.15292	0.15666381872493276	0.15587	0.355704073165	0.37328	0.333332806826	0.15437	T	0.206315	0.56562	T	-0.521878	0.00429	T	-0.562951	0.16101	T	0.0433704753165312	0.04306	T	0.739826	0.35853	T	0.14549969	0.33351	0.14821912	0.35045	0.14549969	0.33350	0.14821912	0.35045	-5.515	0.42008	T	.	.	0.136	0.29477	B	.	.	1.906727	0.24218	16.31	0.99210666745899645	0.55563	0.05089	0.10887	N	AEFBI	0.025947	0.01862	N	-0.584805320774489	0.19405	1.015368	-0.748448161148502	0.15760	0.8304805	9.98509333655941E-5	0.04910	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.47	-0.664	0.10833	0.126000	0.15597	1.480000	0.26815	-1.580000	0.00921	0.014000	0.18986	0.993000	0.31925	0.073000	0.16832	0.6385:0.0:0.3615:0.0	11.266	0.48345	927	0.17636	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	.	.	.	.	.	.	.	.	0.05	2259.43	38	chr6	159907589	.	G	A	2259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=502;ExcessHet=0;FS=5.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.357;SOR=0.816	GT:AD:DP:GQ:PL	0/1:86,87:173:99:2271,0,2074	9	0	1	0
chr6	160594115	160594115	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon22:c.C3472G:p.P1158A	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0137570227153	.	0.000199681	9.117e-05	0	0	0	0	1.5e-05	0	0.0006	7.76e-05	12	154602	rs544137228	4.037e-05	4.036e-05	1.089e-05	7.014e-05	0.0006	3.179e-05	2.911e-05	0.0005	0.0005	0	0	0	0	0	0.0002	8.995e-07	3.313e-05	0.0006	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.03	0.63077	T	-0.76	0.21215	N	0.276	0.31253	-0.7895	0.55759	T	0.173	0.51627	T	9	0.03520122	0.01759	T	0.013757	0.33405	T	0.147	0.38986	.	.	0.119812018005	0.11559	0.21597434213909278	0.21513	0.253394482153	0.27906	0.286524057388	0.08419	T	.	.	.	-0.343498	0.05149	T	-0.355343	0.38590	T	0.21409527641596	0.21165	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20196	B	.;.	.;.	2.502347	0.32303	19.00	0.98687021955611687	0.44709	0.04215	0.09729	N	AEFI	0.056941	0.10566	N	-0.530534572567914	0.21098	1.117189	-0.723587566935028	0.16373	0.8658818	2.42115869679832E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	2.56	0.29842	0.308000	0.19071	3.475000	0.38608	0.347000	0.19874	0.000000	0.06391	0.931000	0.28545	0.006000	0.07323	0.0:0.0:1.0:0.0	8.614	0.32981	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1661.43	40	chr6	160594115	.	G	C	1661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.772;DP=464;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-2.826;SOR=0.768	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1673,0,1559	9	0	1	0
chr6	160713004	160713004	C	G	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon5:c.C426G:p.H142Q	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3040713	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0423830234574	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs777371711	2.058e-06	2.052e-06	0	4.135e-06	1.801e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	1.663e-05	0	6.566e-06	6.562e-06	1.285e-05	0	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.162	0.33554	T	0.907	0.50062	P	0.619	0.51356	P	0.902334	0.08611	U	0.932048	0.968898	0.38691	D	2.635	0.77114	M	0.04	0.62051	T	-3.7	0.74504	D	0.157	0.16308	-0.6403	0.63133	T	0.206	0.56403	T	10	0.3693383	0.53352	T	0.042383	0.60436	D	0.284	0.60219	0.457	0.52265	0.772125089601	0.77003	0.7307462416161598	0.73019	0.395391962179	0.40679	0.332114875317	0.15254	T	0.267804	0.63987	T	-0.0775468	0.40114	T	-0.349167	0.39300	T	0.616007328033447	0.37043	D	0.665033	0.32156	T	0.45345184	0.64260	0.42835316	0.66551	0.45345184	0.64260	0.42835316	0.66551	-7.635	0.58555	D	.	.	0.302	0.68991	B	.;.	.;.	2.325672	0.29784	18.23	0.94161386039854578	0.24367	0.57826	0.30479	D	AEFBI	0.817374	0.73888	D	-0.361252375775823	0.26861	1.469258	-0.589058051839891	0.19777	1.06267	8.63317098272832E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	-0.54	0.11268	-0.064000	0.11593	0.374000	0.17708	0.519000	0.23678	0.001000	0.13787	0.032000	0.21310	0.213000	0.22268	0.0:0.7206:0.0:0.2794	11.633	0.50448	856	0.34373	Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	869.43	34	chr6	160713004	.	C	G	869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.086;DP=388;ExcessHet=0;FS=2.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.55;MQRankSum=-0.139;QD=10.73;ReadPosRankSum=0.781;SOR=0.428	GT:AD:DP:GQ:PL	0/1:43,38:81:99:881,0,1043	9	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	730.04	69	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	*	730.04	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.41;DP=688;ExcessHet=0.2065;FS=6.271;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=56.81;MQRankSum=-5.977;QD=2.19;ReadPosRankSum=-0.411;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,24:97:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:736,0,2898:167976249	7	1	2	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	1353.59	68	chr6	167976271	.	T	*	1353.59	.	AC=5;AF=0.313;AN=16;BaseQRankSum=2.93;DP=667;ExcessHet=0.7957;FS=1.88;InbreedingCoeff=-0.0311;MLEAC=6;MLEAF=0.375;MQ=55.16;MQRankSum=-4.962;QD=3.35;ReadPosRankSum=-2.838;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,24:97:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:736,0,2898:167976249	4	1	3	2
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	3211.87	73	chr6	167976273	.	A	*	3211.87	.	AC=5;AF=0.313;AN=16;DP=670;ExcessHet=0.218;FS=2.453;InbreedingCoeff=0.2593;MLEAC=6;MLEAF=0.375;MQ=55.05;QD=7.93;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,24:97:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:736,0,2898:167976249	4	1	3	2
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	14892.7	98	chr6	170561964	.	G	*	14892.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=5;MLEAF=0.25;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,32:64:99:1|0:170561949_GCAA_G:3249,1233,1084:170561949	5	0	5	0
chr7	259906	259906	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon10:c.G1681A:p.V561M	Raine syndrome, Autosomal recessive	0	1492	30	0	0	30	0.00995355	.	.	.	190892	not_provided|not_specified|Lethal_osteosclerotic_bone_dysplasia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009821,MedGen:C1850106,OMIM:259775,Orphanet:1832	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.222	.	0.0007	0.0219649	0.0202	0.0013	0.0143	0.0682	0	0.0007	0.0256	0.0367	0.0034282	530	154602	rs145750007	0.0046	0.0044	0.0037	0.0056	0.0720	0.0045	0.0045	0.0697	0.0687	0.0010	0.0003	3.975e-05	0.0720	5.866e-05	0.0072	0.0003	0.0080	0.0372	0.0043	0.0043	0.0033	0.0053	0.0673	0.0040	0.0039	0.0614	0.0592	0.0009	0	0.0015	0	0.0673	0	0.0068	0.0004	0.0043	0.0429	0.069	0.35537	T	0.087	0.40747	T	0.607	0.39488	P	0.254	0.39164	B	.	.	.	.	0.610006	0.32613	D	.	.	.	-1.07	0.76948	T	-1.34	0.33401	N	0.122	0.11340	-0.8742	0.50211	T	0.033	0.14073	T	9	0.0035103261	0.00063	T	.	.	.	0.222	0.51872	.	.	.	.	0.37047289980225623	0.36961	0.951736113899	0.72662	0.487796187401	0.37133	T	0.230689	0.59682	T	-0.443181	0.01239	T	-0.359908	0.38063	T	0.0254470733060737	0.01331	T	0.727827	0.34232	T	0.12167461	0.28608	0.11359529	0.27415	0.12167461	0.28608	0.11359529	0.27414	-7.543	0.57912	D	.	.	0.114	0.22825	B	.	.	1.474687	0.18991	14.03	0.95953911291064109	0.28281	0.55345	0.29841	D	AEFDBI	0.139561	0.26119	N	-0.556700551778978	0.20274	1.067582	-0.595014695052103	0.19622	1.053619	8.44857575494831E-4	0.07902	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.39	-0.54	0.11268	1.508000	0.35376	1.281000	0.25351	-0.259000	0.06933	1.000000	0.71638	0.497000	0.25183	0.038000	0.14061	0.6379:0.1588:0.2032:0.0	6.088	0.19200	.	.	FAM20, C-terminal	.	.	.	.	.	Likely benign	0	0	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	0.009722	0.000000	0.000000	0.014151	0.000000	0.000000	0.006579	0.027027	0.05	1778.43	34	chr7	259906	.	G	A	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.49;DP=764;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-0.238;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,48:108:99:0|1:259906_G_A:1790,0,2349:259906	9	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	641.49	22	chr7	290725	.	C	G	641.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.31;DP=256;ExcessHet=5.3821;FS=276.35;InbreedingCoeff=-0.5144;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.583;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,10:19:71:.:.:91,0,71:.	3	0	6	1
chr7	2649943	2649943	G	A	exonic	TTYH3	.	nonsynonymous SNV	TTYH3:NM_025250:exon7:c.G826A:p.A276T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0045	0.00399361	0.0013	0.0145	0.0004	0	0	7.533e-05	0.0011	6.058e-05	0.0013001	201	154602	rs149229320	0.0005	0.0005	0.0005	0.0004	0.0139	0.0004	0.0004	0.0129	0.0125	0.0139	0.0007	0	0	0	0.0016	6.655e-05	0.0012	0.0001	0.0043	0.0043	0.0044	0.0042	0.0149	0.0040	0.0039	0.0139	0.0135	0.0149	0	0.0014	0	0	0	0.0034	5.882e-05	0.0033	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.17086	B	0.001	0.11217	B	0.000672	0.42516	N	0.232264	0.999978	0.18878	N	-1.285	0.00728	N	2.81	0.10975	T	1.24	0.01529	N	0.126	0.17691	-0.9292	0.44256	T	0.003	0.01059	T	10	0.010809422	0.00239	T	.	.	.	0.061	0.17616	.	.	0.043077524339	0.03247	0.0669326119661531	0.06631	0.217698442251	0.24293	0.3822504282	0.22576	T	0.063731	0.32250	T	-0.700663	0.00036	T	-0.766907	0.02872	T	0.0140535493901922	0.00272	T	0.325667	0.06705	T	0.018954331	0.00420	0.040233467	0.04303	0.018954331	0.00419	0.040233467	0.04302	-3.851	0.21569	T	.	.	0.058	0.00904	B	.;.;.	.;.;.	1.395890	0.18093	13.54	0.32895994216240459	0.01931	0.21965	0.21585	N	AEFGBI	0.070541	0.14008	N	-0.823829911060705	0.12703	0.6208796	-0.578408465037708	0.20057	1.078889	0.999727139803146	0.42220	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.35	4.35	0.51454	1.623000	0.36618	2.499000	0.33020	-0.040000	0.17491	0.916000	0.31843	1.000000	0.68203	0.755000	0.35964	0.7492:0.0:0.2507:0.0	6.803	0.22947	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	0.005035	0.010101	0.006812	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1517.43	40	chr7	2649943	.	G	A	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=498;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.121;SOR=0.662	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1529,0,1421	9	0	1	0
chr7	8086287	8086287	C	T	exonic	GLCCI1	.	nonsynonymous SNV	GLCCI1:NM_138426:exon8:c.C1393T:p.L465F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00857691705173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.055	0.46862	T	0.999	0.77913	D	0.974	0.73157	D	0.000013	0.62929	D	0.116972	0.999999	0.58761	D	2.47	0.71715	M	.	.	.	-2.8	0.59226	D	0.618	0.63374	-0.2550	0.76224	T	0.412	0.76013	T	9	0.5880612	0.66223	D	0.008577	0.22680	T	0.153	0.40148	0.318	0.29581	0.393927044628	0.39002	0.4691734842697467	0.46836	0.913498714158	0.71147	0.785588741302	0.79772	T	0.357751	0.72441	T	0.0289673	0.55587	T	-0.196167	0.55010	T	0.965856313705444	0.67398	D	0.924508	0.72366	D	0.44785672	0.63906	0.35393065	0.60946	0.44785672	0.63906	0.35393065	0.60945	-4.741	0.33896	T	.	.	0.806	0.77574	P	.	.	4.655642	0.74259	26.1	0.99843411389621062	0.92316	0.93435	0.58209	D	AEFGBCI	0.643891	0.62034	D	0.690869219481497	0.79032	6.993276	0.663969051056666	0.79653	7.128486	0.999961987538704	0.48965	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.14	5.14	0.70008	3.917000	0.56136	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	19.177	0.93591	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2890.43	37	chr7	8086287	.	C	T	2890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.523;DP=532;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.992;SOR=0.76	GT:AD:DP:GQ:PL	0/1:82,122:204:99:2902,0,1787	9	0	1	0
chr7	42911937	42911937	-	CGAGCA	exonic	C7orf25	.	nonframeshift insertion	C7orf25:NM_001099858:exon1:c.130_131insTGCTCG:p.L43_A44insVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465403726	5.418e-05	5.134e-05	5.64e-05	5.19e-05	6.905e-05	4.391e-05	4.036e-05	4.22e-05	3.853e-05	0	0	0.0002	6.905e-05	0.0001	0	5.401e-05	3.623e-05	2.702e-05	0.0001	0.0001	0.0001	0.0001	0.0008	7.089e-05	5.746e-05	0.0003	0.0002	0	0	0	0.0009	0.0008	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	433.39	36	chr7	42911937	.	G	GCGAGCA	433.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.302;DP=263;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.138;SOR=0.204	GT:AD:DP:GQ:PL	0/1:15,13:28:99:445,0,533	9	0	1	0
chr7	43445278	43445278	C	G	exonic	HECW1	.	nonsynonymous SNV	HECW1:NM_001287059:exon10:c.C2106G:p.C702W,HECW1:NM_015052:exon11:c.C2106G:p.C702W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0361142346917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.182	0.38305	T	0.999	0.77913	D	0.949	0.68658	D	0.113898	0.19297	N	0.579212	1	0.81001	D	2.19	0.61577	M	1.39	0.34648	T	-1.52	0.45587	N	0.811	0.80669	-1.0021	0.29313	T	0.141	0.46110	T	10	0.5128976	0.62200	D	0.036114	0.56785	D	0.167	0.42761	0.171	0.07655	0.082315109003	0.07666	0.44513706627335126	0.44431	1.64548930497	0.89442	0.744890451431	0.73693	T	0.089055	0.38292	T	-0.0381602	0.46222	T	-0.292591	0.45503	T	0.963783085346222	0.66761	D	0.882412	0.60266	D	0.62203467	0.73872	0.32320476	0.58254	0.62203467	0.73873	0.32320476	0.58253	-9.826	0.72863	D	.	.	0.636	0.81331	P	.;.	.;.	4.344058	0.66670	25.0	0.99458857618614693	0.65684	0.84770	0.43859	D	AEFGBHCI	0.735481	0.68128	D	0.293377747399553	0.55813	3.745338	0.251152499540474	0.52714	3.44448	0.999931580684981	0.46732	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.36	3.46	0.38718	1.967000	0.40115	1.583000	0.27486	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7102:0.0:0.2898	6.932	0.23626	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2098.43	36	chr7	43445278	.	C	G	2098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.159;DP=534;ExcessHet=0;FS=2.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.54;SOR=0.621	GT:AD:DP:GQ:PL	0/1:107,94:201:99:2110,0,2380	9	0	1	0
chr7	43456393	43456393	C	T	exonic	HECW1	.	nonsynonymous SNV	HECW1:NM_001287059:exon11:c.C2495T:p.P832L,HECW1:NM_015052:exon13:c.C2597T:p.P866L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.010439985946	0.0014	0.000998403	0.0024	0.0002	0.0024	0.0030	0.0080	0.0025	0.0044	0.0004	0.0020375	315	154602	rs201757499	0.0015	0.0015	0.0015	0.0015	0.0037	0.0014	0.0014	0.0032	0.0030	0.0002	0.0025	0.0008	0.0037	0.0075	0.0005	0.0012	0.0016	0.0005	0.0021	0.0021	0.0018	0.0024	0.0044	0.0019	0.0018	0.0030	0.0026	0.0002	0.0022	0.0013	0.0012	0.0044	0.0081	0	0.0025	0.0009	0.0004	0.001	0.78490	D	0.066	0.44501	T	0.343	0.33512	B	0.042	0.24114	B	0.000064	0.52346	D	0.200404	1	0.81001	D	2.225	0.63025	M	1.42	0.33189	T	-5.16	0.83422	D	0.659	0.66873	-1.0962	0.04583	T	0.103	0.37869	T	10	0.009299606	0.00210	T	0.01044	0.26980	T	0.186	0.46104	.	.	0.223474106383	0.21959	0.3333179740395619	0.33244	0.517787163206	0.49640	0.642088055611	0.58861	T	0.36564	0.73102	T	-0.334701	0.05763	T	-0.250383	0.49780	T	0.0530653392788842	0.06030	T	0.807219	0.47186	T	0.26872295	0.49944	0.3894369	0.63763	0.26872295	0.49944	0.3894369	0.63763	-5.034	0.45673	T	.	.	0.071	0.18247	B	.;.	.;.	3.358596	0.46356	22.3	0.99887622328356751	0.96204	0.97345	0.74163	D	AEFDGBHCI	0.656068	0.62819	D	0.384049344337946	0.60557	4.245968	0.497650586395608	0.67833	5.137401	1.0	0.98316	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.63947	0.58350	0	.	.	6.06	6.06	0.98340	1.997000	0.40406	4.202000	0.42475	-0.176000	0.10722	0.868000	0.30757	0.999000	0.35428	0.971000	0.54645	0.0:1.0:0.0:0.0	20.621	0.99492	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	1061.43	43	chr7	43456393	.	C	T	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.568;DP=402;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-0.188;SOR=0.449	GT:AD:DP:GQ:PL	0/1:25,42:67:99:1073,0,519	9	0	1	0
chr7	43596072	43596072	A	C	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon2:c.A378C:p.E126D	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0003	0.00858626	0.0031	9.632e-05	0.0041	0.0344	0	0.0003	0.0011	0.0008	0.0029301	453	154602	rs56286238	0.0015	0.0015	0.0015	0.0015	0.0414	0.0015	0.0015	0.0398	0.0391	0.0001	0.0031	0.0039	0.0414	0	0.0004	5.128e-05	0.0030	0.0013	0.0018	0.0018	0.0016	0.0019	0.0385	0.0016	0.0015	0.0342	0.0325	0.0002	0	0.0020	0.0040	0.0385	0	0	0.0001	0.0019	0.0008	0.49	0.07994	T	0.453	0.12848	T	0.817	0.45613	P	0.532	0.48601	P	0.000184	0.48115	D	0.000000	0.994045	0.42141	D	0.11	0.08516	N	1.23	0.36872	T	-2.15	0.48687	N	0.239	0.26957	-1.0659	0.10339	T	0.011	0.04088	T	10	0.0077467263	0.00176	T	.	.	.	0.133	0.36157	0.644	0.78117	0.552698843619	0.54927	0.5869716842468151	0.58627	0.250345542051	0.27606	0.523613572121	0.42134	T	0.023284	0.17802	T	-0.506017	0.00529	T	-0.456378	0.26995	T	0.0372486900723612	0.03200	T	.	.	.	0.17425236	0.38219	0.164596	0.38122	0.17425236	0.38218	0.164596	0.38121	-6.037	0.46588	T	.	.	0.226	0.45798	B	.	.	2.970005	0.39582	21.0	0.99533922102068229	0.70025	0.75997	0.37241	D	AEFDBI	0.167740	0.29444	N	-0.208291164233842	0.32794	1.853399	-0.0979637549577172	0.35475	2.052815	0.999898236868037	0.45129	0.736574	0.97449	0	0.698795	0.70079	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	4.88	2.56	0.29842	0.373000	0.20215	3.054000	0.36132	0.691000	0.84096	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.8654:0.0:0.1346:0.0	9.433	0.37787	732	0.54084	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.007576	0.05	948.43	34	chr7	43596072	.	A	C	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.202;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.185;SOR=0.778	GT:AD:DP:GQ:PL	0/1:50,43:93:99:960,0,1269	9	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	916.9	137	chr7	47829596	.	G	C	916.9	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.646;DP=1246;ExcessHet=22.563;FS=294.996;InbreedingCoeff=-0.914;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.475;SOR=11.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,31:124:9:.:.:87,0,930:.	4	0	6	0
chr7	48279017	48279017	T	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon18:c.T7823G:p.I2608R	.	425	1079	17	1	0	19	0.00872761	.	.	.	2828477	not_provided|ABCA13-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.00756563039803	0.0033	0.00119808	0.0025	0.0009	0.0032	0	0.0002	0.0037	0.0034	0.0006	0.0024515	379	154602	rs190991016	0.0030	0.0030	0.0031	0.0030	0.0075	0.0030	0.0029	0.0057	0.0051	0.0005	0.0033	0.0011	5.042e-05	0.0002	0.0075	0.0035	0.0031	0.0009	0.0026	0.0026	0.0029	0.0023	0.0050	0.0024	0.0023	0.0041	0.0038	0.0008	0	0.0050	0.0006	0	9.411e-05	0.0204	0.0040	0.0061	0.0004	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	0.262741	0.15282	N	0.575119	1	0.08975	N	.	.	.	0.21	0.59983	T	-2.19	0.49352	N	0.348	0.38950	-1.0226	0.22866	T	0.087	0.33802	T	10	0.0074211657	0.00169	T	0.007566	0.20086	T	0.100	0.28662	.	.	0.177238962908	0.17366	0.09392363294872028	0.09324	0.0348109853803	0.03667	0.273506522179	0.06602	T	.	.	.	-0.410171	0.01982	T	-0.361418	0.37888	T	0.0115028391802233	0.00173	T	0.341266	0.07400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17317	B	.	.	-0.215539	0.03013	0.457	0.88337036275865932	0.17897	0.02144	0.06313	N	AEBI	0.047659	0.08047	N	-1.1531626714214	0.05728	0.2618921	-1.22524984876113	0.05506	0.2625626	0.0299179116472265	0.13913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.93	-2.52	0.05978	-0.141000	0.10308	-0.216000	0.10808	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.15:0.2669:0.1549:0.4282	0.977	0.01339	674	0.60593	.	.	.	.	.	.	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	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1851.43	33	chr7	48279017	.	T	G	1851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=544;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.743;SOR=0.699	GT:AD:DP:GQ:PL	0/1:77,71:148:99:1863,0,1814	9	0	1	0
chr7	64078463	64078463	A	T	exonic	ZNF727	.	stopgain	ZNF727:NM_001159522:exon4:c.A1414T:p.R472X	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999932	0.51612	D	.	.	.	.	.	.	.	.	.	0.031	0.00770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456954	0.92789	D	0.418607	0.92700	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.667474	0.92916	33	0.95347844531515613	0.26729	0.00103	0.00666	N	AEFBHCI	0.064439	0.12512	N	-0.00530434970096422	0.41614	2.492309	-0.461325695880393	0.23228	1.26565	9.62209856998073E-4	0.08067	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.926	0.926	0.18556	-0.251000	0.08837	.	.	0.341000	0.19778	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	5.771	0.17519	906	0.23090	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	.	.	.	.	.	.	.	.	0.05	905.43	91	chr7	64078463	.	A	T	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.89;DP=551;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.842;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,26:84:99:0|1:64078463_A_T:917,0,2337:64078463	9	0	1	0
chr7	64078464	64078464	G	T	exonic	ZNF727	.	nonsynonymous SNV	ZNF727:NM_001159522:exon4:c.G1415T:p.R472I	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.017469610845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.29249	T	0.973	0.57599	D	0.876	0.62173	P	.	.	.	.	0.924233	0.36769	D	2.3	0.65703	M	.	.	.	.	.	.	0.117	0.10626	-1.0173	0.24592	T	0.032	0.13679	T	8	0.20492783	0.36702	T	0.01747	0.39181	T	.	.	0.621	0.75576	0.176091768786	0.17195	0.03263319282563257	0.03211	.	.	0.314275026321	0.12553	T	0.007609	0.07006	T	-0.193321	0.21772	T	-0.515468	0.20754	T	0.180266439914703	0.19251	T	0.765223	0.39255	T	0.09248996	0.21700	0.13621166	0.32593	0.09248996	0.21699	0.13621166	0.32592	-6.238	0.48229	T	.	.	0.152	0.33573	B	.	.	0.563009	0.09313	6.097	0.59393996737561983	0.06214	0.00227	0.01275	N	AEFBHCI	0.166413	0.29300	N	-0.510347623020504	0.21745	1.156234	-0.761661785105369	0.15437	0.8118263	0.318357139242925	0.19358	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.926	0.926	0.18556	-1.168000	0.03233	.	.	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	7.382	0.26035	906	0.23090	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	.	.	.	.	.	.	.	.	0.05	905.43	91	chr7	64078464	.	G	T	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.088;DP=550;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.977;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,26:84:99:0|1:64078463_A_T:917,0,2337:64078463	9	0	1	0
chr7	74338771	74338771	C	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C445A:p.P149T,CLIP2:NM_032421:exon3:c.C445A:p.P149T	.	427	1091	4	0	0	4	0.00182983	.	.	.	2197426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0651675158677	0.0004	.	0.0004	0	0.0003	0	0	0.0005	0	0.0003	0.0002135	33	154602	rs200574175	0.0002	0.0002	0.0002	0.0002	0.0061	0.0002	0.0002	0.0045	0.0040	8.974e-05	0.0001	0.0046	0	0	0.0061	0.0001	0.0004	8.154e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.739e-05	8.254e-05	8.875e-05	5.285e-05	2.405e-05	0	0.0003	0.0026	0	0	0.0068	5.88e-05	0.0009	0	0.27	0.16038	T	0.085	0.41074	T	0.934	0.52202	P	0.71	0.54502	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	-0.83	0.74159	T	-3.2	0.64710	D	0.185	0.20129	-0.3355	0.73974	T	0.347	0.71202	T	10	0.013994783	0.00295	T	0.065168	0.69499	D	0.284	0.60219	.	.	0.413198161389	0.40934	0.6234890799690306	0.62281	1.47436501336	0.86588	0.708914220333	0.68437	T	0.572191	0.85853	D	-0.192987	0.21821	T	-0.250561	0.49761	T	0.124078296124935	0.14824	T	0.885211	0.61727	D	0.47028252	0.65307	0.31652844	0.57632	0.47028252	0.65308	0.31652844	0.57632	-6.507	0.51410	T	.	.	0.176	0.38409	B	.;.;.	.;.;.	3.766952	0.54085	23.4	0.99777561400277226	0.86433	0.86005	0.45208	D	AEFDBCI	0.415450	0.48431	N	0.341104637175375	0.58271	3.998451	0.399528847331914	0.61537	4.35505	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	2.429000	0.44415	4.710000	0.44452	0.520000	0.23804	0.958000	0.33488	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	16.694	0.85187	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005550	0.005102	0.006793	0.008772	0.000000	0.017241	0.000000	0.000000	0.05	1474.43	71	chr7	74338771	.	C	A	1474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.382;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.236;SOR=0.748	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1486,0,1623	9	0	1	0
chr7	76510998	76510998	G	A	exonic	UPK3B	.	nonsynonymous SNV	UPK3B:NM_030570:exon1:c.G346A:p.D116N,UPK3B:NM_001347684:exon2:c.G181A:p.D61N,UPK3B:NM_182683:exon2:c.G181A:p.D61N,UPK3B:NM_182684:exon2:c.G181A:p.D61N	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0173217072352	0.0008	0.000599042	0.0040	0.0011	0.0042	0	0.0043	0.0056	0	0.0032	0.0001876	29	154602	rs144609046	0.0021	0.0021	0.0021	0.0021	0.0027	0.0020	0.0020	0.0022	0.0022	0.0002	0.0003	0.0004	2.567e-05	0.0017	0.0027	0.0023	0.0020	0.0024	0.0014	0.0014	0.0014	0.0013	0.0024	0.0012	0.0011	0.0021	0.0020	0.0002	0	0.0003	0	0	0.0023	0	0.0024	0	0.0015	0.166	0.28900	T	0.246	0.26631	T	0.999	0.77913	D	0.9	0.64984	P	0.043977	0.23686	N	0.412335	1	0.08975	N	2.425	0.70256	M	0.34	0.58176	T	-0.99	0.38734	N	0.313	0.35301	-1.0202	0.23649	T	0.151	0.47839	T	10	0.005808711	0.00130	T	0.017322	0.38971	T	0.068	0.19811	.	.	0.28492961333	0.28089	0.5229033510517889	0.52213	.	.	0.400426834822	0.25128	T	0.005367	0.04821	T	-0.571738	0.00216	T	-0.599587	0.12846	T	0.0200471854255136	0.00705	T	0.687931	0.29705	T	0.032730978	0.03354	0.036605395	0.03140	0.032730978	0.03353	0.036605395	0.03139	-5.285	0.39794	T	.	.	0.104	0.38924	B	.;.;.	.;.;.	2.074716	0.26388	17.10	0.99621726635758256	0.75473	0.04748	0.10451	N	AEFGBI	0.067371	0.13241	N	-0.220029420640296	0.32311	1.820949	-0.33848716515106	0.26867	1.486885	0.946602603400206	0.27714	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	4.93	2.99	0.33673	0.549000	0.23037	2.419000	0.32678	-0.800000	0.03169	0.004000	0.16614	0.995000	0.32472	0.011000	0.09372	0.0919:0.0:0.7447:0.1633	7.759	0.28109	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	0.001697	0.012658	0.000000	0.000000	0.000000	0.000000	0.006897	0.000000	0.05	784.43	37	chr7	76510998	.	G	A	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.601;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.18;MQRankSum=-1.205;QD=10.46;ReadPosRankSum=-0.731;SOR=0.756	GT:AD:DP:GQ:PL	0/1:38,37:75:99:796,0,868	9	0	1	0
chr7	77199646	77199646	C	T	exonic	FGL2	.	nonsynonymous SNV	FGL2:NM_006682:exon1:c.G148A:p.E50K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0115846605097	.	.	2.472e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs763301081	7.525e-06	7.524e-06	9.529e-06	5.5e-06	0.0002	4.04e-06	2.95e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.496e-06	4.967e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.14	0.33554	T	0.004	0.12183	B	0.001	0.04355	B	0.025859	0.26018	N	0.453336	1	0.81001	D	0.805	0.20218	L	0.3	0.58755	T	-0.88	0.23808	N	0.218	0.24385	-0.9850	0.33832	T	0.143	0.46550	T	10	0.16256177	0.30463	T	0.011585	0.29347	T	0.110	0.31079	0.39	0.41279	0.469082249319	0.46535	0.47139111657557997	0.47058	0.170293765512	0.19201	0.365323245525	0.20158	T	0.334962	0.70463	T	-0.203178	0.20346	T	-0.465981	0.25950	T	0.484546691179276	0.32064	T	0.571043	0.20346	T	0.05071775	0.09204	0.06623908	0.13541	0.05071775	0.09204	0.06623908	0.13540	-3.995	0.23729	T	.	.	0.068	0.16275	B	.;.	.;.	1.945109	0.24705	16.50	0.98840487430215629	0.47119	0.92146	0.55047	D	AEFDGBCI	0.774702	0.70833	D	-0.611482972542838	0.18598	0.9668666	-0.55166961777549	0.20761	1.120077	0.999999999984421	0.74766	0.541725	0.22260	1	0.405561	0.06353	1	0.459889	0.06779	1	0.530356	0.10902	0	.	.	4.31	3.42	0.38259	5.680000	0.67831	0.193000	0.15765	-0.276000	0.06580	1.000000	0.71638	0.000000	0.08366	0.032000	0.13371	0.0:0.9139:0.0:0.0861	12.030	0.52686	477	0.77662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1126.43	33	chr7	77199646	.	C	T	1126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.982;DP=409;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.774;SOR=0.826	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1138,0,881	9	0	1	0
chr7	80671097	80671097	C	A	exonic	CD36	.	stopgain	CD36:NM_001289908:exon6:c.C822A:p.C274X,CD36:NM_001371080:exon7:c.C474A:p.C158X,CD36:NM_001127444:exon8:c.C939A:p.C313X,CD36:NM_001289909:exon8:c.C759A:p.C253X,CD36:NM_001289911:exon8:c.C711A:p.C237X,CD36:NM_001127443:exon9:c.C939A:p.C313X,CD36:NM_000072:exon10:c.C939A:p.C313X,CD36:NM_001001547:exon10:c.C939A:p.C313X,CD36:NM_001001548:exon10:c.C939A:p.C313X,CD36:NM_001371074:exon10:c.C939A:p.C313X,CD36:NM_001371075:exon10:c.C939A:p.C313X,CD36:NM_001371077:exon10:c.C939A:p.C313X,CD36:NM_001371078:exon10:c.C939A:p.C313X,CD36:NM_001371079:exon10:c.C837A:p.C279X,CD36:NM_001371081:exon10:c.C474A:p.C158X	Platelet glycoprotein IV deficiency, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	YES	3512231	CD36-related_disorder	.	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs762366674	2.602e-05	2.668e-05	2.725e-05	2.477e-05	0.0016	1.934e-05	1.694e-05	0.0008	0.0006	0	4.473e-05	0	0	0	0.0016	1.53e-05	6.63e-05	6.957e-05	6.575e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.946	0.95725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381268	0.88790	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;Recessive;Recessive;Recessive;.	High;High;.;.;.;High;High;High;.	7.456890	0.96536	36	0.99433755170560567	0.64423	0.84997	0.44096	D	AEFCI	0.525168	0.54805	D	0.743991273880416	0.82511	7.781182	0.552848325746953	0.71596	5.678917	0.237080001196318	0.18530	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	2.81	0.31971	0.046000	0.13919	-0.001000	0.13204	-0.257000	0.07002	0.860000	0.30612	0.776000	0.26740	0.990000	0.65344	0.0:0.7091:0.0:0.2909	9.416	0.37686	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	697.43	39	chr7	80671097	.	C	A	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.825;DP=375;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.386;SOR=0.951	GT:AD:DP:GQ:PL	0/1:25,31:56:99:709,0,569	9	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	92.44	144	chr7	80674068	.	T	C	92.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.327;DP=847;ExcessHet=0.7463;FS=134.406;InbreedingCoeff=-0.1534;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.37;SOR=10.061	GT:AD:DP:GQ:PL	0/1:93,31:124:22:22,0,1832	7	0	3	0
chr7	87452957	87452957	T	C	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon6:c.A523G:p.T175A,ABCB4:NM_018849:exon6:c.A523G:p.T175A,ABCB4:NM_018850:exon6:c.A523G:p.T175A	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	6	1494	21	1	0	23	0.00763866	.	.	.	28730	not_specified|not_provided|Cholestasis,_intrahepatic,_of_pregnancy,_3|Low_phospholipid_associated_cholelithiasis|Progressive_familial_intrahepatic_cholestasis_type_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665|MONDO:MONDO:0010939,MedGen:C2609268,OMIM:600803,Orphanet:69663|MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.581	.	0.0085	0.00638978	0.0106	0.0012	0.0079	0.0006	0.0337	0.0107	0.0243	0.0133	0.0100581	1555	154602	rs58238559	0.0094	0.0094	0.0091	0.0096	0.0136	0.0092	0.0092	0.0130	0.0127	0.0013	0.0078	0.0051	0.0007	0.0353	0.0047	0.0086	0.0076	0.0136	0.0091	0.0091	0.0079	0.0103	0.0120	0.0087	0.0085	0.0095	0.0092	0.0013	0.0099	0.0074	0.0035	0.0004	0.0418	0.0034	0.0100	0.0057	0.0120	0.002	0.72154	D	0.083	0.41405	T	0.841	0.47740	P	0.615	0.55432	P	0.000000	0.84330	D	0.046680	1	0.81001	A	2.755	0.80505	M	-1.33	0.79854	T	-3.77	0.71997	D	0.322	0.51851	0.159	0.85208	D	0.481	0.80185	T	9	0.011848539	0.00257	T	.	.	.	0.581	0.83137	.	.	.	.	0.8884451188334237	0.88813	0.778371249764	0.65146	0.491507828236	0.37648	T	0.76704	0.93735	D	-0.121492	0.32879	T	0.0643854	0.74536	D	0.0273231974595752	0.01590	T	0.927907	0.73422	D	0.7808954	0.82709	0.70820194	0.82793	0.82174784	0.85339	0.6922355	0.81887	-8.721	0.66817	D	0.31431262091786344	0.41231	0.139	0.39982	B	.;.;.;.;.	.;.;.;.;.	4.349374	0.66796	25.0	0.99899103891873675	0.97124	0.99189	0.92544	D	AEFBI	0.877848	0.80274	D	0.521155578972957	0.68343	5.204016	0.574596404183443	0.73126	5.919407	0.999999960561408	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	5.089000	0.64326	7.875000	0.72177	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.258	0.82351	464	0.78488	.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.000000	0.015244	0.007576	0.05	595.43	35	chr7	87452957	.	T	C	595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.381;SOR=0.648	GT:AD:DP:GQ:PL	0/1:32,24:56:99:607,0,771	9	0	1	0
chr7	91874600	91874600	G	A	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.C134T:p.T45I,MTERF1:NM_006980:exon3:c.C194T:p.T65I,MTERF1:NM_001301135:exon4:c.C134T:p.T45I	.	435	1028	56	3	0	62	0.0292729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0040	0.00559105	0.0068	0.0008	0.0039	0	0.0008	0.0054	0.0077	0.0246	0.0063777	986	154602	rs144315661	0.0060	0.0061	0.0053	0.0068	0.0242	0.0059	0.0059	0.0234	0.0230	0.0007	0.0049	0.0093	2.519e-05	0.0009	0.0189	0.0051	0.0065	0.0242	0.0037	0.0037	0.0036	0.0038	0.0193	0.0034	0.0033	0.0161	0.0150	0.0008	0.0022	0.0046	0.0078	0.0004	0.0005	0.0136	0.0046	0.0057	0.0193	0.022	0.53172	D	0.056	0.48336	T	0.0	0.02946	B	0.0	0.01387	B	0.248325	0.03630	N	1.642570	1	0.08975	N	.	.	.	2.14	0.19588	T	-1.41	0.46673	N	0.065	0.06454	-1.0217	0.23162	T	0.016	0.06616	T	10	0.0039517283	0.00076	T	.	.	.	0.038	0.09825	.	.	0.132336055621	0.12781	0.2644336759851309	0.26356	0.0143366314817	0.01361	0.268318295479	0.05923	T	0.04567	0.28255	T	-0.603668	0.00139	T	-0.620979	0.11108	T	0.000724357750141172	0.00007	T	0.316468	0.06291	T	0.072079584	0.16005	0.06939085	0.14615	0.072079584	0.16005	0.06939085	0.14614	-3.658	0.18700	T	.	.	0.085	0.13644	B	.;.;.;.;.	.;.;.;.;.	-0.333427	0.02474	0.287	0.96019872344555135	0.28471	0.08748	0.14631	N	AEFBI	0.060282	0.11445	N	-1.29027437057803	0.03791	0.1700041	-1.3719998385924	0.03553	0.1659791	0.267473086559066	0.18856	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.23	-5.02	0.02759	-0.051000	0.11840	0.012000	0.13456	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1521:0.15:0.2022:0.4958	2.209	0.03702	144	0.94257	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.008152	0.002924	0.000000	0.008621	0.018293	0.037879	0.05	1567.43	38	chr7	91874600	.	G	A	1567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.851;DP=496;ExcessHet=0;FS=1.303;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.48;SOR=0.561	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1579,0,2121	9	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,16:150:81:.:.:81,0,4728:.	2	0	8	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	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,25:151:99:.:.:147,0,4728:.	0	0	10	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, 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	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.05	1344.43	36	chr7	95592889	.	T	C	1344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.362;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.16;SOR=0.723	GT:AD:DP:GQ:PL	0/1:86,65:151:99:1356,0,1971	9	0	1	0
chr7	99767244	99767244	G	A	exonic	CYP3A4	.	nonsynonymous SNV	CYP3A4:NM_001202855:exon8:c.C682T:p.L228F,CYP3A4:NM_017460:exon8:c.C685T:p.L229F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.024479688708	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1435412522	6.962e-06	8.209e-06	4.153e-06	9.804e-06	0.0002	3.52e-06	2.57e-06	1.657e-05	9.79e-06	0	0	0	2.549e-05	0	0.0002	2.717e-06	1.69e-05	4.955e-05	6.574e-06	6.568e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.086	0.38863	T	0.054	0.47097	T	0.394	0.34702	B	0.213	0.37437	B	0.009185	0.30475	N	0.341387	0.999084	0.46032	D	2.525	0.73725	M	-0.51	0.70597	T	-3.6	0.69357	D	0.11	0.10056	-0.3075	0.74775	T	0.409	0.75768	T	10	0.10977647	0.20492	T	0.02448	0.47468	T	0.214	0.50650	0.562	0.68229	0.556383890621	0.55297	.	.	0.373761606548	0.38841	0.365618467331	0.20201	T	0.082075	0.79281	T	-0.192126	0.21947	T	-0.398798	0.33525	T	0.525432586669922	0.33565	D	0.869013	0.57273	D	0.45177105	0.64153	0.6051217	0.77047	0.45177105	0.64154	0.6051217	0.77048	-9.476	0.70710	D	.	.	0.168	0.36889	B	.;.	.;.	1.876629	0.23837	16.17	0.95611759940832253	0.27366	0.14457	0.18413	N	AEFBI	0.354818	0.44676	N	-0.639190598497146	0.17776	0.9175772	-0.715351046225058	0.16579	0.8776835	0.449018607598362	0.20523	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.03	2.0	0.25495	0.219000	0.17426	1.500000	0.26949	-0.106000	0.15538	0.095000	0.22689	0.909000	0.28100	0.039000	0.14166	0.0:0.0:0.6426:0.3574	10.170	0.42082	126	0.94940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	442.43	33	chr7	99767244	.	G	A	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=351;ExcessHet=0;FS=3.249;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-2.225;SOR=1.489	GT:AD:DP:GQ:PL	0/1:24,16:40:99:454,0,644	9	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,38:101:99:0|1:100175805_G_C:726,0,2125:100175805	0	0	10	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,38:74:99:0|1:100773849_CCAT_C:1476,0,1397:100773849	2	3	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:319,94:443:99:2987,0,13112	1	0	9	0
chr7	100992533	100992533	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C1970T:p.P657L	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0091459287287	0.0026	0.00179712	0.0019	0.0004	0	0	0.0056	0.0029	0.0042	0.0005	0.0015782	244	154602	rs184992838	0.0042	0.0043	0.0043	0.0041	0.0050	0.0041	0.0041	0.0049	0.0048	0.0009	0.0025	0.0002	5.597e-05	0.0029	0.0011	0.0050	0.0032	0.0010	0.0029	0.0031	0.0032	0.0027	0.0050	0.0027	0.0026	0.0045	0.0044	0.0012	0	0.0022	0	0	0.0017	0	0.0050	0.0019	0.0006	0.107	0.30375	T	0.071	0.43531	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.39	0.00611	N	2.47	0.14907	T	-0.48	0.15986	N	0.038	0.01203	-1.0026	0.29168	T	0.011	0.04088	T	6	0.0054731667	0.00121	T	0.009146	0.24059	T	0.003	0.00094	.	.	0.0806252709748	0.07271	2.1920732658694026E-4	0.00019	.	.	0.457072615623	0.32910	T	0.003233	0.02636	T	-0.754808	0.00016	T	-0.855915	0.00888	T	0.00792121135092647	0.00093	T	0.212579	0.02598	T	0.028718626	0.02252	0.06722973	0.13879	0.028718626	0.02252	0.06722973	0.13879	-2.226	0.04168	T	.	.	0.087	0.25689	B	.;.	.;.	-0.690454	0.01342	0.075	0.22338829363146598	0.00894	0.00115	0.00727	N	AEFDBHCI	0.017427	0.00456	N	-1.70600716073763	0.00821	0.03548135	-1.89576230013728	0.00499	0.02211496	0.0422752824031701	0.14519	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.463	-0.925	0.09926	-4.306000	0.00292	-7.414000	0.01162	-1.813000	0.00609	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3895.43	344	chr7	100992533	.	C	T	3895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=3478;ExcessHet=0;FS=1.201;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.331;QD=6.79;ReadPosRankSum=-0.241;SOR=0.733	GT:AD:DP:GQ:PL	0/1:395,179:574:99:3907,0,10522	9	0	1	0
chr7	103594359	103594359	T	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon26:c.A3673G:p.K1225E,RELN:NM_173054:exon26:c.A3673G:p.K1225E	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1454300	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.148	0.0181492380748	.	.	8.237e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs747877040	4.105e-06	4.104e-06	2.723e-06	5.501e-06	7.558e-05	1.48e-06	9.7e-07	2.004e-05	1.055e-05	0	4.472e-05	0	7.558e-05	0	0	8.994e-07	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	6.816e-05	2.853e-05	0	0	0	0	0.0004	0	0	0	0	0	0.144	0.25255	T	0.017	0.60337	D	0.982	0.66517	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999972	0.53665	D	1.735	0.44892	L	1.84	0.24656	T	-1.12	0.28906	N	0.721	0.72477	-1.0475	0.15102	T	0.115	0.40808	T	10	0.6252775	0.68206	D	0.018149	0.40116	T	0.148	0.39182	0.499	0.58991	0.409069985131	0.40521	0.6662841119196208	0.66566	0.817490752226	0.67004	0.662209510803	0.61725	T	0.10062	0.40659	T	-0.0733849	0.40784	T	-0.167342	0.57686	T	0.819967985153198	0.47770	D	0.929907	0.74113	D	0.26270232	0.49333	0.2957279	0.55605	0.26270232	0.49333	0.2957279	0.55604	-6.485	0.50171	T	0.4351934977283733	0.52166	0.518	0.65412	A	.;.;.	.;.;.	4.636507	0.73764	26.0	0.99881601073503834	0.95733	0.92663	0.56244	D	AEFBHCI	0.947911	0.95899	D	0.610314249132044	0.73828	6.03005	0.634674813153015	0.77474	6.686289	0.999999979095963	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	7.448000	0.79687	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.492	0.75347	909	0.22467	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	1443.43	33	chr7	103594359	.	T	C	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=439;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.093;SOR=0.793	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1455,0,1462	9	0	1	0
chr7	105614758	105614758	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1204G:p.P402A,ATXN7L1:NM_001318229:exon10:c.C928G:p.P310A,ATXN7L1:NM_001385596:exon10:c.C1576G:p.P526A,ATXN7L1:NM_020725:exon10:c.C1576G:p.P526A	.	0	225	1	0	0	1	0.00221729	.	.	.	2455387	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00629405182497	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896651515	5.002e-06	4.788e-06	4.23e-06	5.795e-06	0.0005	2.08e-06	1.34e-06	0.0001	7.633e-05	0	0	0	0	0	0.0005	0	6.894e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37750	T	0.232	0.38305	T	0.278	0.32022	B	0.084	0.29270	B	0.000245	0.46924	D	0.151236	0.960315	0.38379	D	0.6	0.15550	N	2.49	0.17113	T	-0.78	0.21644	N	0.21	0.24385	-1.0649	0.10572	T	0.029	0.12585	T	10	0.16823685	0.31364	T	0.006294	0.16522	T	0.009	0.00846	0.3	0.26683	0.41219620536	0.40839	0.4389527701165688	0.43812	0.407761798799	0.41625	0.562052845955	0.47557	T	0.005879	0.13088	T	-0.192329	0.21917	T	-0.498558	0.22497	T	0.263212025165558	0.23455	T	0.90231	0.65919	D	0.06355869	0.13394	0.051515605	0.08307	0.06355869	0.13394	0.051515605	0.08307	-3.807	0.21884	T	.	.	0.056	0.03128	B	.;.;.;.	.;.;.;.	2.432415	0.31291	18.70	0.97267623144826898	0.33121	0.82871	0.42042	D	AEFBCI	0.270624	0.38665	N	-0.0903620043920996	0.37814	2.205486	0.0811285743731478	0.43600	2.658423	0.997532845383999	0.35727	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.7	4.79	0.60909	2.563000	0.45585	8.641000	0.77894	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0711:0.0:0.7756:0.1533	9.491	0.38123	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2690.43	38	chr7	105614758	.	G	C	2690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=749;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.77;SOR=0.53	GT:AD:DP:GQ:PL	0/1:125,111:236:99:2702,0,3016	9	0	1	0
chr7	108079741	108079741	C	A	exonic	LAMB4	.	stopgain	LAMB4:NM_001318046:exon15:c.G1747T:p.G583X,LAMB4:NM_001318047:exon15:c.G1747T:p.G583X,LAMB4:NM_001318048:exon15:c.G1747T:p.G583X,LAMB4:NM_007356:exon15:c.G1747T:p.G583X	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0006	9.783e-05	0	0	0	0.0003	0	0.0035	0.0004981	77	154602	rs149878640	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	0	2.289e-05	7.712e-05	0	0	0.0028	0.0001	0.0004	0.0032	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	0	0	0	0	0	0.0001	0.0005	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.061992	0.22130	N	0.310467	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.213	0.23758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0781165	0.40020	T	0.11165	0.77681	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	6.001381	0.94308	34	0.96873915662835741	0.31430	0.17458	0.19846	N	AEFDGBHCI	0.039964	0.05879	N	-0.16958539694304	0.34404	1.963363	-0.444445098587172	0.23706	1.294242	0.999999999528665	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.31	-1.69	0.07747	0.332000	0.19494	-0.269000	0.10363	-1.066000	0.01605	0.906000	0.31575	0.000000	0.08366	0.702000	0.34203	0.1586:0.2147:0.3501:0.2766	1.507	0.02339	717	0.55835	Laminin IV type B;Laminin IV type B;Laminin IV type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	1730.43	34	chr7	108079741	.	C	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.748;DP=449;ExcessHet=0;FS=3.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.83;SOR=0.953	GT:AD:DP:GQ:PL	0/1:51,69:120:99:1742,0,1192	9	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	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,20:185:99:0|1:128479325_T_C:343,0,6812:128479325	2	0	7	1
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	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,20:185:99:0|1:128479325_T_C:343,0,6812:128479325	1	0	7	2
chr7	128842905	128842905	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon16:c.C2501T:p.T834M,FLNC:NM_001458:exon16:c.C2501T:p.T834M	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	1496	24	2	0	28	0.00927152	.	.	YES	134529	Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Myofibrillar_myopathy_5|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.447	.	0.0012	0.0239617	0.0090	0.0005	0.0012	0.0179	0	0.0012	0.0056	0.0498	0.0084281	1303	154602	rs75133741	0.0050	0.0050	0.0038	0.0063	0.0493	0.0049	0.0049	0.0480	0.0475	0.0005	0.0007	0	0.0189	3.757e-05	0.0016	0.0017	0.0062	0.0493	0.0034	0.0034	0.0022	0.0046	0.0561	0.0031	0.0030	0.0506	0.0485	0.0003	0	0.0015	0	0.0203	0	0	0.0015	0.0014	0.0561	0.135	0.27663	T	0.125	0.35455	T	0.249	0.34030	B	0.044	0.35687	B	0.000001	0.84330	D	0.053555	0.999646	0.48019	D	2.21	0.62235	M	-3.09	0.93170	D	-3.02	0.64593	D	0.438	0.49420	0.082	0.83849	D	0.493	0.80757	T	10	0.010443568	0.00232	T	.	.	.	0.447	0.74866	.	.	0.474368926326	0.47065	0.3821749051926247	0.38132	0.432603500595	0.43432	0.613334536552	0.54787	T	0.745869	0.92998	D	-0.265909	0.12217	T	-0.11823	0.61948	T	0.0407364212241147	0.03823	T	0.918008	0.70480	D	0.08972675	0.20975	0.12818894	0.30844	0.09558347	0.22497	0.13841659	0.33057	-3.932	0.22783	T	0.2128994219855428	0.28577	0.065	0.02609	B	.;.	.;.	3.668437	0.52151	23.2	0.99082601232310663	0.52002	0.90739	0.52170	D	AEFDBHCI	0.358683	0.44928	N	0.130846518323266	0.47906	3.009856	0.276113382339496	0.54148	3.580719	0.999999999999857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.691665	0.62940	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.671000	0.46507	5.995000	0.52393	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.464000	0.28207	0.0:1.0:0.0:0.0	19.847	0.96710	608	0.67185	.;.	.	.	.	.	.	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	0.007553	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.034091	0.05	2361.43	34	chr7	128842905	.	C	T	2361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=543;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.267;SOR=0.64	GT:AD:DP:GQ:PL	0/1:104,101:205:99:2373,0,2330	9	0	1	0
chr7	128885215	128885215	G	T	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon27:c.C2922A:p.D974E	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894137518	2.074e-05	1.984e-05	1.693e-05	2.465e-05	0.0002	1.455e-05	1.258e-05	1.335e-05	1.14e-05	0	0	0	0	0	0.0002	2.039e-05	0.0001	0	2.627e-05	2.627e-05	5.137e-05	0	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	0.618	0.07493	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	0.06737855	0.09379	T	.	.	.	.	.	.	.	0.198526703765	0.19489	0.5698100833882959	0.56909	.	.	0.279413074255	0.07411	T	0.020302	0.16009	T	-0.0459065	0.45065	T	-0.288232	0.45955	T	.	.	.	0.671533	0.28847	T	0.03053909	0.02734	0.09825641	0.23419	0.03053909	0.02733	0.09825641	0.23418	-6.838	0.52841	T	.	.	0.151	0.39647	B	.;.;.	.;.;.	1.747788	0.22237	15.54	0.74890959930677725	0.10866	0.14296	0.18328	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999649350872502	0.41316	0.067872	0.01466	2	0.116231	0.03378	0	0.099915	0.03048	0	0.079188	0.02158	0	0.0572876	0.13648	5.06	-0.774	0.10437	0.281000	0.18568	1.163000	0.24567	0.665000	0.62972	0.337000	0.25649	0.994000	0.32194	0.354000	0.25750	0.223:0.164:0.2786:0.3344	0.374	0.00358	554	0.71839	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1437.43	40	chr7	128885215	.	G	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.4;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.815;SOR=0.641	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1449,0,1005	9	0	1	0
chr7	128891726	128891726	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon17:c.C1715T:p.A572V,KCP:NM_199349:exon17:c.C1715T:p.A572V	.	394	1112	15	1	0	17	0.0075859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0113818	0.0044	0	0	0	0	0.0005	0	0.0764	0.0010996	170	154602	rs372463038	0.0023	0.0022	0.0014	0.0031	0.0399	0.0022	0.0022	0.0386	0.0381	0.0004	0.0006	0.0004	5.856e-05	4.599e-05	0.0006	0.0002	0.0032	0.0399	0.0014	0.0015	0.0007	0.0022	0.0386	0.0013	0.0012	0.0341	0.0323	0.0003	0	0.0003	0.0009	0.0004	9.418e-05	0	0.0002	0	0.0386	.	.	.	0.96	0.02548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0020279884	0.00029	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.07746613131127543	0.07682	.	.	0.386530011892	0.23179	T	0.001831	0.13584	T	-0.412221	0.01921	T	-0.330595	0.41403	T	.	.	.	0.609039	0.26417	T	0.028721679	0.02252	0.12166932	0.29356	0.028721679	0.02252	0.12166932	0.29355	-5.772	0.44330	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.089865	0.14734	11.28	0.85936422183728112	0.16207	0.03648	0.08900	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990920462793359	0.32314	0.206829	0.04106	0	0.096583	0.02683	0	0.209056	0.04548	0	0.109499	0.03221	0	0.0549606	0.12632	4.96	1.09	0.19517	0.538000	0.22869	4.418000	0.43305	-0.712000	0.03928	0.001000	0.13787	1.000000	0.68203	0.318000	0.24924	0.4436:0.0:0.5564:0.0	7.155	0.24808	545	0.72614	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005636	0.005208	0.000000	0.000000	0.000000	0.016667	0.008475	0.021429	0.05	979.43	40	chr7	128891726	.	G	A	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.449;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.116;SOR=0.635	GT:AD:DP:GQ:PL	0/1:30,40:70:99:991,0,744	9	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.05	1353.43	38	chr7	128893261	.	G	A	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.773;DP=424;ExcessHet=0;FS=5.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-2.158;SOR=0.329	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1365,0,1055	9	0	1	0
chr7	128893821	128893821	A	G	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon11:c.T1084C:p.C362R,KCP:NM_199349:exon11:c.T1084C:p.C362R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0012	0	0	0	0	0	0	0.0026	0.0001552	24	154602	rs550360955	0.0002	0.0002	9.734e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	2.798e-05	0	0	9.268e-07	0.0002	0.0027	5.252e-05	5.249e-05	5.139e-05	5.37e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	0.056	0.62352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.832	0.87699	.	.	.	.	.	.	.	0.114982516	0.21650	T	.	.	.	.	.	.	.	0.279776271856	0.27574	0.999049867477204	0.99903	.	.	0.72010654211	0.70062	T	0.355717	0.73312	T	0.256295	0.79186	D	0.589826	0.96880	D	.	.	.	0.871513	0.57764	D	0.7744496	0.82315	0.8030727	0.88463	0.7744496	0.82317	0.8030727	0.88464	-13.983	0.93001	D	.	.	0.805	0.80271	P	.;.;.	.;.;.	4.991111	0.82740	27.9	0.89607793413949033	0.18944	0.89438	0.49903	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999925632719	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.099915	0.03048	0	0.058706	0.01089	0	0.760175	0.45091	3.95	3.95	0.44952	3.772000	0.55034	10.373000	0.83308	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	11.389	0.49043	537	0.73184	VWFC domain|VWFC domain|VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain|VWFC domain|VWFC 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	.	.	.	.	.	.	.	.	0.05	489.43	34	chr7	128893821	.	A	G	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.899;DP=362;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.136;SOR=0.483	GT:AD:DP:GQ:PL	0/1:23,22:45:99:501,0,581	9	0	1	0
chr7	142885528	142885528	C	G	exonic	TRPV6	.	nonsynonymous SNV	TRPV6:NM_018646:exon1:c.G109C:p.A37P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.970444	0.25704	N	.	.	.	.	.	.	.	.	.	0.245	0.27673	.	.	.	.	.	.	.	0.21321404	0.37806	T	.	.	.	.	.	.	.	.	.	0.2620386865264447	0.26116	.	.	.	.	.	0.201496	0.55939	T	.	.	.	.	.	.	.	.	.	0.442956	0.12306	T	0.13981682	0.32284	0.27428186	0.53355	0.13981682	0.32283	0.27428186	0.53354	-3.069	0.10943	T	.	.	0.069	0.03060	B	.;.	.;.	3.311986	0.45517	22.1	0.88340736356804628	0.17900	0.17499	0.19863	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999816819840317	0.43459	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.062806	0.01542	0	0.319068	0.35395	3.42	1.49	0.21966	1.104000	0.30687	.	.	0.570000	0.28895	0.719000	0.28811	0.000000	0.08366	0.998000	0.85391	0.2336:0.6361:0.0:0.1303	3.962	0.08911	705	0.57330	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.43	35	chr7	142885528	.	C	G	52.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.054;DP=502;ExcessHet=0;FS=69.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=2.57;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,16:73:64:0|1:142885528_C_G:64,0,1852:142885528	9	0	1	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	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	0.005539	0.010101	0.002717	0.005848	0.050000	0.017241	0.003049	0.011364	0.05	1511.43	36	chr7	143398373	.	C	T	1511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.481;DP=498;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.32;SOR=0.794	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1523,0,1684	9	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	803.53	120	chr7	143478290	.	A	G	803.53	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.814;DP=831;ExcessHet=4.5998;FS=159.303;InbreedingCoeff=-0.3902;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.371;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,18:81:99:0|1:143478290_A_G:138,0,2004:143478290	4	0	6	0
chr7	143511171	143511171	A	C	exonic	OR10AC1	.	nonsynonymous SNV	OR10AC1:NM_001348289:exon2:c.T740G:p.L247W	.	867	652	2	1	0	4	0.0030581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0096	0	0	0	0	0	0	0.0001811	28	154602	rs555229480	0.0008	0.0006	0.0008	0.0008	0.0015	0.0007	0.0007	0.0009	0.0009	0.0003	0.0007	0	0	0.0001	0	0.0011	0.0006	0.0015	0.0006	0.0006	0.0006	0.0006	0.0023	0.0005	0.0004	0.0013	0.0010	0.0003	0	0.0002	0	0	0	0	0.0009	0.0005	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	.	.	.	.	.	.	.	.	0.05	836.43	33	chr7	143511171	.	A	C	836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.906;DP=550;ExcessHet=0;FS=4.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.276;SOR=0.982	GT:AD:DP:GQ:PL	0/1:33,34:67:99:848,0,793	9	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	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:237,51:288:99:445,0,8627	4	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2	150.59	48	chr7	152235831	.	C	G	150.59	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.331;DP=743;ExcessHet=1.5895;FS=9.184;InbreedingCoeff=-0.2504;MLEAC=4;MLEAF=0.2;MQ=51.86;MQRankSum=-2.17;QD=0.55;ReadPosRankSum=-0.963;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,7:58:41:.:.:41,0,1965:.	6	0	4	0
chr8	1780551	1780551	G	A	exonic	CLN8	.	nonsynonymous SNV	CLN8:NM_018941:exon3:c.G845A:p.R282Q	Ceroid lipofuscinosis, neuronal, 8, Autosomal recessive;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	407358	not_provided|Neuronal_ceroid_lipofuscinosis|Neuronal_ceroid_lipofuscinosis_8	MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0010830,MedGen:C1838570,OMIM:600143,Orphanet:168491,Orphanet:228354,Orphanet:79264	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.106327361735	.	.	8.336e-06	0	8.675e-05	0	0	0	0	0	6.5e-06	1	154602	rs766172825	1.095e-05	1.094e-05	8.168e-06	1.375e-05	0.0001	6.48e-06	5.24e-06	5.395e-05	4.042e-05	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	3.312e-05	0.0001	1.97e-05	1.97e-05	1.284e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	6.539e-05	0	0	0	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.919481	0.07467	N	1.054820	1	0.08975	N	-2.175	0.00131	N	-2.83	0.91249	D	0.34	0.03824	N	0.027	0.00571	-0.6797	0.61386	T	0.277	0.64885	T	10	0.019819587	0.00448	T	0.106327	0.78188	D	0.208	0.49714	0.243	0.17677	0.438701194649	0.43488	0.34708779665183737	0.34622	0.0424580993417	0.04578	0.214462831616	0.01015	T	0.100776	0.40691	T	-0.244612	0.14766	T	-0.492291	0.23150	T	0.0365639808389045	0.03079	T	.	.	.	0.024997618	0.01388	0.028864784	0.01164	0.024997618	0.01388	0.028864784	0.01164	-3.06	0.10842	T	.	.	0.059	0.00754	B	.;.;.;.;.	.;.;.;.;.	-0.077241	0.03778	0.793	0.88688427289703875	0.18175	0.00181	0.01060	N	AEFBI	0.014795	0.00251	N	-1.57353169323604	0.01402	0.06112738	-1.46862520407756	0.02606	0.1201241	0.999733326018296	0.42341	0.661447	0.50134	0	0.653731	0.59785	0	0.644132	0.48003	0	0.635551	0.53088	0	.	.	5.17	-2.02	0.06981	-0.200000	0.09480	-2.780000	0.03369	-0.733000	0.03713	0.002000	0.15269	0.000000	0.08366	0.496000	0.28927	0.4888:0.1406:0.2351:0.1356	1.255	0.01869	976	0.04745	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	543.43	34	chr8	1780551	.	G	A	543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.291;SOR=0.892	GT:AD:DP:GQ:PL	0/1:27,20:47:99:555,0,797	9	0	1	0
chr8	7332757	7332757	T	G	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.T371G:p.M124R,USP17L1:NM_001256873:exon1:c.T371G:p.M124R	.	600	921	1	0	0	1	0.000542594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.195	0.61839	M	.	.	.	.	.	.	0.594	0.61341	.	.	.	.	.	.	.	0.55083126	0.64246	D	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.29924862757181986	0.29837	.	.	0.59654968977	0.52417	T	0.022424	0.17293	T	0.0645144	0.60177	T	-0.145106	0.59673	T	.	.	.	0.860814	0.55431	D	0.3600071	0.57836	0.45657915	0.68415	0.3600071	0.57836	0.45657915	0.68415	-10.847	0.78812	D	.	.	0.167	0.36869	B	.	.	2.175218	0.27721	17.56	0.32179885857607665	0.01851	0.02274	0.06564	N	AEFI	.	.	.	.	.	.	.	.	.	1.62083320461133E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0436289	0.02737	0.781	-1.56	0.08080	0.844000	0.27307	-3.589000	0.02674	0.303000	0.18983	0.063000	0.21864	0.000000	0.08366	0.031000	0.13245	0.0:0.4971:0.0:0.5029	4.478	0.11167	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1000.43	38	chr8	7332757	.	T	G	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.97;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.43;MQRankSum=-0.956;QD=25.01;ReadPosRankSum=1.08;SOR=1.609	GT:AD:DP:GQ:PL	0/1:13,27:40:99:1012,0,401	9	0	1	0
chr8	10608031	10608031	C	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G6067T:p.V2023L	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3407602	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	.	.	.	.	.	.	.	.	0.045	0.00099139563823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.342	0.17910	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.71	0.04046	T	-0.07	0.08033	N	0.051	0.02272	-0.9573	0.39681	T	0.006	0.01870	T	9	0.0728389	0.10926	T	9.91E-4	0.01050	T	0.045	0.12272	0.298	0.26362	0.0401082797425	0.02173	0.004064410653569715	0.00381	.	.	0.257316917181	0.04577	T	.	.	.	-0.337748	0.05545	T	-0.722928	0.04656	T	0.176246064059569	0.18995	T	0.315868	0.06264	T	0.053177536	0.10025	0.09520061	0.22567	0.053177536	0.10024	0.09520061	0.22566	-7.52	0.57751	D	.	.	0.134	0.29144	B	.	.	0.072920	0.04809	1.416	0.68349518625760475	0.08631	0.04236	0.09758	N	AEFBI	0.022493	0.01131	N	-1.16133278210067	0.05595	0.2555161	-1.25145845776475	0.05109	0.2426846	7.96783097289827E-5	0.04552	0.580535	0.33130	0	0.573888	0.26702	0	0.547309	0.15389	0	0.604944	0.38103	0	.	.	1.18	1.18	0.20058	0.414000	0.20885	-0.130000	0.11629	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	8.293	0.31132	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	131	chr8	10608031	.	C	A	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.152;DP=1172;ExcessHet=0;FS=15.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.057;SOR=1.28	GT:AD:DP:GQ:PL	0/1:53,69:122:99:1711,0,1340	9	0	1	0
chr8	17210461	17210461	C	G	exonic	ZDHHC2	.	nonsynonymous SNV	ZDHHC2:NM_001362989:exon10:c.C796G:p.L266V,ZDHHC2:NM_016353:exon10:c.C931G:p.L311V,ZDHHC2:NM_001362988:exon11:c.C847G:p.L283V	.	435	1084	3	0	0	3	0.00138185	.	.	.	3492082	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0154800597249	.	.	5.019e-05	0	0	0	0	4.53e-05	0	0.0002	3.88e-05	6	154602	rs747924334	3.018e-05	3.01e-05	2.047e-05	4e-05	0.0005	2.288e-05	2.038e-05	0.0001	7.575e-05	0	0	0	0	0	0.0005	2.432e-05	6.642e-05	0.0001	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.515	0.07378	T	0.603	0.07868	T	0.131	0.27154	B	0.039	0.23607	B	0.164934	0.17547	N	0.520458	0.946733	0.26622	N	1.61	0.41143	L	0.96	0.42888	T	-0.9	0.24244	N	0.363	0.40465	-1.0441	0.16089	T	0.068	0.27980	T	10	0.06962973	0.10019	T	0.01548	0.36235	T	0.021	0.04004	0.141	0.04462	0.27855597813	0.27464	0.24435917083279476	0.24349	0.0221242798696	0.02218	0.453134655952	0.32372	T	0.009998	0.09062	T	-0.349529	0.04756	T	-0.534345	0.18854	T	0.0276433285325766	0.01636	T	0.818818	0.47619	T	0.06032472	0.12366	0.029285012	0.01249	0.06032472	0.12365	0.029285012	0.01249	-4.484	0.30679	T	.	.	0.063	0.01491	B	.	.	1.195006	0.15865	12.16	0.94080585512572557	0.24229	0.87633	0.47237	D	AEFBI	0.205854	0.33217	N	-0.462310311367204	0.23325	1.251734	-0.372932264778595	0.25807	1.421512	0.36297931483761	0.19795	0.741868	0.97996	0	0.709663	0.81188	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.42	2.47	0.29113	1.786000	0.38326	0.530000	0.19240	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.798000	0.37648	0.0:0.6673:0.1462:0.1865	6.932	0.23628	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	567.43	35	chr8	17210461	.	C	G	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.542;DP=368;ExcessHet=0;FS=3.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-2.258;SOR=1.229	GT:AD:DP:GQ:PL	0/1:37,27:64:99:579,0,834	9	0	1	0
chr8	18084701	18084701	A	G	exonic	ASAH1	.	nonsynonymous SNV	ASAH1:NM_001127505:exon1:c.T101C:p.F34S,ASAH1:NM_004315:exon1:c.T101C:p.F34S	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	2231401	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0113706205888	0.0002	.	0.0004	0	0	0	0	0.0006	0.0011	0.0003	0.000304	47	154602	rs142924828	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0003	0.0015	0.0012	0	6.714e-05	0	0	5.619e-05	0.0024	0.0004	0.0005	0.0003	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	2.406e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0004	0.237	0.22224	T	0.036	0.53072	D	0.002	0.09854	B	0.001	0.04355	B	0.000000	0.00162	N	22.581200	1	0.08975	N	.	.	.	-0.4	0.70133	T	0.27	0.04306	N	0.109	0.09490	-0.9545	0.40185	T	0.152	0.48049	T	10	0.036254436	0.01914	T	0.011371	0.28926	T	0.171	0.43483	.	.	0.104622674875	0.10061	0.3581652580872259	0.35730	0.00220502495395	0.00188	0.278205573559	0.07244	T	0.006271	0.17060	T	-0.418274	0.01754	T	-0.484565	0.23962	T	0.0414029310413511	0.03945	T	0.633137	0.25428	T	.	.	.	.	.	.	.	.	-3.95	0.23053	T	.	.	0.109	0.75617	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.305304	0.06806	3.330	0.85606809834419684	0.15998	0.07508	0.13522	N	ALL	0.038479	0.05452	N	-1.53651090320072	0.01615	0.07059758	-1.64161946922401	0.01420	0.06419315	0.99999999265446	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.24	-4.49	0.03257	-0.288000	0.08412	-0.066000	0.12360	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2539:0.1912:0.5549:0.0	6.079	0.19156	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	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1223.43	33	chr8	18084701	.	A	G	1223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=430;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.162;SOR=0.611	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1235,0,1040	9	0	1	0
chr8	33496718	33496720	GAT	-	exonic	MAK16	.	nonframeshift deletion	MAK16:NM_032509:exon8:c.616_618del:p.D211del	.	0	204	20	0	2	22	0.046729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	.	0.0047	0.0014	0.0012	0.0001	0.0031	0.0070	0.0026	0.0030	0.0008837	23	26028	rs770037838	0.0062	0.0067	0.0061	0.0062	0.0071	0.0060	0.0060	0.0070	0.0069	0.0009	0.0024	0.0103	0.0002	0.0017	0.0038	0.0071	0.0048	0.0029	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0012	0.0164	0.0030	0.0104	0.0004	0.0008	0.0102	0.0067	0.0019	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2000.09	35	chr8	33496717	.	AGAT	A	2000.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.238;DP=535;ExcessHet=0.2348;FS=4.452;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.29;SOR=0.45	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1591,0,2325	9	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	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	.	.	.	.	.	.	.	.	0.2	243.53	33	chr8	39963621	.	A	G	243.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.434;DP=958;ExcessHet=1.5895;FS=106.457;InbreedingCoeff=-0.2469;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.423;SOR=10.175	GT:AD:DP:GQ:PL	0/1:100,38:138:99:110,0,1631	6	0	4	0
chr8	56113076	56113076	C	T	exonic	MOS	.	nonsynonymous SNV	MOS:NM_005372:exon1:c.G907A:p.V303I	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.166432363896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.258	0.23164	T	0.393	0.34680	B	0.04	0.23831	B	0.481456	0.12161	N	0.748873	0.723432	0.29900	N	0.255	0.09829	N	-3.2	0.93231	D	-0.25	0.11008	N	0.08	0.05542	0.003	0.82317	D	0.558	0.83892	D	10	0.15153506	0.28642	T	0.166432	0.84505	D	0.223	0.52023	0.382	0.39970	0.855073350395	0.85367	0.38639516264321566	0.38554	0.808570310498	0.66628	0.333979547024	0.15534	T	0.114425	0.43222	T	-0.0919985	0.37746	T	-0.369926	0.36897	T	0.231727442061709	0.22033	T	0.782722	0.41876	T	0.04885152	0.08579	0.08745334	0.20328	0.04885152	0.08579	0.08745334	0.20328	-4.323	0.28498	T	.	.	0.078	0.06849	B	.	.	1.813263	0.23040	15.86	0.97829904777381871	0.36252	0.80914	0.40433	D	AEFDBHI	0.117330	0.22989	N	-0.385551619772897	0.25983	1.414628	-0.300939582638805	0.28068	1.56213	0.992496490337967	0.32860	0.59774	0.34471	0	0.563428	0.19063	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	5.8	4.01	0.45821	1.137000	0.31091	1.770000	0.28626	0.599000	0.40250	0.562000	0.27441	0.928000	0.28476	0.010000	0.09038	0.0:0.7857:0.0:0.2143	9.756	0.39670	917	0.20147	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1241.43	34	chr8	56113076	.	C	T	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.409;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.63;SOR=0.667	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1253,0,1099	9	0	1	0
chr8	60795012	60795012	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon4:c.G2123A:p.S708N	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1521	1	0	0	1	0.000328623	.	.	.	1643000	Inborn_genetic_diseases|CHARGE_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0494275274786	.	.	5.002e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs753687437	1.916e-05	1.915e-05	1.362e-05	2.476e-05	0.0003	1.329e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.15354	T	0.473	0.12142	T	0.0	0.02946	B	0.001	0.04355	B	0.000183	0.48115	D	0.000000	0.861449	0.81001	D	-0.41	0.02942	N	-1.49	0.81235	T	-0.8	0.27463	N	0.238	0.26837	-0.6084	0.64470	T	0.295	0.66678	T	10	0.09759441	0.17586	T	0.049428	0.63806	D	0.208	0.49714	0.21	0.12781	0.646149302783	0.64322	0.16035415299834116	0.15956	0.0962467611548	0.10862	0.580534934998	0.50161	T	0.141439	0.47650	T	-0.322322	0.06709	T	-0.390251	0.34521	T	0.0930522037116077	0.11575	T	0.624238	0.25202	T	0.1342325	0.31194	0.11072505	0.26702	0.1342325	0.31194	0.11072505	0.26701	-5.103	0.37939	T	0.22091985465942665	0.29787	0.097	0.15832	B	.;.	.;.	2.679874	0.34960	19.77	0.94592857966351751	0.25145	0.87790	0.47451	D	AEFGBI	0.183560	0.31088	N	-0.147434274910624	0.35344	2.028912	0.0743415709297732	0.43262	2.631692	0.999971234459907	0.50053	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	2.217000	0.42521	6.659000	0.56241	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0728:0.0:0.9272:0.0	13.923	0.63448	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	402.43	34	chr8	60795012	.	G	A	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.973;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=1.48;SOR=0.688	GT:AD:DP:GQ:PL	0/1:38,19:57:99:414,0,905	9	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	140.16	39	chr8	67267206	.	T	G	140.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.544;DP=727;ExcessHet=0.2348;FS=291.052;InbreedingCoeff=-0.3374;MLEAC=3;MLEAF=0.375;MQ=59.95;MQRankSum=0;QD=1.01;ReadPosRankSum=2.15;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,21:77:27:.:.:27,0,834:.	2	0	2	6
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	89.52	23	chr8	67299229	.	C	T	89.52	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.553;DP=150;ExcessHet=0.8432;FS=83.804;InbreedingCoeff=-0.3031;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.49;SOR=6.271	GT:AD:DP:GQ:PL	0/1:12,6:18:32:32,0,175	5	0	3	2
chr8	90645796	90645796	G	A	exonic	TMEM64	.	nonsynonymous SNV	TMEM64:NM_001008495:exon1:c.C110T:p.A37V,TMEM64:NM_001146273:exon1:c.C110T:p.A37V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.189341423033	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338456085	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.46129	D	0.081	0.41742	T	0.034	0.20480	B	0.003	0.08700	B	0.781726	0.09466	U	0.858235	1	0.81001	D	0.895	0.22405	L	.	.	.	-0.37	0.13226	N	0.041	0.01498	-1.0065	0.28004	T	0.070	0.28740	T	9	0.094139844	0.16715	T	0.189341	0.86057	D	0.058	0.16647	0.13	0.03494	0.0297737177859	0.01360	0.2636008175918245	0.26273	1.69393018252	0.90178	0.836562514305	0.87570	D	0.011938	0.10575	T	-0.0838151	0.39092	T	-0.358171	0.38263	T	0.186152171711834	0.19615	T	0.464953	0.13579	T	0.10106624	0.23869	0.19071323	0.42489	0.10106624	0.23869	0.19071323	0.42488	-5.236	0.40366	T	.	.	0.127	0.27313	B	.;.	.;.	1.131159	0.15179	11.65	0.99317382390405595	0.59241	0.09507	0.15247	N	ALL	0.067105	0.13174	N	-0.877480206419568	0.11380	0.5488562	-0.88822155726126	0.12372	0.6360523	0.99999999948597	0.74766	0.006267	0.00052	3	0.166054	0.03914	2	0.47417	0.07244	0	0.56214	0.19341	0	.	.	2.9	0.641	0.16930	0.173000	0.16538	0.576000	0.19656	0.342000	0.19800	0.000000	0.06391	0.005000	0.19230	0.094000	0.17991	0.0:0.3464:0.6536:0.0	11.401	0.49114	843	0.36859	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	36.85	.	chr8	90645796	.	G	A	36.85	.	AC=2;AF=0.167;AN=12;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.43;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	0	4
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.15	2618.45	35	chr8	97930977	.	C	T	2618.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.945;DP=436;ExcessHet=0.7463;FS=3.526;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.489;SOR=0.957	GT:AD:DP:GQ:PL	0/1:27,29:56:99:815,0,735	7	0	3	0
chr8	99507844	99507844	G	A	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon28:c.G4232A:p.R1411H	Cohen syndrome, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	1199777	Cohen_syndrome	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0176064570398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	5.472e-06	4.084e-06	5.501e-06	0.0002	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	2.319e-05	6.574e-06	6.568e-06	0	1.346e-05	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	0.211	0.19569	T	0.17	0.30436	T	0.997	0.70673	D	0.745	0.55870	P	0.000039	0.55875	D	0.121672	0.99991	0.81001	D	1.67	0.42885	L	0.88	0.46028	T	-0.78	0.21644	N	0.368	0.40963	-0.9616	0.38877	T	0.160	0.49397	T	10	0.35104582	0.51963	T	0.017606	0.39377	T	0.172	0.43662	0.434	0.48500	0.664903063441	0.66208	0.2836232957759583	0.28275	0.213654222059	0.23881	0.686697244644	0.65230	T	0.101973	0.40924	T	-0.0607704	0.42788	T	-0.325069	0.42016	T	0.884189009666443	0.53441	D	0.873813	0.58316	D	0.109813355	0.25960	0.0921764	0.21709	0.109813355	0.25960	0.0921764	0.21708	-5.774	0.44347	T	.	.	0.184	0.39915	B	.	.	3.550365	0.49907	22.9	0.99405777412432172	0.63028	0.98808	0.87122	D	AEFI	0.858382	0.77590	D	0.62930541299146	0.75034	6.235435	0.685117076158109	0.81248	7.482657	0.999999999979106	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.64	5.64	0.86480	7.799000	0.84507	8.590000	0.77683	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.678	0.95940	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	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1852.43	37	chr8	99507844	.	G	A	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.368;DP=517;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-1.492;SOR=0.623	GT:AD:DP:GQ:PL	0/1:110,83:193:99:1864,0,2536	9	0	1	0
chr8	99642196	99642196	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon34:c.C5681T:p.T1894M,VPS13B:NM_152564:exon34:c.C5606T:p.T1869M	Cohen syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	194079	Cohen_syndrome|not_specified|VPS13B-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0180721367835	0.0012	0.000199681	0.0010	0.0003	0.0003	0.0001	0.0014	0.0012	0.0022	0.0014	0.0009832	152	154602	rs117148013	0.0010	0.0010	0.0010	0.0010	0.0018	0.0010	0.0009	0.0016	0.0015	0.0001	0.0002	0	0	0.0015	0.0007	0.0011	0.0006	0.0018	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0006	0.0008	0.0008	0.0003	0.0011	0.0010	0	0	0.0011	0	0.0010	0.0009	0.0017	0.301	0.15201	T	0.092	0.40110	T	0.013	0.16609	B	0.006	0.12133	B	0.174660	0.17273	N	0.595004	1	0.08975	N	0.145	0.08828	N	-0.37	0.68892	T	-1.02	0.26843	N	0.184	0.19995	-1.0162	0.24948	T	0.098	0.36677	T	10	0.00742206	0.00169	T	0.018072	0.40007	T	0.041	0.10877	.	.	0.38225645794	0.37833	0.30762182965654516	0.30675	0.127663395425	0.14390	0.183794051409	0.00134	T	0.085251	0.37460	T	-0.550955	0.00288	T	-0.5832	0.14261	T	0.0013656374117942	0.00014	T	0.765223	0.39806	T	0.023908423	0.01173	0.040248606	0.04306	0.023908423	0.01172	0.040248606	0.04306	-4.625	0.32990	T	0.18284733410187126	0.23643	0.071	0.04119	B	.;.	.;.	1.196709	0.15883	12.17	0.88287361633611161	0.17859	0.03864	0.09226	N	AEFBI	0.039525	0.05754	N	-1.02705123661066	0.08045	0.3758626	-0.989543189689987	0.10019	0.5020192	0.0775704411734447	0.15762	0.608746	0.35421	0	0.653731	0.59785	0	0.731467	0.93227	0	0.615788	0.45269	1	.	.	5.6	-1.2	0.09062	0.356000	0.19918	0.882000	0.22403	0.599000	0.40250	0.000000	0.06391	0.372000	0.24573	0.633000	0.32236	0.1194:0.5928:0.0:0.2878	7.332	0.25764	417	0.81662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1835.43	33	chr8	99642196	.	C	T	1835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.864;DP=454;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.704;SOR=0.812	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1847,0,1670	9	0	1	0
chr8	99699894	99699894	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon36:c.A6491G:p.N2164S,VPS13B:NM_152564:exon36:c.A6416G:p.N2139S	Cohen syndrome, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	194146	Cohen_syndrome|not_specified|VPS13B-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.061	0.011994965682	0.0012	0.000399361	0.0010	0.0003	0.0003	0	0.0014	0.0012	0.0023	0.0014	0.0009896	153	154602	rs142248228	0.0009	0.0009	0.0009	0.0010	0.0018	0.0009	0.0009	0.0015	0.0014	0.0001	0.0002	0	0	0.0015	0.0007	0.0010	0.0005	0.0018	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0006	0.0008	0.0007	0.0003	0.0011	0.0003	0	0	0.0011	0	0.0010	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.993812	0.07920	N	1.002150	1	0.08975	N	-0.97	0.01230	N	-0.23	0.66652	T	-0.17	0.09627	N	0.073	0.04668	-0.9503	0.40920	T	0.093	0.35363	T	10	0.007905126	0.00179	T	0.011995	0.30154	T	0.061	0.17616	.	.	0.27855597813	0.27464	0.07494676186931658	0.07430	0.0961029939832	0.10848	0.254970133305	0.04310	T	0.044105	0.26711	T	-0.61914	0.00111	T	-0.686755	0.06578	T	0.0115930854782147	0.00176	T	0.637336	0.25103	T	0.032485086	0.03282	0.036429185	0.03089	0.032485086	0.03281	0.036429185	0.03089	-2.323	0.04711	T	0.07698980584876687	0.03566	0.055	0.00405	B	.;.	.;.	-2.439188	0.00037	0.001	0.6577628836012267	0.07868	0.01077	0.03980	N	AEFDBI	0.022743	0.01175	N	-1.61872735229058	0.01174	0.05102497	-1.61225262709172	0.01583	0.07175834	0.999999705142644	0.74766	0.693126	0.56070	0	0.633656	0.55848	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.85	-7.68	0.01129	-2.023000	0.01525	-7.939000	0.01058	-0.554000	0.04884	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.6375:0.0911:0.2714:0.0	11.433	0.49293	434	0.80536	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	608.43	41	chr8	99699894	.	A	G	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.274;DP=394;ExcessHet=0;FS=0.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.839;SOR=0.901	GT:AD:DP:GQ:PL	0/1:48,31:79:99:620,0,1128	9	0	1	0
chr8	120451294	120451294	A	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon4:c.A397T:p.N133Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0170271757221	.	0.00119808	0.0006	0	8.667e-05	0	0	1.504e-05	0.0011	0.0041	0.0004981	77	154602	rs566600503	0.0003	0.0003	0.0001	0.0004	0.0047	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0047	8.998e-06	0.0002	0.0039	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.506e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.003	0.68238	D	0.01	0.65728	D	0.977	0.58535	D	0.803	0.58300	P	0.000025	0.55875	D	0.151389	0.976164	0.39252	D	2.595	0.75868	M	.	.	.	-3.5	0.68178	D	0.485	0.51940	-0.3633	0.73165	T	0.335	0.70174	T	9	0.008321643	0.00189	T	0.017027	0.38558	T	0.189	0.46613	0.19	0.10039	0.540879910095	0.53741	0.21687305361920275	0.21603	0.21605900711	0.24131	0.445549696684	0.31336	T	0.458825	0.79665	T	-0.287859	0.09852	T	-0.187739	0.55802	T	0.208607797549322	0.20880	T	0.79872	0.44372	T	0.41912085	0.62033	0.4373068	0.67154	0.41912085	0.62033	0.4373068	0.67154	-4.516	0.31097	T	.	.	0.140	0.30739	B	.	.	3.591748	0.50690	23.0	0.99396767965558863	0.62610	0.95971	0.66952	D	AEFGBI	0.227478	0.35128	N	0.437241705089528	0.63482	4.582911	0.380868145923304	0.60387	4.225574	0.999944125269382	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.48	4.3	0.50540	3.450000	0.52720	4.516000	0.43668	0.743000	0.86499	0.942000	0.32722	0.217000	0.23687	0.998000	0.85391	0.8475:0.1525:0.0:0.0	11.31	0.48594	657	0.62240	MDM2-binding protein, N-terminal 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	.	.	.	.	.	.	.	.	0.05	809.43	38	chr8	120451294	.	A	T	809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.693;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.723;SOR=0.833	GT:AD:DP:GQ:PL	0/1:23,36:59:99:821,0,537	9	0	1	0
chr8	132804005	132804005	G	A	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616A:p.D206N,PHF20L1:NM_001362971:exon6:c.G616A:p.D206N,PHF20L1:NM_198513:exon6:c.G616A:p.D206N,PHF20L1:NM_016018:exon7:c.G694A:p.D232N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0115266637685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.453	0.35455	T	0.372	0.34134	B	0.312	0.41466	B	0.142512	0.18241	N	0.607210	0.952252	0.81001	D	0	0.06538	N	0.85	0.47477	T	-1.07	0.31375	N	0.176	0.25377	-0.9728	0.36605	T	0.101	0.37443	T	10	0.12235302	0.23210	T	0.011527	0.29247	T	0.063	0.18251	0.171	0.07655	0.258436476835	0.25460	0.24866410637430061	0.24780	0.547561883492	0.51719	0.349470287561	0.17844	T	0.058701	0.30914	T	-0.218933	0.18139	T	-0.552259	0.17110	T	0.765105339381629	0.44148	D	0.892711	0.64723	D	0.14623536	0.33486	0.1307911	0.31420	0.14623536	0.33485	0.1307911	0.31419	-4.126	0.34812	T	.	.	0.091	0.19958	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.256382	0.64649	24.7	0.99797584564061348	0.88283	0.98592	0.84463	D	AEFDBI	0.820892	0.74158	D	0.0167741354743622	0.42618	2.571282	0.245113666878269	0.52371	3.412443	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	.	.	.	.	.	.	.	.	0.1429	65.3	41	chr8	132804005	.	G	A	65.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.673;DP=504;ExcessHet=0.2348;FS=195.153;InbreedingCoeff=-0.1933;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.016;SOR=8.121	GT:AD:DP:GQ:PL	0/1:41,10:51:3:3,0,780	5	0	2	3
chr8	138178624	138178624	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon10:c.A940G:p.M314V,FAM135B:NM_015912:exon10:c.A940G:p.M314V	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0400305422329	8e-05	0.000599042	0.0003	0	8.648e-05	0	0	0.0002	0.0033	0.0015	0.0002781	43	154602	rs199559305	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	0	0.0002	0.0020	0	0	0.0014	5.935e-05	0.0004	0.0020	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.406e-05	0	0.0002	0.0017	0	0	0	0.0002	0	0.0012	0.053	0.38863	T	0.004	0.74150	D	0.005	0.12996	B	0.016	0.17743	B	0.000166	0.48594	D	0.085246	0.998089	0.22359	N	0	0.06538	N	-1.18	0.78314	T	-0.94	0.25118	N	0.186	0.20262	-0.9333	0.43650	T	0.188	0.53827	T	10	0.012443334	0.00267	T	0.040031	0.59144	D	0.215	0.50805	.	.	0.182106788282	0.17826	0.17379782243038763	0.17299	0.0666082781668	0.07428	0.318082988262	0.13130	T	0.060432	0.31385	T	-0.389973	0.02691	T	-0.33973	0.40375	T	0.016590693078851	0.00420	T	0.570043	0.20293	T	0.13456854	0.31261	0.15495744	0.36344	0.13456854	0.31261	0.15495744	0.36344	-3.75	0.20059	T	.	.	0.092	0.13456	B	.	.	1.567077	0.20069	14.57	0.7770473047460561	0.11988	0.61263	0.31434	D	AEFDGHCI	0.404940	0.47802	N	-0.725971132987812	0.15293	0.7695141	-0.57881170255259	0.20047	1.078285	0.161928877157649	0.17606	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.26	2.45	0.28953	3.426000	0.52545	2.591000	0.33468	-0.203000	0.08628	1.000000	0.71638	1.000000	0.68203	0.216000	0.22352	0.1642:0.0:0.6819:0.154	6.338	0.20513	961	0.08552	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1281.43	34	chr8	138178624	.	T	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.076;DP=450;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.416;SOR=0.758	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1293,0,1390	9	0	1	0
chr8	143650149	143650149	A	G	exonic	ZNF623	.	nonsynonymous SNV	ZNF623:NM_014789:exon1:c.A277G:p.T93A,ZNF623:NM_001082480:exon2:c.A157G:p.T53A,ZNF623:NM_001261843:exon2:c.A157G:p.T53A	.	414	1089	18	1	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0057502112798	0.0020	0.00159744	0.0036	0.0005	0.0012	0	0.0062	0.0039	0.0011	0.0067	0.0034928	540	154602	rs141901810	0.0048	0.0048	0.0047	0.0049	0.0092	0.0047	0.0047	0.0072	0.0070	0.0006	0.0017	0.0002	2.519e-05	0.0044	0.0092	0.0051	0.0042	0.0077	0.0028	0.0028	0.0028	0.0028	0.0043	0.0026	0.0025	0.0039	0.0038	0.0005	0.0011	0.0024	0.0003	0	0.0046	0	0.0043	0.0019	0.0043	0.062	0.37966	T	0.026	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.994708	0.23461	N	.	.	.	2.47	0.14783	T	-0.44	0.15178	N	0.044	0.02559	-0.9976	0.30590	T	0.032	0.13592	T	9	0.003913492	0.00075	T	0.00575	0.14922	T	0.080	0.23350	.	.	0.332646915603	0.32870	0.048393935203371874	0.04782	0.274352490652	0.29928	0.275649279356	0.06894	T	0.009832	0.08919	T	-0.687114	0.00044	T	-0.755623	0.03272	T	0.00154676861957796	0.00016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.;.;.	.;.;.	0.394799	0.07661	4.332	0.94362907156118903	0.24721	0.03267	0.08303	N	AEFBCI	0.117611	0.23033	N	-0.770492492523635	0.14084	0.698707	-0.804064001623287	0.14397	0.7520479	0.0636998290362513	0.15304	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.35	-1.26	0.08892	0.167000	0.16419	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.452000	0.27939	0.6286:0.1525:0.2189:0.0	5.246	0.14813	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.021341	0.015152	0.1	3057.14	37	chr8	143650149	.	A	G	3057.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.966;DP=663;ExcessHet=0.2348;FS=1.37;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.69;SOR=0.597	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1502,0,2057	8	0	2	0
chr8	143872595	143872595	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G659A:p.R220H	.	9	1503	10	0	0	10	0.00331565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0173899213941	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0004	0	0.0005	0.0002717	42	154602	rs200639583	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	8.964e-05	0.0001	0	2.521e-05	5.947e-05	0.0019	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.214e-05	0	6.53e-05	0	0.0002	9.409e-05	0	0.0004	0.0005	0.0010	.	.	.	0.172	0.30339	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.084	0.07262	-0.9614	0.38916	T	0.082	0.32178	T	9	0.020181328	0.00461	T	0.01739	0.39069	T	.	.	.	.	0.223847106136	0.22009	0.3200289533245384	0.31915	.	.	0.320281237364	0.13464	T	0.063482	0.32186	T	-0.547072	0.00304	T	-0.666123	0.07859	T	0.0127068060179515	0.00214	T	0.512749	0.16428	T	0.021439288	0.00746	0.023155311	0.00331	0.021439288	0.00746	0.023155311	0.00331	-6.008	0.46347	T	.	.	0.1	0.17146	B	.;.	.;.	-0.459624	0.02000	0.177	0.90786543797431174	0.20035	0.01608	0.05209	N	AEFDBCI	0.035299	0.04519	N	-1.40890633327884	0.02560	0.1131995	-1.61574395645006	0.01562	0.0708171	0.999999995869454	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.14	-8.27	0.00892	-1.576000	0.02233	.	.	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1957:0.1941:0.3928:0.2174	1.963	0.03185	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.1	2935.14	59	chr8	143872595	.	C	T	2935.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.41;DP=685;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.748;SOR=0.717	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1341,0,1255	8	0	2	0
chr8	143935300	143935300	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon7:c.G574A:p.D192N,PLEC:NM_201379:exon7:c.G550A:p.D184N,PLEC:NM_201380:exon7:c.G1027A:p.D343N,PLEC:NM_201381:exon7:c.G520A:p.D174N,PLEC:NM_201382:exon7:c.G616A:p.D206N,PLEC:NM_201383:exon7:c.G628A:p.D210N,PLEC:NM_201384:exon7:c.G616A:p.D206N,PLEC:NM_000445:exon8:c.G697A:p.D233N	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.670105219623	.	.	1.833e-05	0	0.0002	0	0	0	0	0	3.84e-05	1	26028	rs782145745	6.884e-06	9.577e-06	1.233e-05	1.383e-06	8.954e-05	3.48e-06	2.54e-06	2.987e-05	1.806e-05	0	8.954e-05	0	0	0	0	5.398e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.059	0.54683	T	0.064	0.45961	T	1.0	0.90584	D	0.932	0.70163	D	0.000237	0.47286	U	0.078523	1	0.81001	D	1.615	0.41426	L	-3.87	0.95922	D	-3.4	0.78222	D	0.728	0.74644	0.978	0.96830	D	0.892	0.96428	D	10	0.8891883	0.88257	D	0.670105	0.97246	D	0.751	0.91456	0.716	0.85141	0.765966819243	0.76383	0.5644064809462728	0.56367	.	.	0.617704987526	0.55404	T	0.617678	0.89312	D	-0.00633787	0.50778	T	-0.0492373	0.67075	D	0.898606061935425	0.55074	D	0.969903	0.89155	D	0.4722558	0.65429	0.3674723	0.62056	0.4722558	0.65430	0.3674723	0.62056	-9.443	0.71746	D	0.7163274659824871	0.79703	0.115	0.36947	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.523971	0.70963	25.6	0.99032791855913271	0.50830	0.97639	0.76082	D	AEFDGBCI	0.752797	0.69319	D	0.567599969305818	0.71161	5.608842	0.50484740344739	0.68314	5.203272	0.999999999999892	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.23	4.23	0.49319	5.951000	0.69992	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.0:1.0:0.0:0.0	15.547	0.75851	970	0.06235	.;.;.;.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;.;.;.;.;.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology 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	.	.	.	.	.	.	.	.	0.05	406.43	38	chr8	143935300	.	C	T	406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.384;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,20:44:99:418,0,572	9	0	1	0
chr8	144807638	144807638	C	G	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.C701G:p.A234G,ZNF517:NM_001384904:exon5:c.C722G:p.A241G,ZNF517:NM_213605:exon5:c.C722G:p.A241G,ZNF517:NM_001384905:exon6:c.C722G:p.A241G	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00084795732836	0.0003	0.000399361	0.0017	0	0.0006	0.0002	0.0003	0.0005	0.0059	0.0085	0.0010996	170	154602	rs145328614	0.0008	0.0008	0.0005	0.0011	0.0087	0.0008	0.0008	0.0076	0.0074	8.975e-05	0.0002	0.0015	2.524e-05	5.889e-05	0.0087	0.0003	0.0010	0.0081	0.0005	0.0005	0.0004	0.0007	0.0075	0.0004	0.0004	0.0055	0.0049	2.406e-05	0	0.0001	0.0006	0	9.418e-05	0.0068	0.0005	0.0005	0.0075	0.093	0.31532	T	0.035	0.52389	D	0.026	0.19406	B	0.026	0.20792	B	.	.	.	.	1	0.81001	D	-0.44	0.02835	N	2.13	0.19588	T	-2.48	0.54059	N	0.083	0.08088	-1.0289	0.20811	T	0.034	0.14552	T	9	0.005225897	0.00114	T	8.48E-4	0.00734	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.02932518378202898	0.02881	0.278568782868	0.30341	0.395311534405	0.24415	T	0.020404	0.16069	T	-0.57809	0.00198	T	-0.598737	0.12917	T	0.0217084522860914	0.00877	T	0.320768	0.06490	T	0.15683421	0.35371	0.16436942	0.38081	0.15683421	0.35371	0.16436942	0.38080	-5.478	0.41662	T	.	.	0.138	0.30211	B	.;.	.;.	2.431960	0.31291	18.70	0.99483157296345304	0.67014	0.01006	0.03801	N	AEFDBI	0.030302	0.03023	N	-0.464442923937653	0.23253	1.247385	-0.44975781783289	0.23556	1.285203	0.887889848489239	0.25776	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.7	2.7	0.31007	-0.193000	0.09572	-1.722000	0.04847	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.884000	0.42379	0.0:0.5886:0.4114:0.0	8.639	0.33126	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.005051	0.001359	0.008772	0.000000	0.008621	0.003125	0.011364	0.1	3603.14	35	chr8	144807638	.	C	G	3603.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=573;ExcessHet=0.2348;FS=1.413;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.71;SOR=0.782	GT:AD:DP:GQ:PL	0/1:66,80:146:99:2088,0,1619	8	0	2	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1776.96	33	chr9	117371	.	C	*	1776.96	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.714;DP=213;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=5;MLEAF=0.25;MQ=46.25;MQRankSum=-3.333;QD=10.97;ReadPosRankSum=-0.128;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,5:17:99:.:.:649,453,472:.	5	0	5	0
chr9	5769287	5769287	G	A	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001135920:exon22:c.G3455A:p.G1152E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00999244677063	.	.	8.275e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs373084735	2.668e-05	2.668e-05	2.315e-05	3.026e-05	3.148e-05	1.998e-05	1.754e-05	2.286e-05	2.023e-05	0	0	0	0	0	0	3.148e-05	6.624e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.049	0.39820	D	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	1	0.20048	N	.	.	.	.	.	.	0.89	0.01641	N	0.105	0.08925	-1.0117	0.26385	T	0.059	0.24539	T	7	0.047344953	0.04039	T	0.009992	0.25990	T	0.014	0.01968	0.328	0.31196	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.433024	0.01422	T	-0.703419	0.05641	T	0.0274934311937146	0.01615	T	0.254675	0.03932	T	.	.	.	.	.	.	.	.	-2.955	0.09705	T	.	.	0.092	0.13737	B	.	.	0.171489	0.05604	2.058	0.80049466912490164	0.13021	0.00475	0.02270	N	AEFBI	.	.	.	-1.27055826800917	0.04035	0.1813564	-1.32039856925998	0.04167	0.1959775	0.982119693844729	0.30355	0.489673	0.17934	0	0.71359	0.82159	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	3.62	0.539	0.16348	-0.254000	0.08801	.	.	-0.124000	0.13482	0.000000	0.06391	0.353000	0.24482	0.465000	0.28230	0.3312:0.0:0.6688:0.0	8.617	0.32997	457	0.78953	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1033.43	33	chr9	5769287	.	G	A	1033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=389;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.934;SOR=0.868	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1045,0,958	9	0	1	0
chr9	7011779	7011779	C	T	exonic	KDM4C	.	nonsynonymous SNV	KDM4C:NM_001304340:exon11:c.C1103T:p.T368M,KDM4C:NM_001146695:exon13:c.C1868T:p.T623M,KDM4C:NM_001146696:exon13:c.C1934T:p.T645M,KDM4C:NM_001304339:exon13:c.C1868T:p.T623M,KDM4C:NM_001353997:exon13:c.C1868T:p.T623M,KDM4C:NM_001353998:exon13:c.C1868T:p.T623M,KDM4C:NM_015061:exon13:c.C1868T:p.T623M,KDM4C:NM_001353999:exon14:c.C557T:p.T186M,KDM4C:NM_001354000:exon14:c.C557T:p.T186M,KDM4C:NM_001354001:exon14:c.C557T:p.T186M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0210769344465	7.7e-05	.	2.473e-05	9.612e-05	0	0.0001	0	1.499e-05	0	0	1.94e-05	3	154602	rs144567752	5.473e-06	5.472e-06	5.445e-06	5.5e-06	6.708e-05	2.35e-06	1.7e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	2.519e-05	1.872e-05	0	8.993e-07	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.551e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	6.551e-05	0	0	0	0	0	0	0	0.008	0.68238	D	0.079	0.72224	T	0.998	0.73220	D	0.899	0.63802	P	0.000348	0.45440	D	0.219510	0.992419	0.48635	D	2.19	0.61577	M	0.6	0.53731	T	-2.25	0.52128	N	0.515	0.56058	-0.5574	0.66503	T	0.272	0.64391	T	10	0.24996251	0.42315	T	0.021077	0.43792	T	0.174	0.44019	.	.	0.674432666684	0.67167	0.2940037913861243	0.29313	0.220091016558	0.24552	0.414732396603	0.27111	T	0.034993	0.39959	T	-0.158747	0.26954	T	-0.284278	0.46364	T	0.606042444705963	0.36641	D	0.964704	0.86917	D	0.09003283	0.21053	0.10490057	0.25205	0.09003283	0.21053	0.10490057	0.25204	-8.994	0.68753	D	.	.	0.115	0.23219	B	.;.;.;.;.	.;.;.;.;.	4.473081	0.69718	25.4	0.99900692280111281	0.97275	0.74911	0.36658	D	AEFGBHCI	0.185593	0.31291	N	0.567576716567731	0.71158	5.608645	0.554347165222582	0.71699	5.695045	0.999999999519328	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.644132	0.48003	0	0.678554	0.66404	0	.	.	5.76	4.83	0.61880	1.645000	0.36855	4.091000	0.41805	0.599000	0.40250	0.861000	0.30630	0.999000	0.35428	0.963000	0.52385	0.1318:0.7413:0.1269:0.0	12.473	0.55139	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1097.43	34	chr9	7011779	.	C	T	1097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=0.831;SOR=0.668	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1109,0,1786	9	0	1	0
chr9	13223710	13223710	C	T	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon5:c.G394A:p.G132S,MPDZ:NM_001261407:exon5:c.G394A:p.G132S,MPDZ:NM_001330637:exon5:c.G394A:p.G132S,MPDZ:NM_001375413:exon5:c.G394A:p.G132S,MPDZ:NM_001375416:exon5:c.G394A:p.G132S,MPDZ:NM_001375417:exon5:c.G394A:p.G132S,MPDZ:NM_001375419:exon5:c.G394A:p.G132S,MPDZ:NM_001375420:exon5:c.G394A:p.G132S,MPDZ:NM_001375422:exon5:c.G394A:p.G132S,MPDZ:NM_001375424:exon5:c.G394A:p.G132S,MPDZ:NM_001375425:exon5:c.G394A:p.G132S,MPDZ:NM_001375426:exon5:c.G394A:p.G132S,MPDZ:NM_001375427:exon5:c.G394A:p.G132S,MPDZ:NM_001378778:exon5:c.G394A:p.G132S,MPDZ:NM_003829:exon5:c.G394A:p.G132S,MPDZ:NM_001375418:exon6:c.G394A:p.G132S,MPDZ:NM_001375421:exon6:c.G394A:p.G132S,MPDZ:NM_001375423:exon6:c.G394A:p.G132S	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	424	1093	5	0	0	5	0.00228206	0.9998	0.906	YES	980246	MPDZ-related_disorder|Hydrocephalus,_nonsyndromic,_autosomal_recessive_2|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.412	.	.	0.000399361	0.0007	0.0002	0.0007	0	0	0.0003	0	0.0025	0.0003493	54	154602	rs201101621	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0016	0.0015	6.096e-05	0.0002	7.852e-05	2.57e-05	0	0.0019	0.0001	0.0002	0.0018	0.0001	0.0001	0.0001	0.0001	0.0017	8.18e-05	6.734e-05	0.0008	0.0006	2.411e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0017	0.034	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000362	0.45194	D	0.000000	1	0.81001	D	2.135	0.59519	M	1.15	0.38236	T	-5.11	0.83092	D	0.785	0.84713	-0.9386	0.42837	T	0.182	0.52980	T	10	0.040896535	0.02698	T	0.070502	0.71020	D	0.412	0.72328	.	.	0.340032825777	0.33618	0.6551711625284203	0.65453	.	.	0.631065607071	0.57296	T	0.16244	0.50710	T	-0.122761	0.32673	T	0.0436216	0.73165	D	0.182919590480039	0.19418	T	0.955204	0.82942	D	0.43535444	0.63102	0.5114426	0.71768	0.43535444	0.63103	0.5114426	0.71768	-7.587	0.58220	D	.	.	0.248	0.50745	B	.;.;.;.;.;.	.;.;.;.;.;.	4.996362	0.82867	27.9	0.99849449483354025	0.92925	0.99079	0.90917	D	AEFBI	0.942156	0.94637	D	0.759990831907788	0.83552	8.047855	0.80504911703853	0.90143	10.27472	0.999999999994685	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	7.568000	0.81546	7.615000	0.62066	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.663	0.99665	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	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	0.004541	0.000000	0.004076	0.005917	0.000000	0.000000	0.000000	0.015152	0.05	419.43	34	chr9	13223710	.	C	T	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.934;DP=358;ExcessHet=0;FS=5.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.061;SOR=0.214	GT:AD:DP:GQ:PL	0/1:19,18:37:99:431,0,544	9	0	1	0
chr9	19056387	19056387	T	A	exonic	HAUS6	.	stopgain	HAUS6:NM_001270890:exon17:c.A2719T:p.K907X,HAUS6:NM_017645:exon17:c.A2824T:p.K942X	.	752	768	1	1	0	3	0.00194932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0008	0	8.654e-05	0.0101	0	0	0.0022	0.0002	0.000705	109	154602	rs140286860	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0054	0.0051	0	0	0	0.0060	0	0	0	0.0002	0.0003	0.0003	0.0003	0.0003	0.0003	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	0	0	0.0083	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.003379	0.35041	N	0.213792	0.999703	0.48408	D	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10892	0.65240	D	0.391213	0.91823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.208576	0.98618	40	0.99390786828940214	0.62337	0.78313	0.38618	D	AEFBI	0.066764	0.13090	N	0.621602651939915	0.74544	6.150539	0.449505058543662	0.64683	4.729432	0.0517852470500704	0.14885	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.33	4.33	0.51083	2.212000	0.42474	2.705000	0.34191	0.665000	0.62972	0.966000	0.33990	1.000000	0.68203	0.792000	0.37394	0.0:0.1065:0.0:0.8935	6.633	0.22060	617	0.66297	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	528.43	34	chr9	19056387	.	T	A	528.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.433;DP=360;ExcessHet=0;FS=2.371;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-1.429;QD=10.36;ReadPosRankSum=-0.556;SOR=0.839	GT:AD:DP:GQ:PL	0/1:26,25:51:99:540,0,582	9	0	1	0
chr9	26997960	26997960	A	C	exonic	LRRC19	.	nonsynonymous SNV	LRRC19:NM_022901:exon3:c.T363G:p.N121K	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00819669370919	.	.	3.297e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs767216658	5.131e-05	5.199e-05	4.357e-05	5.914e-05	0.0010	4.192e-05	3.824e-05	0.0005	0.0003	0	0	0	2.522e-05	0	0.0010	2.068e-05	6.625e-05	0.0005	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.272	0.15930	T	1.0	0.01155	T	0.025	0.19245	B	0.033	0.22329	B	0.793261	0.09380	N	0.907335	0.756743	0.29582	N	0.01	0.07948	N	0.46	0.56281	T	-0.32	0.12283	N	0.16	0.16725	-1.0119	0.26322	T	0.059	0.24908	T	10	0.038120866	0.02210	T	0.008197	0.21725	T	0.064	0.18567	0.441	0.49648	0.308904156042	0.30501	0.1963706548840227	0.19554	0.0225708552117	0.02277	0.30185213685	0.10676	T	0.002037	0.01442	T	-0.53306	0.00368	T	-0.692962	0.06219	T	0.0158662257922626	0.00372	T	0.494051	0.15283	T	0.10818	0.25579	0.08740978	0.20316	0.10818	0.25579	0.08740978	0.20316	-3.772	0.20387	T	.	.	0.112	0.22098	B	.	.	0.727693	0.10969	7.632	0.86347260259386838	0.16475	0.15504	0.18944	N	AEI	0.166932	0.29356	N	-1.02122087750605	0.08165	0.3818439	-0.90158399682894	0.12057	0.6179952	0.00206308497381586	0.09128	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.62	1.7	0.23359	0.020000	0.13359	1.393000	0.26132	0.684000	0.82519	0.019000	0.19563	0.133000	0.23019	0.979000	0.57723	0.4446:0.0:0.067:0.4884	6.263	0.20116	496	0.76301	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1329.43	36	chr9	26997960	.	A	C	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.213;DP=407;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.973;SOR=0.97	GT:AD:DP:GQ:PL	0/1:40,55:95:99:1341,0,916	9	0	1	0
chr9	34255997	34255997	G	T	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.C3610A:p.P1204T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0102272361612	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs558971996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.39820	T	0.617	0.09457	T	0.01	0.15535	B	0.005	0.11217	B	0.421915	0.12859	N	0.678993	1	0.08975	N	1.15	0.29295	L	-0.37	0.71662	T	-1.86	0.43524	N	0.104	0.20129	-0.9880	0.33102	T	0.178	0.52412	T	9	0.08868641	0.15293	T	0.010227	0.26522	T	0.037	0.09474	0.243	0.17677	0.681193236035	0.67848	0.2623196018584617	0.26144	.	.	0.266021132469	0.05629	T	0.006291	0.05726	T	-0.191921	0.21977	T	-0.513457	0.20959	T	0.0352940457947646	0.02858	T	0.636336	0.25008	T	0.041654427	0.06175	0.04743613	0.06833	0.041654427	0.06174	0.04743613	0.06833	-3.655	0.18656	T	.	.	0.080	0.11510	B	.;.	.;.	1.587537	0.20311	14.69	0.90305367972419082	0.19572	0.15444	0.18915	N	AEFDBCI	0.067945	0.13382	N	-0.773755104010767	0.13996	0.6937061	-0.776134004979361	0.15080	0.7913657	0.999936061149143	0.46732	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	4.44	1.56	0.22423	1.303000	0.33075	2.521000	0.33121	0.676000	0.76740	0.128000	0.23311	0.996000	0.32793	0.313000	0.24807	0.2135:0.0:0.5807:0.2058	3.357	0.06756	294	0.88270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1775.43	33	chr9	34255997	.	G	T	1775.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.353;DP=493;ExcessHet=0;FS=3.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.155;SOR=0.542	GT:AD:DP:GQ:PL	0/1:98,81:179:99:1787,0,2417	9	0	1	0
chr9	37711385	37711385	G	A	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon5:c.G398A:p.R133H,FRMPD1:NM_001371225:exon5:c.G398A:p.R133H,FRMPD1:NM_014907:exon5:c.G398A:p.R133H,FRMPD1:NM_001371224:exon6:c.G398A:p.R133H	.	427	1074	20	1	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	0.0016	0.00499201	0.0050	0.0002	0.0012	0	0.0097	0.0035	0.0044	0.0174	0.0043272	669	154602	rs140966026	0.0031	0.0032	0.0027	0.0036	0.0173	0.0031	0.0030	0.0165	0.0162	0.0002	0.0007	0.0272	5.042e-05	0.0097	0.0070	0.0013	0.0045	0.0173	0.0030	0.0030	0.0022	0.0038	0.0166	0.0028	0.0027	0.0137	0.0126	0.0003	0	0.0024	0.0245	0.0002	0.0106	0.0034	0.0018	0.0014	0.0166	0.04	0.42199	D	0.008	0.67890	D	1.0	0.90584	D	0.98	0.74843	D	0.000102	0.50451	D	0.126928	0.999999	0.58761	D	2.75	0.80375	M	0.56	0.54540	T	-0.46	0.14978	N	0.802	0.79792	-0.3916	0.72291	T	0.270	0.64193	T	10	0.010544717	0.00234	T	.	.	.	0.256	0.56694	.	.	0.852118958226	0.85069	0.6603132943390886	0.65968	0.65385711265	0.58498	0.652536511421	0.60346	T	0.010143	0.09188	T	-0.272517	0.11477	T	-0.149948	0.59248	T	0.0745650310130186	0.09277	T	0.863014	0.55864	D	0.077943295	0.17721	0.079483435	0.17896	0.077943295	0.17721	0.079483435	0.17895	-5.07	0.37590	T	.	.	0.279	0.51721	B	.;.	.;.	5.261493	0.88341	29.6	0.99948385802521578	0.99923	0.93011	0.57101	D	AEFBI	0.629839	0.61141	D	0.77566760609353	0.84564	8.322759	0.739514374306243	0.85372	8.560839	0.97591204178563	0.29676	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.31	5.31	0.75063	5.780000	0.68607	11.696000	0.94428	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	14.482	0.67172	798	0.45050	PDZ domain|PDZ domain;PDZ domain|PDZ 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	0.005539	0.000000	0.000000	0.002924	0.000000	0.017241	0.009146	0.015152	0.1	3607.14	33	chr9	37711385	.	G	A	3607.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=605;ExcessHet=0.2348;FS=2.462;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.37;SOR=0.86	GT:AD:DP:GQ:PL	0/1:82,87:169:99:2024,0,1852	8	0	2	0
chr9	61193088	61193088	A	C	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.A1002C:p.E334D,SPATA31A7:NM_015667:exon4:c.A1002C:p.E334D	.	573	946	3	0	0	3	0.00158311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1157379835	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	5.839e-05	0.0025	1.21e-05	0.0003	0.0048	5.839e-05	8.564e-05	0	0.0001	0.0022	2.206e-05	1.439e-05	0.0008	0.0005	0	0	0	0	0	0	0	2.238e-05	0	0.0022	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.05482477	0.05896	T	.	.	.	.	.	.	.	.	.	0.22287660494865427	0.22202	.	.	.	.	.	0.038	0.24860	T	.	.	.	.	.	.	.	.	.	0.455954	0.13062	T	.	.	.	.	.	.	.	.	-5.495	0.41821	T	.	.	0.223	0.45470	B	.	.	0.334939	0.07086	3.659	.	.	.	.	.	.	0.032337	0.03632	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.759000	0.04866	-6.283000	0.01442	0.257000	0.18371	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2229.08	34	chr9	61193088	.	A	C	2229.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.534;DP=459;ExcessHet=0;FS=1.22;MLEAC=1;MLEAF=0.056;MQ=35.88;MQRankSum=0.691;QD=12.88;ReadPosRankSum=-1.378;SOR=0.573	GT:AD:DP:GQ:PL	0/1:71,102:173:99:2240,0,1450	8	0	1	1
chr9	66990479	66990479	C	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon3:c.G274C:p.E92Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219012761	5.297e-05	0.0003	5.139e-05	5.457e-05	0.0002	4.339e-05	3.962e-05	4.052e-05	3.642e-05	9.308e-05	4.528e-05	0	0	1.882e-05	0.0002	5.132e-05	0.0001	7.036e-05	0.0005	0.0007	0.0005	0.0005	0.0005	0.0004	0.0003	0.0004	0.0003	0.0004	0.0096	0.0005	0	0	0	0	0.0005	0	0	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.092312336	0.16245	T	.	.	.	.	.	.	.	.	.	0.12372501910249045	0.12298	.	.	.	.	.	0.008309	0.07636	T	.	.	.	.	.	.	.	.	.	0.417258	0.10990	T	.	.	.	.	.	.	.	.	-3.251	0.13114	T	.	.	0.121	0.25000	B	.	.	0.960225	0.13364	9.872	.	.	.	.	.	.	0.032354	0.03640	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109000	0.15252	-1.850000	0.04613	0.286000	0.18717	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	37.43	16	chr9	66990479	.	C	G	37.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=200;ExcessHet=0;FS=2.567;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=27.25;MQRankSum=-2.011;QD=1.7;ReadPosRankSum=1.71;SOR=1.329	GT:AD:DP:GQ:PL	0/1:18,4:22:49:49,0,467	9	0	1	0
chr9	69246710	69246710	G	A	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon18:c.G2599A:p.A867T,TJP2:NM_001170416:exon18:c.G2680A:p.A894T,TJP2:NM_001369872:exon18:c.G2587A:p.A863T,TJP2:NM_001369873:exon18:c.G2587A:p.A863T,TJP2:NM_001369874:exon18:c.G2599A:p.A867T,TJP2:NM_001369875:exon18:c.G2599A:p.A867T,TJP2:NM_004817:exon18:c.G2587A:p.A863T,TJP2:NM_201629:exon18:c.G2587A:p.A863T,TJP2:NM_001170414:exon19:c.G2518A:p.A840T,TJP2:NM_001369870:exon19:c.G2512A:p.A838T,TJP2:NM_001369871:exon20:c.G2518A:p.A840T	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00827035716884	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1398489722	3.42e-06	4.104e-06	4.084e-06	2.75e-06	0.0002	1e-06	7.3e-07	.	.	0	0	0	0	0	0.0002	0	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.11120	T	0.72	0.06128	T	0.051	0.22415	B	0.12	0.32230	B	0.000058	0.53742	D	0.125323	0.999823	0.49512	D	1.17	0.29769	L	0.99	0.41750	T	-1.08	0.28084	N	0.201	0.24634	-1.0934	0.04989	T	0.081	0.32119	T	10	0.26376897	0.43857	T	0.00827	0.21903	T	0.078	0.22779	0.786	0.90919	0.572589462766	0.56925	0.3475001702788411	0.34664	0.336045285485	0.35606	0.62474834919	0.56400	T	0.087977	0.38060	T	-0.16417	0.26120	T	-0.473595	0.25131	T	0.364519774913788	0.27585	T	0.858314	0.54891	D	0.066230536	0.14229	0.09765324	0.23253	0.066230536	0.14229	0.09765324	0.23252	-4.016	0.24042	T	0.6194478929694722	0.68768	0.076	0.14660	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.786444	0.54474	23.5	0.63192962271699282	0.07159	0.93942	0.59640	D	AEFBI	0.366566	0.45434	N	-0.190673239875293	0.33520	1.902747	-0.0440470579607692	0.37748	2.214464	0.541672926218329	0.21258	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	3.25	0.36363	2.274000	0.43049	5.099000	0.47419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0722:0.0:0.7929:0.1349	10.633	0.44738	988	0.01987	.;.;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1064.43	34	chr9	69246710	.	G	A	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.327;DP=418;ExcessHet=0;FS=0.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.787;SOR=0.83	GT:AD:DP:GQ:PL	0/1:60,45:105:99:1076,0,1502	9	0	1	0
chr9	72740177	72740177	C	T	exonic	TMC1	.	nonsynonymous SNV	TMC1:NM_138691:exon9:c.C421T:p.R141W	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	57037	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_7|Autosomal_dominant_nonsyndromic_hearing_loss_36	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0068	0.00219649	0.0070	0.0015	0.0054	0.0002	0.0026	0.0101	0.0011	0.0045	0.0074126	1146	154602	rs11143384	0.0099	0.0099	0.0100	0.0097	0.0114	0.0097	0.0097	0.0112	0.0111	0.0013	0.0045	0.0157	0.0003	0.0028	0.0023	0.0114	0.0083	0.0053	0.0068	0.0068	0.0073	0.0062	0.0108	0.0064	0.0063	0.0102	0.0099	0.0019	0	0.0065	0.0167	0.0002	0.0020	0.0068	0.0108	0.0052	0.0048	0.01	0.56456	D	0.001	0.83351	D	0.99	0.63424	D	0.724	0.55036	P	0.005478	0.32770	N	0.248868	0.999984	0.18198	N	2.24	0.63355	M	0.74	0.50459	T	-3.55	0.68764	D	0.407	0.44761	-0.9593	0.39311	T	0.131	0.44248	T	10	0.006860882	0.00156	T	.	.	.	0.145	0.38592	.	.	0.639161686029	0.63619	0.5310747661685233	0.53031	0.556333922428	0.52297	0.298189610243	0.10132	T	0.469083	0.80275	T	-0.433511	0.01412	T	-0.383161	0.35353	T	0.0216567839023721	0.00870	T	0.979802	0.93166	D	0.12821145	0.29981	0.13691153	0.32739	0.1358002	0.31504	0.12134909	0.29278	-12.268	0.86131	D	.	.	0.329	0.56946	B	.;.;.;.	.;.;.;.	3.842335	0.55612	23.6	0.99822741560024031	0.90502	0.07013	0.13040	N	AEFI	0.159644	0.28547	N	-0.018318779508646	0.41026	2.446732	-0.128832874360762	0.34234	1.966893	0.614364550442611	0.21831	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.62	3.71	0.41733	0.615000	0.24023	1.885000	0.29478	0.599000	0.40250	0.005000	0.17040	0.291000	0.24165	0.995000	0.73285	0.3523:0.6477:0.0:0.0	11.001	0.46822	577	0.69927	.;.;.;.	GDA	Adipose_Subcutaneous	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	731.43	33	chr9	72740177	.	C	T	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.886;SOR=0.723	GT:AD:DP:GQ:PL	0/1:55,31:86:99:743,0,1284	9	0	1	0
chr9	75069908	75069908	G	C	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon5:c.C304G:p.L102V,NMRK1:NM_017881:exon5:c.C304G:p.L102V,NMRK1:NM_001330678:exon6:c.C316G:p.L106V,NMRK1:NM_001330679:exon6:c.C316G:p.L106V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0397904991121	0.0015	0.000798722	0.0014	0.0002	0.0003	0	0.0014	0.0019	0.0011	0.0016	0.0014942	231	154602	rs146012983	0.0022	0.0022	0.0022	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0006	0.0006	0.0017	0	0.0018	0.0010	0.0025	0.0015	0.0013	0.0014	0.0014	0.0014	0.0013	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0014	0.0023	0.0002	0.0010	0	0.0022	0.0014	0.0002	0.003	0.68238	D	0.074	0.42976	T	0.999	0.77913	D	0.996	0.84481	D	0.000008	0.62929	D	0.065086	0.994884	0.42456	D	2.835	0.82492	M	1.3	0.49068	T	-2.19	0.49352	N	0.511	0.54234	-0.5341	0.67386	T	0.284	0.65606	T	10	0.028863907	0.01015	T	0.03979	0.59008	D	0.216	0.50959	.	.	0.76554066581	0.76340	0.6875646154150812	0.68696	0.148953533345	0.16796	0.513455569744	0.40706	T	0.115187	0.43359	T	-0.376323	0.03286	T	-0.306799	0.44002	T	0.0430804988441211	0.04252	T	0.951205	0.82399	D	0.5969878	0.72529	0.44017994	0.67345	0.5969878	0.72530	0.44017994	0.67345	-6.462	0.68044	T	.	.	0.173	0.37858	B	.;.;.	.;.;.	4.568054	0.72040	25.8	0.99859105603442733	0.93729	0.96709	0.70521	D	AEFDBI	0.579089	0.58003	D	0.568070290642305	0.71188	5.613191	0.529947210321923	0.70015	5.443367	0.998973462231504	0.38110	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	5.76	4.84	0.62125	3.601000	0.53812	8.524000	0.77433	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0733:0.0:0.7793:0.1475	9.153	0.36137	728	0.54609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.05	654.43	46	chr9	75069908	.	G	C	654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.603;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.34;SOR=0.579	GT:AD:DP:GQ:PL	0/1:31,31:62:99:666,0,700	9	0	1	0
chr9	77020813	77020813	G	C	exonic	FOXB2	.	nonsynonymous SNV	FOXB2:NM_001013735:exon1:c.G1159C:p.A387P	.	419	1085	17	1	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	.	.	0.000199681	0.0020	0.0007	0.0020	0	0	0.0027	0.0114	0.0016	0.0006856	106	154602	rs377521125	0.0007	0.0007	0.0007	0.0007	0.0055	0.0007	0.0007	0.0040	0.0035	0.0003	0.0005	0.0114	0	0	0.0055	0.0004	0.0017	0.0017	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	7.217e-05	0	0.0005	0.0104	0	0	0.0103	0.0007	0.0009	0.0023	0.015	0.52492	D	0.312	0.19599	T	0.003	0.11197	B	0.004	0.10090	B	0.652760	0.05933	N	1.202600	0.999998	0.08975	N	0.92	0.23413	L	-4.01	0.96370	D	-1.01	0.26639	N	0.278	0.31478	-0.1303	0.79394	T	0.652	0.87900	D	10	0.005669862	0.00126	T	.	.	.	0.284	0.60219	.	.	0.848565438326	0.84711	0.3308093046913811	0.32993	.	.	0.793604016304	0.80991	T	0.01568	0.13108	T	-0.253451	0.13678	T	-0.155856	0.58723	T	0.00397192185015662	0.00042	T	0.507849	0.16117	T	0.24302977	0.47237	0.24187109	0.49594	0.24302977	0.47237	0.24187109	0.49593	-3.498	0.16403	T	.	.	0.076	0.05890	B	.	.	2.994168	0.39986	21.1	0.98772840874293677	0.46002	0.63656	0.32158	D	AEFDBHCI	0.215061	0.34046	N	-0.48586387122857	0.22544	1.204471	-0.333146365667603	0.27035	1.497392	0.995799907957972	0.34330	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.94	2.98	0.33575	2.100000	0.41402	7.763000	0.68332	0.590000	0.31872	0.337000	0.25649	1.000000	0.68203	0.855000	0.40485	0.0:0.1898:0.4884:0.3219	5.846	0.17921	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	0.006173	0.000000	0.013624	0.002959	0.000000	0.009091	0.003145	0.000000	0.05	600.43	37	chr9	77020813	.	G	C	600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.47;DP=406;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.612;SOR=1.038	GT:AD:DP:GQ:PL	0/1:25,25:50:99:612,0,566	9	0	1	0
chr9	77337362	77337362	G	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon46:c.G6086T:p.R2029I,VPS13A:NM_001018038:exon47:c.G6203T:p.R2068I,VPS13A:NM_015186:exon47:c.G6203T:p.R2068I,VPS13A:NM_033305:exon47:c.G6203T:p.R2068I	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0102514496953	.	.	8.395e-06	0	0	0	0	1.532e-05	0	0	6.5e-06	1	154602	rs758988617	6.847e-07	6.841e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.24090	T	0.385	0.33894	T	0.253	0.31412	B	0.168	0.36167	B	0.005347	0.32875	N	0.341692	0.983454	0.25291	N	2.28	0.64929	M	0.97	0.49068	T	-1.79	0.47344	N	0.295	0.33360	-1.0224	0.22932	T	0.098	0.36651	T	10	0.058402717	0.06860	T	0.010251	0.26566	T	0.039	0.10176	0.37	0.38013	0.319114376414	0.31517	0.4717645457171215	0.47095	0.313891519587	0.33679	0.228319883347	0.01846	T	0.377531	0.74069	T	-0.136315	0.30480	T	-0.433584	0.29529	T	0.277612090110779	0.24070	T	0.89651	0.63872	D	0.046739172	0.07874	0.05897707	0.10991	0.046739172	0.07874	0.05897707	0.10991	-4.431	0.30928	T	.	.	0.085	0.10400	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.299169	0.17006	12.90	0.70934722897143188	0.09460	0.03750	0.09054	N	AEFI	0.059156	0.11151	N	-0.827854196264862	0.12601	0.6152709	-0.913090170991526	0.11784	0.6024893	0.00163650861004326	0.08729	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.3	-0.841	0.10207	-0.138000	0.10353	-0.747000	0.07594	-0.106000	0.15538	0.009000	0.18154	0.000000	0.08366	0.447000	0.27828	0.5795:0.0:0.2856:0.1349	6.145	0.19495	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	473.43	33	chr9	77337362	.	G	T	473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.901;DP=375;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.405;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,21:57:99:485,0,861	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,14:54:99:0|1:86018822_G_C:129,0,964:86018822	3	0	7	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:213,126:363:99:644,0,3473	0	0	10	0
chr9	92522719	92522719	T	C	exonic	ECM2	.	nonsynonymous SNV	ECM2:NM_001197295:exon2:c.A148G:p.N50D,ECM2:NM_001197296:exon2:c.A148G:p.N50D,ECM2:NM_001393:exon2:c.A148G:p.N50D	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00198204966881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047748391	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.19782	T	0.668	0.07037	T	0.0	0.02946	B	0.002	0.06944	B	0.438216	0.04744	N	1.325750	1	0.08975	N	0.69	0.16971	N	1.51	0.30937	T	-0.54	0.22078	N	0.108	0.09349	-1.0157	0.25110	T	0.034	0.14639	T	10	0.07022607	0.10186	T	0.001982	0.03562	T	0.081	0.23632	0.129	0.03412	0.28297238246	0.27903	0.21793361606735998	0.21709	0.0677513762083	0.07582	0.222169816494	0.01439	T	0.002827	0.02217	T	-0.36763	0.03715	T	-0.765852	0.02906	T	0.817092895507812	0.47557	D	0.629737	0.26183	T	0.06484647	0.13799	0.08232154	0.18780	0.06484647	0.13799	0.08232154	0.18779	-4.239	0.27966	T	.	.	0.093	0.14108	B	.;.;.;.	.;.;.;.	0.987606	0.13652	10.19	0.95800494607201692	0.27857	0.06904	0.12930	N	AEFDGBCI	0.130808	0.24951	N	-1.08739340793951	0.06874	0.3177296	-1.06838394661996	0.08329	0.4090117	0.959846345846285	0.28451	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.58	-2.86	0.05376	0.319000	0.19270	-0.179000	0.11150	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.2608:0.345:0.3942	6.644	0.22116	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2229.43	150	chr9	92522719	.	T	C	2229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.601;DP=952;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.79;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,94:152:99:0|1:92522700_T_G:2241,0,1270:92522700	9	0	1	0
chr9	94301001	94301002	AG	-	exonic	ZNF169	.	frameshift deletion	ZNF169:NM_001301275:exon5:c.870_871del:p.K293Afs*14,ZNF169:NM_003448:exon5:c.1446_1447del:p.K485Afs*14,ZNF169:NM_194320:exon5:c.1443_1444del:p.K484Afs*14	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	4.942e-05	0.0003	0	0	0	2.997e-05	0.0011	0	3.88e-05	6	154602	rs745852316	3.078e-05	3.078e-05	3.131e-05	3.025e-05	0.0001	2.347e-05	2.095e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	3.327e-05	3.312e-05	1.159e-05	5.916e-05	5.911e-05	6.427e-05	5.381e-05	0.0001	3.078e-05	2.211e-05	6.287e-05	4.302e-05	0.0001	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3768.39	36	chr9	94301000	.	CAG	C	3768.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.06;DP=637;ExcessHet=0;FS=1.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=0.819;SOR=0.589	GT:AD:DP:GQ:PL	0/1:94,99:193:99:3780,0,3526	9	0	1	0
chr9	98208741	98208741	C	G	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon3:c.G697C:p.D233H,TBC1D2:NM_001267571:exon9:c.G2077C:p.D693H,TBC1D2:NM_018421:exon9:c.G2077C:p.D693H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0173446412807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.095e-07	6.84e-07	1.397e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.722e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.52492	T	0.039	0.51737	D	0.946	0.53363	P	0.737	0.55577	P	0.003269	0.35183	N	0.318633	0.713662	0.30947	N	1.225	0.30651	L	2.73	0.11839	T	-1.7	0.40468	N	0.342	0.38335	-1.0754	0.08266	T	0.046	0.19879	T	10	0.26594985	0.44095	T	0.017345	0.39013	T	0.082	0.23913	0.403	0.43408	0.490631539035	0.48696	0.3886650009406994	0.38781	0.907913541504	0.70920	0.481947213411	0.36325	T	0.011687	0.10390	T	-0.171781	0.24965	T	-0.484528	0.23967	T	0.901777744293213	0.55458	D	0.864413	0.56163	D	0.057692014	0.11514	0.10638002	0.25591	0.057692014	0.11514	0.10638002	0.25591	-8.487	0.64343	D	.	.	0.100	0.17700	B	.;.;.;.;.	.;.;.;.;.	3.153644	0.42703	21.6	0.99454425989107387	0.65479	0.78353	0.38644	D	AEFDBI	0.195097	0.32215	N	0.451639673761879	0.64295	4.680943	0.464235040342051	0.65636	4.848874	0.999802951353177	0.43304	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.76	3.74	0.42108	4.522000	0.60254	1.431000	0.26447	0.599000	0.40250	1.000000	0.71638	0.778000	0.26755	0.995000	0.73285	0.1307:0.5787:0.2089:0.0816	5.356	0.15363	555	0.71762	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1042.43	34	chr9	98208741	.	C	G	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=426;ExcessHet=0;FS=1.532;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-1.004;SOR=0.854	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1054,0,1668	9	0	1	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	.	.	.	.	.	.	.	.	0.2857	752.88	81	chr9	110137052	.	G	C	752.88	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.8;DP=648;ExcessHet=1.5895;FS=269.449;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=0.646;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:67:0|1:110137052_G_C:67,0,2204:110137052	3	0	4	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	693.98	81	chr9	110137054	.	G	A	693.98	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.298;DP=682;ExcessHet=1.5895;FS=212.426;InbreedingCoeff=-0.3085;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=1.5;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:67:0|1:110137052_G_C:67,0,2204:110137052	4	0	4	2
chr9	110446963	110446963	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon25:c.G4198A:p.D1400N	.	.	.	.	.	.	.	.	.	.	.	4073446	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.613	0.0818693585799	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747122560	3.514e-05	3.557e-05	2.546e-05	4.509e-05	0.0002	2.69e-05	2.423e-05	2.799e-05	2.464e-05	0	8.552e-05	0	0	0	0.0002	3.713e-05	8.639e-05	0	2.628e-05	2.627e-05	1.285e-05	4.035e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.126	0.27194	T	0.016	0.60972	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999818	0.49394	D	0.93	0.23535	L	-3.72	0.95422	D	-1.93	0.44852	N	0.568	0.65587	0.790	0.94283	D	0.888	0.96291	D	10	0.53292656	0.63286	D	0.081869	0.73777	D	0.613	0.84879	.	.	0.456634521626	0.45285	0.6371302673483843	0.63647	0.480749730577	0.47089	0.732280552387	0.71839	T	0.036676	0.55969	T	-0.0842119	0.39028	T	-0.110432	0.62577	T	0.436834871768951	0.30313	T	0.963904	0.86656	D	0.2646127	0.49528	0.28487664	0.54488	0.2646127	0.49528	0.28487664	0.54487	-8.4	0.63765	D	.	.	0.313	0.54019	B	.;.	.;.	5.041921	0.83928	28.2	0.99915222581646912	0.98379	0.98398	0.82369	D	AEFBI	0.924842	0.90348	D	0.705473893918032	0.79992	7.196376	0.743168119135371	0.85645	8.642991	0.999999988892311	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	7.567000	0.81378	7.668000	0.64620	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.173	0.98166	975	0.05339	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	36	chr9	110446963	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.219;DP=417;ExcessHet=0;FS=5.335;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.81;ReadPosRankSum=-0.511;SOR=1.212	GT:AD:DP:GQ:PL	0/1:68,34:102:99:706,0,1680	9	0	1	0
chr9	112453977	112453977	A	G	exonic	C9orf147	.	nonsynonymous SNV	C9orf147:NM_001350649:exon5:c.T479C:p.L160P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00219649	0.0012	0.0003	0.0028	0	0	0.0017	0	0	0.0013519	209	154602	rs143216878	0.0024	0.0024	0.0023	0.0024	0.0034	0.0023	0.0023	0.0029	0.0027	0.0006	0.0034	0	0	0	0.0004	0.0028	0.0017	1.208e-05	0.0018	0.0018	0.0020	0.0016	0.0048	0.0016	0.0016	0.0039	0.0036	0.0007	0	0.0048	0.0003	0	9.43e-05	0.0034	0.0023	0.0052	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	.	.	.	.	.	.	.	.	0.05	670.43	34	chr9	112453977	.	A	G	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=308;ExcessHet=0;FS=3.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=-0.976;SOR=1.547	GT:AD:DP:GQ:PL	0/1:16,22:38:99:682,0,450	9	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1608.71	231	chr9	114406374	.	C	G	1608.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.344;DP=1986;ExcessHet=4.5998;FS=133.457;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.598;SOR=11.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,41:182:99:.:.:265,0,2754:.	3	0	6	1
chr9	128424479	128424479	C	A	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon5:c.C397A:p.P133T,CERCAM:NM_016174:exon5:c.C631A:p.P211T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.0528253497093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.96	0.85114	M	1.77	0.25841	T	-6.83	0.94620	D	0.972	0.98750	-0.6246	0.63798	T	0.203	0.56101	T	10	0.9210579	0.91460	D	0.052825	0.65225	D	0.722	0.90191	0.776	0.90157	0.66106210273	0.65822	0.9296258412690526	0.92940	0.619847239312	0.56322	0.748825073242	0.74273	T	0.352001	0.73298	T	0.274257	0.80818	D	0.156175	0.80571	D	0.995685696601868	0.87878	D	0.957504	0.87031	D	0.665218	0.76177	0.50294507	0.71267	0.665218	0.76179	0.50294507	0.71267	-10.921	0.79223	D	.	.	0.481	0.73725	A	.;.;.;.	.;.;.;.	4.661973	0.74425	26.2	0.99819178297687716	0.90238	0.99351	0.94882	D	AEFDGBI	0.922054	0.89645	D	0.849747274926762	0.89093	9.83228	0.785609722657256	0.88774	9.710728	0.999999999999549	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	7.897000	0.85944	7.613000	0.61989	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:1.0:0.0:0.0	16.817	0.85599	389	0.83303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2566.43	33	chr9	128424479	.	C	A	2566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.297;DP=565;ExcessHet=0;FS=4.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.77;SOR=0.987	GT:AD:DP:GQ:PL	0/1:89,105:194:99:2578,0,2043	9	0	1	0
chr9	129829205	129829205	G	A	exonic	C9orf78	.	nonsynonymous SNV	C9orf78:NM_016520:exon8:c.C778T:p.R260W	.	.	.	.	.	.	.	.	0.0002	0.208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0210216390015	7.7e-05	.	3.49e-05	0	0	0	0	1.585e-05	0	0.0002	3.23e-05	5	154602	rs140049867	4.594e-05	4.857e-05	4.64e-05	4.547e-05	6.964e-05	3.67e-05	3.355e-05	3.814e-05	3.416e-05	2.993e-05	0	0	0	0	0	4.869e-05	9.956e-05	6.964e-05	2.629e-05	2.627e-05	2.57e-05	2.692e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0.0005	0	0.013	0.53900	D	0.011	0.64786	D	0.978	0.58756	D	0.421	0.45113	B	0.003158	0.35359	N	0.307055	0.998743	0.45372	D	.	.	.	0.81	0.48460	T	-1.79	0.42191	N	0.36	0.40164	-1.0043	0.28666	T	0.096	0.36238	T	10	0.17809793	0.32878	T	0.021022	0.43722	T	0.084	0.24469	.	.	0.621426341079	0.61835	0.7301901121603935	0.72964	0.768211306109	0.64631	.	.	.	0.05832	0.30810	T	-0.338886	0.05465	T	-0.487894	0.23612	T	0.0812331883383115	0.10144	T	0.80282	0.44919	T	0.06622246	0.14229	0.06699215	0.13798	0.06622246	0.14229	0.06699215	0.13798	-7.198	0.55467	T	.	.	0.337	0.55733	B	.	.	4.681999	0.74937	26.2	0.99883328649177361	0.95892	0.85617	0.44769	D	AEFDGBCI	0.646481	0.62200	D	0.0461954240446718	0.43966	2.679501	0.0415737504117576	0.41666	2.507	0.999986006978082	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	-0.0882	0.13009	1.659000	0.37003	3.550000	0.39044	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0642:0.0:0.4245:0.5113	10.982	0.46718	366	0.84579	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	865.43	33	chr9	129829205	.	G	A	865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=391;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1;SOR=0.909	GT:AD:DP:GQ:PL	0/1:41,34:75:99:877,0,940	9	0	1	0
chr9	130099504	130099504	C	T	exonic	GPR107	.	nonsynonymous SNV	GPR107:NM_001136557:exon10:c.C911T:p.T304I,GPR107:NM_001136558:exon10:c.C911T:p.T304I,GPR107:NM_001287346:exon10:c.C344T:p.T115I,GPR107:NM_020960:exon10:c.C911T:p.T304I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.0180350822126	0.0012	0.000199681	0.0012	0.0005	0.0009	0	0.0003	0.0018	0	6.108e-05	0.0011837	183	154602	rs41279172	0.0019	0.0020	0.0020	0.0019	0.0024	0.0019	0.0019	0.0023	0.0023	0.0006	0.0006	7.682e-05	0	0.0006	0.0007	0.0024	0.0014	9.305e-05	0.0013	0.0013	0.0013	0.0012	0.0023	0.0011	0.0011	0.0020	0.0019	0.0004	0	0.0003	0	0	0.0011	0	0.0023	0.0014	0.0002	0.46	0.08736	T	0.456	0.16522	T	0.63	0.40197	P	0.212	0.37394	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.845	0.48678	L	1.9	0.23486	T	-1.78	0.42001	N	0.687	0.69300	-1.1007	0.04008	T	0.064	0.26632	T	10	0.03224185	0.01372	T	0.018035	0.39967	T	0.354	0.67510	.	.	0.365710854667	0.36188	0.7508004069505936	0.75027	0.319581712217	0.34159	0.785552024841	0.79767	T	0.016455	0.13597	T	-0.112874	0.34293	T	0.0617238	0.74359	D	0.465087413787842	0.31351	T	0.928507	0.80472	D	0.4051486	0.61087	0.16488396	0.38173	0.4051486	0.61088	0.16488396	0.38172	-10.464	0.76640	D	.	.	0.682	0.77306	P	.;.;.;.	.;.;.;.	4.414774	0.68328	25.2	0.99578538913307968	0.72861	0.96570	0.69802	D	AEFDBCI	0.867141	0.78681	D	0.26303680200165	0.54288	3.59461	0.400659989540805	0.61604	4.36308	0.999999999999994	0.74766	0.741868	0.97996	0	0.743671	0.97443	0	0.724815	0.87919	0	0.662026	0.63922	0	.	.	5.26	5.26	0.73479	7.333000	0.78468	5.896000	0.50824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.461	0.87514	515	0.74782	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	412.43	33	chr9	130099504	.	C	T	412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.774;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=1.44;SOR=0.807	GT:AD:DP:GQ:PL	0/1:25,20:45:99:424,0,600	9	0	1	0
chr9	131619076	131619076	C	T	exonic	RAPGEF1	.	nonsynonymous SNV	RAPGEF1:NM_001377938:exon11:c.G1925A:p.R642Q,RAPGEF1:NM_001377935:exon12:c.G2036A:p.R679Q	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	8.558e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs766787831	5.719e-05	5.062e-05	6.399e-05	5.025e-05	0.0001	4.596e-05	4.211e-05	8.442e-05	6.586e-05	3.822e-05	5.518e-05	0	0	0	0	5.574e-05	2.287e-05	0.0001	2.629e-05	2.627e-05	2.57e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-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	.	.	.	.	.	.	.	.	0.05	2238.43	33	chr9	131619076	.	C	T	2238.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.037;DP=494;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.16;SOR=0.819	GT:AD:DP:GQ:PL	0/1:78,99:177:99:2250,0,1716	9	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	0.2	829.58	36	chr9	133208141	.	T	A	829.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.06;DP=164;ExcessHet=1.5895;FS=5.808;InbreedingCoeff=-0.2503;MLEAC=4;MLEAF=0.2;MQ=55.82;MQRankSum=-3.866;QD=10.24;ReadPosRankSum=-0.126;SOR=1.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,9:21:99:.:.:263,0,292:.	6	0	4	0
chr9	133433442	133433442	G	A	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon10:c.G1157A:p.R386H,ADAMTS13:NM_139026:exon10:c.G1064A:p.R355H,ADAMTS13:NM_139027:exon10:c.G1157A:p.R386H	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	901342	Upshaw-Schulman_syndrome|not_provided	MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.057	0.035154615848	0.0004	.	0.0003	0	0.0003	0	0	0.0004	0.0022	0.0006	0.0002975	46	154602	rs151048660	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	8.961e-05	0.0002	0.0010	0	1.893e-05	0.0023	0.0002	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	4.818e-05	0	0.0003	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.282	0.16466	T	0.456	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.46	0.12951	N	0.16	0.60610	T	0.29	0.08340	N	0.194	0.27077	-1.0308	0.20195	T	0.086	0.33326	T	9	0.057601452	0.06642	T	0.035155	0.56159	D	0.057	0.16321	.	.	0.661710244528	0.65887	0.27980405084893883	0.27893	0.412108884712	0.41960	0.254506707191	0.04257	T	0.041662	0.25932	T	-0.455824	0.01043	T	-0.524944	0.19796	T	0.0125158557050813	0.00207	T	0.743426	0.36288	T	0.05646367	0.11112	0.101116404	0.24197	0.05646367	0.11112	0.101116404	0.24196	-0.842	0.01343	T	.	.	0.06	0.01328	B	.;.;.;.	.;.;.;.	1.038204	0.14185	10.76	0.80278701395729191	0.13128	0.18174	0.20150	N	AEFDGBHCI	0.076710	0.15437	N	-0.888318476583675	0.11120	0.5349228	-0.748491101627715	0.15760	0.8304221	0.992046526955937	0.32699	0.77792	0.99625	0	0.61073	0.52368	0	0.854111	0.99894	0	0.567892	0.33627	0	.	.	4.88	1.11	0.19640	1.061000	0.30152	0.359000	0.17556	-0.641000	0.04447	0.973000	0.34540	0.001000	0.17328	0.116000	0.19000	0.6747:0.0:0.3253:0.0	7.999	0.29449	838	0.37812	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.006793	0.008772	0.000000	0.008621	0.000000	0.003788	0.05	987.43	35	chr9	133433442	.	G	A	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.501;DP=429;ExcessHet=0;FS=2.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.63;SOR=0.472	GT:AD:DP:GQ:PL	0/1:56,43:99:99:999,0,1413	9	0	1	0
chr9	135818443	135818443	G	A	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon13:c.C4133T:p.S1378L	.	429	1092	1	0	0	1	0.000457666	.	.	.	2466090	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.018342401993	.	.	5.339e-05	0	0	0.0008	0	0	0	0	1.94e-05	3	154602	rs764373953	3.459e-06	4.788e-06	1.376e-06	5.565e-06	0.0001	1.01e-06	7.4e-07	3.472e-05	1.997e-05	0	0	0	0.0001	0	0	0	1.667e-05	0	2.627e-05	2.626e-05	1.284e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.669	0.04848	T	0.533	0.16522	T	0.082	0.59675	B	0.016	0.44859	B	0.000159	0.49130	D	0.184944	0.999336	0.52935	D	2.4	0.69460	M	2.35	0.16217	T	-1.13	0.29114	N	0.275	0.39254	-1.1299	0.01787	T	0.044	0.18906	T	10	0.0363667	0.01932	T	0.018342	0.40371	T	0.088	0.25558	0.273	0.22369	0.297458270211	0.29361	0.42860163435187854	0.42777	1.24102395754	0.81563	0.449537932873	0.31880	T	0.033007	0.22733	T	-0.441538	0.01267	T	-0.535756	0.18716	T	0.226663686266515	0.21791	T	0.969503	0.89155	D	0.06112475	0.12621	0.068027	0.14152	0.06112475	0.12621	0.068027	0.14152	-3.938	0.22873	T	.	.	0.091	0.13737	B	.;.;.	.;.;.	4.200644	0.63389	24.6	0.99584774969460743	0.73218	0.97946	0.78335	D	AEFDBI	0.681523	0.64485	D	0.139896179363168	0.48332	3.046971	0.208957130190346	0.50345	3.227434	0.999993750908642	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.55	0.55429	6.623000	0.74104	8.238000	0.76846	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0721:0.0:0.9279:0.0	14.186	0.65144	577	0.69927	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	421.43	37	chr9	135818443	.	G	A	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.058;DP=375;ExcessHet=0;FS=2.22;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=1.47;SOR=1.018	GT:AD:DP:GQ:PL	0/1:37,22:59:99:433,0,850	9	0	1	0
chr9	135821534	135821534	G	C	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon11:c.C3127G:p.Q1043E	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0138849898337	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373185407	2.737e-06	2.736e-06	4.084e-06	1.375e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.018	0.63109	D	0.994	0.66517	D	0.779	0.57244	P	0.000030	0.55875	D	0.123645	0.987307	0.46766	D	2.43	0.70455	M	2.61	0.13095	T	-1.37	0.33998	N	0.425	0.50868	-1.0152	0.25272	T	0.086	0.33298	T	10	0.27536973	0.45094	T	0.013885	0.33612	T	0.151	0.39764	.	.	0.443461608722	0.43965	0.4516497327469113	0.45082	0.201043316276	0.22505	0.417221397161	0.27455	T	0.039143	0.25088	T	-0.0985244	0.36671	T	-0.3793	0.35804	T	0.359305202960968	0.27382	T	0.887511	0.61533	D	0.13587745	0.31520	0.18059091	0.40869	0.13587745	0.31520	0.18059091	0.40868	-7.907	0.60435	D	.	.	0.121	0.41202	B	.;.;.	.;.;.	3.770467	0.54150	23.5	0.22615166021164876	0.00918	0.98468	0.83094	D	AEFDGBI	0.659041	0.63010	D	0.456643581647493	0.64582	4.715893	0.412702796836043	0.62356	4.449575	0.999999999655318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.564000	0.67060	11.723000	0.94851	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	18.071	0.89334	621	0.65931	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1939.43	33	chr9	135821534	.	G	C	1939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=459;ExcessHet=0;FS=4.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.188;SOR=1.131	GT:AD:DP:GQ:PL	0/1:75,75:150:99:1951,0,1780	9	0	1	0
chr9	136049674	136049674	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.A848G:p.Y283C	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.285552310052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	0.993	0.65571	D	0.72	0.54860	P	0.000009	0.62929	N	0.067227	0.973611	0.39038	D	2.49	0.72568	M	-0.77	0.73523	T	-2.95	0.61580	D	0.313	0.35514	-0.5248	0.67737	T	0.319	0.68848	T	10	0.37526828	0.53783	T	0.285552	0.90383	D	0.254	0.56428	0.343	0.33626	0.775124561867	0.77305	0.6360748828091852	0.63541	0.861284270804	0.68974	0.753834009171	0.75013	T	0.370359	0.73491	T	-0.0325623	0.47045	T	-0.28455	0.46337	T	0.978369653224945	0.72290	D	0.864914	0.56300	D	0.51301	0.67855	0.4039079	0.64833	0.51301	0.67856	0.4039079	0.64833	-4.541	0.31421	T	.	.	0.165	0.47687	B	.;.	.;.	3.240516	0.44233	21.9	0.99606783354259776	0.74575	0.86584	0.45895	D	AEFGI	0.316209	0.42056	N	0.157169394521113	0.49153	3.118827	0.143521318205641	0.46800	2.920111	0.746145300890868	0.23288	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.33	3.19	0.35720	2.020000	0.40630	1.870000	0.29381	0.654000	0.53741	0.862000	0.30648	0.991000	0.31484	0.979000	0.57723	0.0:0.0904:0.0:0.9096	8.913	0.34725	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	.	.	.	.	.	.	.	.	0.05	852.43	35	chr9	136049674	.	T	C	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.276;SOR=0.813	GT:AD:DP:GQ:PL	0/1:25,34:59:99:864,0,514	9	0	1	0
chr9	136475059	136475059	G	A	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.C2557T:p.H853Y,SEC16A:NM_014866:exon3:c.C2557T:p.H853Y	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00641381404341	.	.	9.178e-05	0	8.714e-05	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs779264673	6.842e-05	6.84e-05	7.352e-05	6.327e-05	0.0002	5.714e-05	5.327e-05	0.0001	8.648e-05	2.987e-05	0	0.0002	2.519e-05	0	0.0002	6.925e-05	0	0.0002	3.947e-05	3.941e-05	5.143e-05	2.694e-05	7.352e-05	1.717e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0.0003	0	0	0	7.352e-05	0	0	0.023	0.48186	D	0.394	0.41742	T	0.019	0.17989	B	0.004	0.10090	B	0.139868	0.02877	N	1.705520	1	0.08975	N	.	.	.	1.93	0.22881	T	-0.97	0.25770	N	0.25	0.28264	-0.9951	0.31272	T	0.033	0.13986	T	10	0.046919078	0.03944	T	0.006414	0.16870	T	0.011	0.01250	0.143	0.04650	0.0934897674506	0.08844	0.08923660628499547	0.08856	0.074636563981	0.08373	0.244805648923	0.03241	T	0.017566	0.14308	T	-0.475072	0.00791	T	-0.660505	0.08233	T	0.0257524115862366	0.01373	T	0.415758	0.10904	T	0.05918749	0.11998	0.06859755	0.14347	0.05918749	0.11998	0.06859755	0.14347	-3.626	0.18233	T	.	.	0.092	0.17402	B	.;.;.;.	.;.;.;.	0.211282	0.05949	2.388	0.93172668814172377	0.22830	0.29272	0.23777	N	AEFDGBCI	0.085751	0.17384	N	-1.25933293765268	0.04178	0.1880765	-1.26118393977738	0.04967	0.235609	0.999999920682013	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	-3.26	0.04750	-0.641000	0.05531	-2.342000	0.03876	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.0:0.2044:0.4889:0.3067	7.327	0.25735	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1786.43	78	chr9	136475059	.	G	A	1786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.236;DP=653;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-2.477;SOR=0.575	GT:AD:DP:GQ:PL	0/1:50,69:119:99:1798,0,1235	9	0	1	0
chr9	136676978	136676978	G	A	exonic	AGPAT2	.	nonsynonymous SNV	AGPAT2:NM_001012727:exon3:c.C475T:p.R159C,AGPAT2:NM_006412:exon3:c.C475T:p.R159C	Lipodystrophy, congenital generalized, type 1, Autosomal recessive	0	1476	45	1	0	47	0.0156719	.	.	.	207659	not_specified|not_provided|Congenital_generalized_lipodystrophy_type_1|Monogenic_diabetes|AGPAT2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.583	0.376081266076	0.0042	0.00299521	0.0055	0.0006	0.0045	0	0.0023	0.0069	0.0090	0.0079	0.0052522	812	154602	rs142993240	0.0052	0.0051	0.0051	0.0054	0.0200	0.0051	0.0051	0.0170	0.0158	0.0009	0.0053	0.0113	0	0.0021	0.0200	0.0052	0.0062	0.0075	0.0045	0.0045	0.0045	0.0045	0.0081	0.0042	0.0041	0.0061	0.0055	0.0014	0	0.0057	0.0102	0	0.0014	0.0274	0.0062	0.0081	0.0081	0.04	0.42199	D	0.133	0.34359	T	0.994	0.67487	D	0.827	0.61233	P	0.293250	0.14730	N	0.654070	0.98209	0.39852	D	1.885	0.50048	L	-3.25	0.93532	D	-1.31	0.39119	N	0.334	0.42345	0.563	0.91414	D	0.794	0.93025	D	10	0.013234198	0.00281	T	0.376081	0.92861	D	0.583	0.83249	.	.	0.98728440208	0.98714	0.550509138554867	0.54976	0.675783368987	0.59728	0.304822176695	0.11124	T	0.634862	0.88730	D	-0.242284	0.15060	T	-0.116936	0.62053	T	0.0146335427042857	0.00302	T	0.835916	0.50694	T	0.27577108	0.50640	0.1912488	0.42572	0.36025938	0.57856	0.18649092	0.41824	-4.821	0.75123	T	.	.	0.199	0.45653	B	.;.;.	.;.;.	4.247194	0.64440	24.7	0.99853759363083971	0.93279	0.84552	0.43635	D	AEFDGBHCI	0.891524	0.82756	D	0.394959614047973	0.61147	4.312139	0.283211928081487	0.54560	3.62051	0.999983192290523	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.570548	0.19454	0	0.741806	0.99463	0	.	.	4.75	2.66	0.30672	2.855000	0.48032	2.028000	0.30240	0.676000	0.76740	1.000000	0.71638	0.638000	0.25900	0.318000	0.24924	0.0:0.1308:0.3813:0.488	6.900	0.23456	952	0.10565	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase	.	.	.	.	.	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	0.010574	0.010101	0.016349	0.011696	0.000000	0.008621	0.009146	0.003788	0.05	747.43	33	chr9	136676978	.	G	A	747.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.777;DP=397;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.236;SOR=1.086	GT:AD:DP:GQ:PL	0/1:43,33:76:99:759,0,988	9	0	1	0
chr9	137077561	137077561	G	A	exonic	UAP1L1	.	nonsynonymous SNV	UAP1L1:NM_207309:exon1:c.G29A:p.R10Q	.	.	.	.	.	.	.	.	.	.	.	3341139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0634342366896	.	.	0.0001	0	0	0.0081	.	0	0	0	6.5e-06	1	154602	rs772208245	8.36e-05	0.0001	8.876e-05	7.829e-05	0.0034	7.027e-05	6.566e-05	0.0028	0.0026	0	0	0	0.0034	0	0	4.998e-06	0.0002	7.257e-05	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	0	0	0	0	0.0062	0	0	1.489e-05	0	0.0002	0.159	0.23813	T	0.152	0.32249	T	0.033	0.20350	B	0.002	0.06944	B	.	.	.	.	0.988696	0.24382	N	1.6	0.40776	L	2.24	0.17923	T	-0.9	0.24244	N	0.097	0.07811	-1.0588	0.12058	T	0.031	0.13286	T	9	0.006783426	0.00154	T	0.063434	0.68966	D	0.027	0.05988	0.421	0.46365	0.144782658237	0.14088	0.525313791611143	0.52455	0.27922568898	0.30403	0.852440476418	0.89982	D	0.015519	0.13004	T	-0.553858	0.00276	T	-0.564908	0.15918	T	0.0629830001162139	0.07630	T	0.541546	0.18382	T	0.04678642	0.07888	0.06189703	0.12024	0.04678642	0.07887	0.06189703	0.12023	-6.286	0.48611	T	.	.	0.158	0.35013	B	.	.	3.294974	0.45205	22.1	0.99675179453158946	0.78846	0.61489	0.31499	D	ALL	0.082369	0.16678	N	-0.594984893502177	0.19096	0.9967698	-0.560521619871351	0.20527	1.106322	0.999999999999447	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.68	1.76	0.23776	0.801000	0.26716	4.211000	0.42532	-0.223000	0.07921	0.640000	0.28085	1.000000	0.68203	0.746000	0.35646	0.2098:0.0:0.7902:0.0	8.038	0.29665	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	206.43	13	chr9	137077561	.	G	A	206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=187;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.114;SOR=1.085	GT:AD:DP:GQ:PL	0/1:10,10:20:99:218,0,187	9	0	1	0
chr9	137233357	137233357	G	A	exonic	SLC34A3	.	nonsynonymous SNV	SLC34A3:NM_001177316:exon7:c.G709A:p.D237N,SLC34A3:NM_001177317:exon7:c.G709A:p.D237N,SLC34A3:NM_080877:exon7:c.G709A:p.D237N	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	266140	Autosomal_recessive_hypophosphatemic_bone_disease|not_provided|not_specified|SLC34A3-related_disorder	MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0362433380852	0.0012	0.00179712	0.0033	0.0004	0.0013	0.0020	0.0050	0.0050	0.0044	0.0010	0.0017594	272	154602	rs145877051	0.0016	0.0016	0.0017	0.0016	0.0018	0.0016	0.0015	0.0018	0.0017	0.0003	0.0009	0.0001	0.0004	0.0016	0.0012	0.0018	0.0013	0.0009	0.0013	0.0013	0.0016	0.0011	0.0023	0.0012	0.0011	0.0020	0.0019	0.0004	0	0.0006	0.0003	0.0002	0.0008	0.0034	0.0023	0.0014	0.0021	0.074	0.34621	T	0.211	0.26631	T	1.0	0.90584	D	0.979	0.74454	D	0.063672	0.22008	N	0.358324	0.938001	0.37210	D	2.495	0.72670	M	1.45	0.32482	T	-3.51	0.68298	D	0.531	0.55972	-0.8852	0.49340	T	0.148	0.47433	T	10	0.023798913	0.00634	T	0.036243	0.56869	D	0.190	0.46781	.	.	0.644088342458	0.64114	0.5387511401383708	0.53800	0.213491521651	0.23864	0.569087922573	0.48547	T	0.468787	0.80258	T	-0.47145	0.00832	T	-0.455219	0.27122	T	0.0304338455490158	0.02057	T	0.743326	0.36245	T	0.20309533	0.42377	0.25089675	0.50690	0.24179618	0.47100	0.1890795	0.42234	-7.232	0.55710	T	0.15818058653472436	0.19152	0.107	0.20078	B	.;.	.;.	4.215701	0.63731	24.6	0.99884082704107957	0.95970	0.96871	0.71393	D	AEFDGBHCI	0.938592	0.93800	D	0.552229475642953	0.70218	5.469333	0.464535428457791	0.65657	4.851385	0.99999999999971	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.45	3.45	0.38602	9.569000	0.97327	3.219000	0.36843	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.498000	0.28972	0.0:0.0:1.0:0.0	12.777	0.56834	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	867.43	36	chr9	137233357	.	G	A	867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.329;DP=420;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.521;SOR=0.79	GT:AD:DP:GQ:PL	0/1:59,40:99:99:879,0,1398	9	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	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:80,37:117:99:421,0,1569	3	0	7	0
chr10	1020847	1020847	G	-	exonic	IDI2	.	frameshift deletion	IDI2:NM_033261:exon4:c.286delC:p.L96Wfs*9	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0010	0.0002	0.0024	0	0.0003	0.0011	0.0022	0.0009	0.0001537	4	26028	rs55836842	0.0009	0.0009	0.0008	0.0009	0.0027	0.0008	0.0008	0.0023	0.0021	0.0003	0.0027	0	0	0.0002	0.0009	0.0009	0.0007	0.0008	0.0009	0.0009	0.0008	0.0009	0.0035	0.0007	0.0007	0.0028	0.0025	0.0001	0	0.0035	0	0	0.0003	0	0.0009	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1793.39	34	chr10	1020846	.	AG	A	1793.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.84;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.07;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1805,0,1582	9	0	1	0
chr10	12089128	12089128	C	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon5:c.C860A:p.P287H	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.148822165553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466580366	3.42e-06	3.42e-06	2.722e-06	4.125e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.047471	1	0.81001	D	4.485	0.98931	H	2.48	0.14657	T	-8.57	0.97914	D	0.973	0.98368	-0.3303	0.74124	T	0.192	0.54463	T	10	0.94331145	0.93656	D	0.148822	0.83070	D	0.460	0.75755	0.766	0.89373	0.333906830038	0.33007	0.8404826852239251	0.84008	0.592714171257	0.54648	0.611454367638	0.54522	T	0.589454	0.86678	D	0.0648841	0.60220	T	-0.144575	0.59720	T	0.999790012836456	0.99036	D	0.957004	0.97117	D	0.97445446	0.98659	0.9525111	0.98549	0.97445446	0.98659	0.9525111	0.98550	-14.617	0.94889	D	0.9318885503713328	0.97239	0.980	0.91221	P	.;.	.;.	4.112867	0.61418	24.3	0.9961966012623229	0.75353	0.97332	0.74083	D	AEFDBI	0.863850	0.78249	D	0.75022465993534	0.82919	7.883394	0.58241640972932	0.73679	6.010266	0.999578823480067	0.40495	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.5	0.54382	6.088000	0.71022	7.575000	0.60810	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.1403:0.8597:0.0:0.0	15.404	0.74586	679	0.60090	Dehydrogenase, E1 component;Dehydrogenase, E1 component	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1505.43	78	chr10	12089128	.	C	A	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.591;DP=634;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-1.218;SOR=0.725	GT:AD:DP:GQ:PL	0/1:93,71:164:99:1517,0,2272	9	0	1	0
chr10	13192360	13192360	C	T	exonic	MCM10	.	nonsynonymous SNV	MCM10:NM_018518:exon12:c.C1622T:p.A541V,MCM10:NM_182751:exon12:c.C1625T:p.A542V	.	427	1094	1	0	0	1	0.00045683	.	.	.	701255	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0034	0.00379393	0.0011	0.0117	0.0004	0	0	8.993e-05	0	0	0.0010284	159	154602	rs114656409	0.0004	0.0004	0.0005	0.0003	0.0131	0.0004	0.0004	0.0121	0.0117	0.0131	0.0008	0	0	0	0.0002	3.329e-05	0.0009	2.327e-05	0.0033	0.0033	0.0035	0.0031	0.0114	0.0031	0.0030	0.0106	0.0102	0.0114	0	0.0012	0	0	0	0	4.41e-05	0.0033	0	0.366	0.11696	T	0.512	0.10785	T	0.0	0.02946	B	0.001	0.06944	B	0.265978	0.03741	N	1.371380	1	0.08975	N	0.625	0.15840	N	1.5	0.31205	T	-0.65	0.18877	N	0.03	0.00882	-1.0377	0.18016	T	0.015	0.06282	T	10	0.004601985	0.00096	T	.	.	.	0.032	0.07718	.	.	0.229924730088	0.22615	0.15392296973570052	0.15314	0.101500639394	0.11486	0.26300022006	0.05252	T	0.040551	0.25566	T	-0.689274	0.00042	T	-0.75184	0.03414	T	0.000861541235349673	0.00008	T	0.475952	0.14261	T	0.013979161	0.00076	0.026121147	0.00685	0.013979161	0.00076	0.026121147	0.00685	-4.408	0.30136	T	.	.	0.091	0.13032	B	.;.;.	.;.;.	1.137089	0.15243	11.70	0.47236871072844461	0.03846	0.19675	0.20752	N	AEFBI	0.081820	0.16561	N	-1.23257055854503	0.04535	0.2048546	-1.16671731340399	0.06473	0.3116936	8.81756434150225E-5	0.04703	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.52	1.54	0.22290	1.254000	0.32500	1.355000	0.25837	-0.214000	0.08267	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.151:0.5159:0.0:0.3331	4.523	0.11372	878	0.29785	.;Replication factor Mcm10, C-terminal|Replication factor Mcm10, C-terminal;Replication factor Mcm10, C-terminal|Replication factor Mcm10, 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1686.43	36	chr10	13192360	.	C	T	1686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.535;SOR=0.743	GT:AD:DP:GQ:PL	0/1:61,70:131:99:1698,0,1377	9	0	1	0
chr10	16915037	16915037	A	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon47:c.T7346C:p.M2449T	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1500	21	0	0	21	0.00695134	.	.	.	459738	Imerslund-Grasbeck_syndrome|not_provided|Imerslund-Grasbeck_syndrome_type_1|CUBN-related_disorder	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00339457	0.0044	0.0005	0.0010	0.0001	0.0002	0.0029	0.01	0.0190	0.0040556	627	154602	rs41301097	0.0033	0.0033	0.0028	0.0038	0.0181	0.0032	0.0032	0.0173	0.0170	0.0005	0.0011	0.0049	2.519e-05	0.0004	0.0084	0.0025	0.0036	0.0181	0.0021	0.0021	0.0021	0.0021	0.0155	0.0019	0.0018	0.0127	0.0117	0.0004	0	0.0004	0.0052	0	0.0002	0	0.0029	0.0019	0.0155	0.581	0.05973	T	0.55	0.09425	T	0.0	0.02946	B	0.001	0.04355	B	0.005953	0.01103	N	2.812850	1	0.08975	N	-0.73	0.01772	N	-0.86	0.74477	T	-0.01	0.07155	N	0.064	0.03613	-0.9600	0.39181	T	0.138	0.45526	T	10	0.0033961833	0.00059	T	.	.	.	0.058	0.16647	.	.	0.467416895013	0.46368	0.3127677485016908	0.31189	0.0900815735264	0.10158	0.21158324182	0.00880	T	0.034805	0.23469	T	-0.626878	0.00100	T	-0.658964	0.08337	T	0.00170003410307051	0.00017	T	0.150085	0.01260	T	0.039272573	0.05391	0.080931626	0.18350	0.039272573	0.05391	0.080931626	0.18349	-2.423	0.05276	T	0.06617062895478984	0.02237	0.064	0.01738	B	.	.	-0.028267	0.04090	0.960	0.17691399163817484	0.00526	0.08649	0.14548	N	AEFGI	0.083061	0.16824	N	-1.22731178148344	0.04608	0.2082969	-1.20217761194516	0.05875	0.2811844	0.677622759163957	0.22443	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.794256	0.99912	0	.	.	5.1	-1.28	0.08834	1.385000	0.34014	0.533000	0.19265	0.684000	0.82519	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.2886:0.3393:0.3721:0.0	4.945	0.13336	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	3081.55	34	chr10	16915037	.	A	G	3081.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.978;DP=448;ExcessHet=0.0405;FS=1.133;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.406;SOR=0.816	GT:AD:DP:GQ:PL	0/1:36,34:70:99:734,0,853	7	1	2	0
chr10	17849602	17849602	C	G	exonic	MRC1	.	nonsynonymous SNV	MRC1:NM_002438:exon7:c.C1087G:p.P363A	.	430	1020	63	9	0	81	0.0381895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0021	0.00479233	0.0094	0.0021	0.0031	0.0003	0.0014	0.0055	0.0168	0.0411	0.0078848	1219	154602	rs200175375	0.0082	0.0082	0.0061	0.0100	0.0385	0.0080	0.0079	0.0373	0.0368	0.0010	0.0035	0.0173	8.318e-05	0.0023	0.0159	0.0042	0.0084	0.0385	0.0045	0.0046	0.0042	0.0049	0.0347	0.0042	0.0041	0.0304	0.0288	0.0008	0.0658	0.0048	0.0176	0.0004	0.0014	0.0102	0.0039	0.0038	0.0347	0.01	0.56456	D	0.028	0.54934	D	0.936	0.52359	P	0.459	0.46380	P	0.000037	0.55875	U	0.000000	0.992972	0.41798	D	2.335	0.66956	M	1.71	0.26737	T	-4.38	0.77143	D	0.435	0.47395	-1.0788	0.07582	T	0.036	0.15726	T	10	0.0075841844	0.00172	T	.	.	.	.	.	.	.	0.319322697148	0.31537	0.5703013650427744	0.56958	.	.	0.556212007999	0.46733	T	0.426274	0.77612	T	-0.221424	0.17798	T	-0.555837	0.16769	T	0.868999540805817	0.51894	D	0.687331	0.29630	T	0.47543982	0.65622	0.26726636	0.52582	0.47543982	0.65623	0.26726636	0.52581	-6.71	0.51886	T	.	.	0.110	0.21353	B	.	.	3.894076	0.56683	23.8	0.95123332018983231	0.26223	0.97998	0.78750	D	AEFI	0.535084	0.55386	D	-0.00417378166605131	0.41667	2.496327	0.00753955804719451	0.40063	2.385124	1.55333678872863E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	3.4	0.38031	4.786000	0.62117	6.017000	0.52736	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.8332:0.1667:0.0	12.540	0.55508	928	0.17405	C-type lectin-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	0.013670	0.000000	0.011080	0.010638	0.000000	0.008772	0.021875	0.030769	0.1	1041.14	33	chr10	17849602	.	C	G	1041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.387;DP=346;ExcessHet=0.2348;FS=0.822;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.17;SOR=0.804	GT:AD:DP:GQ:PL	0/1:20,22:42:99:492,0,471	8	0	2	0
chr10	26088368	26088368	T	C	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon15:c.T1525C:p.Y509H	Deafness, autosomal recessive 30, Autosomal recessive	2	1515	5	0	0	5	0.00164745	.	.	.	229773	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_30|not_specified	MedGen:C3661900|MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.946	0.254308669371	0.0002	0.000399361	0.0002	0	8.654e-05	0	0	0.0002	0	0.0006	0.0002458	38	154602	rs150793986	0.0001	0.0001	9.258e-05	0.0002	0.0040	0.0001	0.0001	0.0027	0.0023	0.0001	0.0003	0.0004	0	0	0.0040	8.184e-05	0.0002	0.0005	0.0001	0.0001	0.0002	9.395e-05	0.0006	8.656e-05	7.25e-05	0.0002	8.992e-05	0	0	0.0003	0	0	0	0.0034	0.0001	0.0014	0.0006	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	3.575	0.93507	H	-1.27	0.89757	T	-5.0	0.82341	D	0.944	0.96072	1.016	0.97458	D	0.881	0.96052	D	10	0.8189722	0.81115	D	0.254309	0.89246	D	0.946	0.98921	.	.	0.957487040325	0.95703	0.7366958380325841	0.73614	0.428749604982	0.43190	0.868579149246	0.92364	D	0.74238	0.94823	D	0.194641	0.73392	D	0.409404	0.92413	D	0.713415205478668	0.41368	D	0.981502	0.93758	D	0.9232796	0.93568	0.9091364	0.95627	0.9321532	0.94453	0.9057762	0.95388	-14.647	0.94970	D	0.63214911936297	0.70170	0.842	0.85185	P	.;.;.	.;.;.	4.883308	0.80103	27.2	0.99863828585974812	0.94184	0.98590	0.84440	D	AEFI	0.923366	0.89975	D	0.988633879274926	0.95384	13.56882	0.906847046376594	0.95865	14.04819	0.999747611209563	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	8.014000	0.88267	7.906000	0.73790	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.97	0.79799	915	0.20917	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;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.005435	0.002941	0.050000	0.000000	0.000000	0.000000	0.05	1733.43	34	chr10	26088368	.	T	C	1733.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.436;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.522;SOR=0.693	GT:AD:DP:GQ:PL	0/1:74,74:148:99:1745,0,1731	9	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I,SVIL:NM_001323600:exon21:c.G2997A:p.M999I,SVIL:NM_021738:exon22:c.G4179A:p.M1393I,SVIL:NM_001323599:exon23:c.G3249A:p.M1083I	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	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	0.029412	0.060811	0.016484	0.039474	0.000000	0.052632	0.025926	0.025000	0.15	362.45	112	chr10	29490860	.	C	T	362.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.26;DP=720;ExcessHet=0.7463;FS=70.302;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.16;MQRankSum=-9.961;QD=1.1;ReadPosRankSum=-4.361;SOR=4.882	GT:AD:DP:GQ:PL	0/1:102,12:114:51:51,0,2775	7	0	3	0
chr10	49323092	49323092	A	T	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.A547T:p.S183C	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0092	0.00758786	0.0079	0.0022	0.0070	0.0001	0.0038	0.0102	0.0100	0.0085	0.0080529	1245	154602	rs41281949	0.0100	0.0100	0.0101	0.0100	0.0177	0.0099	0.0098	0.0149	0.0139	0.0019	0.0076	0.0145	2.519e-05	0.0029	0.0177	0.0110	0.0103	0.0086	0.0074	0.0074	0.0079	0.0069	0.0116	0.0070	0.0069	0.0109	0.0106	0.0017	0.0011	0.0088	0.0130	0.0002	0.0025	0.0170	0.0116	0.0104	0.0068	0.006	0.61437	D	0.021	0.58089	D	.	.	.	.	.	.	0.002841	0.35836	N	0.125201	1	0.08975	N	.	.	.	3.55	0.04746	T	-2.0	0.46146	N	0.153	0.15749	-1.0760	0.08144	T	0.015	0.05897	T	10	0.004517913	0.00093	T	.	.	.	0.119	0.33137	.	.	0.208816687407	0.20498	0.1403066803866565	0.13953	0.759636425302	0.64181	.	.	.	.	.	.	-0.596055	0.00154	T	-0.617937	0.11346	T	0.0422895865630386	0.04108	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15877	B	.	.	2.959241	0.39404	21.0	0.9859016734628997	0.43362	0.69784	0.34326	D	AEFDBI	0.175174	0.30233	N	-0.12324221307663	0.36382	2.102203	-0.143773871986047	0.33648	1.92701	0.996569867985503	0.34833	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.19	3.24	0.36257	0.697000	0.25234	2.098000	0.30587	0.756000	0.94297	0.031000	0.20493	0.980000	0.30356	0.993000	0.69303	0.2657:0.0:0.7343:0.0	8.458	0.32074	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	0.018630	0.015152	0.023098	0.026316	0.000000	0.017241	0.009146	0.022727	0.05	1712.43	36	chr10	49323092	.	A	T	1712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.587;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.077;SOR=0.652	GT:AD:DP:GQ:PL	0/1:87,77:164:99:1724,0,2185	9	0	1	0
chr10	50196903	50196903	A	C	exonic	ASAH2	.	nonsynonymous SNV	ASAH2:NM_001143974:exon17:c.T1769G:p.L590R,ASAH2:NM_019893:exon18:c.T1874G:p.L625R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00452053700748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.63226	D	0.062	0.46632	T	0.981	0.70673	D	0.882	0.66367	P	0.000144	0.49130	U	0.083603	0.99791	0.44315	D	.	.	.	0.88	0.46028	T	-3.5	0.68880	D	0.297	0.37301	-0.6106	0.64378	T	0.246	0.61506	T	10	0.34987587	0.51871	T	0.026925	0.49793	D	0.260	0.57221	0.54	0.65161	0.685586197109	0.68289	0.7613202654295284	0.76080	4.31666214769	0.99941	0.521500170231	0.41838	T	0.580063	0.86235	D	-0.084003	0.39062	T	-0.358441	0.38233	T	0.983202278614044	0.74958	D	0.829517	0.49484	T	0.724816	0.79431	0.47614092	0.69645	0.724816	0.79432	0.47614092	0.69646	-4.839	0.36600	T	.	.	0.195	0.44784	B	.;.;.;.	.;.;.;.	4.797996	0.77929	26.8	0.99707277048163434	0.81074	0.93723	0.59007	D	AEFI	0.622676	0.60691	D	0.467319785649239	0.65194	4.791763	0.373515113805877	0.59935	4.175992	0.134370059285585	0.17153	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.17	4.17	0.48303	6.358000	0.72997	11.125000	0.86648	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.449	0.49383	768	0.49510	Neutral/alkaline non-lysosomal ceramidase, C-terminal;Neutral/alkaline non-lysosomal ceramidase, C-terminal;.;Neutral/alkaline non-lysosomal ceramidase, 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	.	.	.	.	.	.	.	.	0.05	1166.43	35	chr10	50196903	.	A	C	1166.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.013;DP=798;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.75;MQRankSum=-4.79;QD=2.41;ReadPosRankSum=-2.621;SOR=0.721	GT:AD:DP:GQ:PL	0/1:392,93:485:99:1178,0,9199	9	0	1	0
chr10	50745144	50745144	T	G	exonic	ASAH2B	.	nonsynonymous SNV	ASAH2B:NM_001321958:exon3:c.T14G:p.L5R,ASAH2B:NM_001321959:exon3:c.T14G:p.L5R,ASAH2B:NM_001321960:exon4:c.T14G:p.L5R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.022331524186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.242e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.878586	0.81001	D	.	.	.	0.88	0.46028	T	-3.93	0.73267	D	0.309	0.34874	-0.5624	0.66312	T	0.222	0.58588	T	8	0.26419553	0.43905	T	0.022332	0.45207	T	0.189	0.46613	0.326	0.30873	0.19670166235	0.19296	.	.	.	.	.	.	.	.	.	.	-0.101908	0.36107	T	-0.38416	0.35234	T	0.731503274322146	0.42288	D	0.79622	0.43953	T	.	.	.	.	.	.	.	.	-3.879	0.21988	T	.	.	0.316	0.54206	B	.;.	.;.	5.252751	0.88193	29.5	0.99483320659641361	0.67014	0.85915	0.45105	D	AEFI	0.529141	0.55038	D	0.252196022796193	0.53747	3.542327	0.120930673402228	0.45622	2.822028	0.00789116529896613	0.11567	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.68	2.68	0.30839	5.639000	0.67541	7.786000	0.68781	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	8.854	0.34373	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	74.79	3	chr10	50745144	.	T	G	74.79	.	AC=2;AF=0.111;AN=18;DP=60;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=31.93;QD=27.99;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:50745132_T_C:90,6,0:50745132	8	1	0	1
chr10	50814012	50814012	C	T	exonic	A1CF	.	nonsynonymous SNV	A1CF:NM_001370130:exon9:c.G1168A:p.G390S,A1CF:NM_001370131:exon9:c.G1192A:p.G398S,A1CF:NM_014576:exon10:c.G1168A:p.G390S,A1CF:NM_138932:exon10:c.G1192A:p.G398S,A1CF:NM_138933:exon10:c.G1192A:p.G398S,A1CF:NM_001198818:exon11:c.G1168A:p.G390S,A1CF:NM_001198820:exon11:c.G1192A:p.G398S,A1CF:NM_001198819:exon12:c.G1216A:p.G406S	.	436	1080	6	0	0	6	0.00277008	.	.	.	712394	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.184	0.00585951008995	0.0062	0.00299521	0.0053	0.0014	0.0057	0	0.0015	0.0082	0.0099	0.0001	0.0055756	862	154602	rs41274050	0.0079	0.0079	0.0081	0.0077	0.0096	0.0078	0.0078	0.0095	0.0094	0.0011	0.0057	0.0029	5.04e-05	0.0015	0.0017	0.0096	0.0068	0.0004	0.0059	0.0059	0.0063	0.0054	0.0092	0.0056	0.0054	0.0087	0.0084	0.0020	0	0.0090	0.0035	0	0.0013	0.0034	0.0092	0.0090	0	0.087	0.43708	T	0.188	0.35082	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	2.59	0.13434	T	-1.87	0.46673	N	0.554	0.60833	-1.2060	0.00110	T	0.059	0.24649	T	10	0.010407537	0.00232	T	0.00586	0.15251	T	0.184	0.45763	.	.	0.262662153117	0.25859	0.9092499019433491	0.90898	0.367760386718	0.38341	0.719402909279	0.69960	T	0.18271	0.53482	T	-0.23204	0.16379	T	-0.0966904	0.63653	T	0.0335295125840791	0.02559	T	0.842116	0.52631	T	0.28508615	0.51532	0.28800702	0.54814	0.28508615	0.51532	0.28800702	0.54813	-4.566	0.35791	T	.	.	0.132	0.29477	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.819364	0.55138	23.6	0.99904307623406652	0.97502	0.98353	0.81919	D	AEFBI	0.924327	0.90218	D	0.484645836315249	0.66193	4.918595	0.574462375217899	0.73114	5.917886	0.999999268536934	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.87	5.87	0.94266	5.647000	0.67597	4.853000	0.45395	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.713	0.88234	692	0.58729	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1642.43	34	chr10	50814012	.	C	T	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.203;DP=503;ExcessHet=0;FS=0.567;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.36;SOR=0.616	GT:AD:DP:GQ:PL	0/1:101,73:174:99:1654,0,2457	9	0	1	0
chr10	71285401	71285401	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon4:c.G524A:p.R175H,UNC5B:NM_170744:exon4:c.G524A:p.R175H	.	433	1088	1	0	0	1	0.000459348	.	.	.	3345027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.0256822170611	0.0007	.	0.0005	0	0	0	0	0.0010	0	0	0.0003363	52	154602	rs138539665	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	8.977e-05	0.0002	0.0014	5.076e-05	0	0.0003	0.0003	0.0004	0	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0002	0.0003	0.0003	2.412e-05	0	6.542e-05	0.0017	0	0	0	0.0004	0	0	0.029	0.45756	D	0.103	0.38450	T	0.996	0.68779	D	0.839	0.60107	P	0.000003	0.62929	D	0.107459	1	0.81001	D	1.75	0.45442	L	-0.28	0.67543	T	-3.6	0.69357	D	0.784	0.78072	-0.2600	0.76088	T	0.371	0.73008	T	10	0.41216046	0.56298	T	0.025682	0.48637	D	0.444	0.74657	.	.	0.886985081077	0.88587	0.5465969804583237	0.54585	0.648183044756	0.58173	0.697296738625	0.66753	T	0.408721	0.76397	T	-0.0894567	0.38166	T	-0.0403336	0.67679	D	0.455139070749283	0.30986	T	0.976902	0.91973	D	0.29057732	0.52046	0.18979475	0.42346	0.29057732	0.52046	0.18979475	0.42345	-7.241	0.56160	T	.	.	0.132	0.28492	B	.;.	.;.	5.583511	0.92323	32	0.99954946071032791	0.99969	0.95953	0.66872	D	AEFDGBHCI	0.917334	0.88479	D	0.693392479555524	0.79197	7.027627	0.696735650105581	0.82131	7.691595	1.0	0.98316	0.631981	0.41245	0	0.600433	0.49495	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.84	4.84	0.62125	9.999000	0.99362	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0:0.0:1.0:0.0	17.957	0.88992	884	0.28482	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	0.001011	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1427.43	42	chr10	71285401	.	G	A	1427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.357;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.647;SOR=0.732	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1439,0,1265	9	0	1	0
chr10	71725421	71725421	G	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon29:c.G3480T:p.M1160I,CDH23:NM_022124:exon29:c.G3480T:p.M1160I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1497	24	0	1	25	0.00795229	.	.	YES	55084	not_specified|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	.	8e-05	0.00219649	0.0022	0.0001	0.0003	0.0002	0	0.0002	0.0011	0.0148	0.0018176	281	154602	rs111033519	0.0010	0.0010	0.0006	0.0015	0.0142	0.0010	0.0010	0.0136	0.0133	2.987e-05	2.236e-05	0.0003	2.519e-05	0	0.0029	0.0002	0.0011	0.0142	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	2.406e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0133	.	.	.	0.514	0.26306	T	0.004	0.12183	B	0.013	0.16460	B	0.001150	0.40056	N	0.208576	1	0.81001	D	-0.67	0.02046	N	.	.	.	.	.	.	0.509	0.54059	-1.0268	0.21494	T	0.112	0.40052	T	9	0.007078856	0.00161	T	.	.	.	0.054	0.15330	0.475	0.55182	0.779814296898	0.77778	0.2157758739904076	0.21493	.	.	0.341554939747	0.16671	T	0.002114	0.37696	T	-0.38314	0.02976	T	-0.310807	0.43571	T	0.0534730017488531	0.06100	T	0.888711	0.61924	D	0.5319244	0.68940	0.5611373	0.74607	0.53026617	0.68846	0.5982625	0.76669	-1.621	0.02031	T	.	.	0.282	0.51489	B	.;.;.;.	.;.;.;.	3.312176	0.45517	22.1	0.9708094472198836	0.32281	0.92845	0.56686	D	AEFDBI	0.550311	0.56283	D	-0.240729420628005	0.31474	1.765275	-0.0102873979785231	0.39250	2.324314	0.999999440875665	0.74766	0.403107	0.06075	0	0.491513	0.07743	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	2.078000	0.41191	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.639	0.91347	826	0.39940	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|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	0.003525	0.000000	0.000000	0.002924	0.050000	0.008621	0.003049	0.011364	0.05	1650.43	36	chr10	71725421	.	G	T	1650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.407;DP=475;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.983;SOR=0.688	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1662,0,1833	9	0	1	0
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.05	1351.43	34	chr10	73498685	.	C	T	1351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.144;DP=423;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-1.029;SOR=0.578	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1363,0,1368	9	0	1	0
chr10	73773652	73773652	G	A	exonic	FUT11	.	nonsynonymous SNV	FUT11:NM_001284194:exon2:c.G1171A:p.V391I,FUT11:NM_173540:exon2:c.G1171A:p.V391I	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0002	0.00259585	0.0022	9.612e-05	0.0004	0.0001	0	0.0007	0.0033	0.0129	0.0019405	300	154602	rs199728665	0.0011	0.0011	0.0007	0.0015	0.0132	0.0011	0.0010	0.0125	0.0123	0.0001	0.0002	0.0033	2.519e-05	0	0.0092	0.0002	0.0017	0.0132	0.0008	0.0008	0.0007	0.0010	0.0141	0.0007	0.0007	0.0114	0.0104	2.405e-05	0	0.0004	0.0035	0.0002	0	0.0034	0.0005	0.0009	0.0141	0.041	0.41915	D	0.137	0.36901	T	0.964	0.57185	D	0.477	0.51145	P	0.000008	0.62929	N	0.108661	0.999994	0.58761	D	1.64	0.41913	L	1.79	0.25509	T	-0.84	0.22944	N	0.127	0.12055	-1.0971	0.04460	T	0.080	0.31615	T	10	0.017232686	0.00367	T	.	.	.	0.135	0.36572	.	.	0.292787519742	0.28880	0.5818986279450149	0.58118	0.738194856103	0.63100	0.480741262436	0.36159	T	0.023254	0.17785	T	-0.501132	0.00563	T	-0.481587	0.24278	T	0.0616751302615466	0.07429	T	0.847215	0.52823	T	0.11704553	0.27598	0.08787583	0.20454	0.11704553	0.27597	0.08787583	0.20453	-5.451	0.42765	T	.	.	0.085	0.23640	B	.;.	.;.	3.678221	0.52339	23.2	0.99409850853075798	0.63216	0.88408	0.48322	D	AEFDGBCI	0.693346	0.65271	D	0.285157580618396	0.55396	3.703654	0.329905911206999	0.57304	3.895676	0.999999999439754	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	5.68	4.78	0.60666	5.634000	0.67507	7.541000	0.60087	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1564:0.0:0.8436:0.0	11.360	0.48875	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.026515	0.05	2344.43	37	chr10	73773652	.	G	A	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.269;DP=496;ExcessHet=0;FS=4.582;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.432;SOR=1.053	GT:AD:DP:GQ:PL	0/1:72,95:167:99:2356,0,1664	9	0	1	0
chr10	89644750	89644750	G	A	exonic	PANK1	.	nonsynonymous SNV	PANK1:NM_148977:exon1:c.C553T:p.R185W	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.893785236144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216160652	3.661e-06	5.472e-06	2.891e-06	4.451e-06	2.576e-05	1.07e-06	7.8e-07	4.28e-06	1.6e-06	0	0	0	0	0	0	2.8e-06	0	2.576e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.012	0.63918	D	0.004	0.12183	B	0.001	0.04355	B	0.106261	0.19623	N	0.387665	0.746027	0.33875	D	0.805	0.20218	L	-6.33	0.99658	D	-1.32	0.32991	N	0.379	0.42050	0.689	0.93038	D	0.913	0.97126	D	10	0.31367874	0.48816	T	0.893785	0.99196	D	0.272	0.58758	0.309	0.28128	0.935163521025	0.93449	0.32624369723851926	0.32537	1.24120643422	0.81571	0.916227579117	0.98023	D	0.229259	0.59503	T	0.0530311	0.58733	T	-0.161601	0.58208	T	0.549784531775021	0.34469	D	0.70113	0.31087	T	0.18865488	0.40373	0.23153296	0.48288	0.18865488	0.40373	0.23153296	0.48287	-5.084	0.37738	T	.	.	0.108	0.20625	B	.	.	3.698883	0.52748	23.3	0.99864833052154334	0.94276	0.67447	0.33436	D	ALL	0.211764	0.33752	N	-0.522076011348436	0.21367	1.13344	-0.427543650558786	0.24193	1.323438	0.999999989704128	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.22	2.26	0.27418	2.616000	0.46041	4.431000	0.43351	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.438000	0.27627	0.0752:0.1308:0.5248:0.2692	4.728	0.12329	567	0.70732	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	301.43	28	chr10	89644750	.	G	A	301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=248;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.049;SOR=1.27	GT:AD:DP:GQ:PL	0/1:16,11:27:99:313,0,403	9	0	1	0
chr10	99724042	99724042	G	A	exonic	COX15	.	nonsynonymous SNV	COX15:NM_001320974:exon5:c.C664T:p.R222C,COX15:NM_001320975:exon5:c.C664T:p.R222C,COX15:NM_001320976:exon5:c.C127T:p.R43C,COX15:NM_001372024:exon5:c.C664T:p.R222C,COX15:NM_001372025:exon5:c.C664T:p.R222C,COX15:NM_001372026:exon5:c.C664T:p.R222C,COX15:NM_001372027:exon5:c.C664T:p.R222C,COX15:NM_001372028:exon5:c.C664T:p.R222C,COX15:NM_004376:exon5:c.C664T:p.R222C,COX15:NM_078470:exon5:c.C664T:p.R222C	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	YES	737684	Leigh_syndrome|not_provided|COX15-related_disorder	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.886	0.376663030316	0.0002	0.00139776	0.0005	0	8.637e-05	0.0054	0.0002	0.0001	0	0.0001	0.0004786	74	154602	rs2231682	0.0006	0.0006	0.0006	0.0006	0.0151	0.0005	0.0005	0.0141	0.0137	2.987e-05	4.472e-05	0.0005	0.0151	0	0	0.0001	0.0005	5.797e-05	0.0003	0.0004	0.0003	0.0004	0.0075	0.0003	0.0002	0.0057	0.0050	4.816e-05	0	0	0	0.0075	0	0	0.0002	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.052347	1	0.81001	D	3.92	0.96251	H	-1.86	0.84341	D	-7.68	0.95574	D	0.854	0.85027	1.012	0.97396	D	0.855	0.95152	D	10	0.03636244	0.01930	T	0.376663	0.92874	D	0.886	0.96688	.	.	0.954063321398	0.95357	0.895539446260645	0.89524	0.634923566102	0.57331	0.874183833599	0.93161	D	0.982401	0.99868	D	0.115891	0.65957	D	0.395474	0.91964	D	0.298563845630358	0.24944	T	0.998312	0.99192	D	0.95614475	0.96889	0.86625063	0.92607	0.95614475	0.96889	0.86625063	0.92608	-8.521	0.74187	D	0.9007248061856435	0.95228	0.606	0.77260	P	.;.	.;.	6.115536	0.94596	34	0.99918568919253758	0.98586	0.97913	0.78077	D	AEFBI	0.779351	0.71157	D	0.889748262111409	0.91249	10.78858	0.765627657658323	0.87320	9.181473	0.999685951961489	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	5.894000	0.69546	11.901000	0.99356	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.812	0.88531	698	0.58074	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1023.43	35	chr10	99724042	.	G	A	1023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.268;DP=419;ExcessHet=0;FS=0.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.125;SOR=0.81	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1035,0,1170	9	0	1	0
chr10	99842038	99842038	A	G	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon26:c.A3686G:p.Y1229C	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.210719070683	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768072382	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.016	0.60972	D	0.947	0.53479	P	0.895	0.63489	P	0.000556	0.43413	D	0.239425	0.546593	0.31369	N	2.865	0.83145	M	-2.53	0.89430	D	-0.97	0.25770	N	0.479	0.51405	0.441	0.89702	D	0.735	0.90933	D	10	0.7284553	0.74133	D	0.210719	0.87267	D	0.589	0.83582	0.539	0.65018	0.895856245955	0.89483	0.5916984403449667	0.59099	0.257723927527	0.28330	0.487130969763	0.37041	T	0.392999	0.75252	T	0.22698	0.76436	D	0.0882642	0.76130	D	0.951671004295349	0.63615	D	0.969903	0.89155	D	0.27669314	0.50730	0.22339539	0.47216	0.27669314	0.50730	0.22339539	0.47215	-4.054	0.24609	T	0.33381327787473924	0.43178	0.125	0.26514	B	.;.	.;.	3.514191	0.49230	22.7	0.99251597801474845	0.56891	0.84970	0.44068	D	AEDBI	0.473921	0.51840	N	0.305083538303812	0.56408	3.805579	0.201519155611353	0.49932	3.190674	0.999999504176816	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.478664	0.07449	1	0.620846	0.47308	0	.	.	6.16	5.02	0.66742	2.308000	0.43350	5.956000	0.51737	0.754000	0.88378	0.114000	0.23067	1.000000	0.68203	0.137000	0.19835	0.6207:0.1868:0.0728:0.1196	3.452	0.07071	764	0.49969	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2071.43	33	chr10	99842038	.	A	G	2071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.061;DP=478;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.437;SOR=0.723	GT:AD:DP:GQ:PL	0/1:85,90:175:99:2083,0,1979	9	0	1	0
chr10	100989084	100989084	C	A	exonic	TWNK	.	nonsynonymous SNV	TWNK:NM_001163812:exon1:c.C874A:p.P292T,TWNK:NM_021830:exon1:c.C874A:p.P292T	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	481146	not_provided|Infantile_onset_spinocerebellar_ataxia|Perrault_syndrome_5	MedGen:C3661900|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186|MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.729	0.153055471878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.526e-06	7.524e-06	1.089e-05	4.126e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.27080	T	0.206	0.27056	T	0.959	0.90584	D	0.625	0.92359	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.685	0.78553	M	-2.97	0.92007	D	-2.52	0.58896	D	0.73	0.73105	0.704	0.93224	D	0.856	0.95193	D	10	0.8389269	0.83046	D	0.153055	0.83438	D	0.729	0.90501	0.51	0.60693	0.831548490484	0.82994	0.7709927646158667	0.77048	1.47156410767	0.86541	.	.	.	0.339439	0.70858	T	0.301959	0.83126	D	0.195967	0.82908	D	0.955702722072601	0.64574	D	0.922208	0.72323	D	0.2970909	0.52642	0.25431392	0.51094	0.26239753	0.49301	0.22142878	0.46951	-7.049	0.55875	T	0.644717438624265	0.71596	0.191	0.40968	B	.;.	.;.	3.363054	0.46435	22.3	0.98785495211574903	0.46206	0.98865	0.87884	D	AEFGBCI	0.875129	0.79838	D	0.579339852274448	0.71886	5.719605	0.555650212520025	0.71790	5.709039	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.79	5.79	0.91751	7.558000	0.81210	7.641000	0.63200	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:1.0:0.0:0.0	18.622	0.91282	552	0.72024	Archaeal primase DnaG/twinkle, TOPRIM 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	.	.	.	.	.	.	.	.	0.05	2585.43	33	chr10	100989084	.	C	A	2585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.38;DP=549;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.52;SOR=0.53	GT:AD:DP:GQ:PL	0/1:117,106:223:99:2597,0,2968	9	0	1	0
chr10	101843535	101843535	C	T	exonic	KCNIP2	.	nonsynonymous SNV	KCNIP2:NM_014591:exon1:c.G34A:p.D12N,KCNIP2:NM_173191:exon1:c.G34A:p.D12N,KCNIP2:NM_173192:exon1:c.G34A:p.D12N,KCNIP2:NM_173193:exon1:c.G34A:p.D12N,KCNIP2:NM_173195:exon1:c.G34A:p.D12N,KCNIP2:NM_173197:exon1:c.G34A:p.D12N	.	.	.	.	.	.	.	.	.	.	.	4158756	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0246442223573	.	.	0.0001	0	0	0.0020	0	0	0	0	4.53e-05	7	154602	rs776223860	1.821e-05	2.873e-05	1.809e-05	1.834e-05	0.0006	1.267e-05	1.077e-05	0.0004	0.0003	0	0	0	0.0006	0	0	3.648e-06	0	1.232e-05	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.073	0.65419	T	0.621	0.34716	T	0.938	0.52538	P	0.315	0.41566	B	0.069135	0.21625	N	0.400446	0.975	0.39110	D	1.355	0.33814	L	-0.48	0.70365	T	-0.78	0.21644	N	0.278	0.43995	-0.6097	0.64416	T	0.174	0.51722	T	10	0.07178038	0.10627	T	0.024644	0.47637	T	0.178	0.44724	0.084	0.00795	0.779952407381	0.77792	0.5220711261260678	0.52130	0.943382254411	0.72301	0.77399212122	0.78022	T	0.143489	0.47963	T	-0.150234	0.28273	T	-0.453577	0.27303	T	0.17380709809735	0.18836	T	0.959504	0.85511	D	0.15240379	0.34598	0.18398458	0.41422	0.15240379	0.34597	0.18398458	0.41422	-4.157	0.30162	T	.	.	0.225	0.56786	B	.;.;.;.;.;.	.;.;.;.;.;.	5.533578	0.91895	32	0.99826853093649248	0.90939	0.85173	0.44283	D	AEFBHCI	0.801383	0.72711	D	0.160071186856846	0.49291	3.131042	0.307890691206296	0.56002	3.763158	0.999999999999859	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.98	4.98	0.65679	4.903000	0.62964	7.485000	0.59302	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.195	0.81835	441	0.80015	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	34	chr10	101843535	.	C	T	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.612;DP=384;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.973;SOR=0.468	GT:AD:DP:GQ:PL	0/1:34,29:63:99:629,0,709	9	0	1	0
chr10	102139290	102139290	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.C782T:p.A261V,PPRC1:NM_001288728:exon5:c.C422T:p.A141V,PPRC1:NM_015062:exon5:c.C782T:p.A261V	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0191291148558	0.0035	0.00119808	0.0023	0.0015	0.0017	0	0.0023	0.0034	0.0022	6.057e-05	0.0022768	352	154602	rs143974270	0.0027	0.0027	0.0028	0.0027	0.0032	0.0027	0.0026	0.0031	0.0031	0.0007	0.0018	0.0011	0	0.0017	0.0023	0.0032	0.0029	9.275e-05	0.0023	0.0023	0.0023	0.0022	0.0040	0.0021	0.0020	0.0036	0.0034	0.0006	0	0.0018	0.0012	0	0.0010	0	0.0040	0.0028	0.0002	0.003	0.68238	D	0.223	0.28958	T	0.666	0.41077	P	0.212	0.37394	B	0.546470	0.11481	N	0.808765	0.994645	0.23474	N	1.895	0.50365	L	1.51	0.30937	T	-0.85	0.23156	N	0.211	0.25989	-1.0793	0.07485	T	0.043	0.18285	T	10	0.008001208	0.00182	T	0.019129	0.41408	T	0.046	0.12618	.	.	0.117191471859	0.11215	0.15601887986791266	0.15522	0.458757001523	0.45483	0.383677124977	0.22777	T	0.030192	0.41828	T	-0.492022	0.00633	T	-0.477059	0.24759	T	0.0175856112841407	0.00492	T	0.90281	0.66017	D	0.05048767	0.09128	0.0835837	0.19166	0.05048767	0.09127	0.0835837	0.19166	-3.585	0.17640	T	.	.	0.131	0.28116	B	.;.	.;.	2.306861	0.29522	18.15	0.99899801724188109	0.97199	0.88636	0.48657	D	AEFBCI	0.141539	0.26374	N	-0.107490404750593	0.37065	2.151202	-0.0219869607102701	0.38725	2.285586	0.617663790996597	0.21856	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	3.7	0.41607	0.821000	0.26993	-0.293000	0.10176	0.599000	0.40250	0.078000	0.22289	0.002000	0.18203	0.922000	0.45779	0.1451:0.7155:0.1394:0.0	11.033	0.47002	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1211.43	34	chr10	102139290	.	C	T	1211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.725;DP=432;ExcessHet=0;FS=1.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.985;SOR=0.952	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1223,0,1239	9	0	1	0
chr10	118336373	118336373	C	T	exonic	FAM204A	.	nonsynonymous SNV	FAM204A:NM_001134672:exon2:c.G43A:p.A15T,FAM204A:NM_022063:exon3:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	4125521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00632246015218	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765376062	1.437e-05	1.437e-05	1.771e-05	1.101e-05	1.8e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.8e-05	0	1.16e-05	3.29e-05	3.285e-05	1.286e-05	5.39e-05	7.253e-05	1.262e-05	7.99e-06	1.923e-05	1.033e-05	7.253e-05	0	6.563e-05	0	0	0	0	1.47e-05	0	0	0.022	0.52492	D	0.037	0.54159	D	0.501	0.37169	P	0.062	0.26930	B	0.247884	0.15572	N	0.633028	1	0.08975	N	0	0.06538	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0646	0.10642	T	0.041	0.17700	T	9	0.05672142	0.06401	T	0.006322	0.16610	T	0.205	0.49236	0.102	0.01589	0.0482279557977	0.04254	0.40897796532580216	0.40813	0.211961697235	0.23693	0.26521062851	0.05527	T	0.029674	0.21209	T	-0.266819	0.12114	T	-0.621043	0.11105	T	0.0795878937593602	0.09934	T	0.692631	0.30204	T	0.042350654	0.06407	0.06701561	0.13805	0.042350654	0.06407	0.06701561	0.13805	-2.632	0.06750	T	.	.	0.066	0.02399	B	.;.;.	.;.;.	2.025197	0.25739	16.87	0.93976475013754801	0.24054	0.37953	0.25878	N	AEFBI	0.036275	0.04807	N	-0.750294266246002	0.14624	0.73011	-0.736247108598667	0.16062	0.8478576	0.151196247893007	0.17443	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	-1.6	0.07977	0.121000	0.15496	-0.096000	0.11999	-0.182000	0.10109	0.965000	0.33920	0.000000	0.08366	0.750000	0.35786	0.0:0.4777:0.0:0.5223	11.177	0.47830	775	0.48401	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	115.43	75	chr10	118336373	.	C	T	115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.189;DP=572;ExcessHet=0;FS=284.034;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=-0.218;SOR=7.903	GT:AD:DP:GQ:PL	0/1:59,28:87:99:127,0,958	9	0	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	0.15	5343.45	151	chr10	122216727	.	C	T	5343.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.441;DP=695;ExcessHet=0.7463;FS=1.107;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.3;SOR=0.62	GT:AD:DP:GQ:PL	0/1:80,55:135:99:1246,0,1990	7	0	3	0
chr10	122415920	122415920	G	A	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon5:c.G386A:p.S129N,PLEKHA1:NM_001377253:exon6:c.G386A:p.S129N,PLEKHA1:NM_001377255:exon6:c.G386A:p.S129N,PLEKHA1:NM_001377257:exon6:c.G386A:p.S129N,PLEKHA1:NM_001001974:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377237:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377241:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377245:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377250:exon7:c.G521A:p.S174N,PLEKHA1:NM_001377254:exon7:c.G386A:p.S129N,PLEKHA1:NM_001377258:exon7:c.G530A:p.S177N,PLEKHA1:NM_001195608:exon8:c.G530A:p.S177N,PLEKHA1:NM_001330178:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377230:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377235:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377238:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377240:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377244:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377246:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377247:exon8:c.G497A:p.S166N,PLEKHA1:NM_001377248:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377249:exon8:c.G470A:p.S157N,PLEKHA1:NM_001377251:exon8:c.G497A:p.S166N,PLEKHA1:NM_001377256:exon8:c.G404A:p.S135N,PLEKHA1:NM_021622:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377232:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377234:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377242:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377243:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377231:exon10:c.G530A:p.S177N	.	436	1063	23	0	0	23	0.0107027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00454835999098	0.0012	0.000599042	0.0017	0.0002	0.0006	0	0.0002	0.0019	0	0.0044	0.0015912	246	154602	rs142473166	0.0015	0.0015	0.0013	0.0017	0.0132	0.0015	0.0014	0.0108	0.0099	0.0004	0.0015	0.0064	2.522e-05	0.0001	0.0132	0.0013	0.0021	0.0040	0.0014	0.0014	0.0014	0.0013	0.0029	0.0012	0.0011	0.0019	0.0016	0.0002	0	0.0025	0.0066	0	0.0003	0.0136	0.0016	0.0024	0.0029	0.095	0.31682	T	0.176	0.29843	T	0.103	0.25884	B	0.038	0.23361	B	0.000000	0.84330	D	0.035879	0.999923	0.51308	D	1.965	0.53209	M	2.55	0.13795	T	-1.08	0.30140	N	0.263	0.39659	-1.1953	0.00188	T	0.062	0.25994	T	10	0.0063737035	0.00144	T	0.004548	0.11220	T	0.117	0.32689	.	.	0.270001397563	0.26616	0.36486402632052306	0.36400	0.47080475657	0.46347	0.578641235828	0.49895	T	0.28229	0.65502	T	-0.600382	0.00145	T	-0.63634	0.09938	T	0.0294323261235955	0.01903	T	0.822018	0.48145	T	0.25771642	0.48817	0.2700995	0.52898	0.25771642	0.48817	0.2700995	0.52897	-11.14	0.80420	D	.	.	0.111	0.37350	B	.;.;.;.;.	.;.;.;.;.	4.308203	0.65834	24.9	0.99474569122223877	0.66525	0.97002	0.72125	D	AEFBI	0.594723	0.58955	D	0.398909946604098	0.61365	4.336386	0.487086349996775	0.67133	5.043443	0.999999915797226	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.502000	0.60122	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.736	0.96203	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	0.009063	0.005051	0.010870	0.017544	0.100000	0.000000	0.000000	0.007576	0.1	2956.14	119	chr10	122415920	.	G	A	2956.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.679;DP=486;ExcessHet=0.2348;FS=0.516;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.23;SOR=0.765	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1214,0,898	8	0	2	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	483.18	158	chr10	122983003	.	G	C	483.18	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.281;DP=1155;ExcessHet=1.5895;FS=162.564;InbreedingCoeff=-0.2647;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.937;SOR=10.312	GT:AD:DP:GQ:PL	0/1:63,24:87:77:77,0,954	6	0	4	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	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,35:107:99:0|1:124989533_G_A:1222,0,2838:124989533	1	0	9	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:83,24:107:99:576,0,2755	1	0	9	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	891.5	129	chr10	124989579	.	G	C	891.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.11;DP=1298;ExcessHet=1.5895;FS=10.607;InbreedingCoeff=-0.4692;MLEAC=5;MLEAF=0.417;MQ=54.19;MQRankSum=-7.856;QD=1.62;ReadPosRankSum=-3.028;SOR=0.213	GT:AD:DP:GQ:PL	0/1:101,19:120:99:226,0,2711	2	0	4	4
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	54.37	42	chr10	124989594	.	G	A	54.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.948;DP=1072;ExcessHet=0.2348;FS=3.834;InbreedingCoeff=-0.1428;MLEAC=2;MLEAF=0.111;MQ=55.86;MQRankSum=-6.971;QD=0.17;ReadPosRankSum=-3.282;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,11:137:42:0|1:124989594_G_A:42,0,5107:124989594	7	0	2	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,21:149:99:0|1:124994489_T_G:497,0,5260:124994489	0	0	10	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,24:152:99:0|1:124994489_T_G:622,0,5296:124994489	0	0	10	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,24:149:99:0|1:124994489_T_G:631,0,5170:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,31:155:99:0|1:124994523_G_A:907,0,5019:124994523	0	0	10	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:117,35:152:99:592,0,3359	0	0	9	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:111,36:147:99:538,0,3087	1	0	9	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,37:154:99:0|1:124994577_C_A:1202,0,4684:124994577	0	0	10	0
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155,CTBP2:NM_022802:exon3:c.1928_1931del:p.R643Qfs*155,CTBP2:NM_001321013:exon4:c.308_311del:p.R103Qfs*155,CTBP2:NM_001083914:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001290214:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001290215:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001321012:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001321014:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001329:exon5:c.308_311del:p.R103Qfs*155	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	391.26	71	chr10	125003006	.	TATCC	T	391.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.859;DP=1251;ExcessHet=0.7463;FS=1.556;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.071;MQ=57.75;MQRankSum=-7.525;QD=1.15;ReadPosRankSum=0.028;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,5:118:49:.:.:49,0,4747:.	6	0	1	3
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	345.43	71	chr10	125003008	.	T	*	345.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.162;DP=1245;ExcessHet=0.7463;FS=1.552;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.071;MQ=57.72;MQRankSum=-7.525;QD=1.01;ReadPosRankSum=0.105;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,5:118:58:0|1:125003008_T_C:58,0,4621:125003008	6	0	1	3
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	366.43	71	chr10	125003010	.	C	*	366.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.846;DP=1243;ExcessHet=0.7463;FS=1.56;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.071;MQ=57.67;MQRankSum=-7.424;QD=1.1;ReadPosRankSum=0.244;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,5:115:67:0|1:125003008_T_C:67,0,4495:125003008	6	0	1	3
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	297.64	71	chr10	125003036	.	C	A	297.64	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.646;DP=1225;ExcessHet=0.2348;FS=8.24;InbreedingCoeff=-0.2455;MLEAC=3;MLEAF=0.214;MQ=57.55;MQRankSum=-7.113;QD=1.48;ReadPosRankSum=1.4;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,11:114:71:0|1:125003036_C_A:71,0,4262:125003036	5	0	2	3
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	.	.	.	.	.	.	.	.	0.2143	467.54	71	chr10	125003062	.	T	A	467.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.847;DP=1240;ExcessHet=0.7463;FS=10.427;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.77;MQRankSum=-6.885;QD=1.42;ReadPosRankSum=1.84;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,12:126:80:0|1:125003062_T_A:80,0,4613:125003062	4	0	3	3
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	.	.	.	.	.	.	.	.	0.2143	455.54	71	chr10	125003065	.	T	A	455.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.948;DP=1249;ExcessHet=0.7463;FS=10.458;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.8;MQRankSum=-6.885;QD=1.36;ReadPosRankSum=1.85;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,12:127:77:0|1:125003062_T_A:77,0,4640:125003062	4	0	3	3
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	39.42	125	chr10	125003357	.	G	A	39.42	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.2;DP=817;ExcessHet=0.2348;FS=9.155;InbreedingCoeff=-0.1381;MLEAC=2;MLEAF=0.111;MQ=59.38;MQRankSum=-9.193;QD=0.22;ReadPosRankSum=-3.183;SOR=1.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,6:86:11:0|1:125003350_T_C:11,0,3341:125003350	7	0	2	1
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	68.67	132	chr10	125003368	.	G	C	68.67	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.671;DP=906;ExcessHet=0.2348;FS=2.453;InbreedingCoeff=-0.1714;MLEAC=2;MLEAF=0.125;MQ=59.37;MQRankSum=-9.3;QD=0.39;ReadPosRankSum=-2.399;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,6:86:11:0|1:125003350_T_C:11,0,3341:125003350	6	0	2	2
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	255.6	126	chr10	125003381	.	AC	A	255.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.92;DP=975;ExcessHet=2.8389;FS=3.831;InbreedingCoeff=-0.3364;MLEAC=5;MLEAF=0.25;MQ=59.35;MQRankSum=-9.355;QD=0.51;ReadPosRankSum=-1.661;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,6:88:5:0|1:125003381_AC_A:5,0,3382:125003381	5	0	5	0
chr10	130079621	130079621	T	A	exonic	C10orf143	.	nonsynonymous SNV	C10orf143:NM_001355042:exon3:c.A242T:p.Q81L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08990216	0.15614	T	.	.	.	.	.	.	.	.	.	0.024271035110546842	0.02378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311269	0.06060	T	0.16398282	0.36575	0.22444378	0.47356	0.16398282	0.36575	0.22444378	0.47355	-3.141	0.11773	T	.	.	0.161	0.35498	B	.	.	0.063278	0.04735	1.365	0.76674671747785361	0.11563	0.04622	0.10284	N	AEFCI	.	.	.	.	.	.	.	.	.	0.14529956413474	0.17347	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.101684	0.03063	0	0.134497	0.26212	5.39	-4.91	0.02857	-1.804000	0.01834	-5.688000	0.01630	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.0968:0.1372:0.4545:0.3115	4.168	0.09780	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	39.93	.	chr10	130079621	.	T	A	39.93	.	AC=2;AF=0.25;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.97;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	6
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	727.57	37	chr10	131970666	.	G	A	727.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.948;DP=1168;ExcessHet=1.5895;FS=186.628;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=59.88;MQRankSum=0.679;QD=0.79;ReadPosRankSum=2.42;SOR=11.197	GT:AD:DP:GQ:PL	0/1:159,54:213:59:59,0,3402	6	0	4	0
chr10	132885246	132885246	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon27:c.G3484A:p.G1162R	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.341176242787	.	.	0.0014	0.0011	0	0	0.0006	0.0025	0	0.0011	0.0005886	91	154602	rs200473624	0.0027	0.0026	0.0027	0.0027	0.0033	0.0027	0.0026	0.0033	0.0032	0.0005	0.0004	0	0	0.0001	0.0005	0.0033	0.0019	0.0009	0.0016	0.0016	0.0019	0.0014	0.0029	0.0015	0.0014	0.0026	0.0025	0.0007	0	0.0008	0	0	9.425e-05	0.0034	0.0029	0.0005	0.0010	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.759145	0.29557	N	.	.	.	1.32	0.35219	T	-5.8	0.88148	D	0.758	0.75650	-0.2904	0.75255	T	0.372	0.73129	T	6	0.13353616	0.25415	T	0.341176	0.92019	D	0.358	0.67872	0.421	0.46365	0.209622950755	0.20551	0.3255395842464103	0.32466	0.587679702723	0.54339	0.738591432571	0.72765	T	0.239447	0.60757	T	-0.212352	0.19049	T	-0.076576	0.65154	T	0.121017459358443	0.14529	T	0.828317	0.49240	T	0.66851425	0.76353	0.7011031	0.82388	0.66851425	0.76354	0.7011031	0.82389	-9.15	0.68657	D	.	.	0.613	0.69407	P	.	.	4.307239	0.65809	24.9	0.99878851047776018	0.95572	0.73779	0.36088	D	AEFBCI	0.361847	0.45131	N	0.0829034617826092	0.45667	2.819351	0.0660157297662892	0.42852	2.599336	0.940909218668569	0.27452	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	5.151000	0.64720	7.318000	0.58153	0.544000	0.25403	0.998000	0.41325	1.000000	0.68203	0.405000	0.26894	0.0:1.0:0.0:0.0	15.242	0.73174	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1770.43	35	chr10	132885246	.	C	T	1770.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=578;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1;SOR=0.927	GT:AD:DP:GQ:PL	0/1:54,74:128:99:1782,0,1185	9	0	1	0
chr10	133186325	133186325	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G977A:p.R326H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00748584704124	0.0002	.	0.0001	0.0001	0	0	0.0002	0.0002	0	0	0.0001423	22	154602	rs368066503	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.974e-05	6.714e-05	3.829e-05	0	1.922e-05	0.0002	0.0002	0.0004	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	9.648e-05	0	6.54e-05	0	0	0	0	0.0004	0.0005	0	0.047	0.40319	D	0.305	0.20037	T	0.975	0.58310	D	0.375	0.43710	B	0.326864	0.14179	U	0.641724	1	0.08975	N	.	.	.	2.82	0.16794	T	-0.13	0.08971	N	0.02	0.01203	-1.0329	0.19522	T	0.021	0.09101	T	10	0.07575822	0.11749	T	0.007486	0.19872	T	0.056	0.15993	.	.	0.0806252709748	0.07271	0.1597115552171798	0.15892	0.22818053352	0.25372	0.409210830927	0.26348	T	0.043052	0.26379	T	-0.584874	0.00180	T	-0.719327	0.04828	T	0.0259378292245231	0.01397	T	0.475952	0.14261	T	0.025958871	0.01593	0.029709028	0.01339	0.025958871	0.01593	0.029709028	0.01338	-4.717	0.33610	T	.	.	0.075	0.08129	B	.;.	.;.	0.655600	0.10239	6.977	0.99792321552395469	0.87750	0.03145	0.08104	N	AEFDBI	0.032750	0.03759	N	-0.643444611689396	0.17651	0.9101129	-0.767057157772679	0.15303	0.8041927	0.0487429298284688	0.14780	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.15	2.21	0.27042	0.032000	0.13620	0.529000	0.19232	-0.822000	0.02949	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.2627:0.7373:0.0	8.630	0.33072	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1928.43	58	chr10	133186325	.	G	A	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.25;DP=527;ExcessHet=0;FS=1.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.137;SOR=0.58	GT:AD:DP:GQ:PL	0/1:70,76:146:99:1940,0,1472	9	0	1	0
chr11	810319	810319	A	C	exonic	RPLP2	.	nonsynonymous SNV	RPLP2:NM_001004:exon2:c.A85C:p.S29R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.501048206784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.019	0.59159	D	0.973	0.57599	D	0.893	0.63340	P	0.000001	0.84330	D	0.091922	1	0.81001	D	3.235	0.89610	M	.	.	.	-3.64	0.69835	D	0.901	0.90138	0.456	0.89922	D	0.595	0.85530	D	9	0.9483597	0.94165	D	0.501048	0.95153	D	0.462	0.75889	0.665	0.80300	0.544095356242	0.54064	0.8695827263635135	0.86923	0.470588042752	0.46329	0.794204950333	0.81082	T	0.724173	0.92228	D	0.331338	0.85254	D	0.238168	0.85059	D	0.993255496025085	0.83982	D	0.883312	0.60567	D	0.7891989	0.83223	0.49686763	0.70906	0.7891989	0.83224	0.49686763	0.70906	-14.672	0.95036	D	.	.	0.993	0.94772	P	.;.	.;.	5.329420	0.89437	30	0.99773513344964793	0.86088	0.96838	0.71213	D	ALL	0.944543	0.95175	D	0.67387202013023	0.77921	6.768709	0.518538759296509	0.69238	5.332003	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.19	4.19	0.48645	8.803000	0.91534	10.820000	0.83844	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.254	0.59500	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	472.43	37	chr11	810319	.	A	C	472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.155;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.384;SOR=0.79	GT:AD:DP:GQ:PL	0/1:25,22:47:99:484,0,590	9	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	24716.1	748	chr11	1016991	.	T	*	24716.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.01;DP=6114;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4325;MLEAC=1;MLEAF=0.05;MQ=54.82;MQRankSum=-16.61;QD=6.16;ReadPosRankSum=-4.328;SOR=0.731	GT:AD:DP:GQ:PL	0/1:432,45:482:99:589,0,18004	9	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,24:215:99:0|1:1018266_G_A:433,0,7948:1018266	3	0	7	0
chr11	1096006	1096006	-	ACCCCAACACCCACCGGCACACAGACCCCAACATCG	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0011	0.0002	0.0002	0.0024	0.0002	0.0002	0.0019	0.0017	0.0004	0.0002	0.0004	0.0024	4.886e-05	0.0004	8.61e-05	0.0002	0.0002	7.2e-05	6.755e-05	0	0.0002	0.0003	1.192e-05	4.46e-06	5.999e-05	2.487e-05	0.0003	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2314.53	231	chr11	1096006	.	A	AACCCCAACACCCACCGGCACACAGACCCCAACATCG	2314.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=2265;ExcessHet=0;FS=50.164;InbreedingCoeff=-0.146;MLEAC=1;MLEAF=0.071;MQ=56.9;MQRankSum=-9.243;QD=10.47;ReadPosRankSum=-10.89;SOR=2.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,71:221:99:1|0:1095948_C_G:2324,0,6064:1095948	6	0	1	3
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	7445.87	286	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	7445.87	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.63;DP=5381;ExcessHet=8.3924;FS=0;InbreedingCoeff=-0.5278;MLEAC=4;MLEAF=0.222;MQ=57.39;MQRankSum=-5.608;QD=2.82;ReadPosRankSum=-0.805;SOR=0.713	GT:AD:DP:GQ:PL	0/1:231,96:386:99:2316,0,16289	5	0	4	1
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	582.16	190	chr11	1096155	.	C	*	582.16	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.333;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:231,59:386:99:.:.:1941,0,9131:.	3	0	6	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1293.0	252	chr11	1096180	.	C	*	1293.0	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.242;DP=4319;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.92;MQRankSum=-4.469;QD=0.74;ReadPosRankSum=-1.534;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,59:386:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1876,0,9186:1096141	2	0	5	3
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1288.98	254	chr11	1096181	.	C	*	1288.98	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,59:386:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1876,0,9186:1096141	2	0	5	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1269.43	263	chr11	1096211	.	A	*	1269.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.64;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.43;MQRankSum=-4.857;QD=0.68;ReadPosRankSum=6.96;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,59:386:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1876,0,9186:1096141	1	0	5	4
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1268.43	261	chr11	1096212	.	C	*	1268.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,59:386:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1876,0,9186:1096141	1	0	5	4
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	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	.	.	.	.	.	.	.	.	0.15	303.45	69	chr11	1097805	.	C	A	303.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=903;ExcessHet=0.7463;FS=33.983;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=35.9;MQRankSum=0.114;QD=1.21;ReadPosRankSum=-0.617;SOR=4.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,8:90:91:0|1:1097750_G_A:91,0,3100:1097750	7	0	3	0
chr11	1098113	1098113	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	584	937	1	0	0	1	0.000533333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489547140	0.0051	0.0047	0.0051	0.0050	0.0099	0.0049	0.0048	0.0086	0.0081	0.0064	0.0099	0.0059	0.0085	0.0056	0.0021	0.0041	0.0066	0.0077	0.0117	0.0084	0.0116	0.0117	0.0135	0.0101	0.0095	0.0112	0.0104	0.0105	0	0.0084	0.0172	0.0076	0.0086	0	0.0135	0.0130	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	212.46	100	chr11	1098113	.	A	C	212.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.13;DP=1468;ExcessHet=0.2348;FS=3.898;InbreedingCoeff=-0.1235;MLEAC=2;MLEAF=0.1;MQ=41.8;MQRankSum=1.87;QD=0.69;ReadPosRankSum=-3.901;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,15:170:26:0|1:1098064_C_G:26,0,6132:1098064	8	0	2	0
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	233.49	100	chr11	1098120	.	C	A	233.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.728;DP=1216;ExcessHet=0;FS=0;InbreedingCoeff=-0.1778;MLEAC=1;MLEAF=0.083;MQ=39.16;MQRankSum=-0.957;QD=1.82;ReadPosRankSum=-0.95;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,14:128:99:0|1:1098094_C_T:242,0,4609:1098094	5	0	1	4
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	153.64	95	chr11	1098124	.	C	T	153.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.805;DP=1112;ExcessHet=0;FS=0;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=37.21;MQRankSum=-2.044;QD=1.37;ReadPosRankSum=-1.122;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,11:112:99:0|1:1098094_C_T:160,0,4127:1098094	3	0	1	6
chr11	1099309	1099318	CCACCACCAC	-	exonic	MUC2	.	unknown	UNKNOWN	.	476	1041	4	0	1	5	0.00191755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.307e-06	7.528e-06	7.083e-06	1.455e-06	4.644e-06	1.55e-06	1.02e-06	1.36e-06	9.9e-07	0	0	0	0	0	0	4.644e-06	1.731e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	761.39	261	chr11	1099308	.	ACCACCACCAC	A	761.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=2835;ExcessHet=0;FS=3.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-2.948;QD=2.5;ReadPosRankSum=-1.403;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,53:304:99:0|1:1099308_ACCACCACCAC_A:773,0,8498:1099308	9	0	1	0
chr11	1099320	1099447	ACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTC	-	exonic	MUC2	.	unknown	UNKNOWN	.	552	965	4	0	1	5	0.00206825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.587e-06	5.495e-06	3.12e-06	0	2.016e-06	2.6e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.016e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	213.73	261	chr11	1099319	.	TACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTC	T	213.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.492;DP=2871;ExcessHet=0;FS=0.89;InbreedingCoeff=0.3464;MLEAC=1;MLEAF=0.063;MQ=52.74;MQRankSum=1.84;QD=0.44;ReadPosRankSum=-1.362;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:431,53:484:99:0|1:1099308_ACCACCACCAC_A:224,0,16121:1099308	7	0	1	2
chr11	1099365	1099434	TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC	0	exonic	MUC2	.	.	.	.	745	712	48	0	17	65	0.0326087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.48	172	chr11	1099365	.	TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC	*	1172.48	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.3;DP=3455;ExcessHet=4.1913;FS=8.3;InbreedingCoeff=-0.1837;MLEAC=2;MLEAF=0.25;MQ=52.84;MQRankSum=-0.081;QD=1.16;ReadPosRankSum=-3.227;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,52:249:99:0|1:1099364_A_*:1093,0,7670:1099364	3	0	1	6
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2191.92	115	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	2191.92	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.75;DP=3327;ExcessHet=2.3007;FS=0.524;InbreedingCoeff=-0.1696;MLEAC=6;MLEAF=0.6;MQ=52.67;MQRankSum=-0.92;QD=1.9;ReadPosRankSum=-2.196;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,52:249:99:0|1:1099364_A_*:1096,0,7672:1099364	1	0	4	5
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37325.4	122	chr11	1099370	.	G	*	37325.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.89;DP=3372;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=5;MLEAF=0.25;MQ=53.57;MQRankSum=-0.709;QD=17.77;ReadPosRankSum=0.377;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,52:248:99:.:.:6752,5609,7969:.	5	0	5	0
chr11	1099446	1099446	T	0	exonic	MUC2	.	.	.	.	637	671	209	1	4	215	0.135866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4326.62	187	chr11	1099446	.	T	*	4326.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.43;DP=3347;ExcessHet=10.4813;FS=10.857;InbreedingCoeff=-0.6374;MLEAC=2;MLEAF=0.143;MQ=50.12;MQRankSum=0.973;QD=2.68;ReadPosRankSum=-3.032;SOR=1.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,52:273:99:0|1:1099434_C_A:820,0,9109:1099434	5	0	2	3
chr11	1184396	1184396	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6251T:p.S2084L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314566957	1.902e-05	1.908e-05	3.371e-05	5.26e-06	9.342e-05	8.9e-06	6.08e-06	8.46e-06	4.7e-06	9.342e-05	0	0	0	0	0	2.209e-05	4.409e-05	0	2.632e-05	3.283e-05	1.286e-05	4.042e-05	0.0002	8.15e-06	5.15e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.42e-05	0	0.0002	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.09631	.	.	.	.	.	.	.	0.10994783	0.20531	T	.	.	.	.	.	.	.	.	.	0.05597092361749762	0.05538	.	.	.	.	.	0.154814	0.49626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.041	0.74157	D	.	.	0.106	0.19478	B	.	.	1.026768	0.14066	10.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.437000	0.02525	-20.000000	0.00162	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3528.43	71	chr11	1184396	.	C	T	3528.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.695;DP=1328;ExcessHet=0;FS=1.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.24;MQRankSum=-10.99;QD=5.31;ReadPosRankSum=-0.209;SOR=0.878	GT:AD:DP:GQ:PL	0/1:466,199:665:99:3540,0,11817	9	0	1	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,66:175:99:.:.:2227,0,4121:.	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,66:175:99:.:.:2227,0,4121:.	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,66:175:99:.:.:2227,0,4121:.	4	2	4	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2	8215.57	39	chr11	1956322	.	G	A	8215.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.86;DP=958;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/1:97,70:167:99:1473,0,2192	6	0	4	0
chr11	2922132	2922132	A	C	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon7:c.A601C:p.S201R,SLC22A18:NM_001315501:exon9:c.A1150C:p.S384R,SLC22A18:NM_002555:exon9:c.A895C:p.S299R,SLC22A18:NM_183233:exon9:c.A895C:p.S299R	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.123810989657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.799e-06	0	0	6.585e-06	6.568e-06	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.005	0.65419	D	0.006	0.70582	D	0.991	0.64070	D	0.932	0.66722	D	0.007938	0.31115	N	0.285831	0.999992	0.18198	N	2.39	0.68882	M	0.12	0.61677	T	-2.49	0.58733	N	0.662	0.67132	-0.6674	0.61946	T	0.320	0.68952	T	10	0.5095363	0.62016	D	0.123811	0.80505	D	0.379	0.69696	0.734	0.86719	0.809523646086	0.80774	0.7646512721006856	0.76414	0.419392534385	0.42491	0.421011865139	0.27975	T	0.109281	0.42303	T	0.0793129	0.61961	D	-0.123849	0.61486	T	0.935015141963959	0.60292	D	0.849515	0.58002	T	0.6209353	0.73813	0.502411	0.71236	0.6209353	0.73814	0.502411	0.71236	-10.882	0.79007	D	.	.	0.685	0.72360	P	.;.;.;.;.	.;.;.;.;.	4.177553	0.62865	24.5	0.9970913226816136	0.81213	0.68332	0.33762	D	AEFDBI	0.430620	0.49325	N	0.283157653127654	0.55293	3.693561	0.231581410128415	0.51609	3.341878	0.997107808072369	0.35279	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.56	4.56	0.55644	0.783000	0.26463	7.758000	0.68250	0.658000	0.54486	0.000000	0.06391	1.000000	0.68203	0.953000	0.50222	1.0:0.0:0.0:0.0	11.351	0.48826	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	739.43	33	chr11	2922132	.	A	C	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.729;DP=373;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.046;SOR=0.563	GT:AD:DP:GQ:PL	0/1:29,35:64:99:751,0,639	9	0	1	0
chr11	4923523	4923523	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G817A:p.V273I	.	.	.	.	.	.	.	.	.	.	.	3577872	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00221160723786	.	.	5.768e-05	0	0.0003	0	0	4.498e-05	0	6.056e-05	6.47e-05	10	154602	rs565245626	7.114e-05	7.114e-05	6.806e-05	7.425e-05	0.0004	5.98e-05	5.588e-05	0.0003	0.0002	8.961e-05	0.0002	0	0.0004	0	0.0002	6.115e-05	6.623e-05	4.637e-05	7.887e-05	7.877e-05	6.429e-05	9.411e-05	0.0002	4.498e-05	3.513e-05	3.246e-05	1.912e-05	9.638e-05	0	0.0001	0	0.0002	0	0.0068	2.941e-05	0.0005	0	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.661196	0.05980	N	1.246050	1	0.08975	N	0.305	0.10234	N	.	.	.	.	.	.	.	.	-1.0994	0.04164	T	0.000	0.00075	T	10	0.05015129	0.04707	T	0.002212	0.04178	T	.	.	.	.	.	.	0.037352443710001515	0.03682	.	.	0.183710962534	0.00133	T	3.24E-4	0.00087	T	-0.606992	0.00132	T	-0.854633	0.00903	T	0.00407355294866821	0.00043	T	0.0116988	0.00063	T	0.02787516	0.02041	0.041036353	0.04573	0.02787516	0.02041	0.041036353	0.04573	-3.908	0.22423	T	.	.	0.077	0.06479	B	.	.	-0.357399	0.02376	0.261	0.68234355340962372	0.08596	0.01166	0.04198	N	AEFBI	0.031576	0.03406	N	-1.55255883039602	0.01520	0.06636163	-1.5450096512192	0.02010	0.0918644	1.80065145796732E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	-0.713	0.10657	-0.417000	0.07153	.	.	-2.809000	0.00183	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1208:0.1639:0.1236:0.5917	2.669	0.04749	743	0.52768	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.05	1726.43	33	chr11	4923523	.	C	T	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.183;DP=560;ExcessHet=0;FS=2.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.368;SOR=0.484	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1738,0,1812	9	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4377.14	168	chr11	5070094	.	C	T	4377.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.005;DP=853;ExcessHet=0.2348;FS=6.949;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.551;SOR=0.967	GT:AD:DP:GQ:PL	0/1:101,85:186:99:2026,0,2759	8	0	2	0
chr11	5610891	5610891	A	G	exonic	TRIM6	.	nonsynonymous SNV	TRIM6:NM_001198645:exon6:c.A491G:p.H164R,TRIM6:NM_001198644:exon7:c.A491G:p.H164R,TRIM6:NM_001003818:exon8:c.A1100G:p.H367R,TRIM6:NM_058166:exon8:c.A1016G:p.H339R	.	428	1079	15	0	0	15	0.0069029	.	.	.	2816386	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.269	0.0165565714444	0.0042	0.00279553	0.0041	0.0003	0.0011	0	0.0011	0.0047	0.0033	0.0096	0.004172	645	154602	rs150778640	0.0049	0.0050	0.0047	0.0052	0.0105	0.0049	0.0048	0.0100	0.0097	0.0008	0.0015	0.0042	2.519e-05	0.0022	0.0052	0.0052	0.0041	0.0105	0.0035	0.0035	0.0037	0.0033	0.0075	0.0032	0.0031	0.0055	0.0049	0.0009	0	0.0037	0.0052	0	0.0024	0.0068	0.0051	0.0043	0.0075	0.261	0.16520	T	0.365	0.16717	T	0.183	0.32056	B	0.08	0.35019	B	.	.	.	.	1	0.81001	D	0.99	0.25021	L	0.19	0.60236	T	-2.19	0.51478	N	0.323	0.52829	-0.9896	0.32702	T	0.086	0.33578	T	9	0.0035454333	0.00064	T	0.016557	0.37875	T	0.269	0.58381	.	.	0.488477830397	0.48481	0.2800098865010619	0.27913	0.0303965938955	0.03144	.	.	.	0.03843	0.24835	T	-0.314588	0.07350	T	-0.216699	0.53054	T	0.00727755690066316	0.00083	T	0.566543	0.20051	T	0.077372424	0.17556	0.10796933	0.26002	0.077372424	0.17555	0.10796933	0.26001	-3.393	0.15987	T	.	.	0.095	0.17488	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.656980	0.21132	15.07	0.93254084876461463	0.22945	0.67086	0.33306	D	AEBI	0.440799	0.49922	N	-0.292504587323983	0.29436	1.632402	-0.188000244023674	0.31976	1.814745	0.998643737483849	0.37371	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.2	4.2	0.48814	1.459000	0.34844	.	.	0.691000	0.84096	0.002000	0.15269	0.019000	0.20708	0.860000	0.40782	0.8026:0.0:0.0:0.1974	7.229	0.25205	840	0.37365	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;.;.;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003528	0.000000	0.001359	0.002941	0.000000	0.000000	0.006098	0.015152	0.05	1923.43	73	chr11	5610891	.	A	G	1923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.391;DP=878;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.096;SOR=0.888	GT:AD:DP:GQ:PL	0/1:59,78:137:99:1935,0,1585	9	0	1	0
chr11	6568520	6568520	A	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon38:c.A12605C:p.H4202P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.00851520447513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000358	0.45440	D	0.143240	0.716566	0.33573	D	1.895	0.50365	L	2.69	0.12268	T	-6.64	0.92217	D	0.807	0.80278	-0.9038	0.47583	T	0.086	0.33410	T	10	0.9435557	0.93681	D	0.008515	0.22507	T	0.325	0.64725	0.824	0.93592	0.399596177874	0.39575	0.5508511972799012	0.55011	0.703269646133	0.61259	0.487403184175	0.37079	T	0.036581	0.24156	T	0.0581772	0.59383	T	-0.154209	0.58869	T	0.986542820930481	0.77236	D	0.49795	0.15494	T	0.64973766	0.75350	0.68733865	0.81611	0.64973766	0.75351	0.68733865	0.81612	-9.948	0.73600	D	.	.	0.246	0.48029	B	.;.	.;.	4.045118	0.59916	24.2	0.96901283130775329	0.31539	0.86157	0.45385	D	AEFDGBHCI	0.639007	0.61722	D	0.591740939912741	0.72657	5.840606	0.542168520950712	0.70856	5.566864	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.535252	0.11790	0	0.604944	0.38103	0	.	.	4.77	4.77	0.60425	4.090000	0.57417	10.738000	0.83653	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.961000	0.51904	1.0:0.0:0.0:0.0	10.854	0.45995	415	0.81806	Dynein heavy chain domain;Dynein heavy chain 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	.	.	.	.	.	.	.	.	0.05	1377.43	33	chr11	6568520	.	A	C	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.43;DP=469;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.966;SOR=0.844	GT:AD:DP:GQ:PL	0/1:94,57:151:99:1389,0,2305	9	0	1	0
chr11	7042561	7042561	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G535A:p.V179M	.	424	1067	27	4	0	35	0.0161365	.	.	.	2816418	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.559	.	0.0040	0.00259585	0.0051	9.714e-05	0.0016	0.0001	0.0024	0.0057	0.0044	0.0121	0.0047347	732	154602	rs149541731	0.0039	0.0039	0.0035	0.0042	0.0132	0.0038	0.0038	0.0110	0.0107	0.0007	0.0025	0.0411	2.519e-05	0.0015	0.0132	0.0026	0.0063	0.0116	0.0034	0.0034	0.0033	0.0035	0.0128	0.0032	0.0031	0.0103	0.0093	0.0006	0	0.0045	0.0369	0	0.0014	0.0068	0.0030	0.0047	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000725	0.42129	D	0.000000	0.804602	0.34557	D	3.205	0.89189	M	-1.72	0.83241	D	-2.77	0.58733	D	0.47	0.50598	0.322	0.87899	D	0.590	0.85316	D	10	0.014171183	0.00298	T	.	.	.	0.559	0.81888	.	.	0.802354826885	0.80051	0.2722668744954465	0.27139	0.149034713333	0.16805	0.448349237442	0.31719	T	0.385774	0.74709	T	-0.199575	0.20866	T	-0.0484216	0.67131	D	0.0438593696894781	0.04395	T	0.754025	0.37642	T	0.34251463	0.56479	0.36897784	0.62177	0.34251463	0.56479	0.36897784	0.62177	-6.375	0.49314	T	.	.	0.243	0.47752	B	.	.	3.590258	0.50659	23.0	0.99849493235859421	0.92925	0.92627	0.56158	D	AEFBI	0.263047	0.38066	N	0.238519058733931	0.53074	3.477999	0.0383602981176532	0.41513	2.495254	0.00209452125363833	0.09151	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	2.35	0.28166	4.121000	0.57654	4.050000	0.41500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0949:0.1673:0.7378:0.0	7.601	0.27245	687	0.59234	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	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	0.011581	0.010101	0.004076	0.008772	0.050000	0.043103	0.015244	0.007576	0.05	1080.43	55	chr11	7042561	.	G	A	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.593;DP=577;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.948;SOR=0.592	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1092,0,991	9	0	1	0
chr11	14644529	14644529	T	C	exonic	PDE3B	.	nonsynonymous SNV	PDE3B:NM_000922:exon1:c.T454C:p.W152R,PDE3B:NM_001363569:exon1:c.T454C:p.W152R,PDE3B:NM_001363570:exon1:c.T454C:p.W152R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.520971120619	.	.	3.075e-05	0	0	0	0	5.61e-05	0	0	1.29e-05	2	154602	rs746311720	1.789e-05	1.779e-05	2.052e-05	1.523e-05	0.0003	1.245e-05	1.058e-05	6.109e-05	2.528e-05	3.013e-05	0	0	0	0	0.0003	1.715e-05	3.337e-05	2.352e-05	3.944e-05	3.94e-05	3.856e-05	4.036e-05	7.353e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	2.413e-05	0	0	0	0	0	0	7.353e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	0.978	0.58756	D	0.758	0.56327	P	0.000000	0.00162	N	13.498800	0.987705	0.24489	N	1.845	0.48678	L	0.11	0.61677	T	-1.35	0.33598	N	0.728	0.72925	-0.9542	0.40238	T	0.215	0.57679	T	10	0.7093792	0.72945	D	0.520971	0.95445	D	0.340	0.66202	0.638	0.77470	0.615873902259	0.61277	0.5828843999050018	0.58217	0.773214967607	0.64879	0.757962822914	0.75626	T	0.396918	0.75542	T	-0.124288	0.32423	T	-0.232292	0.51549	T	0.358365088701248	0.27345	T	0.281272	0.04917	T	0.29245445	0.52220	0.25064304	0.50659	0.29245445	0.52220	0.25064304	0.50658	-2.58	0.06352	T	.	.	0.490	0.70682	A	.;.	.;.	3.340659	0.46033	22.2	0.965107362875949	0.30076	0.92586	0.56060	D	ALL	0.226308	0.35028	N	-0.311101845148786	0.28726	1.586814	-0.358184503775167	0.26257	1.449118	0.999999981613552	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.89	1.3	0.20778	2.271000	0.43023	4.614000	0.44048	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.173:0.1039:0.1779:0.5451	1.437	0.02204	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1346.43	33	chr11	14644529	.	T	C	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.198;DP=421;ExcessHet=0;FS=4.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-2.128;SOR=0.487	GT:AD:DP:GQ:PL	0/1:32,60:92:99:1358,0,652	9	0	1	0
chr11	18714050	18714050	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon14:c.G1897A:p.G633R	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0074	0.00599042	0.0020	0.0207	0.0012	0	0	0.0003	0.0011	0	0.0019017	294	154602	rs77549097	0.0008	0.0008	0.0009	0.0007	0.0250	0.0008	0.0007	0.0236	0.0230	0.0250	0.0019	0.0029	0	0	0.0012	4.676e-05	0.0018	3.478e-05	0.0067	0.0067	0.0072	0.0062	0.0230	0.0064	0.0063	0.0218	0.0213	0.0230	0	0.0022	0.0029	0	0	0	0.0002	0.0076	0	0.062	0.36912	T	0.011	0.64786	D	.	.	.	.	.	.	0.218297	0.16199	U	0.446120	0.994731	0.23454	N	.	.	.	-1.32	0.79761	T	-2.37	0.52289	N	0.489	0.52297	-0.2254	0.77008	T	0.433	0.77407	T	10	0.012319565	0.00265	T	.	.	.	0.417	0.72705	0.897	0.97640	0.846330802285	0.84485	0.8708352432610548	0.87049	0.741416554675	0.63284	0.356907844543	0.18935	T	.	.	.	-0.444006	0.01225	T	-0.392975	0.34203	T	0.0508700672048969	0.05652	T	0.745725	0.36599	T	.	.	.	.	.	.	.	.	-13.086	0.89714	D	.	.	0.986	0.92555	P	.	.	3.507558	0.49099	22.7	0.99828994030310092	0.91112	0.82091	0.41373	D	AEFBCI	0.356773	0.44803	N	0.322689540933083	0.57315	3.89835	0.166997762749993	0.48048	3.026229	0.00210419183247763	0.09158	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.01	3.07	0.34476	3.440000	0.52649	0.844000	0.22071	0.587000	0.30956	0.998000	0.41325	0.104000	0.22711	0.851000	0.40252	0.0:0.9059:0.0:0.0941	10.397	0.43393	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2787.43	45	chr11	18714050	.	C	T	2787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.021;DP=701;ExcessHet=0;FS=0.486;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.07;SOR=0.752	GT:AD:DP:GQ:PL	0/1:115,112:227:99:2799,0,2902	9	0	1	0
chr11	19170459	19170459	C	G	exonic	ZDHHC13	.	nonsynonymous SNV	ZDHHC13:NM_001001483:exon14:c.C1133G:p.T378S,ZDHHC13:NM_019028:exon15:c.C1523G:p.T508S	.	445	1073	4	0	0	4	0.00186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00526072026179	0.0002	0.000599042	0.0011	0	0.0024	0	0	0.0002	0.0047	0.0024	0.0002393	37	154602	rs374897174	0.0004	0.0004	0.0003	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	3.481e-05	0.0001	0	0	0.0001	0.0019	0.0003	0.0004	0.0022	0.0003	0.0004	0.0003	0.0004	0.0021	0.0003	0.0002	0.0011	0.0008	2.653e-05	0	0.0002	0	0	0.0004	0.0084	0.0004	0.0005	0.0021	0.182	0.21801	T	0.774	0.05221	T	0.752	0.43309	P	0.469	0.46748	P	0.004988	0.33199	N	0.355633	0.856329	0.35309	D	1.54	0.38927	L	1.84	0.24656	T	-0.54	0.16598	N	0.332	0.37301	-1.0884	0.05804	T	0.060	0.25090	T	10	0.018202066	0.00394	T	0.005261	0.13433	T	0.087	0.25287	0.401	0.43081	0.355034743287	0.35107	0.3101790005881058	0.30930	0.0475580062136	0.05194	0.450753211975	0.32046	T	0.038912	0.25009	T	-0.414485	0.01856	T	-0.375419	0.36257	T	0.0510317921113974	0.05680	T	0.831417	0.49863	T	0.092803374	0.21779	0.073436834	0.15957	0.092803374	0.21779	0.073436834	0.15956	-6.105	0.47150	T	.	.	0.117	0.23570	B	.;.	.;.	3.216922	0.43812	21.8	0.99266459155181164	0.57390	0.91821	0.54335	D	AEFBI	0.471057	0.51676	N	0.143777940463934	0.48517	3.063059	0.243365319945503	0.52272	3.403236	0.834039795189788	0.24744	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	3.523000	0.53243	6.019000	0.52765	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.649	0.76828	667	0.61242	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	0.003229	0.005051	0.006024	0.008929	0.000000	0.000000	0.000000	0.000000	0.05	578.43	43	chr11	19170459	.	C	G	578.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.048;DP=409;ExcessHet=0;FS=2.198;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.366;SOR=0.679	GT:AD:DP:GQ:PL	0/1:34,26:60:99:590,0,864	9	0	1	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	261.2	81	chr11	33085953	.	G	A	261.2	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.861;DP=523;ExcessHet=0.7463;FS=183.098;InbreedingCoeff=-0.4347;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.65;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,6:60:73:.:.:73,0,1976:.	1	0	3	6
chr11	44077852	44077852	G	A	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon8:c.G662A:p.G221E,ACCS:NM_032592:exon8:c.G662A:p.G221E	.	413	1108	1	0	0	1	0.00045106	.	.	.	724431	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.065	.	0.0065	0.014377	0.0040	0.0211	0.0006	0.0060	0	0.0001	0.0124	0.0118	0.003758	581	154602	rs35514614	0.0016	0.0016	0.0013	0.0018	0.0206	0.0015	0.0015	0.0193	0.0188	0.0206	0.0009	0	0.0086	5.618e-05	0.0031	0.0001	0.0030	0.0108	0.0064	0.0064	0.0061	0.0067	0.0200	0.0061	0.0059	0.0189	0.0184	0.0200	0	0.0015	0	0.0079	0	0.0102	0.0001	0.0066	0.0106	0.922	0.02298	T	0.591	0.08189	T	0.005	0.12996	B	0.029	0.21540	B	0.000003	0.62929	D	0.104529	0.999998	0.58761	D	0.83	0.20963	L	-0.08	0.63911	T	-1.21	0.30762	N	0.278	0.31478	-1.0754	0.08266	T	0.032	0.13811	T	10	0.0034445226	0.00061	T	.	.	.	0.065	0.18881	.	.	0.754912982869	0.75269	0.3486820279985512	0.34782	0.145023439158	0.16386	0.404011964798	0.25627	T	0.177007	0.52715	T	-0.485133	0.00691	T	-0.452717	0.27396	T	0.0129094553236581	0.00222	T	0.369363	0.08678	T	0.11159454	0.26371	0.1511187	0.35610	0.11159454	0.26371	0.1511187	0.35609	-7.558	0.58017	D	.	.	0.116	0.23290	B	.	.	2.871493	0.37970	20.6	0.58776055068065769	0.06070	0.95275	0.64091	D	AEFBI	0.433619	0.49500	N	-0.375719025399819	0.26338	1.436605	-0.164753344807732	0.32843	1.872686	0.652726880811412	0.22182	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.23	4.32	0.50899	4.739000	0.61776	3.703000	0.39532	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0821:0.0:0.9179:0.0	11.872	0.51803	848	0.35897	Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.011364	0.05	768.43	33	chr11	44077852	.	G	A	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.283;SOR=0.773	GT:AD:DP:GQ:PL	0/1:36,31:67:99:780,0,864	9	0	1	0
chr11	44938231	44938231	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318388:exon2:c.C5T:p.T2M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.000199681	0.0005	0	0	0.0039	0	9.912e-05	0	0.0012	0.0003816	59	154602	rs564424905	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0025	0.0024	5.979e-05	2.241e-05	0	0.0030	0	0.0005	5.397e-05	0.0002	0.0011	0.0002	0.0002	8.998e-05	0.0002	0.0029	0.0001	9.239e-05	0.0018	0.0015	0	0	0	0	0.0029	0	0	1.471e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1342.43	34	chr11	44938231	.	G	A	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.154;DP=413;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.054;SOR=0.608	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1354,0,1047	9	0	1	0
chr11	45904486	45904486	G	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon8:c.G1698T:p.Q566H	.	397	1122	3	0	0	3	0.00133511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0105769364546	.	.	8.265e-06	0	0	0	0	1.502e-05	0	0	3.84e-05	1	26028	rs777996728	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.031	0.53788	D	0.835	0.46254	P	0.497	0.47562	P	0.000273	0.46590	D	0.191316	0.999981	0.54805	D	1.7	0.43825	L	2.56	0.13673	T	-1.73	0.41046	N	0.454	0.49146	-1.1607	0.00740	T	0.035	0.15291	T	10	0.31837767	0.49236	T	0.010577	0.27281	T	0.070	0.20419	0.431	0.48007	0.404519682234	0.40067	0.43859502618328094	0.43776	0.779000434201	0.65178	0.440195262432	0.30603	T	0.447502	0.78974	T	-0.100366	0.36364	T	-0.381945	0.35495	T	0.43737697980294	0.30332	T	0.872513	0.57956	D	0.1161094	0.27390	0.12844318	0.30901	0.1161094	0.27389	0.12844318	0.30900	-5.186	0.38799	T	.	.	0.165	0.36455	B	.;.	.;.	4.178535	0.62890	24.5	0.99745166800417462	0.83778	0.88057	0.47821	D	AEFDBCI	0.447129	0.50290	N	0.355130345676219	0.59010	4.077175	0.462325817201332	0.65513	4.833189	0.999996726976344	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.664235	0.64389	0	.	.	5.97	5.97	0.96935	1.872000	0.39185	6.611000	0.56088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0694:0.0:0.9306:0.0	14.569	0.67792	460	0.78750	PTB/PI domain|PTB/PI domain;PTB/PI domain|PTB/PI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1573.43	38	chr11	45904486	.	G	T	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.521;DP=475;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.22;SOR=0.591	GT:AD:DP:GQ:PL	0/1:69,67:136:99:1585,0,1782	9	0	1	0
chr11	56376027	56376027	T	C	exonic	OR8U1;OR8U8	.	nonsynonymous SNV	OR8U1:NM_001005204:exon1:c.T404C:p.V135A	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00565811420952	.	.	0.0023	0.0002	0.0012	0	0.0038	0.0035	0.0022	0.0002	3.84e-05	1	26028	rs760935158	0.0009	0.0045	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0004	0.0005	0.0006	2.519e-05	0.0043	0.0009	0.0008	0.0011	4.646e-05	0.0073	0.0093	0.0075	0.0071	0.0113	0.0069	0.0068	0.0106	0.0104	0.0018	0.0011	0.0081	0.0046	0	0.0102	0	0.0113	0.0076	0.0012	0.185	0.21550	T	0.197	0.27855	T	0.001	0.07471	B	0.002	0.06944	B	0.166970	0.03081	N	1.797880	1	0.08975	N	.	.	.	7.58	0.00361	T	-2.8	0.59226	D	0.103	0.08646	-0.8323	0.53152	T	0.001	0.00348	T	10	0.009369731	0.00212	T	0.005658	0.14651	T	0.063	0.18251	.	.	0.0482279557977	0.04254	0.09713371616625528	0.09644	0.100390654718	0.11348	.	.	.	0.009199	0.08389	T	-0.283283	0.10323	T	-0.644693	0.09331	T	0.0326191138395496	0.02409	T	0.141486	0.01146	T	0.05956114	0.12120	0.06975197	0.14734	0.05956114	0.12120	0.06975197	0.14734	-4.328	0.28568	T	.	.	0.097	0.15654	B	.	.	-0.008985	0.04221	1.035	0.50760876740434258	0.04441	0.20731	0.21148	N	AEFGBI	0.076425	0.15374	N	-1.04148711544265	0.07756	0.3613392	-1.0447906327831	0.08815	0.4353224	1.24791852932102E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	2.3	0.27735	0.478000	0.21922	.	.	-1.905000	0.00520	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3116:0.0:0.6884	7.231	0.25219	190	0.92594	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	.	.	.	.	.	.	.	.	0.05	381.43	35	chr11	56376027	.	T	C	381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.04;DP=2516;ExcessHet=0;FS=2.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=-0.405;SOR=0.614	GT:AD:DP:GQ:PL	0/1:224,33:257:99:393,0,8907	9	0	1	0
chr11	56490781	56490781	G	C	exonic	OR5M8	.	stopgain	OR5M8:NM_001005282:exon1:c.C590G:p.S197X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003636	0.34687	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.035	0.01004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47943	0.93678	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.496927	0.95306	34	0.99125362924307858	0.53116	0.30783	0.24171	N	AEFI	0.076550	0.15401	N	0.375538505529963	0.60099	4.195273	0.0977063366325691	0.44434	2.725191	4.23090794197E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	3.41	0.38145	1.202000	0.31878	.	.	0.613000	0.49114	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.786:0.0	6.190	0.19730	259	0.89842	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	.	.	.	.	.	.	.	.	0.05	1451.43	33	chr11	56490781	.	G	C	1451.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.421;DP=434;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.61;SOR=0.794	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1463,0,1762	9	0	1	0
chr11	58579556	58579556	C	G	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C275G:p.P92R,ZFP91:NM_053023:exon1:c.C275G:p.P92R	.	414	1091	17	0	0	17	0.00773079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0048	0.00399361	0.0148	0.0012	0.0014	0	0.0847	0.0146	0.0310	0.0162	0.0091913	1421	154602	rs200108858	0.0100	0.0100	0.0099	0.0102	0.0140	0.0099	0.0098	0.0133	0.0131	0.0008	0.0017	0.0002	8.498e-05	0.0475	0.0049	0.0092	0.0086	0.0140	0.0091	0.0091	0.0072	0.0110	0.0141	0.0087	0.0085	0.0114	0.0104	0.0013	0.0022	0.0037	0	0.0002	0.0543	0	0.0091	0.0033	0.0141	0.003	0.68238	D	0.007	0.69154	D	0.013	0.16609	B	0.001	0.04355	B	0.000000	0.00162	N	15.234600	0.999218	0.21497	N	0	0.06538	N	3.0	0.09167	T	-0.75	0.21003	N	0.047	0.01911	-0.9860	0.33590	T	0.011	0.04134	T	10	0.0023399293	0.00034	T	.	.	.	0.069	0.20116	.	.	.	.	0.058964305836718	0.05837	0.298534013486	0.32233	0.710501134396	0.68666	T	0.068161	0.33387	T	-0.606313	0.00133	T	-0.632026	0.10262	T	0.0536316216313738	0.06127	T	0.70113	0.31087	T	0.300261	0.52928	0.34986305	0.60604	0.300261	0.52928	0.34986305	0.60604	-4.406	0.29638	T	.	.	0.141	0.31074	B	.	.	1.707634	0.21744	15.33	0.98572303355656599	0.43128	0.36916	0.25643	N	AEFGBHCIJ	0.045923	0.07565	N	-0.727865100058319	0.15241	0.7663986	-0.645672969450533	0.18326	0.9784742	0.99999999999951	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.76	1.73	0.23565	0.576000	0.23446	2.204000	0.31312	0.465000	0.21702	0.000000	0.06391	0.010000	0.20010	0.754000	0.35928	0.4005:0.5995:0.0:0.0	8.740	0.33713	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004663	0.000000	0.000000	0.000000	0.100000	0.000000	0.009146	0.018939	0.05	950.43	36	chr11	58579556	.	C	G	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.29;DP=379;ExcessHet=0;FS=5.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.579;SOR=0.438	GT:AD:DP:GQ:PL	0/1:22,44:66:99:962,0,483	9	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	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,42:102:99:.:.:555,0,919:.	2	0	6	2
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	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,29:106:99:.:.:242,0,2063:.	0	0	10	0
chr11	64642724	64642724	G	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138734:exon1:c.C80T:p.P27L	.	365	1155	2	0	0	2	0.000865052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	.	0.0018	0.00539137	0.0017	0.0109	0.0108	0	0	0.0009	0.0141	0	0.0008021	124	154602	rs4373928	0.0010	0.0010	0.0011	0.0010	0.0107	0.0010	0.0010	0.0096	0.0092	0.0107	0.0033	0.0023	0	0.0001	0.0039	0.0007	0.0025	4.442e-05	0.0035	0.0035	0.0039	0.0031	0.0093	0.0032	0.0031	0.0085	0.0082	0.0093	0	0.0041	0.0026	0	0	0.0137	0.0008	0.0081	0	1.0	0.00964	T	0.0	0.92824	D	0.428	0.35540	B	0.009	0.14300	B	.	.	.	.	0.988388	0.40754	D	0	0.06538	N	-2.28	0.87512	D	-0.76	0.21215	N	0.314	0.35408	-0.7794	0.56337	T	0.274	0.64566	T	9	0.004691571	0.00099	T	.	.	.	0.233	0.53499	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	0.059122	0.31030	T	-0.379788	0.03126	T	-0.308921	0.43776	T	0.00652812021629387	0.00073	T	0.411659	0.10685	T	.	.	.	.	.	.	.	.	-6.61	0.51130	T	.	.	0.097	0.15609	B	.	.	0.943078	0.13190	9.689	0.97012215002322533	0.31989	0.02987	0.07842	N	AEFDBI	0.064142	0.12438	N	-0.908558035888186	0.10641	0.5094678	-0.962682231317076	0.10631	0.5366021	0.998475068100888	0.37033	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	1.14	-0.0892	0.13005	0.232000	0.17670	0.710000	0.20927	0.220000	0.18069	0.049000	0.21372	0.304000	0.24236	0.095000	0.18041	0.0:0.0:0.596:0.404	4.087	0.09429	438	0.80235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016685	0.070588	0.021429	0.009554	0.000000	0.000000	0.009868	0.004000	0.05	84.43	15	chr11	64642724	.	G	A	84.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=147;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.755;SOR=1.609	GT:AD:DP:GQ:PL	0/1:7,3:10:96:96,0,218	9	0	1	0
chr11	65883578	65883578	A	G	exonic	CTSW	.	nonsynonymous SNV	CTSW:NM_001335:exon10:c.A1091G:p.Q364R	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0120264144154	.	.	8.241e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs766856912	8.209e-06	8.209e-06	5.445e-06	1.1e-05	0.0002	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	5.396e-06	0	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	0.409	0.10180	T	0.62	0.07444	T	0.0	0.02946	B	0.004	0.10090	B	0.861328	0.07118	N	1.069360	1	0.08975	N	-0.265	0.03777	N	-0.72	0.72994	T	-0.94	0.25118	N	0.194	0.21319	-1.0330	0.19490	T	0.132	0.44327	T	10	0.05109912	0.04941	T	0.012026	0.30231	T	0.053	0.14996	0.23	0.15705	0.341460817117	0.33762	0.3034060891052582	0.30253	0.0643675075442	0.07174	0.278282552958	0.07254	T	0.151552	0.49155	T	-0.388176	0.02764	T	-0.613836	0.11675	T	0.0286064324909539	0.01777	T	0.441056	0.12198	T	0.034077212	0.03755	0.04235452	0.05024	0.034077212	0.03755	0.04235452	0.05024	-2.741	0.07654	T	.	.	0.090	0.12465	B	.	.	-0.502138	0.01860	0.150	0.69230435824974423	0.08906	0.03709	0.08993	N	AEFGBI	0.069804	0.13833	N	-1.26829941091659	0.04063	0.1826888	-1.32275059346017	0.04137	0.1945214	0.999944604320553	0.47345	0.460665	0.09802	0	0.577304	0.33150	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	3.78	-2.67	0.05703	-0.271000	0.08603	-6.065000	0.01507	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3991:0.1812:0.4197:0.0	4.985	0.13531	239	0.90673	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	945.43	36	chr11	65883578	.	A	G	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=410;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.838;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,40:76:99:957,0,899	9	0	1	0
chr11	66605547	66605547	G	C	exonic	CCS	.	nonsynonymous SNV	CCS:NM_005125:exon7:c.G626C:p.R209P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0164286734213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.51248	T	0.075	0.66756	T	0.008	0.14655	B	0.016	0.17743	B	0.043371	0.23745	N	0.455201	0.966811	0.42266	D	1.93	0.51437	L	0.9	0.45248	T	-3.28	0.71762	D	0.799	0.79503	-1.0640	0.10784	T	0.100	0.37085	T	10	0.3346696	0.50637	T	0.016429	0.37682	T	0.285	0.60338	0.542	0.65446	0.389750110748	0.38591	0.7616382110732172	0.76111	0.870047324024	0.69367	0.303997933865	0.11000	T	0.911946	0.98349	D	0.0248069	0.55028	T	-0.202143	0.54443	T	0.830819964408875	0.48594	D	0.966303	0.87634	D	0.7744647	0.82316	0.6041323	0.76992	0.7744647	0.82318	0.6041323	0.76993	-13.765	0.92268	D	.	.	0.771	0.75975	P	.;.;.	.;.;.	1.991720	0.25307	16.71	0.98542189529667457	0.42732	0.62518	0.31805	D	AEFBI	0.754458	0.69432	D	-0.746428856755476	0.14730	0.7362663	-0.767347362463505	0.15297	0.8037877	0.999575331014336	0.40495	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	-1.8	0.07480	1.256000	0.32524	-1.056000	0.06467	-0.113000	0.14837	0.790000	0.29595	0.000000	0.08366	0.506000	0.29152	0.4952:0.0:0.3835:0.1213	6.321	0.20424	62	0.97349	Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain;Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain;Superoxide dismutase, copper/zinc 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	.	.	.	.	.	.	.	.	0.05	969.43	33	chr11	66605547	.	G	C	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.533;DP=463;ExcessHet=0;FS=3.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=0.039;SOR=0.607	GT:AD:DP:GQ:PL	0/1:98,50:148:99:981,0,2519	9	0	1	0
chr11	67056928	67056928	A	G	exonic	RHOD	.	nonsynonymous SNV	RHOD:NM_001300886:exon1:c.A26G:p.E9G,RHOD:NM_014578:exon1:c.A26G:p.E9G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.557403484937	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs776366712	6.044e-06	1.231e-05	2.982e-06	9.192e-06	0.0002	2.6e-06	1.88e-06	2.05e-06	1.35e-06	0	0	0	0	0	0.0002	5.693e-06	1.822e-05	0	2.634e-05	2.628e-05	2.575e-05	2.696e-05	5.888e-05	8.16e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.888e-05	0	0	0.026	0.72154	D	0.216	0.32461	T	.	.	.	.	.	.	0.861320	0.07118	U	1.098100	1	0.08975	N	.	.	.	-0.56	0.71187	T	-0.56	0.43149	N	0.173	0.27197	-0.9348	0.43424	T	0.185	0.53376	T	10	0.16823927	0.31364	T	0.557403	0.95945	D	0.054	0.15330	0.193	0.10437	0.703422681242	0.70084	0.2512956546629976	0.25043	1.33905284546	0.83810	0.778655827045	0.78725	T	0.024169	0.18313	T	-0.08047	0.39638	T	-0.353366	0.38820	T	0.164248510827861	0.18180	T	0.475652	0.14239	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04723	B	.;.	.;.	2.938256	0.39058	20.9	0.99720536277670768	0.81984	0.09064	0.14894	N	AEFDGBHCI	0.047602	0.08034	N	-0.805421780096725	0.13172	0.6470152	-0.790309368431663	0.14733	0.7713298	0.999999999999783	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	3.05	3.05	0.34272	0.719000	0.25552	1.373000	0.25972	0.577000	0.29297	0.021000	0.19753	0.941000	0.28781	0.210000	0.22183	1.0:0.0:0.0:0.0	8.166	0.30388	161	0.93754	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	546.43	38	chr11	67056928	.	A	G	546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.034;DP=380;ExcessHet=0;FS=1.987;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.734;SOR=0.487	GT:AD:DP:GQ:PL	0/1:41,28:69:99:558,0,907	9	0	1	0
chr11	67300098	67300098	A	G	exonic	ANKRD13D	.	nonsynonymous SNV	ANKRD13D:NM_207354:exon10:c.A1048G:p.I350V,ANKRD13D:NM_001347901:exon11:c.A787G:p.I263V	.	.	.	.	.	.	.	.	.	.	.	4165505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00562911091774	.	.	8.262e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs777513068	3.968e-05	3.967e-05	4.492e-05	3.438e-05	4.856e-05	3.113e-05	2.847e-05	3.804e-05	3.407e-05	0	0	0	0	0	0	4.856e-05	6.624e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.873	0.03125	T	0.998	0.02320	T	0.026	0.19406	B	0.036	0.22909	B	0.018284	0.27517	N	0.280529	0.995612	0.42773	D	1.065	0.27018	L	1.02	0.40749	T	0.09	0.05917	N	0.207	0.22998	-1.0782	0.07701	T	0.062	0.25923	T	10	0.07840091	0.12491	T	0.005629	0.14560	T	0.061	0.17616	0.25	0.18757	0.336424232111	0.33258	0.26234675833842336	0.26147	0.341172896618	0.36052	0.391850829124	0.23930	T	0.023982	0.18205	T	-0.297927	0.08856	T	-0.558071	0.16558	T	0.0800522626668137	0.09994	T	0.828817	0.50550	T	0.04824047	0.08376	0.039672796	0.04115	0.04824047	0.08376	0.039672796	0.04114	-2.096	0.06161	T	.	.	0.058	0.01786	B	.;.;.;.	.;.;.;.	2.018716	0.25655	16.84	0.77689352990341098	0.11981	0.88390	0.48296	D	AEFBCI	0.463048	0.51213	N	-0.320850374952628	0.28358	1.56341	-0.120712649381439	0.34556	1.98907	0.999913800769759	0.45857	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	3.461000	0.52800	4.698000	0.44396	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	1.0:0.0:0.0:0.0	13.910	0.63368	391	0.83213	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1385.43	35	chr11	67300098	.	A	G	1385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.546;DP=442;ExcessHet=0;FS=1.486;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.503;SOR=0.556	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1397,0,1320	9	0	1	0
chr11	67417423	67417423	C	T	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_001166222:exon3:c.C20T:p.S7L	.	.	.	.	.	.	.	.	.	.	.	4108674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.00316003266713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435407075	4.766e-05	5.472e-05	5.352e-05	4.148e-05	5.474e-05	3.753e-05	3.436e-05	4.305e-05	3.862e-05	3.931e-05	0	0	0	0	0	5.474e-05	5.871e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	2.08	0.21291	T	0.89	0.01641	N	0.1	0.14054	-0.9595	0.39274	T	0.016	0.06473	T	9	0.029785872	0.01105	T	0.00316	0.06906	T	0.083	0.24192	.	.	0.0666544352282	0.05500	0.028154563226441002	0.02765	0.0836342917841	0.09429	0.315512150526	0.12742	T	.	.	.	-0.376649	0.03271	T	-0.778807	0.02490	T	0.0191677937603141	0.00623	T	0.677032	0.30359	T	.	.	.	.	.	.	.	.	-2.709	0.07404	T	.	.	0.059	0.01059	B	.;.	.;.	-0.014762	0.04181	1.012	0.59266855234488691	0.06184	0.00120	0.00751	N	AEFGBI	0.033088	0.03859	N	-1.31113393510021	0.03547	0.1586267	-1.18065481234255	0.06233	0.2993916	0.999999659003138	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.77	3.65	0.40985	0.090000	0.14865	0.031000	0.13732	-0.181000	0.10308	0.001000	0.13787	0.006000	0.19429	0.156000	0.20513	0.0:0.2158:0.0:0.7842	5.996	0.18722	658	0.62094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	535.43	34	chr11	67417423	.	C	T	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.975;DP=362;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.371;SOR=0.874	GT:AD:DP:GQ:PL	0/1:30,22:52:99:547,0,771	9	0	1	0
chr11	67993705	67993705	C	T	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon10:c.G1453A:p.V485M	.	85	1395	39	3	0	45	0.015873	.	.	.	461407	Herpes_simplex_encephalitis,_susceptibility_to,_1|not_provided	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.424	.	.	0.00279553	0.0061	0	0.0065	0	0	0.0080	0.0112	0.0068	0.0017673	46	26028	rs199824078	0.0028	0.0026	0.0025	0.0030	0.0287	0.0027	0.0026	0.0241	0.0225	0.0015	0.0058	0.0138	0	0	0.0287	0.0021	0.0047	0.0057	0.0026	0.0026	0.0024	0.0028	0.0059	0.0024	0.0023	0.0049	0.0045	0.0005	0	0.0059	0.0115	0	0	0.0374	0.0029	0.0066	0.0052	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.959	0.70163	D	0.000006	0.62929	D	0.062153	0.984594	0.40167	D	2.65	0.77586	M	.	.	.	.	.	.	0.514	0.54496	0.054	0.83321	D	0.532	0.82660	D	10	0.013433933	0.00285	T	.	.	.	0.424	0.73226	.	.	0.289831133145	0.28582	0.8691284061655346	0.86877	1.26570268792	0.82146	0.701173007488	0.67313	T	0.279494	0.65218	T	-0.252212	0.13828	T	-0.133142	0.60706	T	0.0252460135581653	0.01304	T	0.942906	0.78488	D	0.2581719	0.48865	0.27325338	0.53243	0.2581719	0.48865	0.27325338	0.53242	-10.539	0.77071	D	.	.	0.270	0.50389	B	.	.	5.055009	0.84220	28.3	0.99892743650132054	0.96666	0.93986	0.59770	D	AEFCI	0.462465	0.51179	N	0.520327881881713	0.68291	5.197265	0.531995076050658	0.70157	5.463727	0.999999913522198	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.02	5.02	0.66742	4.640000	0.61065	5.873000	0.50556	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.841	0.78620	721	0.55360	.	.	.	.	.	.	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	0.048531	0.067797	0.063953	0.100000	0.000000	0.039216	0.025210	0.004425	0.05	294.43	24	chr11	67993705	.	C	T	294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.057;DP=190;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=30.91;MQRankSum=-0.789;QD=16.36;ReadPosRankSum=0.797;SOR=0.76	GT:AD:DP:GQ:PL	0/1:6,12:18:99:306,0,126	9	0	1	0
chr11	67999234	67999234	G	A	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon5:c.C626T:p.P209L	.	0	1464	53	5	0	63	0.0210632	.	.	.	461586	Herpes_simplex_encephalitis,_susceptibility_to,_1|not_provided	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0020	0.00279553	0.0037	0.0008	0.0049	0	0	0.0042	0.0134	0.0056	0.0034605	535	154602	rs144399212	0.0030	0.0030	0.0027	0.0032	0.0373	0.0029	0.0029	0.0332	0.0316	0.0016	0.0060	0.0135	0	0	0.0373	0.0024	0.0047	0.0059	0.0029	0.0029	0.0027	0.0031	0.0069	0.0027	0.0026	0.0059	0.0055	0.0006	0	0.0069	0.0115	0	0	0.0374	0.0031	0.0085	0.0052	0.109	0.61437	T	0.009	0.66756	D	0.981	0.59675	D	0.397	0.44399	B	0.000000	0.84330	D	0.000000	0.999516	0.47363	D	.	.	.	3.25	0.06762	T	-1.88	0.43906	N	0.677	0.68429	-0.9382	0.42900	T	0.015	0.06042	T	9	0.0077898204	0.00177	T	.	.	.	0.194	0.47447	.	.	0.0675242888579	0.06100	0.816316117180817	0.81587	1.28113235318	0.82534	0.577768325806	0.49772	T	0.260664	0.63206	T	-0.43278	0.01427	T	-0.392377	0.34274	T	0.0258280298992373	0.01383	T	0.851815	0.53646	D	0.3333287	0.55742	0.20664336	0.44888	0.3333287	0.55742	0.20664336	0.44887	-8.679	0.65609	D	.	.	0.080	0.11701	B	.;.	.;.	4.482114	0.69940	25.4	0.99814277337980228	0.89797	0.93388	0.58083	D	AEFBCI	0.865290	0.78433	D	0.180300324549607	0.50254	3.217198	0.12862498443393	0.46019	2.854937	0.999999850047325	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.18	4.18	0.48473	8.554000	0.90492	11.681000	0.94222	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	15.595	0.76317	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.045821	0.070707	0.055707	0.078947	0.050000	0.043103	0.027439	0.003788	0.05	912.43	34	chr11	67999234	.	G	A	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.948;SOR=0.688	GT:AD:DP:GQ:PL	0/1:35,39:74:99:924,0,707	9	0	1	0
chr11	68003029	68003029	G	T	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon3:c.C385A:p.L129I	.	0	1464	52	6	0	64	0.0213904	.	.	.	461921	Herpes_simplex_encephalitis,_susceptibility_to,_1|not_provided	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	.	0.0021	0.00279553	0.0046	0.0010	0.0067	0	0	0.0051	0.0160	0.0064	0.0034152	528	154602	rs146593182	0.0029	0.0029	0.0027	0.0031	0.0374	0.0028	0.0028	0.0333	0.0317	0.0016	0.0061	0.0135	0	0	0.0374	0.0023	0.0046	0.0057	0.0028	0.0028	0.0026	0.0031	0.0069	0.0026	0.0025	0.0058	0.0054	0.0006	0	0.0069	0.0115	0	0	0.0374	0.0031	0.0085	0.0050	0.273	0.28520	T	0.156	0.92824	T	0.998	0.73220	D	0.949	0.68658	D	0.000066	0.52346	D	0.131051	1	0.81001	D	.	.	.	1.08	0.39401	T	-0.92	0.30964	N	0.602	0.62018	-0.9474	0.41414	T	0.134	0.44856	T	9	0.008801967	0.00199	T	.	.	.	0.122	0.33800	.	.	0.0675242888579	0.06100	0.39270690972395605	0.39185	1.04181182767	0.75820	0.695134460926	0.66443	T	0.129685	0.45812	T	-0.292307	0.09406	T	-0.191013	0.55495	T	0.0230835697670063	0.01033	T	0.869813	0.57430	D	0.2432664	0.47264	0.27638835	0.53583	0.2432664	0.47264	0.27638835	0.53582	-9.123	0.68485	D	.	.	0.215	0.46285	B	.;.	.;.	4.634940	0.73737	26.0	0.9833031606089162	0.40329	0.94966	0.62953	D	AEFDGBHCI	0.960848	0.98184	D	0.495847297113004	0.66848	5.00341	0.478530138974442	0.66570	4.969255	1.0	0.98316	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.23	4.23	0.49319	7.866000	0.85474	11.482000	0.92895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	15.550	0.75883	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.045821	0.070707	0.055707	0.078947	0.050000	0.043103	0.027439	0.003788	0.05	807.43	33	chr11	68003029	.	G	T	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.202;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.633;SOR=0.678	GT:AD:DP:GQ:PL	0/1:47,35:82:99:819,0,1130	9	0	1	0
chr11	68348021	68348021	A	G	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon2:c.A266G:p.Q89R	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	0	1493	26	3	0	32	0.010603	.	.	YES	192327	not_provided|not_specified|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.255	.	0.0046	0.0199681	0.0174	0.0030	0.0712	0.0956	0.0011	0.0048	0.0156	0.0053	0.0160412	2480	154602	rs41494349	0.0096	0.0096	0.0101	0.0090	0.0768	0.0094	0.0094	0.0746	0.0736	0.0026	0.0606	0.0002	0.0768	0.0014	0.0106	0.0061	0.0113	0.0056	0.0091	0.0091	0.0089	0.0094	0.0812	0.0087	0.0086	0.0748	0.0722	0.0024	0.0132	0.0284	0.0003	0.0812	0.0009	0.0102	0.0054	0.0104	0.0046	0.879	0.02550	T	0.401	0.14961	T	0.0	0.02946	B	0.001	0.04355	B	0.000266	0.46590	U	0.000000	0.997559	0.43985	D	-1.01	0.01154	N	-2.56	0.89627	D	0.36	0.03700	N	0.117	0.10626	-0.7890	0.55788	T	0.035	0.15291	T	10	0.0024719536	0.00037	T	.	.	.	0.255	0.56562	.	.	.	.	0.7059334402387919	0.70535	0.442339813184	0.44202	0.524348080158	0.42239	T	0.270593	0.64287	T	-0.469902	0.00851	T	-0.370281	0.36856	T	0.0210225047742076	0.00803	T	0.80142	0.44736	T	0.111641444	0.26380	0.10058037	0.24053	0.103894375	0.24557	0.123055644	0.29677	0.083	0.00321	T	0.04609604163479369	0.00618	0.176	0.38480	B	.	.	2.211867	0.28218	17.72	0.35867570491121881	0.02275	0.75230	0.36825	D	AEFDBI	0.330168	0.43029	N	-0.602503233227717	0.18869	0.9830987	-0.329694221574866	0.27145	1.504193	0.999816300052879	0.43459	0.706548	0.73137	0	0.653731	0.59785	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	1.985000	0.40289	4.593000	0.43966	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.097	0.64554	503	0.75780	.	.	.	.	.	.	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	0.017623	0.020202	0.024457	0.020468	0.050000	0.025862	0.003049	0.007576	0.05	1907.43	33	chr11	68348021	.	A	G	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.258;DP=558;ExcessHet=0;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-2.052;SOR=0.938	GT:AD:DP:GQ:PL	0/1:136,94:230:99:1919,0,3457	9	0	1	0
chr11	70798550	70798550	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_001379226:exon4:c.G533A:p.S178N,SHANK2:NM_012309:exon14:c.G1670A:p.S557N	.	0	1508	14	0	0	14	0.00462046	.	.	.	2813475	not_provided|SHANK2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0309722428644	0.0028	0.00339457	0.0039	0.0033	0.0073	0	0	0.0054	0.0052	0.0029	0.0009573	148	154602	rs141184740	0.0027	0.0024	0.0027	0.0027	0.0093	0.0026	0.0025	0.0075	0.0070	0.0087	0.0049	0.0123	0	4.082e-05	0.0093	0.0018	0.0060	0.0028	0.0037	0.0037	0.0037	0.0038	0.0069	0.0035	0.0034	0.0059	0.0055	0.0062	0	0.0069	0.0124	0	0	0.0068	0.0019	0.0114	0.0021	.	.	.	0.042	0.50226	D	0.997	0.70673	D	0.99	0.78936	D	0.000066	0.52346	U	0.073330	0.969965	0.38764	D	.	.	.	3.0	0.09167	T	.	.	.	0.686	0.69213	-1.1491	0.01052	T	0.054	0.22883	T	10	0.01044476	0.00232	T	0.030972	0.53161	D	.	.	.	.	0.353785824208	0.34994	.	.	.	.	0.851025700569	0.89770	D	.	.	.	-0.543089	0.00321	T	-0.549439	0.17381	T	0.0192810455869317	0.00634	T	0.90091	0.65583	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.889	0.82028	P	.	.	4.483212	0.69966	25.5	0.99492766276178901	0.67573	0.90012	0.50864	D	AEFDBI	0.721112	0.67146	D	0.603761567431857	0.73412	5.961941	0.554669799547695	0.71721	5.698465	0.523376809360585	0.21115	0.562547	0.31514	0	0.547309	0.14657	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	5.394000	0.66031	7.254000	0.57939	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.004	0.63967	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	0	0	1	0	0.020227	0.062500	0.023256	0.003676	0.000000	0.017857	0.000000	0.000000	0.05	1395.43	35	chr11	70798550	.	C	T	1395.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=441;ExcessHet=0;FS=6.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.647;SOR=1.222	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1407,0,1600	9	0	1	0
chr11	72013358	72013358	C	T	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G4145A:p.R1382H,NUMA1:NM_001286561:exon16:c.G4145A:p.R1382H	Leukemia, acute promyelocytic, somatic	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0145264443296	.	.	2.631e-05	0.0001	8.878e-05	0	0	1.608e-05	0	0	1.94e-05	3	154602	rs749712733	7.55e-06	8.893e-06	6.831e-06	8.275e-06	2.988e-05	4.05e-06	2.96e-06	2.62e-06	1.68e-06	2.988e-05	2.238e-05	0	2.52e-05	0	0	6.296e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.68238	D	0.07	0.56192	T	0.045	0.90584	B	0.019	0.72001	B	0.000076	0.52346	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.44	0.15145	T	-1.37	0.33998	N	0.299	0.42149	-0.9454	0.41748	T	0.089	0.34298	T	10	0.07819775	0.12435	T	0.014526	0.34707	T	0.082	0.23913	0.102	0.01589	0.377493895363	0.37364	0.163406668039547	0.16260	0.387000595785	0.39991	0.453215956688	0.32383	T	0.094911	0.39514	T	-0.206314	0.19900	T	-0.534132	0.18876	T	0.201791420578957	0.20514	T	0.842116	0.51841	T	0.06531672	0.13945	0.07115553	0.15205	0.06531672	0.13945	0.07115553	0.15204	-6.277	0.48540	T	.	.	0.092	0.25495	B	.;.;.;.	.;.;.;.	4.464170	0.69511	25.4	0.99872679185709534	0.94989	0.33187	0.24767	N	ALL	0.076647	0.15424	N	-0.320282460025844	0.28378	1.564764	-0.282938244284944	0.28660	1.600	0.999999997599055	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	0.991000	0.29255	.	.	-0.176000	0.10722	0.155000	0.23727	0.980000	0.30356	0.879000	0.42020	0.0:0.762:0.0:0.238	8.345	0.31430	544	0.72685	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	566.43	34	chr11	72013358	.	C	T	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.58;DP=387;ExcessHet=0;FS=5.248;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.245;SOR=1.305	GT:AD:DP:GQ:PL	0/1:41,22:63:99:578,0,1050	9	0	1	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	167.97	59	chr11	90086558	.	G	C	167.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.036;DP=306;ExcessHet=0.8432;FS=77.195;InbreedingCoeff=-0.3037;MLEAC=3;MLEAF=0.214;MQ=35.27;MQRankSum=-1.185;QD=1.53;ReadPosRankSum=0.814;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,9:43:88:0|1:90086558_G_C:88,0,841:90086558	4	0	3	3
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	101.28	59	chr11	90086559	.	T	C	101.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.17;DP=296;ExcessHet=0.8432;FS=51.788;InbreedingCoeff=-0.3196;MLEAC=4;MLEAF=0.286;MQ=35.44;MQRankSum=-1.083;QD=0.93;ReadPosRankSum=1.39;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,4:42:21:0|1:90086558_G_C:21,0,1487:90086558	4	0	3	3
chr11	92801016	92801016	A	T	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.A8003T:p.Q2668L,FAT3:NM_001367949:exon10:c.A8003T:p.Q2668L	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.011580631658	.	.	1.707e-05	0	0	0	0	3.069e-05	0	0	1.29e-05	2	154602	rs750299128	6.843e-06	6.84e-06	1.089e-05	2.751e-06	6.296e-06	3.46e-06	2.52e-06	2.62e-06	1.68e-06	0	0	0	0	3.747e-05	0	6.296e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.980812	0.39707	D	0.145	0.08828	N	0.69	0.51714	T	-2.52	0.54702	D	0.206	0.27077	-1.1064	0.03398	T	0.082	0.32353	T	9	0.24858463	0.42157	T	0.011581	0.29347	T	0.121	0.33580	0.712	0.84781	0.246926113748	0.24311	0.4554946193401014	0.45467	.	.	0.391885042191	0.23935	T	0.25472	0.62541	T	-0.166534	0.25761	T	-0.369334	0.36967	T	0.302102989357937	0.25090	T	.	.	.	0.18137057	0.39304	0.18828915	0.42111	0.18137057	0.39304	0.18828915	0.42110	-4.811	0.34720	T	.	.	0.118	0.24088	B	.;.	.;.	3.184845	0.43250	21.7	0.99443600682347733	0.64921	0.89475	0.49963	D	AEFBI	0.289724	0.40129	N	0.0621582035694334	0.44704	2.739607	0.158712916769826	0.47605	2.988281	0.0383676919818538	0.14344	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	3.75	0.42236	3.385000	0.52224	5.280000	0.48177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7517:0.1272:0.0:0.1211	9.415	0.37677	900	0.24599	Cadherin-like|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	.	.	.	.	.	.	.	.	0.05	2607.43	129	chr11	92801016	.	A	T	2607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=1367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.491;SOR=0.682	GT:AD:DP:GQ:PL	0/1:107,100:207:99:2619,0,2545	9	0	1	0
chr11	104995788	104995788	G	A	exonic	CASP5	.	stopgain	CASP5:NM_001136110:exon7:c.C835T:p.R279X,CASP5:NM_001136109:exon8:c.C1087T:p.R363X,CASP5:NM_001136112:exon9:c.C1300T:p.R434X,CASP5:NM_004347:exon9:c.C1261T:p.R421X	.	426	1084	12	0	0	12	0.00550459	.	.	.	3189216	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0012	0.000798722	0.0011	0.0002	0.0021	0.0001	0.0003	0.0015	0.0011	0.0004	0.0010737	166	154602	rs141361242	0.0013	0.0014	0.0014	0.0013	0.0108	0.0013	0.0013	0.0086	0.0078	0.0004	0.0020	0.0010	0	0.0002	0.0108	0.0014	0.0017	0.0006	0.0010	0.0010	0.0011	0.0010	0.0018	0.0009	0.0009	0.0013	0.0012	0.0004	0	0.0018	0.0009	0	0	0.0034	0.0015	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.831	0.82660	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048138	0.58103	T	0.277356	0.86981	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.;Tolerant;.	.;High;.;.;High;.	5.801280	0.93615	33	0.87430948088497806	0.17222	0.03704	0.08984	N	AEFBCI	0.092583	0.18742	N	-0.214538626783681	0.32537	1.835995	-0.612800542296203	0.19165	1.027015	0.927746609017521	0.26900	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.85	-0.229	0.12449	-0.115000	0.10713	-13.536000	0.00453	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.1804:0.3196:0.5001	5.002	0.13615	894	0.26265	.;.;Peptidase C14, caspase non-catalytic subunit p10|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic 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	0.007056	0.010101	0.002717	0.023392	0.000000	0.000000	0.006135	0.003788	0.05	702.43	39	chr11	104995788	.	G	A	702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=457;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=0.758;SOR=0.908	GT:AD:DP:GQ:PL	0/1:73,35:108:99:714,0,1719	9	0	1	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L,ATM:NM_001351834:exon12:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1484	37	0	0	37	0.0123128	.	.	YES	132799	Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified|Malignant_tumor_of_breast|Breast_and/or_ovarian_cancer	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	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	0.016616	0.000000	0.014946	0.052632	0.000000	0.017241	0.000000	0.011364	0.1	2068.14	111	chr11	108251973	.	T	C	2068.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.756;DP=479;ExcessHet=0.2348;FS=1.759;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.309;SOR=0.552	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1075,0,878	8	0	2	0
chr11	113943190	113943190	T	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon6:c.T872C:p.I291T,HTR3B:NM_006028:exon7:c.T905C:p.I302T	.	.	.	.	.	.	.	.	0.0208	0.228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.215640755174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.11	0.87757	M	-2.56	0.89627	D	-4.6	0.78976	D	0.977	0.98750	0.712	0.93330	D	0.808	0.93508	D	10	0.95776165	0.95152	D	0.215641	0.87518	D	0.907	0.97474	0.811	0.92719	0.939525973753	0.93889	0.830359886981671	0.82994	0.565421546696	0.52879	0.60984402895	0.54293	T	0.530489	0.83744	D	0.459327	0.92894	D	0.422015	0.92806	D	0.99723744392395	0.91078	D	0.823618	0.50455	T	0.62902796	0.74247	0.68786395	0.81640	0.62902796	0.74248	0.68786395	0.81641	-9.473	0.71362	D	.	.	0.137	0.32445	B	.;.	.;.	4.215219	0.63719	24.6	0.99785259811201055	0.87131	0.97882	0.77839	D	AEFBI	0.732812	0.67945	D	0.623597150701331	0.74669	6.172222	0.539534663008072	0.70672	5.539829	0.99998627827559	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.41	4.28	0.50183	5.957000	0.70042	6.158000	0.54298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0:0.0721:0.0:0.9279	11.165	0.47763	900	0.24599	Neurotransmitter-gated ion-channel 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	.	.	.	.	.	.	.	.	0.05	998.43	34	chr11	113943190	.	T	C	998.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.207;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=1.35;SOR=0.634	GT:AD:DP:GQ:PL	0/1:23,37:60:99:1010,0,602	9	0	1	0
chr11	118663125	118663125	C	T	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon3:c.G262A:p.A88T,TREH:NM_007180:exon3:c.G262A:p.A88T	Trehalase deficiency	10	1506	6	0	0	6	0.00198807	.	.	.	3886922	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00470387288337	0.0002	.	0.0004	0	0.0002	0	0	0.0003	0.0011	0.0017	0.0003687	57	154602	rs201126233	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0003	0.0018	0.0018	0	0.0002	3.826e-05	0	1.873e-05	0.0021	0.0002	0.0002	0.0021	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0019	0.529	0.07048	T	0.506	0.10967	T	0.003	0.11197	B	0.009	0.14300	B	0.000130	0.00470	N	4.102920	1	0.08975	N	.	.	.	1.92	0.23082	T	-0.41	0.15178	N	0.091	0.13911	-1.0356	0.18668	T	0.030	0.12760	T	9	0.0411126	0.02737	T	0.004704	0.11691	T	0.045	0.12272	.	.	0.287603790349	0.28378	0.09214168863123712	0.09147	0.0307393300803	0.03175	0.222759485245	0.01475	T	0.04366	0.26572	T	-0.674153	0.00052	T	-0.747627	0.03579	T	0.00675170057709269	0.00076	T	0.330167	0.06908	T	0.042742785	0.06537	0.08603793	0.19907	0.034341305	0.03834	0.08900118	0.20786	-5.066	0.37548	T	.	.	0.074	0.05145	B	.;.	.;.	-0.087354	0.03718	0.762	0.45684919509040672	0.03604	0.02378	0.06759	N	AEFDBI	0.039536	0.05757	N	-1.25027402494192	0.04296	0.1936174	-1.37202892191595	0.03553	0.1659638	0.995556160638755	0.34191	0.666168	0.50170	0	0.563428	0.19063	0	0.005938	0.00136	3	0.645665	0.59343	0	.	.	5.02	-6.51	0.01709	-0.426000	0.07076	-0.555000	0.08507	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.2936:0.3152:0.3911	6.611	0.21946	318	0.87072	.;.	.	.	.	.	.	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	0.05	1555.43	34	chr11	118663125	.	C	T	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.064;DP=423;ExcessHet=0;FS=3.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-1.406;SOR=0.565	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1567,0,1227	9	0	1	0
chr11	119638802	119638802	C	T	exonic	NECTIN1	.	nonsynonymous SNV	NECTIN1:NM_203285:exon7:c.G1156A:p.D386N	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4021125	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.085	0.0352586530892	0.0010	0.00199681	0.0005	0.0043	0.0007	0	0.0005	9.219e-05	0	0	0.0004786	74	154602	rs143612966	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0043	0.0041	0.0049	0.0005	0	0	0.0007	0.0009	7.286e-05	0.0004	2.321e-05	0.0014	0.0014	0.0016	0.0012	0.0046	0.0013	0.0012	0.0040	0.0038	0.0046	0	0.0007	0	0.0002	0.0005	0.0034	0.0001	0.0009	0	0.177	0.22224	T	0.169	0.30534	T	0.487	0.36886	P	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	-1.16	0.78082	T	-0.26	0.11185	N	0.215	0.24010	-0.9259	0.44730	T	0.160	0.49497	T	9	0.0060114264	0.00135	T	0.035259	0.56225	D	0.085	0.24743	.	.	0.226560886239	0.22246	.	.	.	.	.	.	.	.	.	.	-0.542093	0.00326	T	-0.550777	0.17252	T	0.025888073429963	0.01391	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	-4.127	0.25687	T	.	.	0.091	0.13032	B	.	.	0.650395	0.10190	6.929	0.99223037172049855	0.55963	0.03825	0.09167	N	AEFDBI	0.028573	0.02542	N	-0.782071899232948	0.13776	0.6811973	-0.888033627704042	0.12377	0.6363074	0.107587679486631	0.16560	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.39	0.192	0.14415	0.499000	0.22254	-0.381000	0.09541	0.594000	0.32500	0.018000	0.19461	0.000000	0.08366	0.019000	0.11356	0.2001:0.4883:0.1949:0.1168	2.102	0.03458	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	636.43	34	chr11	119638802	.	C	T	636.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.282;DP=378;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.681;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,30:63:99:648,0,701	9	0	1	0
chr11	123805623	123805623	T	A	exonic	OR6M1	.	nonsynonymous SNV	OR6M1:NM_001005325:exon1:c.A727T:p.T243S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0151239336505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.999	0.77913	D	0.99	0.78936	D	0.004159	0.34057	U	0.000000	0.999789	0.20372	N	2	0.54354	M	1.15	0.38236	T	-2.36	0.52128	N	0.227	0.25499	-0.9941	0.31538	T	0.156	0.48807	T	10	0.23585615	0.40655	T	0.015124	0.35666	T	0.075	0.21907	0.524	0.62818	0.527809512145	0.52428	0.07136914351299034	0.07073	0.174577858739	0.19662	0.211207464337	0.00863	T	0.009479	0.08629	T	-0.187791	0.22584	T	-0.507525	0.21570	T	0.596850633621216	0.36276	D	0.623938	0.24053	T	0.33876294	0.56181	0.33182788	0.59038	0.33876294	0.56181	0.33182788	0.59037	-6.422	0.49681	T	.	.	0.214	0.44280	B	.	.	2.863411	0.37839	20.6	0.98522210707192792	0.42483	0.13334	0.17797	N	AEFBI	0.065622	0.12810	N	-0.194168741112412	0.33377	1.892876	-0.442131711860865	0.23773	1.298197	4.92793737510966E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	2.34	0.28071	0.062000	0.14264	-0.042000	0.12656	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.881000	0.42162	0.0:0.1223:0.0:0.8777	6.566	0.21709	718	0.55760	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	.	.	.	.	.	.	.	.	0.05	1543.43	100	chr11	123805623	.	T	A	1543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=514;ExcessHet=0;FS=0.683;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.83;SOR=0.622	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1555,0,1331	9	0	1	0
chr11	124319731	124319731	G	A	exonic	OR8D2	.	nonsynonymous SNV	OR8D2:NM_001002918:exon1:c.C467T:p.A156V	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	.	0.0071885	0.0037	0	0.0002	0	0	0	0	0.0273	0.0032665	505	154602	rs201214294	0.0016	0.0016	0.0009	0.0024	0.0257	0.0016	0.0015	0.0248	0.0244	2.988e-05	2.239e-05	0	2.524e-05	0	0.0016	1.349e-05	0.0018	0.0257	0.0009	0.0009	0.0005	0.0012	0.0266	0.0007	0.0007	0.0229	0.0214	4.816e-05	0	6.553e-05	0	0	0	0	1.471e-05	0	0.0266	.	.	.	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000292	0.46274	D	0.000000	0.927639	0.27140	N	2.42	0.70002	M	.	.	.	.	.	.	.	.	-0.7265	0.59140	T	0.253	0.62269	T	10	0.0046641827	0.00098	T	.	.	.	.	.	.	.	.	.	0.1851852009963729	0.18436	.	.	0.260416209698	0.04940	T	0.011045	0.09905	T	-0.49627	0.00600	T	-0.465362	0.26018	T	0.121152991702756	0.14542	T	0.210579	0.02543	T	0.30802992	0.53615	0.3781054	0.62895	0.30802992	0.53615	0.3781054	0.62895	-8.036	0.61316	D	.	.	0.167	0.36791	B	.	.	2.357606	0.30237	18.37	0.99866306287457152	0.94457	0.15121	0.18754	N	AEFBI	0.059870	0.11339	N	0.110428578715842	0.46948	2.927542	-0.101194201712346	0.35343	2.043584	0.00777910455358787	0.11541	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.73	3.73	0.41982	1.421000	0.34423	.	.	0.630000	0.51874	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	16.553	0.84325	842	0.36989	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1900.43	94	chr11	124319731	.	G	A	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.096;DP=731;ExcessHet=0;FS=4.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.064;SOR=0.735	GT:AD:DP:GQ:PL	0/1:75,83:158:99:1912,0,1829	9	0	1	0
chr11	124638727	124638727	G	C	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon9:c.C1135G:p.R379G,SIAE:NM_001199922:exon11:c.C1030G:p.R344G	.	.	.	.	.	.	.	.	.	.	.	752506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.698	0.192676062524	.	0.00159744	0.0007	0	0	0	0	4.517e-05	0.0022	0.0046	0.0005757	89	154602	rs200445560	0.0003	0.0003	0.0001	0.0005	0.0043	0.0003	0.0003	0.0040	0.0038	0	0	3.826e-05	0	0	0	5.216e-05	0.0002	0.0043	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	9.696e-05	0.0031	0.0026	0	0	6.538e-05	0	0	0	0	1.47e-05	0.0005	0.0046	0.002	0.72154	D	0.016	0.65728	D	0.951	0.53992	P	0.708	0.54437	P	0.000076	0.52346	D	0.121669	0.972911	0.38983	D	2.655	0.77738	M	-3.48	0.94584	D	-5.93	0.89029	D	0.711	0.71410	0.705	0.93234	D	0.833	0.94415	D	10	0.016949564	0.00359	T	0.192676	0.86258	D	0.698	0.89099	0.464	0.53404	0.769499545295	0.76738	0.8620605466665517	0.86170	0.689936938036	0.60511	0.614953637123	0.55016	T	0.869589	0.97172	D	0.00347425	0.52133	T	0.232755	0.84805	D	0.196828889016041	0.20239	T	0.89491	0.63503	D	0.8056902	0.84272	0.7819869	0.87151	0.7909152	0.83332	0.76750654	0.86270	-13.421	0.91023	D	.	.	0.664	0.71501	P	.;.;.	.;.;.	4.019156	0.59351	24.1	0.99798977857573223	0.88372	0.68706	0.33904	D	AEFDBHCI	0.257039	0.37585	N	0.323485759339052	0.57354	3.902602	0.288715131746288	0.54880	3.651797	0.999867387770669	0.44398	0.732398	0.92422	0	0.708844	0.79440	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.44	3.32	0.37134	0.995000	0.29307	.	.	0.676000	0.76740	0.966000	0.33990	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.5737:0.4263	12.558	0.55615	623	0.65786	.;.;.	.	.	.	.	.	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	0.001009	0.000000	0.000000	0.002941	0.000000	0.000000	0.003067	0.000000	0.05	983.43	34	chr11	124638727	.	G	C	983.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.621;DP=376;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.901;SOR=0.322	GT:AD:DP:GQ:PL	0/1:28,37:65:99:995,0,689	9	0	1	0
chr11	125918640	125918640	G	A	exonic	DDX25	.	nonsynonymous SNV	DDX25:NM_001330438:exon10:c.G709A:p.A237T,DDX25:NM_013264:exon10:c.G1051A:p.A351T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.00476149871992	.	.	8.31e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs746630800	6.159e-06	6.84e-06	2.723e-06	9.631e-06	2.988e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	2.988e-05	0	0	0	0	0	7.197e-06	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.987	0.77487	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.475	0.37068	L	3.29	0.06445	T	-3.75	0.71157	D	0.895	0.89465	-1.2107	0.00086	T	0.056	0.23753	T	10	0.87938786	0.87243	D	0.004761	0.11879	T	0.441	0.74447	0.755	0.88484	0.524428966543	0.52088	0.6282017345278916	0.62753	0.667035260848	0.59225	0.613000810146	0.54740	T	0.737249	0.92693	D	-0.00428222	0.51063	T	-0.0182258	0.69146	D	0.95899224281311	0.65417	D	0.836716	0.52437	T	0.7629268	0.81626	0.67757016	0.81063	0.7629268	0.81628	0.67757016	0.81063	-7.952	0.61912	D	.	.	0.356	0.61847	A	.;.;.	.;.;.	4.526032	0.71002	25.6	0.95517154907396951	0.27129	0.98530	0.83766	D	AEFDGBHCI	0.893232	0.83097	D	0.754598259381209	0.83204	7.956499	0.715818517764369	0.83578	8.059104	0.99999999999989	0.74766	0.631981	0.41245	0	0.563428	0.19063	0	0.779548	0.98927	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	9.457000	0.96793	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:1.0:0.0	18.166	0.89659	816	0.41767	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	713.43	34	chr11	125918640	.	G	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=389;ExcessHet=0;FS=2.106;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.119;SOR=1.05	GT:AD:DP:GQ:PL	0/1:41,31:72:99:725,0,931	9	0	1	0
chr12	67330	67335	GACAAG	-	exonic	IQSEC3	.	nonframeshift deletion	IQSEC3:NM_001170738:exon1:c.448_453del:p.D150_K151del	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319497418	5.325e-05	5.678e-05	4.268e-05	6.392e-05	0.0013	4.324e-05	3.996e-05	0.0006	0.0004	0	2.239e-05	7.657e-05	0	2.561e-05	0.0013	3.059e-05	3.324e-05	0.0003	4.593e-05	4.592e-05	3.852e-05	5.368e-05	0.0002	2.107e-05	1.525e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1521.39	33	chr12	67329	.	TGACAAG	T	1521.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.036;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.96;MQRankSum=-3.328;QD=10.08;ReadPosRankSum=-0.723;SOR=0.668	GT:AD:DP:GQ:PL	0/1:106,45:151:99:1533,0,4294	9	0	1	0
chr12	2688580	2688580	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129838:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129839:exon45:c.G5936A:p.R1979Q,CACNA1C:NM_001129846:exon45:c.G5885A:p.R1962Q,CACNA1C:NM_000719:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129829:exon46:c.G6041A:p.R2014Q,CACNA1C:NM_001129833:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129834:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129835:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129836:exon46:c.G5969A:p.R1990Q,CACNA1C:NM_001129840:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129841:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129842:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129843:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129844:exon46:c.G5909A:p.R1970Q,CACNA1C:NM_001167623:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001167625:exon46:c.G6098A:p.R2033Q,CACNA1C:NM_001129830:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129831:exon47:c.G6002A:p.R2001Q,CACNA1C:NM_001129832:exon47:c.G5978A:p.R1993Q,CACNA1C:NM_001167624:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129827:exon48:c.G6062A:p.R2021Q,CACNA1C:NM_199460:exon49:c.G6167A:p.R2056Q	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1472	48	2	0	52	0.0173565	.	.	.	99326	Long_QT_syndrome|not_provided|Short_QT_syndrome|CACNA1C-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	.	0.0017	0.00319489	0.0036	0.0002	0.0013	0.0001	0.0003	0.0021	0.0045	0.0162	0.0030918	478	154602	rs112414325	0.0023	0.0023	0.0019	0.0028	0.0156	0.0023	0.0022	0.0149	0.0146	0.0002	0.0014	0.0127	0	5.623e-05	0.0080	0.0013	0.0036	0.0156	0.0020	0.0020	0.0016	0.0023	0.0180	0.0018	0.0017	0.0150	0.0138	0.0004	0	0.0018	0.0135	0.0002	0	0.0102	0.0016	0.0043	0.0180	0.484	0.09776	T	0.586	0.11551	T	0.032	0.58535	B	0.005	0.52168	B	0.433660	0.12716	N	0.733016	0.999909	0.52935	D	.	.	.	0.53	0.55090	T	-0.51	0.18459	N	0.317	0.36674	-0.9378	0.42963	T	0.158	0.49060	T	10	0.006121576	0.00138	T	.	.	.	0.183	0.45592	.	.	0.774745351775	0.77267	0.42943405207208213	0.42860	0.220456262239	0.24588	0.339064538479	0.16298	T	0.005257	0.06762	T	-0.393694	0.02546	T	-0.325967	0.41916	T	0.0125000085483832	0.00207	T	.	.	.	.	.	.	.	.	.	.	.	-4.262	0.27641	T	.	.	0.1	0.20469	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.453092	0.48089	22.6	0.82543286476877942	0.14247	0.95520	0.65048	D	AEFDBI	0.740151	0.68449	D	-0.310102523607895	0.28764	1.589257	-0.162370008803943	0.32934	1.878767	0.999316768921301	0.39113	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	2.576000	0.45698	1.641000	0.27792	0.586000	0.30580	1.000000	0.71638	0.947000	0.28924	0.652000	0.32748	0.0797:0.0:0.9203:0.0	12.655	0.56145	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.002717	0.000000	0.000000	0.025862	0.018293	0.007576	0.05	2641.43	33	chr12	2688580	.	G	A	2641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.651;DP=540;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-2.098;SOR=0.536	GT:AD:DP:GQ:PL	0/1:103,114:217:99:2653,0,2368	9	0	1	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	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	.	.	.	.	.	.	.	.	0.15	177.49	40	chr12	4591262	.	T	C	177.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.537;DP=578;ExcessHet=0.7463;FS=186.015;InbreedingCoeff=-0.1777;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.63;SOR=8.155	GT:AD:DP:GQ:PL	0/1:68,15:83:28:28,0,2012	7	0	3	0
chr12	11267818	11267818	G	T	exonic	PRB3	.	nonsynonymous SNV	PRB3:NM_006249:exon3:c.C431A:p.P144Q	.	723	790	7	0	2	9	0.00441084	.	.	.	2334745	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00114189385537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs11054208	0.0080	0.0073	0.0083	0.0077	0.0095	0.0077	0.0076	0.0084	0.0082	0.0007	0.0033	0.0100	0.0043	0.0193	0.0095	0.0087	0.0076	0.0009	0.0049	0.0018	0.0049	0.0049	0.0075	0.0036	0.0031	0.0051	0.0044	0.0006	0	0.0015	0.0098	0.0058	0.0084	0	0.0075	0	0	.	.	.	0.006	0.76473	D	.	.	.	.	.	.	0.185600	0.16985	U	0.256476	0.999919	0.19599	N	.	.	.	3.03	0.09356	T	-1.08	0.28084	N	0.217	0.24260	-1.0624	0.11166	T	0.042	0.17910	T	9	0.0096514225	0.00217	T	0.001142	0.01410	T	0.061	0.17616	.	.	0.0482279557977	0.04254	0.2715663832854014	0.27069	0.308967699888	0.33215	0.349918544292	0.17909	T	0.078379	0.35877	T	-0.451337	0.01109	T	-0.426949	0.30281	T	0.515472710132599	0.33199	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.03964	B	.;.	.;.	-0.501618	0.01862	0.151	0.15388392824923505	0.00375	0.01705	0.05419	N	AEFBI	0.045288	0.07390	N	-0.835986777763414	0.12398	0.6040622	-1.1021909902097	0.07658	0.3733841	1.25647785645013E-5	0.02871	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	1.08	0.143	0.14116	0.003000	0.12984	-3.644000	0.02635	-4.013000	0.00047	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7069:0.2931	6.372	0.20691	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000600	0.000000	0.001441	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	115.45	35	chr12	11267818	.	G	T	115.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=373;ExcessHet=0;FS=23.69;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.05;MQ=33.3;MQRankSum=-0.512;QD=3.72;ReadPosRankSum=-1.064;SOR=3.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,7:31:99:0|1:11267818_G_T:127,0,844:11267818	9	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21125.9	234	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	21125.9	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.63;DP=2008;ExcessHet=0;FS=3.474;InbreedingCoeff=0.598;MLEAC=10;MLEAF=0.833;MQ=47.36;MQRankSum=-1.624;QD=24.8;ReadPosRankSum=-1.592;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:7,205:212:99:.:.:5690,574,0:.	2	4	0	4
chr12	12330907	12330907	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A416G:p.D139G,MANSC1:NM_001363613:exon5:c.A314G:p.D105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0146792314068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0039	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	3.975e-05	5.116e-05	0	0.0002	0.0004	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.15251	T	0.123	0.41573	T	0.002	0.09854	B	0.001	0.04355	B	0.663613	0.10405	N	0.800555	1	0.08975	N	1.245	0.31408	L	2.25	0.22881	T	-0.47	0.15178	N	0.031	0.01911	-0.9937	0.31643	T	0.030	0.12935	T	10	0.035876542	0.01857	T	0.014679	0.34954	T	0.016	0.02506	0.15	0.05339	0.0138822411134	0.00435	0.33148484278697865	0.33061	0.118754727936	0.13371	0.244366616011	0.03197	T	0.004238	0.10910	T	-0.346822	0.04929	T	-0.735962	0.04062	T	0.0301569309085608	0.02013	T	.	.	.	0.04236311	0.06411	0.026856218	0.00800	0.04236311	0.06410	0.026856218	0.00800	-3.929	0.22738	T	.	.	0.073	0.10545	B	.;.;.	.;.;.	0.071517	0.04796	1.408	0.89113004901921966	0.18522	0.01952	0.05932	N	AEFBI	0.048170	0.08193	N	-1.08359303296155	0.06945	0.3211853	-1.10572455078057	0.07590	0.3697953	0.779261376700607	0.23811	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.267	0.14876	-0.186000	0.09666	-1.883000	0.04557	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.220000	0.22462	0.0:0.2766:0.2406:0.4828	2.929	0.05440	612	0.66786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	66.76	51	chr12	12330907	.	T	C	66.76	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.655;DP=835;ExcessHet=0.7463;FS=103.856;InbreedingCoeff=-0.1671;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=0.767;SOR=9.744	GT:AD:DP:GQ:PL	0/1:81,26:107:8:8,0,1509	7	0	3	0
chr12	13090602	13090602	C	T	exonic	GSG1	.	nonsynonymous SNV	GSG1:NM_001080554:exon2:c.G265A:p.V89M,GSG1:NM_001080555:exon2:c.G265A:p.V89M,GSG1:NM_001206842:exon2:c.G265A:p.V89M,GSG1:NM_001206843:exon2:c.G226A:p.V76M,GSG1:NM_001206845:exon2:c.G226A:p.V76M,GSG1:NM_001367358:exon2:c.G265A:p.V89M,GSG1:NM_001367359:exon2:c.G265A:p.V89M,GSG1:NM_001367360:exon2:c.G265A:p.V89M,GSG1:NM_001367361:exon2:c.G265A:p.V89M,GSG1:NM_001367362:exon2:c.G265A:p.V89M,GSG1:NM_001367363:exon2:c.G265A:p.V89M,GSG1:NM_001367364:exon2:c.G265A:p.V89M,GSG1:NM_001368007:exon2:c.G226A:p.V76M,GSG1:NM_031289:exon2:c.G226A:p.V76M,GSG1:NM_153823:exon2:c.G226A:p.V76M	.	436	1071	13	2	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0206664809255	0.0012	0.00119808	0.0018	9.614e-05	0.0004	0	0	0.0022	0.0022	0.0040	0.0016494	255	154602	rs144983335	0.0013	0.0013	0.0011	0.0014	0.0066	0.0012	0.0012	0.0049	0.0044	0.0001	0.0008	0.0099	2.519e-05	9.36e-05	0.0066	0.0010	0.0016	0.0040	0.0011	0.0011	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0109	0.0002	0.0002	0.0068	0.0010	0.0033	0.0048	0.032	0.50132	D	0.006	0.72224	D	0.82	0.64070	P	0.446	0.57829	B	0.000569	0.43250	D	0.101500	0.966761	0.25879	N	2.31	0.66127	M	1.49	0.31470	T	-1.6	0.43334	N	0.233	0.45709	-0.8987	0.48125	T	0.153	0.48343	T	10	0.009343088	0.00211	T	0.020666	0.43310	T	0.102	0.29158	.	.	0.211220785272	0.20719	0.1817743636384318	0.18096	0.229546519496	0.25508	0.377721041441	0.21933	T	.	.	.	-0.403335	0.02201	T	-0.353612	0.38790	T	0.0944165238397986	0.11731	T	0.834417	0.50622	T	.	.	.	.	.	.	.	.	-5.467	0.47010	T	.	.	0.097	0.47116	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.849589	0.37622	20.5	0.99754537399279275	0.84537	0.88277	0.48132	D	AEFBI	0.523014	0.54679	D	0.301132813179315	0.56206	3.785084	0.312670558490132	0.56283	3.791481	0.999910397921076	0.45857	0.428477	0.06694	0	0.491513	0.07743	0	0.468601	0.07175	0	0.613276	0.41899	0	.	.	5.55	4.64	0.57399	1.164000	0.31420	3.312000	0.37472	0.599000	0.40250	0.935000	0.32453	1.000000	0.68203	0.997000	0.79791	0.1317:0.7987:0.0:0.0695	10.748	0.45391	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	0.004532	0.000000	0.005435	0.002924	0.050000	0.000000	0.009146	0.003788	0.05	1725.43	33	chr12	13090602	.	C	T	1725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=473;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-2.018;SOR=0.778	GT:AD:DP:GQ:PL	0/1:89,70:159:99:1737,0,2075	9	0	1	0
chr12	27475714	27475715	AG	-	exonic	SMCO2	.	frameshift deletion	SMCO2:NM_001145010:exon5:c.495_496del:p.E166Kfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.434e-06	1.368e-06	0	2.908e-06	3.2e-05	2.4e-07	9e-08	.	.	3.2e-05	0	0	0	0	0	0	1.73e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	857.39	34	chr12	27475713	.	CAG	C	857.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.957;DP=394;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.86;SOR=0.925	GT:AD:DP:GQ:PL	0/1:46,24:70:99:869,0,1823	9	0	1	0
chr12	31985805	31985805	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A4850G:p.H1617R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00376534877652	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372164733	1.413e-06	1.368e-06	0	2.845e-06	1.823e-06	2.4e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.823e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.02613	T	0.777	0.04372	T	0.0	0.02946	B	0.0	0.01387	B	0.002840	0.00920	N	2.919290	1	0.08975	N	-0.69	0.01958	N	2.93	0.09822	T	0.02	0.06739	N	0.054	0.02559	-0.9738	0.36387	T	0.012	0.04463	T	9	0.021632612	0.00522	T	0.003765	0.08744	T	0.027	0.05988	0.111	0.02112	0.0401082797425	0.02173	0.022416696464890074	0.02193	0.00861022644597	0.00783	0.26117643714	0.05032	T	0.003152	0.02556	T	-0.412527	0.01913	T	-0.830343	0.01256	T	0.0274385702889383	0.01608	T	0.369163	0.08660	T	0.03800989	0.04983	0.04055452	0.04409	0.03800989	0.04983	0.04055452	0.04409	-2.846	0.08615	T	.	.	0.074	0.05103	B	.	.	-0.246211	0.02863	0.405	0.15617991001939027	0.00389	0.02982	0.07833	N	AEFDBCI	0.021723	0.01000	N	-1.52728829899333	0.01672	0.07315853	-1.44311625370033	0.02833	0.1310537	0.938297803784132	0.27336	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.44	0.293	0.14992	-0.105000	0.10876	-2.567000	0.03600	-0.815000	0.03024	0.000000	0.06391	0.000000	0.08366	0.561000	0.30436	0.1136:0.3019:0.5145:0.0701	7.868	0.28712	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	.	.	.	.	.	.	.	.	0.05	1034.43	48	chr12	31985805	.	A	G	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.247;DP=523;ExcessHet=0;FS=3.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.447;SOR=1.105	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1046,0,831	9	0	1	0
chr12	38320549	38320549	T	G	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon3:c.T758G:p.L253W	.	0	1474	48	0	0	48	0.0160214	.	.	.	2806854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.185	0.00770233636556	0.0040	0.00179712	0.0042	0.0007	0.0064	0	0.0017	0.0052	0.0077	0.0042	0.003868	598	154602	rs140475027	0.0040	0.0040	0.0038	0.0041	0.0362	0.0039	0.0038	0.0322	0.0307	0.0008	0.0059	0.0070	2.52e-05	0.0013	0.0362	0.0039	0.0051	0.0041	0.0035	0.0035	0.0034	0.0036	0.0068	0.0032	0.0031	0.0057	0.0053	0.0007	0	0.0068	0.0058	0	0.0014	0.0340	0.0048	0.0062	0.0031	0.003	0.68238	D	0.026	0.55759	D	0.71	0.42074	P	0.225	0.38015	B	0.064624	0.21939	N	0.451949	0.999998	0.08975	N	2.575	0.75298	M	1.42	0.33189	T	-2.09	0.47683	N	0.552	0.57775	-1.0403	0.17223	T	0.055	0.23110	T	10	0.011118591	0.00244	T	0.007702	0.20431	T	0.185	0.45933	.	.	0.39724302092	0.39341	0.6957569625041998	0.69516	0.346047988278	0.36510	0.411681234837	0.26689	T	0.010982	0.09859	T	-0.398708	0.02361	T	-0.341488	0.40176	T	0.0361847429335446	0.03013	T	0.777622	0.41060	T	0.48294085	0.66078	0.5278043	0.72718	0.48294085	0.66079	0.5278043	0.72719	-6.486	0.50178	T	.	.	0.171	0.37577	B	.	.	2.245438	0.28674	17.88	0.74873181228380092	0.10859	0.92126	0.55002	D	AEFGI	0.296366	0.40623	N	-0.170831569317233	0.34354	1.959765	-0.300225260857327	0.28091	1.563584	8.2712102038478E-5	0.04703	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.23	2.07	0.26004	3.378000	0.52164	4.034000	0.41364	0.552000	0.28158	0.974000	0.34632	1.000000	0.68203	0.735000	0.35267	0.0:0.1196:0.0:0.8803	6.788	0.22866	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023666	0.025253	0.023098	0.064327	0.050000	0.008621	0.012195	0.003788	0.05	1984.43	34	chr12	38320549	.	T	G	1984.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=526;ExcessHet=0;FS=3.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.55;MQRankSum=-2.878;QD=9.1;ReadPosRankSum=-0.438;SOR=0.655	GT:AD:DP:GQ:PL	0/1:128,90:218:99:1996,0,3096	9	0	1	0
chr12	40484430	40484430	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950167408	2.879e-05	1.779e-05	1.784e-05	4.155e-05	6.073e-05	1.947e-05	1.636e-05	2.009e-05	1.678e-05	0	0	0	0	0	0	3.017e-05	0	6.073e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-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	.	.	.	.	.	.	.	.	0.05	8539.43	953	chr12	40484430	.	T	C	8539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.991;DP=7468;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.59;MQRankSum=0.325;QD=12.23;ReadPosRankSum=1.51;SOR=0.728	GT:AD:DP:GQ:PL	0/1:349,349:698:99:8551,0,9017	9	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:688,44:732:99:.:.:1204,0,28599:.	2	0	8	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	30359.1	877	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	30359.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.166;DP=10267;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=6;MLEAF=0.3;MQ=56.51;MQRankSum=-21.55;QD=5.08;ReadPosRankSum=-1.513;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:703,54:759:99:.:.:1543,0,28509:.	4	0	6	0
chr12	40487563	40487563	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	538	977	7	0	0	7	0.00356961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs948397939	0.0001	9.51e-05	0.0001	0.0002	0.0055	0.0001	0.0001	0.0029	0.0022	0.0001	0	0	0	0	0.0055	0.0001	0.0003	0.0012	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	0.0003	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	7867.43	792	chr12	40487563	.	G	A	7867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.99;DP=8003;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=4.22;QD=11.3;ReadPosRankSum=-1.506;SOR=0.613	GT:AD:DP:GQ:PL	0/1:377,319:696:99:7879,0,10086	9	0	1	0
chr12	49033018	49033018	G	C	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C11687G:p.S3896C	Kabuki syndrome 1, Autosomal dominant	33	1486	1	2	0	5	0.00167954	.	.	.	3045043	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.347	0.324754731464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204083573	4.288e-06	4.104e-06	4.231e-06	4.347e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	2.801e-05	0	0	0	0.0002	2.78e-06	0	1.262e-05	6.585e-06	6.572e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.004	0.65419	D	.	.	.	0.698	0.41805	P	0.159	0.34693	B	0.248048	0.03628	N	1.732920	0.995513	0.23271	N	0	0.06538	N	-2.84	0.91305	D	-1.09	0.28290	N	0.258	0.29197	-0.2824	0.75475	T	0.541	0.83065	D	10	0.19795388	0.35747	T	0.324755	0.91579	D	0.347	0.66863	.	.	0.265735104816	0.26182	0.5319623093396836	0.53121	0.561950777347	0.52692	0.403527736664	0.25560	T	0.054626	0.29777	T	-0.0289231	0.47574	T	-0.156778	0.58640	T	0.207693964242935	0.20832	T	0.421758	0.11220	T	0.105398566	0.24921	0.0894729	0.20926	0.105398566	0.24920	0.0894729	0.20925	-8.792	0.66348	D	.	.	0.116	0.23325	B	.	.	3.333815	0.45906	22.2	0.8065163240212736	0.13304	0.95545	0.65148	D	AEFDBCI	0.408641	0.48024	N	-0.0112850472618738	0.41345	2.471307	0.0851921491076589	0.43803	2.674564	0.999999994477489	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	3.435000	0.52611	0.000000	0.13247	0.672000	0.70159	0.953000	0.33222	0.988000	0.31051	0.875000	0.41745	0.0:0.0:1.0:0.0	17.378	0.87288	400	0.82730	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2458.43	44	chr12	49033018	.	G	C	2458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=743;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-1.894;SOR=0.855	GT:AD:DP:GQ:PL	0/1:105,100:205:99:2470,0,2611	9	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	.	.	.	.	.	.	.	.	0.3333	285.81	41	chr12	51706661	.	G	C	285.81	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.243;DP=517;ExcessHet=1.5895;FS=243.364;InbreedingCoeff=-0.4255;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.824;SOR=9.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,13:74:15:0|1:51706661_G_C:15,0,1947:51706661	2	0	4	4
chr12	52428646	52428646	C	G	exonic	KRT75	.	nonsynonymous SNV	KRT75:NM_004693:exon6:c.G1133C:p.R378T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.105601683641	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222475285	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.265	0.22694	T	0.999	0.77913	D	0.992	0.80445	D	0.001697	0.38271	N	0.114429	0.85787	0.35335	D	1.705	0.44259	L	-2.35	0.88066	D	-5.02	0.82511	D	0.541	0.56833	0.307	0.87672	D	0.681	0.88966	D	10	0.6862474	0.71580	D	0.105602	0.78080	D	0.556	0.81717	0.569	0.69167	0.729413103106	0.72701	0.6508277644876584	0.65018	0.555580429319	0.52254	0.276075541973	0.06951	T	0.462614	0.79890	T	0.0952893	0.63780	D	-0.1009	0.63329	T	0.990935504436493	0.81175	D	0.773423	0.40508	T	0.5046038	0.67364	0.47060174	0.69302	0.5046038	0.67365	0.47060174	0.69303	-10.756	0.78303	D	.	.	0.289	0.52119	B	.	.	3.972825	0.58349	24.0	0.98652130673973359	0.44206	0.94583	0.61639	D	AEFGBI	0.515640	0.54251	D	0.283679583113255	0.55321	3.696211	0.254390191951415	0.52900	3.46179	0.998944230225933	0.38034	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	3.99	0.45527	0.736000	0.25798	.	.	0.599000	0.40250	0.066000	0.21956	1.000000	0.68203	0.975000	0.56047	0.0:0.7661:0.0:0.2339	9.040	0.35474	768	0.49510	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5111.12	37	chr12	52428646	.	C	G	5111.12	.	AC=2;AF=0.1;AN=20;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.61;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5134,501,0	9	1	0	0
chr12	53253853	53253853	C	T	exonic	MFSD5	.	nonsynonymous SNV	MFSD5:NM_001170790:exon2:c.C1339T:p.P447S,MFSD5:NM_032889:exon2:c.C1018T:p.P340S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.100853124585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.91255	T	0.023	0.57104	D	0.996	0.68779	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	-1.49	0.81235	T	-2.47	0.53898	N	0.786	0.79118	0.012	0.82506	D	0.547	0.83379	D	9	0.7330787	0.74432	D	0.100853	0.77340	D	0.537	0.80605	0.316	0.29258	0.876070740105	0.87485	0.7110397811308901	0.71045	0.865682130374	0.69194	0.652387201786	0.60324	T	0.06749	0.33214	T	0.267449	0.80211	D	0.146395	0.79957	D	0.984932482242584	0.76082	D	0.883312	0.60567	D	0.42637163	0.62513	0.46505147	0.68954	0.42637163	0.62514	0.46505147	0.68954	-2.977	0.09935	T	.	.	0.367	0.57652	A	.;.	.;.	3.781426	0.54376	23.5	0.99830034959998637	0.91198	0.98185	0.80341	D	AEFBI	0.902442	0.85034	D	0.599469188320634	0.73143	5.917989	0.616116337095668	0.76111	6.431006	0.999999999999987	0.74766	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	7.476000	0.80054	7.609000	0.61840	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.987	0.86215	701	0.57775	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2137.43	38	chr12	53253853	.	C	T	2137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.358;DP=478;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.615;SOR=0.798	GT:AD:DP:GQ:PL	0/1:60,87:147:99:2149,0,1420	9	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	0.05	1869.43	40	chr12	53299799	.	C	T	1869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.355;DP=526;ExcessHet=0;FS=2.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.302;SOR=0.96	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1881,0,1787	9	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	678.61	78	chr12	54363394	.	G	A	678.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.666;DP=970;ExcessHet=2.8389;FS=217.393;InbreedingCoeff=-0.4287;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.14;SOR=9.401	GT:AD:DP:GQ:PL	0/1:75,29:107:99:102,0,1784	3	0	5	2
chr12	55574598	55574598	C	T	exonic	OR2AP1	.	nonsynonymous SNV	OR2AP1:NM_001258285:exon1:c.C184T:p.R62W	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00187121934396	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779875070	2.881e-05	2.805e-05	2.845e-05	2.918e-05	0.0002	2.171e-05	1.912e-05	2.512e-05	1.71e-05	9.483e-05	0	0	5.583e-05	0	0.0002	2.777e-05	5.155e-05	1.26e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.037	0.43085	D	0.076	0.42614	T	.	.	.	.	.	.	0.042817	0.23804	N	0.299392	1	0.08975	N	1.965	0.53209	M	6.59	0.00519	T	-5.77	0.87911	D	0.105	0.08925	-0.8988	0.48115	T	0.002	0.00615	T	7	0.15620545	0.29424	T	0.001871	0.03272	T	0.052	0.14661	.	.	0.292787519742	0.28880	0.3527231793749124	0.35186	0.00101187139481	0.00087	0.153360813856	0.00006	T	0.022013	0.17042	T	-0.218546	0.18190	T	-0.551702	0.17163	T	0.509299459563394	0.32971	D	0.529047	0.17505	T	0.19136247	0.40760	0.23078425	0.48191	0.19136247	0.40760	0.23078425	0.48190	-10.002	0.73925	D	.	.	0.151	0.35435	B	.;.	.;.	1.438638	0.18577	13.81	0.98292035149785728	0.39954	0.01530	0.05038	N	AEFGI	0.124944	0.24123	N	-0.481833591890558	0.22676	1.212503	-0.552300869917418	0.20745	1.11908	7.79066715737094E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	-0.792	0.10374	-2.392000	0.01134	.	.	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3196:0.4492:0.0:0.2312	4.845	0.12869	685	0.59416	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	.	.	.	.	.	.	.	.	0.05	2116.43	34	chr12	55574598	.	C	T	2116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=478;ExcessHet=0;FS=1.252;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.157;SOR=0.741	GT:AD:DP:GQ:PL	0/1:72,86:158:99:2128,0,1604	9	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S,TIMELESS:NM_003920:exon5:c.G385T:p.A129S	.	430	1051	41	0	0	41	0.0191321	.	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless 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	1	0	0.010070	0.000000	0.005435	0.002924	0.000000	0.000000	0.018293	0.034091	0.1	1799.14	34	chr12	56433425	.	C	A	1799.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.566;DP=426;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.791;SOR=0.713	GT:AD:DP:GQ:PL	0/1:42,37:79:99:928,0,1081	8	0	2	0
chr12	57533300	57533300	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001261412:exon8:c.G679A:p.A227T,DCTN2:NM_001261413:exon8:c.G673A:p.A225T,DCTN2:NM_001348065:exon8:c.G808A:p.A270T,DCTN2:NM_001348068:exon9:c.G412A:p.A138T,DCTN2:NM_001348066:exon10:c.G604A:p.A202T,DCTN2:NM_001348067:exon10:c.G412A:p.A138T	.	430	1089	3	0	0	3	0.00137552	.	.	.	1693597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.567	0.00551967512263	0.0002	.	0.0003	0	0	0.0001	0	0.0004	0	0.0010	0.0003169	49	154602	rs200168725	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	6.708e-05	0	0.0003	3.746e-05	0.0007	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.715e-05	0.0002	0.0002	2.408e-05	0	0	0	0	0	0	0.0003	0	0.0004	0.002	0.72154	D	0.008	0.67890	D	1.0	0.90584	D	0.99	0.78936	D	0.000004	0.62929	D	0.103032	1	0.81001	D	1.62	0.41497	L	.	.	.	-3.25	0.65512	D	0.574	0.64733	-0.3807	0.72629	T	0.422	0.76677	T	9	0.20442232	0.36632	T	0.00552	0.14227	T	0.567	0.82346	.	.	0.493892876729	0.49021	0.4182581277402809	0.41741	0.322224007838	0.34417	0.618051528931	0.55453	T	0.468503	0.80241	T	-0.224342	0.17404	T	-0.16385	0.58004	T	0.147591843545172	0.16910	T	0.940606	0.77799	D	0.5252551	0.68560	0.56992096	0.75098	0.5252551	0.68562	0.56992096	0.75098	-5.786	0.46472	T	.	.	0.106	0.28027	B	.;.;.;.;.;.	.;.;.;.;.;.	4.817670	0.78441	26.9	0.99932927586883569	0.99488	0.97489	0.75080	D	AEFDBI	0.600411	0.59305	D	0.644463995398655	0.76010	6.40842	0.619133790384352	0.76329	6.471172	0.999999999749099	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	4.608000	0.60847	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	17.710	0.88224	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.05	1160.43	35	chr12	57533300	.	C	T	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.952;SOR=0.77	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1172,0,899	9	0	1	0
chr12	57614041	57614041	A	C	exonic	ARHGEF25	.	nonsynonymous SNV	ARHGEF25:NM_001347933:exon6:c.A578C:p.Q193P,ARHGEF25:NM_182947:exon6:c.A578C:p.Q193P,ARHGEF25:NM_001111270:exon7:c.A695C:p.Q232P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00771489263232	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429355540	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.345	0.12511	T	0.379	0.18125	T	0.002	0.09854	B	0.015	0.17295	B	0.050877	0.23032	N	0.222920	0.998557	0.45078	D	0.81	0.20779	L	1.03	0.40469	T	-2.93	0.61284	D	0.401	0.46928	-1.0982	0.04315	T	0.049	0.20711	T	10	0.116456896	0.21969	T	0.007715	0.20457	T	0.149	0.39377	0.466	0.53729	0.148003135375	0.14442	0.625672890614222	0.62500	0.646346701716	0.58049	0.384624928236	0.22910	T	0.083014	0.36958	T	-0.118445	0.33378	T	-0.407915	0.32465	T	0.579513370990753	0.35600	D	0.928707	0.73770	D	0.5900053	0.72151	0.36502552	0.61859	0.5900053	0.72152	0.36502552	0.61859	-6.189	0.48722	T	.	.	0.327	0.58948	B	.;.;.	.;.;.	2.771114	0.36375	20.2	0.98803814790319466	0.46493	0.32185	0.24523	N	AEFDBCI	0.424953	0.48992	N	-0.656878994377736	0.17260	0.8866516	-0.498998294073779	0.22182	1.203538	0.999996588905946	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.493711	0.08198	1	0.59522	0.37078	0	.	.	4.83	3.69	0.41483	1.270000	0.32689	4.080000	0.41731	0.756000	0.94297	0.001000	0.13787	1.000000	0.68203	0.908000	0.44358	0.8254:0.0:0.1746:0.0	7.800	0.28332	296	0.88164	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2283.43	50	chr12	57614041	.	A	C	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.223;DP=538;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.954;SOR=0.69	GT:AD:DP:GQ:PL	0/1:94,101:195:99:2295,0,2234	9	0	1	0
chr12	57614054	57614054	G	T	exonic	ARHGEF25	.	nonsynonymous SNV	ARHGEF25:NM_001347933:exon6:c.G591T:p.E197D,ARHGEF25:NM_182947:exon6:c.G591T:p.E197D,ARHGEF25:NM_001111270:exon7:c.G708T:p.E236D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00722623158909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463355923	4.788e-06	4.788e-06	1.361e-06	8.25e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.329	0.13175	T	0.518	0.10536	T	0.001	0.07471	B	0.007	0.12992	B	0.001676	0.38326	N	0.000000	0.999977	0.53665	D	0.845	0.21182	L	-0.27	0.67367	T	-0.71	0.20145	N	0.177	0.19055	-0.9764	0.35816	T	0.174	0.51801	T	10	0.080456376	0.13061	T	0.007226	0.19171	T	0.046	0.12618	0.388	0.40951	0.361758802978	0.35793	0.3434673228362613	0.34259	0.20594620734	0.23017	0.610625863075	0.54405	T	0.009674	0.08796	T	-0.108954	0.34940	T	-0.394281	0.34051	T	0.157190337777138	0.17662	T	0.89951	0.64815	D	0.21414806	0.43813	0.14715762	0.34835	0.21414806	0.43813	0.14715762	0.34834	-3.371	0.18524	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.963213	0.24940	16.58	0.9569255716008831	0.27572	0.70684	0.34693	D	AEFDBCI	0.274513	0.38968	N	-0.741731246311062	0.14860	0.7438098	-0.568780161555673	0.20309	1.093621	0.999981071735642	0.51787	0.609539	0.35627	0	0.378119	0.05977	1	0.493711	0.08198	1	0.59522	0.37078	0	.	.	4.83	2.94	0.33188	0.534000	0.22807	4.400000	0.43244	-0.104000	0.15758	0.999000	0.42656	1.000000	0.68203	0.721000	0.34804	0.2319:0.0:0.7681:0.0	11.473	0.49527	296	0.88164	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2455.43	50	chr12	57614054	.	G	T	2455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.689;DP=551;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.34;SOR=0.788	GT:AD:DP:GQ:PL	0/1:100,103:203:99:2467,0,2486	9	0	1	0
chr12	72272710	72272710	A	C	exonic	TRHDE	.	nonsynonymous SNV	TRHDE:NM_013381:exon1:c.A67C:p.K23Q	.	326	1195	1	0	0	1	0.000418235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484330967	3.188e-06	4.125e-06	3.102e-06	3.279e-06	2.992e-06	7.5e-07	5e-07	8e-07	2.2e-07	0	0	0	0	0	0	2.992e-06	1.908e-05	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	.	.	.	.	.	.	.	.	0.05	81.46	13	chr12	72272710	.	A	C	81.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=113;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=0;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,4:15:93:1|0:72272708_G_GGCA:93,0,415:72272708	9	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	.	.	.	.	.	.	.	.	0.05556	107.05	33	chr12	76059802	.	A	G	107.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.031;DP=518;ExcessHet=0;FS=115.683;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-0.066;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,11:48:99:0|1:76059802_A_G:118,0,1074:76059802	8	0	1	1
chr12	79796908	79796908	T	C	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon16:c.A2167G:p.T723A,PPP1R12A:NM_001143886:exon17:c.A2074G:p.T692A,PPP1R12A:NM_002480:exon17:c.A2335G:p.T779A,PPP1R12A:NM_001143885:exon18:c.A2335G:p.T779A,PPP1R12A:NM_001244990:exon18:c.A2335G:p.T779A	.	432	1078	11	1	0	13	0.00599355	.	.	.	1617562	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00487012770318	.	0.00159744	0.0015	0	0.0003	0	0	0.0003	0.0022	0.0094	0.0012419	192	154602	rs201175104	0.0006	0.0006	0.0004	0.0008	0.0083	0.0006	0.0006	0.0078	0.0076	0	0.0004	3.831e-05	2.525e-05	0	0.0033	0.0001	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0001	0	0	0	0.0034	0.0001	0	0.0060	0.117	0.31682	T	0.304	0.23570	T	0.0	0.16609	B	0.0	0.16012	B	0.012556	0.29135	N	0.403521	0.880034	0.44417	D	1.18	0.29980	L	1.21	0.37746	T	-1.66	0.42575	N	0.106	0.13198	-1.0695	0.09523	T	0.049	0.21026	T	10	0.0052392483	0.00114	T	0.00487	0.12224	T	0.018	0.03083	.	.	0.334371577756	0.33041	0.14743659216693095	0.14665	0.128782013625	0.14521	0.346563100815	0.17415	T	0.236569	0.60407	T	-0.518218	0.00451	T	-0.512174	0.21092	T	0.0133029066152891	0.00238	T	0.734227	0.35417	T	0.04064586	0.05840	0.04548814	0.06130	0.04064586	0.05840	0.04548814	0.06129	-4.452	0.31227	T	.	.	0.064	0.02639	B	.;.;.;.;.	.;.;.;.;.	2.155080	0.27454	17.47	0.98668010789882676	0.44428	0.72737	0.35593	D	AEFBI	0.097586	0.19680	N	-0.361977633314355	0.26835	1.467603	-0.184481747318355	0.32106	1.823349	0.0292048284316731	0.13874	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.34	0.37357	0.543000	0.22945	1.497000	0.26929	0.665000	0.62972	0.888000	0.31154	1.000000	0.68203	0.998000	0.85391	0.122:0.1361:0.0:0.7419	6.524	0.21486	796	0.45353	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	1698.14	35	chr12	79796908	.	T	C	1698.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.27;DP=446;ExcessHet=0.2348;FS=0.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.53;SOR=0.752	GT:AD:DP:GQ:PL	0/1:37,42:79:99:881,0,942	8	0	2	0
chr12	82399261	82399261	A	G	exonic	METTL25	.	nonsynonymous SNV	METTL25:NM_001319675:exon4:c.A737G:p.N246S,METTL25:NM_032230:exon4:c.A998G:p.N333S,METTL25:NM_001347934:exon5:c.A842G:p.N281S	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00659430235805	.	.	5.791e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs756275185	6.569e-05	6.567e-05	6.808e-05	6.327e-05	0.0050	5.496e-05	5.108e-05	0.0036	0.0031	0	6.712e-05	0.0008	2.526e-05	0	0.0050	2.249e-05	0.0003	1.16e-05	2.626e-05	2.625e-05	2.57e-05	2.686e-05	2.405e-05	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0.0003	0	0	0.0068	0	0	0	0.845	0.02774	T	0.606	0.07791	T	0.002	0.09854	B	0.007	0.12992	B	0.334711	0.14057	N	0.745147	1	0.08975	N	0.49	0.13296	N	1.61	0.28391	T	-0.2	0.10136	N	0.032	0.00825	-0.9842	0.34022	T	0.036	0.15378	T	10	0.03261143	0.01416	T	0.006594	0.17386	T	0.004	0.00165	0.192	0.10304	0.0401082797425	0.02173	0.19233553522075644	0.19151	0.016213409697	0.01556	0.210784077644	0.00845	T	0.001403	0.00865	T	-0.497732	0.00589	T	-0.755763	0.03267	T	0.014251233297508	0.00282	T	0.555444	0.19245	T	0.019747352	0.00512	0.018491797	0.00057	0.019747352	0.00512	0.018491797	0.00057	-2.663	0.06998	T	.	.	0.062	0.01271	B	.	.	-0.409761	0.02176	0.214	0.36018325929729655	0.02293	0.10490	0.15983	N	AEFBCI	0.052655	0.09418	N	-1.29823263890111	0.03697	0.1656253	-1.28812215849452	0.04591	0.2168773	6.21131982046215E-5	0.04366	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	0.119	0.13989	0.008000	0.13095	0.218000	0.16040	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.5687:0.0:0.3112:0.1202	5.737	0.17339	920	0.19381	Methyltransferase 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	0.002016	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	715.43	40	chr12	82399261	.	A	G	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.364;SOR=0.646	GT:AD:DP:GQ:PL	0/1:31,28:59:99:727,0,695	9	0	1	0
chr12	96247220	96247220	C	T	exonic	ELK3	.	nonsynonymous SNV	ELK3:NM_005230:exon3:c.C488T:p.T163M	.	425	1095	2	0	0	2	0.000912409	.	.	.	3670923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0294066094612	.	.	1.66e-05	9.707e-05	0	0	0	1.51e-05	0	0	1.94e-05	3	154602	rs1064000	9.577e-06	9.577e-06	9.529e-06	9.626e-06	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	7.557e-05	0	0.0003	3.597e-06	0	5.797e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.035	0.43708	D	0.097	0.39190	T	1.0	0.90584	D	0.985	0.76457	D	0.026436	0.25921	N	0.478445	0.997744	0.81001	D	1.71	0.44315	L	1.47	0.31987	T	-1.68	0.40082	N	0.442	0.48042	-0.8418	0.52527	T	0.172	0.51357	T	10	0.38160634	0.54236	T	0.029407	0.51922	D	0.062	0.17934	.	.	0.590403266352	0.58716	0.4460959709451003	0.44527	0.789580293224	0.65707	0.642176806927	0.58873	T	0.164014	0.50930	T	-0.224665	0.17361	T	-0.378964	0.35845	T	0.567186236381531	0.35127	D	0.813119	0.46553	T	0.14245677	0.32782	0.11565876	0.27920	0.14245677	0.32782	0.11565876	0.27919	-4.155	0.26097	T	.	.	0.075	0.05535	B	.	.	4.033411	0.59656	24.1	0.99867745463923507	0.94547	0.90109	0.51032	D	AEFDBCI	0.395266	0.47219	N	0.617342196880353	0.74271	6.104416	0.586525092644827	0.73973	6.058756	0.999999998859637	0.74766	0.722319	0.85440	0	0.577304	0.33150	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.28	4.38	0.52019	3.889000	0.55925	3.875000	0.40208	0.524000	0.24156	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.9266:0.0:0.0734	14.277	0.65738	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1527.43	33	chr12	96247220	.	C	T	1527.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.617;DP=577;ExcessHet=0;FS=1.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.995;SOR=0.8	GT:AD:DP:GQ:PL	0/1:95,66:161:99:1539,0,2328	9	0	1	0
chr12	100210141	100210141	A	T	exonic	ACTR6	.	nonsynonymous SNV	ACTR6:NM_022496:exon5:c.A448T:p.S150C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00710328169028	.	.	8.248e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs749837018	2.743e-06	2.736e-06	4.094e-06	1.378e-06	3.604e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.604e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.13	0.34716	T	0.02	0.27095	B	0.055	0.25995	B	0.000002	0.62929	D	0.160399	0.999986	0.54805	D	1.495	0.37439	L	2.98	0.09356	T	-2.52	0.54702	D	0.735	0.73555	-1.1078	0.03265	T	0.031	0.13242	T	10	0.45677432	0.59037	T	0.007103	0.18814	T	0.297	0.61730	.	.	0.436348499334	0.43257	0.7921880391790337	0.79170	1.2750721008	0.82383	0.81901037693	0.84877	D	0.63356	0.95192	D	0.0592159	0.59514	T	-0.137231	0.60358	T	0.710338294506073	0.41217	D	0.937806	0.78488	D	0.41442668	0.61719	0.15598713	0.36540	0.41442668	0.61719	0.15598713	0.36539	-8.283	0.62982	D	.	.	0.114	0.36033	B	.;.;.;.;.	.;.;.;.;.	3.911914	0.57055	23.8	0.9066434649657672	0.19915	0.91595	0.53857	D	AEFBI	0.422440	0.48844	N	0.088749671828512	0.45937	2.842122	0.253654921505295	0.52856	3.457857	0.0526205722252348	0.14912	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.2	5.2	0.71720	5.457000	0.66411	10.874000	0.84024	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.517	0.75568	776	0.48302	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	685.43	36	chr12	100210141	.	A	T	685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=409;ExcessHet=0;FS=0.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-1.938;SOR=0.811	GT:AD:DP:GQ:PL	0/1:56,29:85:99:697,0,1406	9	0	1	0
chr12	101293173	101293173	T	A	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon11:c.T1179A:p.F393L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0181986788865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.012	0.63918	D	0.153	0.28093	B	0.027	0.21085	B	0.000000	0.84330	N	0.051808	0.999613	0.47849	D	1.875	0.49914	L	0.08	0.61559	T	-2.02	0.46503	N	0.406	0.44666	-0.9712	0.36946	T	0.158	0.49111	T	10	0.17921174	0.33044	T	0.018199	0.40183	T	0.147	0.38986	0.393	0.41770	0.495839474393	0.49220	0.4923068804522452	0.49151	0.142435112065	0.16065	0.570388734341	0.48732	T	0.010414	0.09410	T	-0.0688808	0.41507	T	-0.336719	0.40717	T	0.657499253749847	0.38786	D	0.672833	0.28129	T	0.20820872	0.43050	0.16133386	0.37531	0.20820872	0.43049	0.16133386	0.37530	-2.255	0.04316	T	.	.	0.663	0.71456	P	.	.	2.907187	0.38547	20.8	0.98608382245154846	0.43598	0.92724	0.56391	D	AEFBI	0.300930	0.40959	N	-0.244555999960019	0.31322	1.755076	-0.13034727589911	0.34173	1.96279	0.0010712339865487	0.08194	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.21	4.02	0.45968	1.484000	0.35116	2.835000	0.35045	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.1486:0.0:0.8514	9.268	0.36810	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	901.43	33	chr12	101293173	.	T	A	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.824;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.98;SOR=0.679	GT:AD:DP:GQ:PL	0/1:31,41:72:99:913,0,601	9	0	1	0
chr12	113960083	113960083	G	T	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon3:c.C315A:p.D105E,RBM19:NM_001146699:exon3:c.C315A:p.D105E,RBM19:NM_016196:exon3:c.C315A:p.D105E	.	423	1098	1	0	0	1	0.000455166	.	.	.	3308895	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00137909186168	7.7e-05	.	8.237e-05	9.61e-05	0.0002	0	0	7.492e-05	0	0.0001	7.12e-05	11	154602	rs146764943	4.652e-05	4.652e-05	4.628e-05	4.675e-05	0.0005	3.727e-05	3.411e-05	0.0001	7.544e-05	0	0.0001	3.826e-05	0	0	0.0005	3.147e-05	0.0003	4.637e-05	8.54e-05	8.536e-05	0.0001	4.034e-05	0.0004	4.956e-05	3.962e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	7.348e-05	0.0005	0	0.259	0.16628	T	0.424	0.13953	T	0.001	0.07471	B	0.001	0.04355	B	0.274521	0.15063	N	0.653494	1	0.08975	N	1.195	0.30194	L	3.52	0.04905	T	-0.2	0.10136	N	0.132	0.12913	-0.9247	0.44901	T	0.009	0.03315	T	10	0.04162994	0.02835	T	0.001379	0.02011	T	0.068	0.19811	0.218	0.13932	0.167679373172	0.16340	0.1420934170241329	0.14132	0.115394784814	0.13013	0.296946167946	0.09948	T	0.050726	0.28678	T	-0.569256	0.00224	T	-0.800428	0.01892	T	0.0203263518081323	0.00732	T	0.436756	0.11992	T	0.019116687	0.00437	0.034905422	0.02641	0.019116687	0.00437	0.034905422	0.02641	-3.354	0.14444	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	0.865307	0.12376	8.916	0.94052934284312351	0.24183	0.27885	0.23401	N	AEFBCI	0.089428	0.18126	N	-1.07076595127551	0.07186	0.3330816	-1.05963301236464	0.08506	0.418624	0.00312457801702263	0.09942	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	0.889	0.18346	0.064000	0.14310	1.065000	0.23755	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.2856:0.2922:0.2727:0.1495	0.893	0.01179	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	742.43	37	chr12	113960083	.	G	T	742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.232;SOR=0.623	GT:AD:DP:GQ:PL	0/1:40,32:72:99:754,0,961	9	0	1	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.1	1674.14	33	chr12	124012566	.	A	G	1674.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.404;DP=577;ExcessHet=0.2348;FS=2.356;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=0.95;SOR=0.865	GT:AD:DP:GQ:PL	0/1:87,37:124:99:787,0,2281	8	0	2	0
chr12	129074525	129074525	C	T	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.G2650A:p.D884N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0141969403625	.	.	2.471e-05	0	0.0002	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs775031413	1.437e-05	1.436e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	0.0001	7.816e-05	0	0.0002	0	0	0	0.0002	9.892e-06	0	0	3.946e-05	3.941e-05	5.142e-05	2.694e-05	0.0003	1.717e-05	1.13e-05	8.885e-05	5.391e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0	0.083	0.33091	T	0.023	0.61642	D	0.983	0.90584	D	0.496	0.76113	P	0.000099	0.51296	D	0.079595	0.999867	0.50061	D	2.72	0.79541	M	2.86	0.10482	T	-3.57	0.68999	D	0.076	0.05670	-0.9483	0.41263	T	0.100	0.37060	T	9	0.27295476	0.44841	T	0.014197	0.34156	T	0.157	0.40909	0.282	0.23801	0.523631425315	0.52008	0.3111099362888599	0.31023	0.510007423697	0.49133	0.356622368097	0.18893	T	0.149904	0.48913	T	-0.499548	0.00575	T	-0.700297	0.05809	T	0.909156918525696	0.56397	D	0.867913	0.70849	D	0.18062474	0.39193	0.15671214	0.36678	0.18062474	0.39193	0.15671214	0.36677	-5.603	0.53536	T	.	.	0.090	0.12797	B	.;.	.;.	3.577900	0.50425	22.9	0.99769957730378089	0.85834	0.91467	0.53593	D	AEFDBI	0.594645	0.58950	D	0.275863475802203	0.54928	3.657392	0.138567382037443	0.46540	2.898291	0.682695549677204	0.22498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	4.2	0.48814	3.489000	0.53000	2.165000	0.31010	0.599000	0.40250	0.990000	0.36992	0.874000	0.27626	0.439000	0.27649	0.0:1.0:0.0:0.0	16.884	0.85939	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3167.43	34	chr12	129074525	.	C	T	3167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=525;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.643;SOR=0.783	GT:AD:DP:GQ:PL	0/1:90,115:205:99:3179,0,2151	9	0	1	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.15	3563.45	36	chr12	131756617	.	A	G	3563.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.439;DP=524;ExcessHet=0.7463;FS=4.886;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.114;SOR=0.467	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1254,0,865	7	0	3	0
chr13	29024705	29024705	G	A	exonic	MTUS2	.	nonsynonymous SNV	MTUS2:NM_001384606:exon2:c.G7A:p.V3I,MTUS2:NM_001033602:exon3:c.G7A:p.V3I,MTUS2:NM_001366650:exon3:c.G7A:p.V3I,MTUS2:NM_001366651:exon3:c.G7A:p.V3I,MTUS2:NM_001384605:exon3:c.G7A:p.V3I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00798722	0.0028	0	8.649e-05	0.0357	0	7.571e-05	0.0034	0.0009	0.0025873	400	154602	rs117237504	0.0012	0.0012	0.0012	0.0012	0.0348	0.0011	0.0011	0.0333	0.0327	2.987e-05	8.945e-05	0	0.0348	0	0.0002	7.016e-05	0.0027	0.0012	0.0015	0.0015	0.0013	0.0018	0.0394	0.0013	0.0013	0.0350	0.0333	0	0	0.0005	0	0.0394	0	0	8.82e-05	0.0028	0.0010	.	.	.	0.101	0.38596	T	.	.	.	.	.	.	0.252069	0.15488	N	0.571572	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.029	0.00666	-1.0302	0.20390	T	0.007	0.02399	T	9	0.0034261048	0.00060	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	0.270558893681	0.06214	T	.	.	.	-0.716051	0.00029	T	-0.774174	0.02633	T	0.0123406700196948	0.00201	T	0.508249	0.16142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.282371	0.02696	0.351	0.90926310149992662	0.20175	0.10803	0.16203	N	AEFBI	0.040920	0.06153	N	-0.797943398593655	0.13363	0.6577885	-0.82392344567693	0.13916	0.7244619	4.64513304179687E-4	0.07066	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.84	1.84	0.24348	0.089000	0.14843	-2.038000	0.04307	-1.454000	0.01091	0.012000	0.18695	0.000000	0.08366	0.121000	0.19209	0.4127:0.0:0.5873:0.0	8.388	0.31673	844	0.36711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	601.43	34	chr13	29024705	.	G	A	601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.44;SOR=0.813	GT:AD:DP:GQ:PL	0/1:32,24:56:99:613,0,741	9	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	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,39:123:99:0|1:42303096_G_C:315,0,2032:42303096	3	0	7	0
chr13	44574591	44574591	A	T	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_001243799:exon1:c.T1484A:p.V495E,TSC22D1:NM_183422:exon1:c.T1484A:p.V495E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0110378029837	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs753469066	3.078e-05	3.078e-05	2.042e-05	4.125e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0.0002	0	3.312e-05	0.0005	6.579e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.78490	D	0.053	0.53788	T	0.622	0.39964	P	0.247	0.38902	B	0.011132	0.29649	N	0.233607	0.92907	0.36915	D	1.7	0.43825	L	1.42	0.33189	T	-1.41	0.48850	N	0.568	0.61256	-1.0742	0.08514	T	0.051	0.21572	T	10	0.1138401	0.21399	T	0.011038	0.28250	T	0.146	0.38789	0.273	0.22369	0.334885890373	0.33091	0.30169689716284465	0.30082	0.169148134631	0.19067	0.414012819529	0.27012	T	0.509508	0.82631	D	-0.264527	0.12374	T	-0.253589	0.49462	T	0.163362591042196	0.18117	T	0.615438	0.30359	T	0.5203244	0.68278	0.5431106	0.73592	0.5203244	0.68279	0.5431106	0.73592	-6.111	0.51810	T	.	.	0.265	0.49912	B	.;.	.;.	2.343803	0.30040	18.31	0.98085899632385964	0.38149	0.53919	0.29488	D	AEFDBCIJ	0.310572	0.41655	N	-0.344178553994518	0.27487	1.508428	-0.318649761666232	0.27497	1.526171	0.99999998844108	0.74766	0.722319	0.85440	0	0.0	0.00010	3	0.639134	0.45391	0	0.735409	0.98432	0	.	.	4.57	3.39	0.37919	0.437000	0.21261	1.152000	0.24488	0.691000	0.84096	0.017000	0.19353	0.019000	0.20708	0.856000	0.40543	0.9044:0.0:0.0956:0.0	7.978	0.29326	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	964.43	34	chr13	44574591	.	A	T	964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=521;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.704;SOR=0.78	GT:AD:DP:GQ:PL	0/1:59,37:96:99:976,0,1582	9	0	1	0
chr13	45549921	45549921	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon13:c.A1618G:p.T540A	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0031	0.00159744	0.0054	0.0005	0	0	0	0.0120	0	0.0015	0.0014942	231	154602	rs138019495	0.0046	0.0044	0.0046	0.0045	0.0137	0.0045	0.0044	0.0112	0.0103	0.0007	0.0050	0.0338	0	0.0003	0.0137	0.0044	0.0060	0.0018	0.0032	0.0032	0.0035	0.0029	0.0041	0.0030	0.0029	0.0037	0.0036	0.0007	0	0.0036	0.0288	0	0	0.0102	0.0041	0.0071	0.0010	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997368	0.22689	N	2.365	0.68172	M	2.83	0.10771	T	-2.79	0.59059	D	0.616	0.63204	-1.0875	0.05960	T	0.049	0.21026	T	9	0.008849382	0.00200	T	.	.	.	0.156	0.40720	.	.	0.238705975628	0.23479	0.44365976478026536	0.44283	.	.	0.385409414768	0.23020	T	0.021439	0.16695	T	-0.456514	0.01033	T	-0.427023	0.30274	T	0.030507663835992	0.02067	T	0.439356	0.12115	T	0.22631073	0.45309	0.246806	0.50198	0.22631073	0.45309	0.246806	0.50197	-7.945	0.60694	D	.	.	0.201	0.42506	B	.	.	3.981063	0.58523	24.0	0.99785391619804342	0.87131	0.95332	0.64308	D	AEFBI	0.475758	0.51946	N	0.642509673075055	0.75883	6.385696	0.643250272920954	0.78111	6.810606	0.981287287864448	0.30242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.69	5.69	0.88346	2.942000	0.48711	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.338	0.54406	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014963	0.026596	0.009091	0.030702	0.000000	0.045455	0.000000	0.000000	0.05	679.43	34	chr13	45549921	.	T	C	679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-2.138;SOR=0.771	GT:AD:DP:GQ:PL	0/1:52,34:86:99:691,0,1221	9	0	1	0
chr13	45713547	45713547	-	CTGCGGGAGGAGAACAAGGCC	exonic	CBY2	.	nonframeshift insertion	CBY2:NM_001286341:exon2:c.441_442insCTGCGGGAGGAGAACAAGGCC:p.N159_R160insKALREEN,CBY2:NM_001286342:exon3:c.414_415insCTGCGGGAGGAGAACAAGGCC:p.N150_R151insKALREEN,CBY2:NM_152719:exon3:c.522_523insCTGCGGGAGGAGAACAAGGCC:p.N186_R187insKALREEN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1497.39	33	chr13	45713547	.	T	TCTGCGGGAGGAGAACAAGGCC	1497.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.144;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=-0.594;SOR=0.758	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1509,0,1796	9	0	1	0
chr13	52642567	52642567	A	-	exonic	HNRNPA1L2	.	frameshift deletion	HNRNPA1L2:NM_001011725:exon6:c.75delA:p.T26Lfs*5,HNRNPA1L2:NM_001011724:exon7:c.75delA:p.T26Lfs*5	.	461	1031	25	5	0	35	0.0166905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113	0.0101837	0.0059	0.0173	0.0032	0	0.0023	0.0030	0.0099	0.0173	0.0005763	15	26028	rs374312718	0.0037	0.0037	0.0032	0.0043	0.0189	0.0037	0.0036	0.0172	0.0168	0.0184	0.0036	0.0052	2.519e-05	0.0027	0.0189	0.0023	0.0051	0.0174	0.0074	0.0074	0.0073	0.0075	0.0171	0.0070	0.0069	0.0161	0.0157	0.0171	0	0.0052	0.0058	0	0.0018	0.0068	0.0031	0.0071	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018519	0.015625	0.030220	0.012931	0.000000	0.017544	0.011364	0.004098	0.05	517.39	35	chr13	52642566	.	CA	C	517.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.249;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.76;MQRankSum=2.08;QD=14.37;ReadPosRankSum=-1.047;SOR=0.724	GT:AD:DP:GQ:PL	0/1:19,17:36:99:529,0,602	9	0	1	0
chr13	52643274	52643274	A	G	exonic	HNRNPA1L2	.	nonsynonymous SNV	HNRNPA1L2:NM_001011725:exon6:c.A782G:p.N261S,HNRNPA1L2:NM_001011724:exon7:c.A782G:p.N261S	.	433	1058	27	4	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0077	.	0.0059	0.0162	0.0032	0	0.0023	0.0030	0.0107	0.0174	0.0013063	34	26028	rs342775	0.0037	0.0037	0.0032	0.0042	0.0179	0.0036	0.0036	0.0166	0.0163	0.0177	0.0036	0.0052	2.521e-05	0.0022	0.0179	0.0023	0.0051	0.0174	0.0073	0.0073	0.0072	0.0074	0.0167	0.0069	0.0068	0.0156	0.0152	0.0167	0	0.0052	0.0058	0	0.0018	0.0068	0.0032	0.0071	0.0145	0.034	0.44029	D	0.236	0.24694	T	0.707	0.42016	P	0.213	0.37437	B	.	.	.	.	0.993661	0.23670	N	1.635	0.41844	L	-2.2	0.86888	D	-2.85	0.60029	D	0.143	0.14338	-0.7107	0.59918	T	0.198	0.55286	T	9	0.006439775	0.00146	T	.	.	.	0.242	0.54781	.	.	0.515828161817	0.51224	0.8268350392294082	0.82641	.	.	0.648876965046	0.59827	T	0.02239	0.17269	T	-0.464508	0.00921	T	-0.426385	0.30345	T	0.0383935870855039	0.03402	T	0.779722	0.41422	T	0.047855284	0.08248	0.081999235	0.18680	0.047855284	0.08247	0.081999235	0.18679	-7.064	0.54500	T	.	.	0.064	0.01738	B	.	.	1.317504	0.17209	13.03	0.78058276187797782	0.12138	0.50040	0.28571	D	AEFBI	0.156216	0.28153	N	-0.436778897230713	0.24191	1.304441	-0.535110755619253	0.21202	1.145867	0.833319217850346	0.24732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	0.352	0.352	0.15287	2.062000	0.41039	0.322000	0.17195	0.198000	0.17903	1.000000	0.71638	0.116000	0.22850	0.676000	0.33425	0.9998:0.0:2.0E-4:0.0	5.098	0.14079	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017354	0.021053	0.029973	0.012295	0.000000	0.008621	0.003226	0.003937	0.05	340.43	34	chr13	52643274	.	A	G	340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.166;DP=293;ExcessHet=0;FS=5.322;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=47.04;MQRankSum=-1.066;QD=10.98;ReadPosRankSum=-0.1;SOR=0.468	GT:AD:DP:GQ:PL	0/1:18,13:31:99:352,0,562	9	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	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:76,44:120:99:198,0,979	0	0	10	0
chr13	77098932	77098932	G	A	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon56:c.C8222T:p.S2741L	.	.	.	.	.	.	.	.	.	.	.	3983165	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00339245504207	.	.	1.651e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs775162412	5.475e-06	5.472e-06	5.447e-06	5.502e-06	1.159e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	3.83e-05	0	0	0	5.397e-06	0	1.159e-05	1.973e-05	1.97e-05	0	4.04e-05	0.0004	5.25e-06	2.46e-06	6.828e-05	2.857e-05	0	0	0	0	0.0004	0	0	1.471e-05	0	0	0.119	0.28026	T	0.335	0.18286	T	.	.	.	.	.	.	0.000566	0.43250	D	0.205916	0.991507	0.41404	D	.	.	.	1.64	0.27822	T	-1.35	0.33598	N	0.244	0.27554	-1.0537	0.13386	T	0.109	0.39344	T	10	0.11342132	0.21307	T	0.003392	0.07603	T	0.045	0.12272	0.209	0.12639	0.147330786459	0.14319	.	.	0.255605690432	0.28147	0.361216515303	0.19563	T	.	.	.	-0.187307	0.22655	T	-0.50683	0.21641	T	0.48947861790657	0.32245	T	0.938306	0.76795	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.308745	0.45458	22.1	0.85976589793747682	0.16233	0.97924	0.78163	D	AEFBI	0.672001	0.63855	D	0.0308284943218417	0.43262	2.622546	0.24408528737571	0.52312	3.407037	0.999999999541139	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	6.288000	0.72696	8.722000	0.78164	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.540	0.95264	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1566.43	39	chr13	77098932	.	G	A	1566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=419;ExcessHet=0;FS=3.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=1.32;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,58:102:99:1578,0,1093	9	0	1	0
chr13	77185330	77185330	T	C	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon32:c.A4492G:p.I1498V	.	.	.	.	.	.	.	.	.	.	.	3210785	MYCBP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00379393	0.0014	0.0004	8.699e-05	0.0183	0	0	0.0011	0.0004	0.0013842	214	154602	rs76744435	0.0007	0.0007	0.0007	0.0007	0.0232	0.0007	0.0006	0.0220	0.0215	5.975e-05	2.236e-05	3.827e-05	0.0232	0	0	3.597e-06	0.0012	0.0002	0.0008	0.0008	0.0007	0.0010	0.0210	0.0007	0.0007	0.0178	0.0166	0.0001	0	0.0001	0	0.0210	0	0	2.94e-05	0.0009	0.0014	0.311	0.13971	T	0.626	0.07292	T	.	.	.	.	.	.	0.000234	0.47286	D	0.147601	0.849397	0.35196	D	.	.	.	1.47	0.31987	T	-0.36	0.13035	N	0.063	0.03502	-1.0652	0.10502	T	0.018	0.07329	T	10	0.0052241087	0.00114	T	.	.	.	0.054	0.15330	.	.	0.110392049598	0.10638	.	.	0.423955509883	0.42838	0.4918153584	0.37691	T	.	.	.	-0.530471	0.00382	T	-0.519166	0.20379	T	0.018535330674997	0.00569	T	0.910609	0.68297	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.090634	0.26594	17.17	0.95167370650197658	0.26320	0.89177	0.49486	D	AEFBI	0.227634	0.35142	N	-0.400019486620857	0.25469	1.382781	-0.156387174152619	0.33163	1.894193	0.999998452091283	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.65	4.44	0.53164	3.852000	0.55642	5.088000	0.47328	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1379:0.8621	12.690	0.56335	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	826.43	35	chr13	77185330	.	T	C	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=361;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=1.12;SOR=0.885	GT:AD:DP:GQ:PL	0/1:24,30:54:99:838,0,579	9	0	1	0
chr13	110457280	110457280	-	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGT	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.444_445insACAGGGCATGAGCCCCACGGACGCCTGGGGTCCCACGCAGAC:p.D148_A149insTGHEPHGRLGSHAD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1648.39	104	chr13	110457280	.	C	CGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGT	1648.39	.	AC=1;AF=0.05;AN=20;DP=848;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.36;QD=28.53;SOR=0.693	GT:AD:DP:GQ:PL	0/1:44,0:44:99:1660,0,1595	9	0	1	0
chr13	112068448	112068448	G	A	exonic	SOX1	.	nonsynonymous SNV	SOX1:NM_005986:exon1:c.G790A:p.G264S	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0010	0.00179712	0.0071	0	0.0109	0	.	0.0075	0	0.0076	0.0007115	110	154602	rs147042049	0.0025	0.0023	0.0023	0.0027	0.0079	0.0024	0.0024	0.0073	0.0071	0.0001	0.0029	0.0118	0	0.0004	0.0060	0.0021	0.0028	0.0079	0.0025	0.0025	0.0028	0.0022	0.0068	0.0023	0.0022	0.0049	0.0043	0.0006	0	0.0039	0.0136	0	0.0006	0.0070	0.0028	0.0040	0.0068	0.867	0.02625	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.10090	B	0.000326	0.45700	U	0.139620	0.807121	0.29045	N	-0.45	0.02807	N	-4.19	0.96908	D	1.32	0.00925	N	0.084	0.06059	-0.4489	0.70437	T	0.332	0.69935	T	10	0.007835627	0.00178	T	.	.	.	0.261	0.57352	.	.	0.528210255337	0.52467	0.6489449060296282	0.64830	.	.	0.885459065437	0.94683	D	0.094968	0.39524	T	-0.376152	0.03294	T	-0.308527	0.43817	T	0.0173541864254784	0.00474	T	0.819218	0.47714	T	0.07884808	0.17980	0.11499521	0.27759	0.07884808	0.17979	0.11499521	0.27758	-2.37	0.04952	T	.	.	0.087	0.11317	B	.	.	2.343329	0.30033	18.31	0.98033999826850471	0.37735	0.26088	0.22891	N	AEFDBCI	0.045882	0.07554	N	-0.790300316412739	0.13562	0.6690024	-0.645549209093007	0.18329	0.9786565	0.912394719801057	0.26394	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	2.44	1.56	0.22423	0.619000	0.24083	5.518000	0.48815	0.433000	0.20966	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.2475:0.0:0.7525:0.0	6.238	0.19983	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	0.007812	0.000000	0.009434	0.010417	0.000000	0.000000	0.000000	0.015625	0.05	542.43	35	chr13	112068448	.	G	A	542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.271;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.08;SOR=0.793	GT:AD:DP:GQ:PL	0/1:25,24:49:99:554,0,588	9	0	1	0
chr14	20243501	20243501	A	G	exonic	OR11H4	.	nonsynonymous SNV	OR11H4:NM_001004479:exon1:c.A710G:p.Q237R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00224637432916	.	.	8.257e-06	0	0	0	0	0	0	6.141e-05	6.5e-06	1	154602	rs751579658	6.842e-06	6.84e-06	6.808e-06	6.877e-06	0.0007	3.46e-06	2.52e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	9.938e-05	0	6.574e-06	6.568e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.260226	0.15329	N	0.579894	0.995841	0.23185	N	-0.67	0.02046	N	9.01	0.00020	T	0.69	0.02195	N	0.036	0.01068	-0.9655	0.38112	T	0.000	0.00039	T	10	0.0191935	0.00426	T	0.002246	0.04260	T	0.023	0.04649	0.42	0.46200	0.110078149338	0.10416	0.1062921839491818	0.10559	0.00403527943105	0.00354	0.187520682812	0.00184	T	1.1E-4	0.00013	T	-0.498781	0.00581	T	-0.853611	0.00915	T	0.0256916566653831	0.01365	T	0.172883	0.02681	T	0.058573473	0.11798	0.038940374	0.03875	0.058573473	0.11798	0.038940374	0.03875	-1.516	0.01797	T	.	.	0.050	0.00248	B	.;.;.	.;.;.	0.987458	0.13652	10.19	0.33963319966013078	0.02052	0.15541	0.18962	N	AEFBI	0.111550	0.22082	N	-1.3651380648975	0.02971	0.1320025	-1.18198516174762	0.06210	0.298227	0.00337850956424755	0.10082	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	-0.882	0.10066	-0.358000	0.07692	-2.056000	0.04279	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.5314:0.0:0.32:0.1486	4.173	0.09801	952	0.10565	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1167.43	34	chr14	20243501	.	A	G	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.313;DP=444;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.99;SOR=0.953	GT:AD:DP:GQ:PL	0/1:79,49:128:99:1179,0,2144	9	0	1	0
chr14	22843722	22843722	G	C	exonic	MMP14	.	nonsynonymous SNV	MMP14:NM_004995:exon6:c.G863C:p.G288A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0103835465966	.	.	8.298e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs138573365	2.781e-06	3.42e-06	2.767e-06	2.794e-06	2.784e-05	6.5e-07	4.4e-07	3e-07	1.1e-07	0	2.784e-05	0	2.533e-05	0	0	1.809e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.04482	T	0.984	0.02399	T	0.0	0.02946	B	0.002	0.06944	B	0.998659	0.07950	N	1.000540	0.999705	0.20638	N	1.265	0.31966	L	2.39	0.15724	T	-1.14	0.29323	N	0.065	0.03726	-1.0227	0.22834	T	0.025	0.10733	T	10	0.060550302	0.07454	T	0.010384	0.26850	T	0.047	0.12962	0.3	0.26683	0.309943084671	0.30607	0.4800450136557709	0.47924	0.160415957291	0.18098	0.332194298506	0.15266	T	0.081672	0.36652	T	-0.466958	0.00888	T	-0.682827	0.06812	T	0.0255256298251593	0.01342	T	0.283372	0.04986	T	0.09791368	0.23087	0.087502144	0.20343	0.09791368	0.23087	0.087502144	0.20342	-4.614	0.32347	T	0.24136243730428225	0.32694	0.091	0.12938	B	.	.	2.195868	0.27999	17.65	0.66776723702762308	0.08158	0.29239	0.23769	N	AEFDBI	0.180036	0.30733	N	-0.689577511624021	0.16317	0.8302693	-0.53184907622157	0.21290	1.151031	0.999994427106138	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	3.84	0.43422	1.062000	0.30164	1.287000	0.25388	0.676000	0.76740	0.685000	0.28485	0.803000	0.26967	0.818000	0.38543	0.0:0.3131:0.6869:0.0	13.733	0.62284	791	0.46100	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	913.43	43	chr14	22843722	.	G	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=2.16;SOR=0.739	GT:AD:DP:GQ:PL	0/1:81,44:125:99:925,0,1896	9	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	.	.	.	.	.	.	.	.	0.3125	404.66	126	chr14	24300437	.	G	C	404.66	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.58;DP=1123;ExcessHet=2.8389;FS=300.645;InbreedingCoeff=-0.4294;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.59;SOR=10.2	GT:AD:DP:GQ:PL	0/1:111,24:135:99:209,0,3516	3	0	5	2
chr14	35402838	35402838	G	A	exonic	NFKBIA	.	nonsynonymous SNV	NFKBIA:NM_020529:exon4:c.C569T:p.A190V	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1514483	Ectodermal_dysplasia_and_immunodeficiency_2	MONDO:MONDO:0012806,MedGen:C2677481,OMIM:612132,Orphanet:238468,Orphanet:98813	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.588	0.0568407870794	.	.	8.28e-06	9.768e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762771956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35165	T	0.108	0.39340	T	0.99	0.63424	D	0.611	0.51118	P	.	.	.	.	1	0.81001	D	3.13	0.88074	M	-0.48	0.86624	T	-2.73	0.58085	D	0.791	0.78737	0.410	0.89246	D	0.703	0.89771	D	9	0.8252135	0.81704	D	0.056841	0.66752	D	0.588	0.83526	0.761	0.88972	0.788136881447	0.78617	0.5042531426808894	0.50347	1.00777773327	0.74650	0.811534166336	0.83727	D	0.339903	0.70899	T	0.237	0.77396	D	0.102945	0.77102	D	0.952734164235456	0.63861	D	0.960104	0.84924	D	0.3966298	0.60498	0.38147318	0.63156	0.3966298	0.60499	0.38147318	0.63156	-11.849	0.84108	D	.	.	0.931	0.88388	P	.;.;.	.;.;.	4.965294	0.82135	27.7	0.99921648448150169	0.98787	0.95250	0.63996	D	AEFDBHCIJ	0.920131	0.89165	D	0.750973318430752	0.82969	7.895793	0.782016666846949	0.88515	9.611533	0.999999999999862	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.56214	0.19341	0	.	.	5.9	5.9	0.94952	7.730000	0.83827	11.914000	0.99653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.282	0.98522	496	0.76301	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|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	.	.	.	.	.	.	.	.	0.05	1368.43	111	chr14	35402838	.	G	A	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.536;DP=657;ExcessHet=0;FS=3.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.768;SOR=0.427	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1380,0,1350	9	0	1	0
chr14	61782355	61782355	A	G	exonic	SNAPC1	.	nonsynonymous SNV	SNAPC1:NM_003082:exon8:c.A934G:p.R312G	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0074	0.00678914	0.0085	0.0049	0.0089	0.0001	0.0195	0.0099	0.0155	0.0042	0.0084604	1308	154602	rs35009885	0.0094	0.0094	0.0095	0.0093	0.0100	0.0092	0.0092	0.0098	0.0098	0.0039	0.0072	0.0084	2.521e-05	0.0177	0.0059	0.0100	0.0085	0.0051	0.0087	0.0087	0.0086	0.0087	0.0107	0.0083	0.0081	0.0101	0.0098	0.0037	0.0329	0.0090	0.0086	0.0002	0.0168	0.0306	0.0107	0.0099	0.0062	0.389	0.10874	T	0.238	0.24549	T	0.001	0.07471	B	0.002	0.06944	B	0.838642	0.09051	N	0.939170	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.19	0.09965	N	0.12	0.11054	-1.0203	0.23616	T	0.017	0.06759	T	9	0.0026750267	0.00041	T	.	.	.	0.045	0.12272	.	.	0.235038932564	0.23097	0.1920275184929156	0.19120	0.0539500850569	0.05963	0.19598403573	0.00349	T	0.017665	0.14371	T	-0.536353	0.00352	T	-0.532823	0.19006	T	5.5351836635964e-05	0.00000	T	0.346065	0.07604	T	0.034874145	0.03998	0.031332042	0.01708	0.034874145	0.03998	0.031332042	0.01708	-3.502	0.16459	T	.	.	0.065	0.02038	B	.	.	0.255270	0.06340	2.804	0.79297047313545299	0.12678	0.02827	0.07567	N	AEFGBI	0.036618	0.04908	N	-1.17294088328176	0.05412	0.24668	-1.17007560572926	0.06414	0.3087125	0.962935445345104	0.28657	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.17	-2.35	0.06302	0.175000	0.16577	0.322000	0.17195	-0.040000	0.17491	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3547:0.1274:0.2846:0.2333	0.776	0.00966	742	0.52873	.	.	.	.	.	rs35009885	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.014946	0.002924	0.050000	0.008621	0.000000	0.000000	0.05	1084.43	33	chr14	61782355	.	A	G	1084.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.352;DP=390;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.441;SOR=1.28	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1096,0,730	9	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,29:111:99:0|1:64158707_T_C:338,0,2410:64158707	0	0	8	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1706.15	87	chr14	64158708	.	G	A	1706.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.709;DP=980;ExcessHet=2.8389;FS=221.069;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.08;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,29:111:99:0|1:64158707_T_C:338,0,2410:64158707	5	0	5	0
chr14	64220540	64220540	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.A488T:p.Q163L,SYNE2:NM_182913:exon6:c.A866T:p.Q289L,SYNE2:NM_015180:exon110:c.A19895T:p.Q6632L,SYNE2:NM_182914:exon111:c.A19964T:p.Q6655L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	265907	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|SYNE2-related_disorder|not_specified|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0522778576277	0.0020	0.00139776	0.0022	0.0006	0.0030	0	0.0005	0.0030	0.0022	0.0013	0.0022315	345	154602	rs149978500	0.0031	0.0031	0.0030	0.0031	0.0140	0.0030	0.0030	0.0116	0.0107	0.0005	0.0026	0.0056	0	0.0004	0.0140	0.0034	0.0035	0.0010	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0022	0.0061	0	0.0003	0.0102	0.0030	0.0014	0.0008	0.043	0.42199	D	0.043	0.50226	D	0.313	0.32852	B	0.216	0.40739	B	0.819387	0.09190	N	0.902853	0.999983	0.54805	D	2.5	0.72771	M	0.55	0.54728	T	-5.81	0.90023	D	0.378	0.47765	-0.8931	0.48659	T	0.176	0.51990	T	10	0.00549531	0.00121	T	0.052278	0.65005	D	0.075	0.21907	.	.	0.522717468363	0.51916	0.45877102385961166	0.45795	0.137024195531	0.15452	0.300396084785	0.10460	T	0.089375	0.64994	T	-0.422152	0.01658	T	-0.380325	0.35684	T	0.0586289400915562	0.06951	T	0.768523	0.40460	T	0.19553134	0.41346	0.23880059	0.49212	0.19553134	0.41345	0.23880059	0.49211	-6.461	0.50548	T	.	.	0.117	0.32054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.856687	0.12288	8.831	0.6130389617898947	0.06675	0.26272	0.22945	N	AEFDGBHCI	0.118171	0.23119	N	-0.571187478070026	0.19825	1.040569	-0.609017110530634	0.19261	1.032633	0.999996949742486	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	2.37	0.28337	0.720000	0.25566	1.050000	0.23629	0.756000	0.94297	0.059000	0.21734	0.019000	0.20708	0.023000	0.12082	0.6331:0.0:0.1289:0.2379	4.714	0.12267	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.008152	0.002924	0.000000	0.034483	0.000000	0.000000	0.05	1455.43	34	chr14	64220540	.	A	T	1455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.748;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.059;SOR=0.708	GT:AD:DP:GQ:PL	0/1:41,63:104:99:1467,0,944	9	0	1	0
chr14	65629568	65629568	C	A	exonic	FUT8	.	nonsynonymous SNV	FUT8:NM_004480:exon5:c.C70A:p.L24M,FUT8:NM_178156:exon5:c.C559A:p.L187M,FUT8:NM_001371533:exon6:c.C559A:p.L187M,FUT8:NM_178155:exon6:c.C559A:p.L187M,FUT8:NM_001371534:exon7:c.C559A:p.L187M,FUT8:NM_001371536:exon7:c.C661A:p.L221M	.	422	1098	2	0	0	2	0.000909918	.	.	.	1422139	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.353	0.0673136587644	7.7e-05	0.000199681	0.0001	0	0.0002	0	0	2.997e-05	0.0011	0.0005	9.06e-05	14	154602	rs376707676	6.979e-05	6.977e-05	3.268e-05	0.0001	0.0009	5.848e-05	5.458e-05	0.0007	0.0007	0	0.0002	0	0	0	0.0002	8.096e-06	8.28e-05	0.0009	7.884e-05	7.875e-05	6.428e-05	9.405e-05	0.0015	4.496e-05	3.512e-05	0.0007	0.0005	0	0	6.543e-05	0	0	0	0	5.882e-05	0	0.0015	0.004	0.65419	D	0.009	0.66756	D	0.997	0.70673	D	0.999	0.92359	D	0.000006	0.62929	D	0.064980	1	0.81001	D	3.205	0.89189	M	0.61	0.53516	T	-1.53	0.37178	N	0.85	0.84817	-0.4487	0.70443	T	0.299	0.66998	T	10	0.5177108	0.62462	D	0.067314	0.70130	D	0.353	0.67418	.	.	0.605234513481	0.60207	0.6323158723869083	0.63165	1.55586283606	0.87969	0.772872507572	0.77854	T	0.531018	0.83771	D	-0.188663	0.22454	T	-0.132933	0.60724	T	0.580810010433197	0.35649	D	0.950605	0.81072	D	0.54139656	0.69474	0.21180226	0.45624	0.54139656	0.69475	0.21180226	0.45623	-7.943	0.64211	D	0.7399675953781435	0.82200	0.345	0.65109	A	.;.;.;.	.;.;.;.	4.247693	0.64452	24.7	0.99687809161750485	0.79708	0.93247	0.57710	D	AEFGBI	0.597466	0.59124	D	0.656870605763829	0.76816	6.556403	0.583143817344377	0.73733	6.018827	0.100691467084531	0.16360	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.32	4.43	0.52967	2.939000	0.48687	4.054000	0.41532	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8228:0.0:0.1772	8.481	0.32203	778	0.48011	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	776.43	35	chr14	65629568	.	C	A	776.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.745;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.458;SOR=0.65	GT:AD:DP:GQ:PL	0/1:34,33:67:99:788,0,898	9	0	1	0
chr14	69328510	69328510	T	C	exonic	GALNT16	.	nonsynonymous SNV	GALNT16:NM_001168368:exon6:c.T629C:p.L210P,GALNT16:NM_020692:exon6:c.T629C:p.L210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.267366769986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000083	0.51296	D	0.079672	1	0.81001	D	4.205	0.97843	H	-0.44	0.69777	T	-6.47	0.91479	D	0.987	0.99548	0.680	0.92926	D	0.664	0.88347	D	10	0.9647329	0.95935	D	0.267367	0.89745	D	0.804	0.93621	0.816	0.93060	0.694656268378	0.69202	0.9751610198861174	0.97506	1.44904736646	0.86117	0.747335731983	0.74054	T	0.482356	0.81054	T	0.356632	0.86993	D	0.275	0.86824	D	0.997934460639954	0.92797	D	0.836316	0.51656	T	0.9594339	0.97223	0.93077844	0.97148	0.9594339	0.97224	0.93077844	0.97149	-16.307	0.98185	D	.	.	0.999	0.98268	P	.;.;.	.;.;.	5.099999	0.85214	28.5	0.99843109237915306	0.92316	0.96166	0.67836	D	AEFGBI	0.933087	0.92444	D	0.806427544532338	0.86506	8.907573	0.651882694859073	0.78750	6.939731	0.999999934014124	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.39	5.39	0.77615	5.918000	0.69728	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.0:0.0:0.0:1.0	15.07	0.71695	824	0.40336	Glycosyltransferase 2-like;Glycosyltransferase 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	903.43	35	chr14	69328510	.	T	C	903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.023;DP=437;ExcessHet=0;FS=3.735;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-1.859;SOR=0.664	GT:AD:DP:GQ:PL	0/1:54,45:99:99:915,0,1337	9	0	1	0
chr14	73264230	73264230	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon20:c.G2833A:p.G945R,PAPLN:NM_173462:exon20:c.G2800A:p.G934R,PAPLN:NM_001365906:exon21:c.G2881A:p.G961R	.	.	.	.	.	.	.	.	.	.	.	2754340	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.328	0.0644642279156	0.0002	.	0.0002	0.0002	0	0.0001	0.0003	0.0003	0	0	0.0001811	28	154602	rs374197764	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	2.237e-05	0	0.0002	0.0002	0.0005	0.0002	0.0002	0	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0004	0	0	0	0.0008	0.0002	0	0.0003	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.883118	0.35792	D	2.625	0.76847	M	1.26	0.36330	T	-5.27	0.84175	D	0.502	0.53445	-0.5957	0.64992	T	0.204	0.56155	T	9	0.50378674	0.61700	D	0.064464	0.69284	D	0.328	0.65026	0.812	0.92788	0.409665357357	0.40584	0.5635705378412466	0.56284	0.621969221357	0.56478	0.395083904266	0.24383	T	0.049736	0.28393	T	-0.115582	0.33847	T	-0.106243	0.62910	T	0.77330082654953	0.44638	D	0.833317	0.50212	T	0.3324012	0.55666	0.39735535	0.64353	0.3324012	0.55666	0.39735535	0.64353	-8.999	0.68210	D	.	.	0.217	0.51271	B	.;.;.;.	.;.;.;.	4.913374	0.80858	27.4	0.99862202903316233	0.94093	0.74855	0.36629	D	AEFDGBCI	0.346498	0.44129	N	0.519204389792956	0.68226	5.188094	0.405691302898321	0.61919	4.398952	0.999999967667024	0.74766	0.718356	0.82227	0	0.694456	0.67091	0	0.570548	0.19454	0	0.592323	0.36904	0	.	.	4.32	4.32	0.50899	3.065000	0.49687	9.864000	0.82078	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.059000	0.15899	0.1418:0.0:0.8582:0.0	8.682	0.33375	747	0.52260	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	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	0.05	1167.43	65	chr14	73264230	.	G	A	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.326;SOR=0.693	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1179,0,1007	9	0	1	0
chr14	75004839	75004839	A	G	exonic	EIF2B2	.	nonsynonymous SNV	EIF2B2:NM_014239:exon4:c.A536G:p.K179R	Leukoencephalopathy with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0374017999425	.	.	1.664e-05	0	0	0	0	0	0.0011	6.079e-05	1.29e-05	2	154602	rs757027574	1.437e-05	1.437e-05	1.225e-05	1.651e-05	0.0002	9.23e-06	7.84e-06	8.52e-06	6.89e-06	0	2.236e-05	0	0	0	0.0002	1.439e-05	1.656e-05	2.319e-05	6.597e-06	6.569e-06	1.289e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.255	0.16848	T	0.249	0.23776	T	0.002	0.09854	B	0.032	0.22131	B	0.001247	0.39669	N	0.327366	0.920044	0.36650	D	1.615	0.41426	L	-3.72	0.95422	D	-2.15	0.48687	N	0.08	0.05542	-0.6517	0.62640	T	0.611	0.86241	D	10	0.2274476	0.39625	T	0.037402	0.57597	D	0.228	0.52768	0.458	0.52427	0.891472136315	0.89040	0.6239664528787012	0.62329	0.373390277131	0.38803	0.344283461571	0.17077	T	0.562315	0.85369	D	-0.0471568	0.44877	T	-0.204884	0.54183	T	0.111468128859997	0.13575	T	0.740726	0.35986	T	0.14253852	0.32799	0.17232497	0.39479	0.14253852	0.32798	0.17232497	0.39478	-5.279	0.39734	T	0.2300625313767266	0.31125	0.083	0.09288	B	.	.	1.227394	0.16217	12.40	0.90822256308384464	0.20071	0.82814	0.41992	D	AEFBI	0.235228	0.35786	N	-1.17840075786356	0.05327	0.2425872	-1.19132156321098	0.06054	0.290261	0.999999991913733	0.74766	0.706298	0.61202	0	0.581341	0.33841	0	0.709663	0.75317	0	0.638787	0.57140	0	.	.	5.52	-8.17	0.00930	1.315000	0.33214	-0.498000	0.08819	-0.054000	0.16847	1.000000	0.71638	0.000000	0.08366	0.973000	0.55318	0.4397:0.0:0.4648:0.0954	10.083	0.41576	582	0.69555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1172.43	39	chr14	75004839	.	A	G	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.959;DP=437;ExcessHet=0;FS=1.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.9;SOR=0.876	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1184,0,947	9	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019289	0.000000	0.020380	0.041176	0.000000	0.025862	0.009259	0.011364	0.1	1324.14	20	chr14	75437912	.	C	A	1324.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.025;DP=267;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=-0.279;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,16:28:99:0|1:75437911_T_C:629,0,456:75437911	8	0	2	0
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5098.24	24	chr14	77027448	.	CTGT	*	5098.24	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.486;DP=360;ExcessHet=5.1594;FS=4.025;InbreedingCoeff=-0.4141;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.127;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,14:36:99:.:.:296,0,531:.	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:22,14:36:99:296,0,531	0	2	7	1
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	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:93,50:154:99:196,0,1349	3	0	7	0
chr14	92577441	92577441	G	A	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon2:c.G106A:p.E36K,RIN3:NM_024832:exon3:c.G331A:p.E111K	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0004	0.0223642	0.0117	0.0002	0.0092	0.0799	0.0153	0.0010	0.0099	0.0270	0.0108666	1680	154602	rs2274542	0.0051	0.0052	0.0045	0.0058	0.0850	0.0050	0.0050	0.0826	0.0816	0.0003	0.0102	0.0031	0.0850	0.0114	0.0021	0.0003	0.0066	0.0266	0.0062	0.0062	0.0042	0.0082	0.0753	0.0058	0.0057	0.0691	0.0667	0.0002	0	0.0120	0.0037	0.0753	0.0148	0	0.0005	0.0028	0.0299	0.31	0.14017	T	0.224	0.25591	T	0.013	0.16609	B	0.002	0.06944	B	0.093875	0.20202	N	0.355351	1	0.08975	N	1.785	0.46417	L	1.67	0.27331	T	-1.43	0.35194	N	0.176	0.18920	-1.0766	0.08023	T	0.004	0.01192	T	10	0.0025177598	0.00038	T	.	.	.	0.012	0.01476	.	.	.	.	0.2621540740242127	0.26128	0.297130463157	0.32095	0.437524139881	0.30239	T	0.003608	0.19564	T	-0.58772	0.00173	T	-0.550189	0.17309	T	0.00291769105242811	0.00030	T	0.820318	0.47908	T	0.029630367	0.02490	0.04870109	0.07290	0.029630367	0.02489	0.04870109	0.07289	-6.256	0.48373	T	.	.	0.078	0.11461	B	.;.	.;.	1.334084	0.17395	13.14	0.9670162321042387	0.30777	0.14014	0.18176	N	ALL	0.068226	0.13449	N	-0.70204353236434	0.15963	0.8092279	-0.7289887455085	0.16241	0.8581969	0.999999999984839	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.91	3.08	0.34576	0.751000	0.26013	0.759000	0.21299	0.676000	0.76740	0.249000	0.24839	0.118000	0.22871	0.016000	0.10718	0.1893:0.0:0.8107:0.0	8.074	0.29869	675	0.60470	SH2 domain|SH2 domain|Ras and Rab interactor 3, SH2 domain;SH2 domain|SH2 domain|Ras and Rab interactor 3, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.05	1659.43	34	chr14	92577441	.	G	A	1659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.279;DP=440;ExcessHet=0;FS=2.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.99;SOR=0.925	GT:AD:DP:GQ:PL	0/1:51,71:122:99:1671,0,1055	9	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	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,41:104:99:.:.:371,0,966:.	0	0	10	0
chr14	102930661	102930661	-	GGCCGA	exonic	AMN	.	stoploss	AMN:NM_030943:exon12:c.1343_1344insGGCCGA:p.*454delinsEA*	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	0	1519	1	0	2	3	0.000329056	.	.	.	688244	Imerslund-Grasbeck_syndrome	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0003	0.0003	0	0	0.0008	0	0.0002	3.84e-05	1	26028	rs763564473	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0002	0.0007	0.0005	0.0002	0.0002	0.0039	0	1.997e-05	0.0015	0.0002	0.0006	0.0004	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	0.0001	0.0001	0	0.0003	0.0026	0	0	0.0034	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	409.39	60	chr14	102930661	.	G	GGGCCGA	409.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.152;DP=515;ExcessHet=0;FS=6.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.822;SOR=0.132	GT:AD:DP:GQ:PL	0/1:27,12:39:99:421,0,1082	9	0	1	0
chr14	103127397	103127397	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon3:c.G628A:p.A210T,TNFAIP2:NM_001371221:exon3:c.G628A:p.A210T,TNFAIP2:NM_006291:exon3:c.G628A:p.A210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0144292925837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.896	0.02448	T	0.189	0.28575	T	0.017	0.17573	B	0.002	0.06944	B	0.995122	0.07928	N	1.002150	0.999998	0.08975	N	0.55	0.14455	N	3.25	0.06762	T	-0.28	0.11547	N	0.024	0.00445	-0.8878	0.49122	T	0.008	0.02842	T	10	0.045698076	0.03670	T	0.014429	0.34542	T	0.029	0.06676	0.529	0.63560	0.262662153117	0.25859	0.1312081441457143	0.13045	0.284083675764	0.30837	0.734533667564	0.72169	T	0.052113	0.29070	T	-0.426009	0.01567	T	-0.849709	0.00963	T	0.0674309937454317	0.08286	T	0.454055	0.12934	T	0.061948456	0.12884	0.046804074	0.06605	0.061948456	0.12884	0.046804074	0.06604	-5.222	0.39165	T	.	.	0.075	0.05668	B	.;.	.;.	0.473340	0.08429	5.186	0.91746114212185936	0.21045	0.06794	0.12817	N	AEFDBCI	0.067557	0.13287	N	-1.93389052314483	0.00292	0.01254013	-1.92380449782973	0.00439	0.01942424	0.999999423891318	0.74766	0.72623	0.87236	0	0.709663	0.81188	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.61	-2.08	0.06852	-1.823000	0.01804	-0.114000	0.11796	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.1997:0.287:0.3778:0.1355	2.001	0.03256	636	0.64483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	516.43	33	chr14	103127397	.	G	A	516.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=343;ExcessHet=0;FS=4.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.573;SOR=1.781	GT:AD:DP:GQ:PL	0/1:12,18:30:99:528,0,249	9	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	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	.	.	.	.	.	.	.	.	0.1	1421.14	294	chr14	104944175	.	G	A	1421.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.27;DP=2826;ExcessHet=0.2348;FS=24.688;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.77;MQRankSum=-16.74;QD=1.79;ReadPosRankSum=-2.156;SOR=3.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,28:333:99:0|1:104944080_G_A:258,0,12723:104944080	8	0	2	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	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	.	.	.	.	.	.	.	.	0.1	1160.14	294	chr14	104944178	.	G	C	1160.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=6.3;DP=2808;ExcessHet=0.2348;FS=24.572;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.78;MQRankSum=-16.36;QD=1.5;ReadPosRankSum=-2.416;SOR=3.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,26:322:99:0|1:104944080_G_A:201,0,12351:104944080	8	0	2	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V,AHNAK2:NM_138420:exon7:c.C11264T:p.A3755V	.	432	1078	12	0	0	12	0.00553506	.	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	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	0.001067	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.1	627.14	294	chr14	104944187	.	G	A	627.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.84;DP=2761;ExcessHet=0.2348;FS=36.254;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.83;MQRankSum=-15.93;QD=0.86;ReadPosRankSum=-4.47;SOR=4.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,25:308:99:0|1:104944080_G_A:198,0,11808:104944080	8	0	2	0
chr14	104948957	104948957	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6194C:p.V2065A,AHNAK2:NM_138420:exon7:c.T6494C:p.V2165A	.	545	964	10	3	0	16	0.00823045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0041	0.00339457	0.0024	0.0102	0.0022	0.0005	0.0002	0.0011	0.0054	0.0034	0.0017141	265	154602	rs199574745	0.0014	0.0014	0.0014	0.0014	0.0152	0.0013	0.0013	0.0121	0.0116	0.0130	0.0025	0.0041	0.0008	0.0005	0.0152	0.0006	0.0027	0.0035	0.0047	0.0049	0.0050	0.0044	0.0108	0.0044	0.0043	0.0100	0.0096	0.0108	0	0.0027	0.0036	0.0006	0.0003	0	0.0015	0.0067	0.0039	0.184	0.21634	T	0.318	0.19246	T	0.997	0.70673	D	0.983	0.75793	D	.	.	.	.	1	0.08975	N	1.9	0.50570	L	5.46	0.00959	T	-0.92	0.24676	N	0.035	0.01004	-0.9392	0.42743	T	0.006	0.01981	T	9	0.00725919	0.00165	T	.	.	.	0.022	0.04323	.	.	0.0401082797425	0.02173	0.004772544787741951	0.00449	.	.	0.223785355687	0.01539	T	0.021497	0.16731	T	-0.64341	0.00079	T	-0.689741	0.06404	T	0.015071904004802	0.00326	T	0.424058	0.11326	T	0.033221856	0.03500	0.03668754	0.03167	0.033221856	0.03499	0.03668754	0.03166	-8.191	0.62365	D	.	.	0.156	0.34580	B	.	.	1.078716	0.14613	11.18	0.7966226950072457	0.12843	0.03035	0.07922	N	AEFBI	.	.	.	-0.44233191117111	0.24000	1.292891	-0.690501736016245	0.17198	0.9133596	1.72976005002649E-4	0.05786	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	0.595	0.16672	0.690000	0.25132	-2.018000	0.04337	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6102:0.1463:0.2435:0.0	5.517	0.16203	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	0.013642	0.006494	0.002833	0.050000	0.000000	0.027778	0.003759	0.026316	0.05556	3059.45	21	chr14	104948957	.	A	G	3059.45	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.38;DP=1800;ExcessHet=0;FS=6.53;InbreedingCoeff=0.1805;MLEAC=1;MLEAF=0.056;MQ=58.35;MQRankSum=-3.304;QD=9.08;ReadPosRankSum=-3.558;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,92:337:99:0|1:104948957_A_G:3070,0,9936:104948957	8	0	1	1
chr14	104948961	104948961	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6190A:p.G2064R,AHNAK2:NM_138420:exon7:c.G6490A:p.G2164R	.	681	829	8	4	0	16	0.00955795	.	.	.	2340032	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.00414373534812	0.0006	0.000399361	0.0007	0.0014	0.0006	0	0	0.0004	0.0013	0.0020	7.68e-05	2	26028	rs200342474	0.0004	0.0004	0.0003	0.0005	0.0044	0.0004	0.0003	0.0028	0.0023	0.0010	0.0005	0	2.539e-05	0	0.0044	0.0002	0.0006	0.0020	0.0006	0.0008	0.0007	0.0006	0.0018	0.0005	0.0005	0.0008	0.0006	0.0009	0	0.0012	0	0	0	0	0.0003	0.0020	0.0018	0.533	0.06957	T	0.04	0.50809	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.24005	N	2.36	0.67893	M	4.13	0.02865	T	-2.17	0.49018	N	0.219	0.24510	-1.0797	0.07407	T	0.045	0.19518	T	9	0.011158854	0.00245	T	0.004144	0.09931	T	0.099	0.28413	0.324	0.30549	0.250039746154	0.24611	0.005355624157952884	0.00506	.	.	0.248388916254	0.03600	T	0.093677	0.39260	T	-0.517502	0.00455	T	-0.573907	0.15093	T	0.0503001138567924	0.05553	T	0.779622	0.41374	T	0.086888	0.20213	0.18191162	0.41084	0.086888	0.20213	0.18191162	0.41083	-8.662	0.65497	D	.	.	0.148	0.32637	B	.	.	2.571896	0.33327	19.31	0.98585054737644706	0.43297	0.02122	0.06269	N	AEFBI	.	.	.	0.0907639512908889	0.46032	2.850016	-0.148872753103853	0.33451	1.91366	0.00284535610033142	0.09746	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	4.35	0.51454	0.535000	0.22822	-11.662000	0.00586	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8349:0.1651:0.0	12.784	0.56875	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003567	0.000000	0.001420	0.009346	0.000000	0.000000	0.000000	0.013158	0.07143	3030.65	19	chr14	104948961	.	C	T	3030.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=1789;ExcessHet=0;FS=7.537;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-3.359;QD=8.99;ReadPosRankSum=-4.415;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,91:337:99:0|1:104948957_A_G:3040,0,10029:104948957	6	0	1	3
chr14	104948963	104948963	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6188A:p.F2063Y,AHNAK2:NM_138420:exon7:c.T6488A:p.F2163Y	.	680	830	8	4	0	16	0.00954654	.	.	.	2340030	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.00423400417451	.	0.000399361	0.0006	0.0005	0.0006	0	0	0.0004	0.0013	0.0019	7.68e-05	2	26028	rs558985278	0.0003	0.0004	0.0003	0.0004	0.0044	0.0003	0.0003	0.0028	0.0023	6.105e-05	0.0005	0	2.54e-05	0	0.0044	0.0002	0.0006	0.0019	0.0004	0.0005	0.0003	0.0005	0.0018	0.0003	0.0003	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0	0.0003	0.0014	0.0018	0.125	0.27310	T	0.014	0.62352	D	0.995	0.67487	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.61	0.76335	M	4.7	0.01673	T	-1.48	0.36189	N	0.282	0.31925	-1.0859	0.06245	T	0.035	0.14857	T	9	0.015946686	0.00335	T	0.004234	0.10216	T	0.160	0.41473	.	.	0.0666544352282	0.05500	0.00412412185900262	0.00387	.	.	0.304902017117	0.11135	T	0.092826	0.39085	T	-0.345376	0.05025	T	-0.497217	0.22636	T	0.0728509215486033	0.09046	T	0.549445	0.18903	T	0.15074746	0.34303	0.14362918	0.34127	0.15074746	0.34302	0.14362918	0.34126	-11.076	0.80073	D	.	.	0.275	0.50898	B	.	.	3.219894	0.43869	21.8	0.95443313603458479	0.26952	0.81626	0.40992	D	AEFBI	.	.	.	0.30677126144156	0.56495	3.814335	0.094457377813433	0.44269	2.711977	0.999337509708066	0.39185	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	4.35	0.51454	5.031000	0.63918	1.832000	0.29123	0.660000	0.55035	0.970000	0.34288	0.001000	0.17328	0.002000	0.04165	1.0:0.0:0.0:0.0	13.585	0.61389	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002969	0.000000	0.001420	0.004630	0.000000	0.000000	0.000000	0.013274	0.07143	2993.65	.	chr14	104948963	.	A	T	2993.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.427;DP=1639;ExcessHet=0;FS=6.656;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-3.412;QD=8.99;ReadPosRankSum=-4.585;SOR=1.059	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,89:333:99:0|1:104948957_A_G:3003,0,9978:104948957	6	0	1	3
chr14	104949437	104949437	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5714A:p.R1905K,AHNAK2:NM_138420:exon7:c.G6014A:p.R2005K	.	443	1064	15	0	0	15	0.00699953	.	.	.	2807483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	.	0.00519169	0.0027	0.0039	0.0013	0.0013	0.0121	0.0015	0.0068	0.0049	0.0023868	369	154602	rs201724743	0.0015	0.0018	0.0014	0.0016	0.0045	0.0014	0.0014	0.0041	0.0040	0.0039	0.0011	0.0024	0.0007	0.0136	0.0019	0.0006	0.0022	0.0045	0.0033	0.0048	0.0029	0.0037	0.0080	0.0030	0.0029	0.0059	0.0052	0.0049	0	0.0012	0.0024	0.0019	0.0141	0	0.0011	0.0010	0.0080	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	-2.425	0.00069	N	5.56	0.00864	T	0.9	0.01618	N	0.055	0.02658	-0.9435	0.42057	T	0.001	0.00222	T	9	0.0056378245	0.00125	T	.	.	.	0.072	0.21020	.	.	0.0138822411134	0.00435	0.013107380770452471	0.01268	.	.	0.247352719307	0.03494	T	0.016235	0.13458	T	-0.692671	0.00040	T	-0.766935	0.02870	T	0.00296917531338819	0.00031	T	0.356864	0.08118	T	0.022871908	0.00981	0.038770977	0.03821	0.022871908	0.00981	0.038770977	0.03820	2.446	0.00035	T	.	.	0.056	0.00505	B	.	.	-0.176059	0.03215	0.535	0.41923522000302094	0.03056	0.00269	0.01464	N	AEFBI	.	.	.	-1.69253864397875	0.00869	0.03758364	-1.54671633278708	0.01998	0.0913044	2.19621052287939E-4	0.05997	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	2.57	0.29928	0.265000	0.18282	-4.016000	0.02392	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.1777:0.1542:0.6681	5.046	0.13823	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	0	0	1	0	0.001654	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007752	0.05	1069.43	311	chr14	104949437	.	C	T	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.89;DP=2397;ExcessHet=0;FS=27.005;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.48;MQRankSum=-12.99;QD=4.77;ReadPosRankSum=-4.381;SOR=2.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,39:224:99:0|1:104949437_C_T:1081,0,7621:104949437	9	0	1	0
chr14	104949452	104949452	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5699C:p.V1900A,AHNAK2:NM_138420:exon7:c.T5999C:p.V2000A	.	440	1074	8	0	0	8	0.00371058	.	.	.	2340029	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00167314473668	.	.	1.679e-05	0	8.964e-05	0	0	0	0	6.11e-05	1.29e-05	2	154602	rs760905325	0.0001	0.0002	7.32e-05	0.0002	0.0007	0.0001	0.0001	0.0006	0.0005	3.004e-05	0.0002	0	0	0	0.0007	7.567e-05	0.0003	0.0007	0.0001	0.0003	0.0001	0.0002	0.0009	9.639e-05	8.035e-05	0.0003	0.0002	0.0001	0	0.0004	0	0	0	0	9.149e-05	0.0005	0.0009	0.164	0.23360	T	0.144	0.33109	T	0.897	0.49385	P	0.718	0.54779	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	4.72	0.01636	T	-1.2	0.30555	N	0.053	0.02462	-0.9989	0.30227	T	0.009	0.03096	T	9	0.06246966	0.07993	T	0.001673	0.02753	T	0.073	0.21317	.	.	0.0138822411134	0.00435	0.009330454232338779	0.00896	.	.	0.21526452899	0.01054	T	0.020204	0.15948	T	-0.548641	0.00297	T	-0.746426	0.03627	T	0.122140422463417	0.14637	T	0.475152	0.14192	T	0.016664438	0.00213	0.026208676	0.00698	0.016664438	0.00213	0.026208676	0.00698	-8.18	0.62290	D	.	.	0.225	0.45653	B	.	.	0.875312	0.12483	9.015	0.58557647110772948	0.06020	0.04720	0.10414	N	AEFBI	.	.	.	-0.84147920516023	0.12259	0.5965317	-1.10150230626559	0.07672	0.3740869	6.21318167841116E-4	0.07482	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	-3.98	0.03810	0.355000	0.19902	-11.216000	0.00624	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4926:0.142:0.2277:0.1377	1.235	0.01833	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	.	.	.	.	.	.	.	.	0.05	1866.43	311	chr14	104949452	.	A	G	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=2431;ExcessHet=0;FS=12.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.01;MQRankSum=-12.74;QD=7.23;ReadPosRankSum=-3.154;SOR=1.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,59:258:99:0|1:104949437_C_T:1878,0,8178:104949437	9	0	1	0
chr14	104949456	104949456	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5695A:p.G1899R,AHNAK2:NM_138420:exon7:c.G5995A:p.G1999R	.	439	1075	8	0	0	8	0.00370714	.	.	.	2340028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.00616331336328	0.0004	0.000399361	0.0002	0.0010	0.0004	0.0001	0	4.554e-05	0	0.0001	0.0001423	22	154602	rs199942947	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	0.0002	0.0007	0	5.043e-05	0	0.0012	0.0001	0.0005	0.0009	0.0005	0.0006	0.0004	0.0006	0.0015	0.0004	0.0003	0.0007	0.0006	0.0009	0	0.0008	0	0.0002	0	0	0.0002	0.0015	0.0015	0.164	0.23360	T	0.076	0.42614	T	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	1	0.81001	D	2.165	0.60562	M	4.13	0.02865	T	-1.5	0.36586	N	0.13	0.12484	-1.0507	0.14203	T	0.038	0.16548	T	9	0.024904132	0.00702	T	0.006163	0.16141	T	0.139	0.37390	0.334	0.32167	0.16115917748	0.15686	0.009685292477354841	0.00930	.	.	0.21096944809	0.00853	T	0.096745	0.39886	T	-0.544254	0.00316	T	-0.638832	0.09754	T	0.0292172214080147	0.01870	T	0.69773	0.30785	T	0.03328945	0.03517	0.07493478	0.16445	0.03328945	0.03517	0.07493478	0.16444	-9.516	0.70958	D	.	.	0.162	0.35746	B	.	.	2.142550	0.27281	17.41	0.9864386936597701	0.44096	0.10928	0.16290	N	AEFBI	.	.	.	-0.332304795630134	0.27927	1.536236	-0.60434216691576	0.19381	1.039587	0.698608198005806	0.22670	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	2.83	0.32150	-0.057000	0.11726	-20.000000	0.00162	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9082:0.0:0.0918	11.288	0.48469	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1925.43	311	chr14	104949456	.	C	T	1925.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.1;DP=2443;ExcessHet=0;FS=10.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.12;MQRankSum=-12.83;QD=7.13;ReadPosRankSum=-2.377;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,62:270:99:0|1:104949437_C_T:1937,0,8502:104949437	9	0	1	0
chr14	104949458	104949458	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5693A:p.F1898Y,AHNAK2:NM_138420:exon7:c.T5993A:p.F1998Y	.	435	1079	8	0	0	8	0.00369344	.	.	.	2340027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.164	0.00614670573348	.	.	8.396e-06	0	0	0	0	0	0	6.11e-05	3.84e-05	1	26028	rs753186701	0.0001	0.0001	9.254e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	0	0.0003	0	2.521e-05	0	0.0007	8.479e-05	0.0002	0.0009	0.0002	0.0003	0.0001	0.0002	0.0011	0.0001	9.607e-05	0.0004	0.0003	0.0001	0	0.0003	0	0	0	0	0.0001	0.0005	0.0011	0.032	0.44694	D	0.027	0.55341	D	0.993	0.65571	D	0.898	0.63708	P	.	.	.	.	0.999999	0.58761	D	2.69	0.78713	M	4.7	0.01673	T	-1.65	0.39503	N	0.279	0.31590	-0.9828	0.34351	T	0.028	0.11882	T	9	0.12285593	0.23312	T	0.006147	0.16111	T	0.164	0.42212	.	.	0.0482279557977	0.04254	0.007504153412849306	0.00716	.	.	0.277836799622	0.07193	T	0.107512	0.41978	T	-0.345939	0.04988	T	-0.438502	0.28976	T	0.193708041430183	0.20061	T	0.637636	0.25136	T	0.14385247	0.33045	0.12094333	0.29184	0.14385247	0.33044	0.12094333	0.29183	-11.636	0.83033	D	.	.	0.337	0.55713	B	.	.	3.034995	0.40672	21.2	0.95442750460372017	0.26950	0.92142	0.55038	D	AEFBI	.	.	.	0.163399242299377	0.49447	3.145105	-0.0490517326808528	0.37531	2.198766	0.0768603047912893	0.15741	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	3.72	0.41857	1.781000	0.38274	1.131000	0.24326	0.689000	0.82905	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	1.0:0.0:0.0:0.0	12.460	0.55065	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1925.43	311	chr14	104949458	.	A	T	1925.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=2454;ExcessHet=0;FS=10.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.23;MQRankSum=-12.83;QD=7.13;ReadPosRankSum=-2.018;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,62:270:99:0|1:104949437_C_T:1937,0,8502:104949437	9	0	1	0
chr15	20534636	20534636	C	0	exonic	GOLGA6L6	.	.	.	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	140.44	26	chr15	20534636	.	C	*	140.44	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=6;MLEAF=0.3;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	4	0	6	0
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	439.07	23	chr15	20534647	.	C	*	439.07	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.7;DP=659;ExcessHet=2.8389;FS=2.002;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=54.15;MQRankSum=-0.327;QD=1.44;ReadPosRankSum=-1.348;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	6	0	4	0
chr15	20534648	20534648	G	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	46.66	22	chr15	20534648	.	G	*	46.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.85;DP=628;ExcessHet=2.8389;FS=1.057;InbreedingCoeff=-0.3798;MLEAC=4;MLEAF=0.222;MQ=52.47;MQRankSum=-0.616;QD=0.15;ReadPosRankSum=-1.461;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	5	0	4	1
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	325.26	19	chr15	20534663	.	G	*	325.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.61;DP=602;ExcessHet=2.8389;FS=4.134;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=1.19;QD=1.05;ReadPosRankSum=-3.135;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	6	0	4	0
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	294.26	18	chr15	20534667	.	C	*	294.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=3.06;DP=595;ExcessHet=2.8389;FS=4.186;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.27;MQRankSum=0.972;QD=0.95;ReadPosRankSum=-3.043;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	6	0	4	0
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	260.88	18	chr15	20534668	.	CTT	*	260.88	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.11;DP=585;ExcessHet=2.8389;FS=3.461;InbreedingCoeff=-0.4026;MLEAC=4;MLEAF=0.222;MQ=51.13;MQRankSum=0.72;QD=0.84;ReadPosRankSum=-2.27;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	5	0	4	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	160.14	18	chr15	20534672	.	T	*	160.14	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.99;DP=547;ExcessHet=2.8389;FS=2.258;InbreedingCoeff=-0.341;MLEAC=4;MLEAF=0.2;MQ=48.12;MQRankSum=-0.202;QD=0.53;ReadPosRankSum=-2.418;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	6	0	4	0
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	122.3	13	chr15	20534676	.	C	*	122.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.18;DP=520;ExcessHet=2.8389;FS=2.964;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.313;MQ=48.9;MQRankSum=-0.109;QD=0.4;ReadPosRankSum=1.75;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	4	0	4	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	258.08	13	chr15	20534684	.	G	*	258.08	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.265;DP=508;ExcessHet=2.8389;FS=5.277;InbreedingCoeff=-0.3337;MLEAC=4;MLEAF=0.2;MQ=46.37;MQRankSum=-1.226;QD=0.84;ReadPosRankSum=0.041;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,7:52:99:.:.:193,0,1788:.	6	0	4	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	.	.	.	.	.	.	.	.	0.15	2693.45	44	chr15	21652117	.	A	C	2693.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.257;DP=512;ExcessHet=0.7463;FS=1.551;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=27.93;MQRankSum=0.588;QD=10.48;ReadPosRankSum=-0.645;SOR=0.587	GT:AD:DP:GQ:PL	0/1:25,28:53:99:630,0,570	7	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	.	.	.	.	.	.	.	.	0.15	4672.45	45	chr15	21652190	.	C	T	4672.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=5.18;DP=794;ExcessHet=0.7463;FS=3.219;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.36;MQRankSum=-0.274;QD=9.94;ReadPosRankSum=0.342;SOR=0.671	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1222,0,1335	7	0	3	0
chr15	21652257	21652257	G	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G374A:p.G125E	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482902508	0.0043	0.0045	0.0045	0.0041	0.0057	0.0041	0.0041	0.0055	0.0055	0.0011	0.0021	0.0001	0.0033	0.0023	0.0010	0.0057	0.0039	0.0006	0.0036	0.0040	0.0040	0.0031	0.0058	0.0033	0.0032	0.0048	0.0046	0.0014	0	0.0046	0	0.0058	0.0006	0	0.0053	0.0048	0.0003	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000211	0.47681	D	0.000000	0.787422	0.29264	N	.	.	.	.	.	.	.	.	.	0.546	0.57263	-1.1184	0.02435	T	0.002	0.00738	T	10	0.009637654	0.00217	T	.	.	.	.	.	.	.	0.251116650651	0.24721	0.23882760793853866	0.23796	.	.	0.301523327827	0.10628	T	.	.	.	-0.20582	0.19972	T	-0.0658111	0.65924	T	0.0598858983408519	0.07150	T	0.958604	0.84374	D	.	.	.	.	.	.	.	.	-7.682	0.58882	D	.	.	0.315	0.54116	B	.;.	.;.	4.188128	0.63098	24.5	0.99722990060315986	0.82195	0.53934	0.29492	D	AEFHCI	.	.	.	0.342479837963927	0.58343	4.006032	0.165524242235621	0.47969	3.019448	0.0181718861595087	0.13029	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	0.367000	0.20116	5.030000	0.46819	0.299000	0.18918	0.003000	0.16062	1.000000	0.68203	0.940000	0.48062	0.0:0.0:1.0:0.0	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	.	.	.	.	.	.	.	.	0.05	1061.43	45	chr15	21652257	.	G	A	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.17;MQRankSum=0.94;QD=9.74;ReadPosRankSum=-0.402;SOR=0.668	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1073,0,1236	9	0	1	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	.	.	.	.	.	.	.	.	0.15	7009.45	45	chr15	21652283	.	G	C	7009.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.403;DP=748;ExcessHet=0.7463;FS=1.126;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.75;MQRankSum=-0.654;QD=16.26;ReadPosRankSum=0.351;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,55:107:99:0|1:21652283_G_C:2066,0,1924:21652283	7	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	.	.	.	.	.	.	.	.	0.15	6840.45	45	chr15	21652290	.	C	A	6840.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.047;DP=731;ExcessHet=0.7463;FS=2.52;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.6;MQRankSum=-0.426;QD=16.36;ReadPosRankSum=0.36;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,52:103:99:0|1:21652283_G_C:1996,0,1917:21652283	7	0	3	0
chr15	22080904	22080904	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T280C:p.F94L	.	673	824	9	16	0	41	0.0242747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	.	0.0127	.	0.0346	0.0303	0.0346	0.1808	0.0218	0.0204	0.0453	0.0225	0.0287124	4439	154602	rs75967710	0	3.171e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.30143	T	0.779	0.44223	P	0.23	0.38212	B	0.000188	0.48115	D	0.000000	1	0.08975	N	1.46	0.36832	L	.	.	.	.	.	.	0.079	0.05414	-0.9131	0.46467	T	0.000	0.00011	T	10	0.0025030375	0.00038	T	.	.	.	.	.	0.51	0.60693	.	.	0.08228647535963951	0.08163	.	.	.	.	.	0.007686	0.07080	T	-0.644272	0.00078	T	-0.675916	0.07235	T	0.042197753455248	0.04092	T	0.815918	0.47089	T	0.170682	0.37658	0.20747757	0.45008	0.170682	0.37658	0.20747757	0.45007	-4.798	0.34568	T	.	.	0.655	0.71111	P	.	.	3.455234	0.48129	22.6	0.97555231184666047	0.34593	0.28674	0.23618	N	AEFGBHCI	0.106858	0.21307	N	-0.147224762427349	0.35353	2.029546	-0.209237419650798	0.31203	1.763728	0.572346006568893	0.21503	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	1.042000	0.29914	3.341000	0.37707	0.298000	0.18894	0.001000	0.13787	0.999000	0.35428	0.572000	0.30699	0.0:0.0:0.0:1.0	8.582	0.32798	.	.	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	0.030715	0.040404	0.028533	0.011696	0.000000	0.034483	0.042683	0.045455	0.05556	199.27	35	chr15	22080904	.	T	C	199.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.82;DP=464;ExcessHet=0;FS=45.653;MLEAC=1;MLEAF=0.056;MQ=52.26;MQRankSum=-6.659;QD=0.95;ReadPosRankSum=0.535;SOR=5.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,19:210:99:0|1:22080904_T_C:210,0,7898:22080904	8	0	1	1
chr15	22080911	22080911	G	A	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.G287A:p.G96E	.	675	821	9	17	0	43	0.0255193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.5590	.	0.6277	0.4486	0.6942	0.5643	0.6854	0.6454	0.6578	0.6311	0.042632	6591	154602	rs1835183	2.2e-05	1.902e-05	4.57e-05	0	3.824e-05	0	0	.	.	0	0	0	0	0	0	3.824e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	0.97	0.56973	D	0.735	0.55480	P	0.000225	0.47286	D	0.000000	1	0.08975	P	2.535	0.73915	M	.	.	.	.	.	.	0.096	0.07673	-1.0465	0.15389	T	0.000	0.00011	T	9	0.003199637	0.00054	T	.	.	.	.	.	.	.	.	.	0.365153052791839	0.36429	.	.	.	.	.	0.011273	0.10082	T	-0.166378	0.25784	T	-0.476767	0.24791	T	0.0259915178302949	0.01405	T	0.205079	0.02403	T	0.24576344	0.47538	0.2498259	0.50562	0.24576344	0.47538	0.2498259	0.50561	-6.201	0.47931	T	.	.	0.171	0.37520	B	.	.	4.079812	0.60676	24.2	0.99452379572606597	0.65325	0.11299	0.16541	N	AEFGBHCI	0.080630	0.16304	N	0.092529792346906	0.46114	2.85693	-0.0680915481882996	0.36717	2.140422	0.54334032595325	0.21271	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.132000	0.15716	8.345000	0.77002	0.303000	0.18983	0.006000	0.17386	1.000000	0.68203	0.512000	0.29290	0.0:0.0:1.0:0.0	10.808	0.45732	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0	0	0.599698	0.570707	0.581522	0.602339	0.600000	0.594828	0.655488	0.606061	0.05556	231.27	35	chr15	22080911	.	G	A	231.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.6;DP=488;ExcessHet=0;FS=38.852;MLEAC=1;MLEAF=0.056;MQ=52.09;MQRankSum=-7.186;QD=1.01;ReadPosRankSum=0.542;SOR=4.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,22:228:99:0|1:22080904_T_C:242,0,8354:22080904	8	0	1	1
chr15	22081006	22081006	C	T	exonic	OR4M2	.	stopgain	OR4M2:NM_001004719:exon1:c.C382T:p.R128X	.	672	794	37	19	0	75	0.0450992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185	0.0505192	0.0325	0.0296	0.0345	0.1538	0.0218	0.0204	0.0453	0.0219	0.0290876	4497	154602	rs78256866	0	3.064e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000185	0.48115	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0937667	0.63611	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.792551	0.95741	35	0.99832391884684535	0.91370	0.47264	0.27944	N	AEFDGBCI	0.235043	0.35770	N	0.608319707800418	0.73699	6.009183	0.352040610194453	0.58631	4.034739	0.523553565198187	0.21116	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.566000	0.23296	-0.743000	0.07611	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.2821:0.7179:0.0:0.0	6.679	0.22300	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.029234	0.035354	0.027174	0.011765	0.000000	0.034483	0.042683	0.045455	0.0625	1512.78	35	chr15	22081006	.	C	T	1512.78	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.558;DP=527;ExcessHet=0;FS=3.624;MLEAC=1;MLEAF=0.063;MQ=44.9;MQRankSum=-10.01;QD=5.75;ReadPosRankSum=3.85;SOR=0.59	GT:AD:DP:GQ:PL	0/1:175,88:263:99:1523,0,4114	7	0	1	2
chr15	22081181	22081181	G	A	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.G557A:p.R186Q	.	560	917	36	9	0	54	0.0286017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0133	.	0.0323	0.0299	0.0344	0.1519	0.0218	0.0203	0.0453	0.0218	0.0104119	271	26028	rs112370472	1.583e-05	2.596e-05	3.436e-05	0	2.738e-05	2.63e-06	9.9e-07	4.54e-06	1.7e-06	0	0	0	0	0	0	2.738e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.48594	D	0.027	0.19556	B	0.025	0.20508	B	0.000336	0.45700	D	0.000000	0.982304	0.24974	N	0.43	0.12624	N	.	.	.	.	.	.	0.066	0.03841	-0.9654	0.38132	T	0.000	0.00011	T	10	0.0017219782	0.00022	T	.	.	.	.	.	.	.	.	.	0.23905920919614257	0.23819	.	.	.	.	.	0.006572	0.05999	T	-0.615257	0.00118	T	-0.63492	0.10044	T	0.0208086093620371	0.00781	T	0.630337	0.24523	T	0.07212918	0.16020	0.11710262	0.28269	0.07212918	0.16020	0.11710262	0.28268	-4.671	0.33051	T	.	.	0.086	0.10931	B	.	.	3.124930	0.42199	21.5	0.99834674602958939	0.91628	0.06708	0.12729	N	AEFGBCI	.	.	.	-0.580585229479446	0.19534	1.023148	-0.517038118105351	0.21690	1.17457	0.978852491937488	0.29965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.173000	0.16538	0.158000	0.15372	0.303000	0.18983	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1658:0.0:0.8342:0.0	5.349	0.15328	.	.	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	0.029630	0.035354	0.027174	0.012295	0.000000	0.034483	0.042945	0.045455	0.05	202.51	35	chr15	22081181	.	G	A	202.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=292;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.0593;MLEAC=1;MLEAF=0.05;MQ=30.42;MQRankSum=-3.144;QD=5.47;ReadPosRankSum=-1.828;SOR=0.451	GT:AD:DP:GQ:PL	0/1:26,11:37:99:214,0,784	9	0	1	0
chr15	22081228	22081228	A	T	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A604T:p.S202C	.	521	957	35	9	0	53	0.0269446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0173	.	0.0323	0.0301	0.0344	0.1521	0.0218	0.0204	0.0453	0.0219	0.0273541	4229	154602	rs79101657	0	4.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.981	0.75168	D	0.000013	0.62929	D	0.000000	0.586907	0.32422	D	0.905	0.23240	L	.	.	.	.	.	.	0.076	0.05037	-0.3640	0.73144	T	0.000	0.00011	T	10	0.0023354292	0.00034	T	.	.	.	.	.	.	.	.	.	0.30315144890699713	0.30228	.	.	.	.	.	0.008564	0.07859	T	-0.564254	0.00239	T	-0.561659	0.16222	T	0.0384421845010854	0.03411	T	0.861714	0.55578	D	0.20311423	0.42378	0.24912716	0.50477	0.20311423	0.42378	0.24912716	0.50476	-4.232	0.27212	T	.	.	0.121	0.25067	B	.	.	3.854838	0.55867	23.7	0.98295364329275925	0.39992	0.26930	0.23134	N	AEFGBCI	.	.	.	-0.00935321865655644	0.41431	2.478048	-0.133010117939739	0.34069	1.955644	0.986907717140307	0.31148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.364000	0.20053	3.314000	0.37488	0.334000	0.19664	0.000000	0.06391	0.013000	0.20296	0.777000	0.36790	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	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	0.028013	0.025253	0.027174	0.008197	0.000000	0.034483	0.042683	0.045455	0.05	347.45	42	chr15	22081228	.	A	T	347.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.71;DP=334;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=29.93;MQRankSum=-2.03;QD=7.09;ReadPosRankSum=0.896;SOR=1.385	GT:AD:DP:GQ:PL	0/1:33,16:49:99:359,0,984	9	0	1	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	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3326,309,0	0	9	1	0
chr15	22534159	22534159	C	T	exonic	HERC2	.	unknown	UNKNOWN	Mental retardation, autosomal recessive 38, Autosomal recessive	58	167	0	1	0	2	0.00595238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163305692	0.0002	0.0007	0.0001	0.0002	0.0011	0.0001	0.0001	0.0002	0.0001	0.0009	0.0002	0.0001	0.0002	0	0.0011	0.0001	0.0003	0.0002	0.0001	0.0009	0.0001	0.0001	0.0005	4.756e-05	2.791e-05	4.21e-05	2.238e-05	0.0005	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	164.78	8	chr15	22534159	.	C	T	164.78	.	AC=2;AF=0.111;AN=18;DP=48;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=26.1;QD=27.46;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,6:6:18:185,18,0	8	1	0	1
chr15	22612264	22612264	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon9:c.G613C:p.G205R	.	438	1075	8	1	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28599747	0.0005	0.0007	0.0004	0.0006	0.0042	0.0005	0.0005	0.0038	0.0037	9.235e-05	0.0002	0.0012	0.0021	0	0.0032	0.0002	0.0007	0.0042	0.0003	0.0005	0.0003	0.0003	0.0037	0.0003	0.0002	0.0024	0.0020	0.0001	0	6.539e-05	0.0009	0.0021	0	0	0.0002	0.0010	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1120.43	34	chr15	22612264	.	C	G	1120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.357;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.09;MQRankSum=-0.308;QD=14.74;ReadPosRankSum=-1.077;SOR=0.7	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1132,0,1082	9	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,78:119:99:.:.:4551,1416,1448:.	0	0	10	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.1	2398.14	41	chr15	28257189	.	T	C	2398.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.59;DP=491;ExcessHet=0.2348;FS=1.877;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.72;SOR=0.552	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1369,0,928	8	0	2	0
chr15	30614278	30614278	T	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon18:c.T1700C:p.L567P,GOLGA8T:NM_001355469:exon18:c.T1700C:p.L567P	.	166	1344	12	0	0	12	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00521074945836	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751050580	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0022	0.0018	3.129e-05	0.0018	0	2.71e-05	5.275e-05	0.0036	0.0002	0.0004	0.0006	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0023	0.0020	4.881e-05	0	0.0030	0.0003	0	0	0	0.0002	0.0010	0.0006	0.07	0.35349	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.919864	0.36646	D	2.36	0.67893	M	1.33	0.35031	T	-5.46	0.85541	D	0.251	0.28381	.	.	.	.	.	.	.	0.03756544	0.02119	T	0.005211	0.13279	T	.	.	.	.	0.369682402691	0.36581	0.3928589694864999	0.39200	4.073624099	0.99889	.	.	.	0.040787	0.25642	T	-0.489659	0.00652	T	-0.481065	0.24334	T	.	.	.	0.730627	0.34608	T	0.6340144	0.74512	0.57270443	0.75252	0.6340144	0.74513	0.57270443	0.75252	-2.09	0.03541	T	.	.	0.135	0.29228	B	.	.	2.013793	0.25593	16.82	0.99056653295261643	0.51390	0.00768	0.03170	N	AEFI	0.075431	0.15147	N	.	.	.	.	.	.	1.24580606210035E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.049000	0.13983	-0.871000	0.07103	0.142000	0.17677	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.0:5.0E-4:0.0:0.9995	4.588	0.11685	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	876.43	44	chr15	30614278	.	T	C	876.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.662;DP=429;ExcessHet=0;FS=0.897;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.69;MQRankSum=1.11;QD=11.69;ReadPosRankSum=0.518;SOR=0.883	GT:AD:DP:GQ:PL	0/1:33,42:75:99:888,0,642	9	0	1	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K,CHRNA7:NM_001190455:exon10:c.G1441A:p.E481K	Schizophrenia, neurophysiologic defect in	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;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	1	0	0	0	0	0	0	0.023046	0.000000	0.026786	0.013514	0.250000	0.031250	0.019737	0.014085	0.05	229.43	34	chr15	32168303	.	G	A	229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.483;DP=283;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=26.84;MQRankSum=-1.383;QD=6.75;ReadPosRankSum=0.221;SOR=0.223	GT:AD:DP:GQ:PL	0/1:23,11:34:99:241,0,628	9	0	1	0
chr15	32401403	32401403	T	A	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon2:c.A121T:p.S41C	.	645	845	23	9	0	41	0.0236857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00678986209873	.	.	0.0042	0	0	0	0	0.0079	0	0	9.7e-05	15	154602	rs200674603	0.0094	0.0100	0.0087	0.0101	0.0203	0.0092	0.0092	0.0194	0.0191	0.0014	0.0036	0.0050	0.0001	0.0052	0.0086	0.0094	0.0108	0.0203	0.0069	0.0070	0.0073	0.0065	0.0145	0.0065	0.0063	0.0110	0.0098	0.0020	0.0101	0.0060	0.0066	0.0003	0.0025	0	0.0099	0.0071	0.0145	0.004	0.65419	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.58	0.69118	D	0.164	0.17278	-0.8777	0.49943	T	0.141	0.46072	T	6	0.0053943694	0.00118	T	0.00679	0.17953	T	0.048	0.13305	.	.	0.0138822411134	0.00435	0.14018493067096638	0.13941	3.36241963825	0.99660	.	.	.	.	.	.	-0.181247	0.23550	T	-0.498125	0.22542	T	0.0572239640983347	0.06724	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20469	B	.	.	1.592556	0.20368	14.72	0.97014196961605725	0.31997	0.01335	0.04597	N	AEFI	0.037893	0.05280	N	-0.682610803543696	0.16517	0.8422463	-0.961490719195059	0.10657	0.5381564	4.01112703668882E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.68	-2.84	0.05408	0.017000	0.13294	-0.444000	0.09141	0.204000	0.17941	0.002000	0.15269	0.000000	0.08366	0.155000	0.20479	0.0:0.3897:0.2715:0.3388	3.195	0.06234	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	.	.	.	.	.	.	.	.	0.0625	627.2	36	chr15	32401403	.	T	A	627.2	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.247;DP=256;ExcessHet=0;FS=2.2;MLEAC=1;MLEAF=0.063;MQ=33.71;MQRankSum=0.691;QD=10.45;ReadPosRankSum=-0.882;SOR=1.051	GT:AD:DP:GQ:PL	0/1:32,28:60:99:637,0,664	7	0	1	2
chr15	32603207	32603207	A	G	exonic	GOLGA8N	.	nonsynonymous SNV	GOLGA8N:NM_001282494:exon16:c.A1390G:p.K464E	.	249	1272	1	0	0	1	0.000392927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00102734515126	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201454724	0.0002	0.0007	0.0002	0.0001	0.0012	0.0001	0.0001	0.0007	0.0006	0.0012	0.0002	0.0022	0	0	0.0004	6.645e-05	0.0003	2.044e-05	0.0006	0.0018	0.0006	0.0005	0.0022	0.0005	0.0004	0.0012	0.0009	0.0011	0	0.0004	0.0046	0.0022	0	0	6.005e-05	0.0015	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	-0.855	0.01474	N	2.0	0.21473	T	0.9	0.01641	N	0.04	0.06587	-0.9952	0.31245	T	0.016	0.06711	T	6	0.013296455	0.00283	T	0.001027	0.01144	T	0.083	0.24192	0.151	0.05441	0.0482279557977	0.04254	0.1731095461279115	0.17230	.	.	.	.	.	0.002663	0.02055	T	-0.263549	0.12487	T	-0.616346	0.11475	T	0.0623600792419102	0.07536	T	0.544846	0.18617	T	0.030394388	0.02696	0.047531247	0.06865	0.030394388	0.02695	0.047531247	0.06865	-3.95	0.23053	T	.	.	0.052	0.00216	B	.;.	.;.	-0.139107	0.03417	0.621	0.15305716407731454	0.00369	0.15184	0.18786	N	AEFI	0.066289	0.12973	N	-1.32607195302854	0.03380	0.1508733	-1.50145058870284	0.02333	0.1071559	0.0779126217314249	0.15773	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.626	-1.25	0.08920	0.965000	0.28916	-1.960000	0.04430	-1.123000	0.01469	0.998000	0.41325	0.000000	0.08366	0.002000	0.04165	0.335:0.4394:0.2256:0.0	3.913	0.08710	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	97.43	44	chr15	32603207	.	A	G	97.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=524;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.47;MQRankSum=-2.291;QD=0.78;ReadPosRankSum=0.248;SOR=0.698	GT:AD:DP:GQ:PL	0/1:106,19:125:99:109,0,2382	9	0	1	0
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1317.43	34	chr15	33088938	.	T	C	1317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.342;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.511;SOR=0.67	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1329,0,1456	9	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	142.46	33	chr15	41096253	.	G	C	142.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.87;DP=572;ExcessHet=0.7463;FS=231.403;InbreedingCoeff=-0.1538;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.13;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,16:67:60:.:.:60,0,1436:.	7	0	3	0
chr15	41191441	41191441	C	A	splicing	EXD1	NM_001286441:exon10:c.864+1G>T;NM_152596:exon8:c.690+1G>T;NM_001385036:exon9:c.795+1G>T	.	.	.	.	.	.	.	.	.	.	0.9999	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.021e-07	2.061e-06	0	1.409e-06	9.241e-07	0	0	.	.	0	0	0	0	0	0	9.241e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.85627	D	0.246157	0.85438	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.989529	0.82714	27.9	0.9861207584635121	0.43651	0.98852	0.87708	D	AEFBI	.	.	.	0.999434606084906	0.95726	13.90353	0.823657466102563	0.91389	10.86131	0.999944271069346	0.47345	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.062806	0.01542	0	0.977133	0.80660	5.65	5.65	0.86881	5.332000	0.65686	7.395000	0.58538	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.485	0.87578	304	0.87780	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	499.43	38	chr15	41191441	.	C	A	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.098;DP=378;ExcessHet=0;FS=2.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.325;SOR=1.362	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,21:40:99:0|1:41191433_T_TA:511,0,460:41191433	9	0	1	0
chr15	41520478	41520478	C	-	exonic	RPAP1	.	frameshift deletion	RPAP1:NM_015540:exon22:c.3708delG:p.Q1237Sfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2640.39	34	chr15	41520477	.	GC	G	2640.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.416;DP=455;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=-1.049;SOR=0.624	GT:AD:DP:GQ:PL	0/1:67,76:143:99:2652,0,2242	9	0	1	0
chr15	41882418	41882418	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon11:c.C2098T:p.R700W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0458105007153	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	7.183e-07	1.026e-05	0	1.454e-06	.	0	0	.	.	0	0	3.964e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.524505	0.11705	N	0.733081	1	0.08975	N	2.175	0.60977	M	0.74	0.50459	T	-3.79	0.71639	D	0.193	0.21188	-0.8998	0.48014	T	0.209	0.56866	T	10	0.3509623	0.51956	T	0.045811	0.62162	D	0.045	0.12272	0.504	0.59770	0.806502677479	0.80468	0.20518899188673997	0.20435	.	.	0.473355740309	0.35142	T	0.191301	0.54610	T	-0.175177	0.24456	T	-0.489406	0.23455	T	0.94912576675415	0.63045	D	0.615438	0.23533	T	0.1280738	0.29952	0.15812671	0.36942	0.1280738	0.29952	0.15812671	0.36941	-7.029	0.54245	T	.	.	0.104	0.18828	B	.	.	3.458699	0.48198	22.6	0.99872992546053507	0.95076	0.03108	0.08043	N	AEFDBI	0.123327	0.23888	N	-0.180453602414217	0.33949	1.932	-0.395543746801545	0.25129	1.380138	0.999942246540877	0.47345	0.580535	0.33130	0	0.657636	0.61667	0	0.503968	0.08637	0	0.604944	0.38103	0	.	.	4.73	-0.213	0.12517	-0.025000	0.12361	0.338000	0.17353	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.307000	0.24666	0.086:0.0:0.4014:0.5127	8.033	0.29634	199	0.92292	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	774.43	35	chr15	41882418	.	G	A	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=426;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-2.055;SOR=0.544	GT:AD:DP:GQ:PL	0/1:64,37:101:99:786,0,1468	9	0	1	0
chr15	42218369	42218369	C	T	exonic	TMEM87A	.	nonsynonymous SNV	TMEM87A:NM_001286487:exon17:c.G1366A:p.D456N,TMEM87A:NM_015497:exon18:c.G1549A:p.D517N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.0102935696964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.48186	D	0.042	0.52060	D	0.041	0.21357	B	0.017	0.18140	B	0.000001	0.84330	N	0.052730	1	0.81001	D	2.225	0.63025	M	.	.	.	-3.9	0.73267	D	0.775	0.77507	-0.6731	0.61688	T	0.283	0.65468	T	9	0.69310826	0.71977	D	0.010294	0.26654	T	0.437	0.74164	0.648	0.78542	0.134007934775	0.12933	0.4968196346748368	0.49602	0.835255353543	0.67791	0.710123360157	0.68612	T	0.328765	0.69914	T	-0.0625297	0.42509	T	-0.327596	0.41736	T	0.981775403022766	0.74104	D	0.970103	0.92442	D	0.45024827	0.64056	0.3752358	0.62672	0.45024827	0.64057	0.3752358	0.62672	-11.16	0.81336	D	.	.	0.604	0.69024	P	.;.	.;.	4.886262	0.80184	27.3	0.99851069333782583	0.93013	0.99255	0.93517	D	AEFBI	0.837128	0.75480	D	0.252868801347815	0.53780	3.545577	0.422862688921768	0.62994	4.524449	0.999999999999944	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.56	5.56	0.83678	7.446000	0.79666	7.567000	0.60617	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.700	0.96042	390	0.83257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	806.43	33	chr15	42218369	.	C	T	806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.803;DP=389;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.208;SOR=0.446	GT:AD:DP:GQ:PL	0/1:40,36:76:99:818,0,1016	9	0	1	0
chr15	43364119	43364119	C	G	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon4:c.G1486C:p.V496L,ZSCAN29:NM_001372080:exon5:c.G1486C:p.V496L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00435458648677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.082	0.41573	T	0.009	0.15093	B	0.007	0.12992	B	0.023755	0.26385	N	0.372393	1	0.81001	D	0	0.06538	N	3.23	0.06931	T	-0.59	0.17624	N	0.09	0.06854	-0.9786	0.35322	T	0.012	0.04510	T	10	0.0989033	0.17914	T	0.004355	0.10592	T	0.032	0.07718	0.388	0.40951	0.279776271856	0.27574	0.19200742655363365	0.19118	0.0932311091372	0.10534	0.385940551758	0.23096	T	0.009732	0.08837	T	-0.319924	0.06903	T	-0.697325	0.05973	T	0.229103990416856	0.21908	T	0.127587	0.00998	T	0.053890184	0.10264	0.057526	0.10473	0.053890184	0.10263	0.057526	0.10472	-5.565	0.42471	T	.	.	0.158	0.34884	B	.	.	2.016226	0.25620	16.83	0.97990208880054497	0.37393	0.95283	0.64121	D	AEFBI	0.131832	0.25091	N	-0.494217457936979	0.22269	1.187932	-0.304003348965497	0.27970	1.555863	0.999901417691008	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	3.31	0.37025	1.388000	0.34048	0.353000	0.17497	-0.176000	0.10722	0.987000	0.36337	0.991000	0.31484	0.893000	0.43066	0.0:0.7357:0.0:0.2643	7.307	0.25624	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	33	chr15	43364119	.	C	G	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=439;ExcessHet=0;FS=1.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.657;SOR=0.547	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1711,0,1616	9	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	593.56	70	chr15	51480616	.	G	C	593.56	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-4.018;DP=832;ExcessHet=1.5895;FS=461.254;InbreedingCoeff=-0.4816;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.28;SOR=10.188	GT:AD:DP:GQ:PL	0/1:86,38:124:71:71,0,1740	1	0	4	5
chr15	55869581	55869581	C	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284340:exon3:c.G1711C:p.E571Q,NEDD4:NM_001284338:exon4:c.G1762C:p.E588Q,NEDD4:NM_001284339:exon4:c.G1762C:p.E588Q,NEDD4:NM_001329212:exon8:c.G64C:p.E22Q,NEDD4:NM_006154:exon8:c.G505C:p.E169Q	.	445	1052	22	3	0	28	0.0131332	0.9842	0.78	.	739699	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.341	.	0.0008	0.00179712	0.0098	0	0.0012	0.0008	0.0136	0.0044	0.0191	0.0236	0.0029236	452	154602	rs200302839	0.0023	0.0024	0.0017	0.0029	0.0189	0.0022	0.0022	0.0181	0.0178	0	0.0003	0.0008	2.638e-05	0.0086	0.0074	0.0010	0.0025	0.0189	0.0021	0.0021	0.0014	0.0027	0.0170	0.0019	0.0018	0.0140	0.0129	4.812e-05	0	0.0003	0.0012	0	0.0091	0	0.0018	0.0009	0.0170	0.137	0.25979	T	0.663	0.28860	T	0.609	0.90584	P	0.254	0.73362	B	.	.	.	.	0.867592	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-2.14	0.48523	N	0.531	0.55972	-0.8322	0.53159	T	0.227	0.59221	T	9	0.008531868	0.00193	T	.	.	.	0.341	0.66297	.	.	0.931635973363	0.93093	0.3377238512636838	0.33685	.	.	.	.	.	0.251468	0.62172	T	-0.181927	0.23450	T	-0.0191658	0.69083	D	0.0473805698945018	0.05033	T	0.919908	0.78720	D	0.1940468	0.41138	0.17848879	0.40521	0.1940468	0.41138	0.17848879	0.40520	-10.473	0.76692	D	.	.	0.403	0.59727	A	.;.;.	.;.;.	4.758105	0.76898	26.6	0.99652454092928966	0.77380	0.98588	0.84418	D	AEFBI	0.897493	0.83972	D	0.464009259402484	0.65002	4.768017	0.538009565599981	0.70567	5.524293	0.999999999999816	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.266000	0.77851	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.432	0.90575	793	0.45818	.;.;.	.	.	.	.	.	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	0.005056	0.000000	0.001359	0.002941	0.000000	0.008621	0.003049	0.015267	0.05	334.43	34	chr15	55869581	.	C	G	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=321;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-0.567;SOR=0.973	GT:AD:DP:GQ:PL	0/1:27,17:44:99:346,0,589	9	0	1	0
chr15	56701070	56701070	T	C	exonic	ZNF280D	.	nonsynonymous SNV	ZNF280D:NM_001002843:exon5:c.A205G:p.I69V,ZNF280D:NM_001002844:exon6:c.A244G:p.I82V,ZNF280D:NM_001288588:exon6:c.A244G:p.I82V,ZNF280D:NM_001288589:exon6:c.A244G:p.I82V,ZNF280D:NM_017661:exon6:c.A244G:p.I82V	.	438	1074	10	0	0	10	0.00463392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0002	0.00199681	0.0014	0.0002	0.0003	0	0	0.0006	0.0022	0.0072	0.0012419	192	154602	rs145488880	0.0008	0.0008	0.0007	0.0010	0.0068	0.0008	0.0008	0.0064	0.0062	2.99e-05	0.0002	0.0008	0	1.873e-05	0.0054	0.0004	0.0014	0.0068	0.0006	0.0006	0.0005	0.0006	0.0070	0.0005	0.0004	0.0052	0.0045	9.625e-05	0	0.0001	0.0009	0.0002	0	0	0.0006	0.0009	0.0070	0.351	0.12265	T	0.549	0.09457	T	0.016	0.17332	B	0.046	0.24676	B	0.022642	0.01577	N	2.948800	1	0.81001	D	1.59	0.40313	L	1.71	0.26737	T	-0.14	0.09135	N	0.074	0.07535	-1.0586	0.12108	T	0.046	0.19879	T	10	0.0050553977	0.00109	T	.	.	.	0.036	0.09122	.	.	0.256237801699	0.25221	0.08557824835361086	0.08491	0.0395459482803	0.04223	0.341272056103	0.16628	T	0.017188	0.14070	T	-0.59525	0.00156	T	-0.623947	0.10878	T	0.0164448186932982	0.00410	T	0.753225	0.37546	T	0.015967684	0.00168	0.024870241	0.00515	0.015967684	0.00168	0.024870241	0.00515	-2.653	0.07211	T	.	.	0.076	0.05935	B	.;.;.;.	.;.;.;.	1.494431	0.19221	14.15	0.83608675770925156	0.14820	0.72752	0.35600	D	AEFBI	0.069653	0.13797	N	-0.464875033161856	0.23239	1.246515	-0.326959416843799	0.27231	1.509586	0.0370836561118398	0.14278	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	0.26	0.14844	0.477000	0.21906	-1.453000	0.05405	0.609000	0.47794	1.000000	0.71638	0.000000	0.08366	0.981000	0.58702	0.1236:0.1975:0.0:0.679	6.047	0.18990	485	0.77085	.;Domain of unknown function DUF4195;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.015152	0.05	936.43	34	chr15	56701070	.	T	C	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=413;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=2.85;SOR=0.816	GT:AD:DP:GQ:PL	0/1:60,39:99:99:948,0,1552	9	0	1	0
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	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	0	0	1	0	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.05	610.43	34	chr15	60466706	.	T	C	610.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.327;DP=357;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.021;SOR=0.839	GT:AD:DP:GQ:PL	0/1:33,29:62:99:622,0,747	9	0	1	0
chr15	63129605	63129605	C	T	exonic	LACTB	.	nonsynonymous SNV	LACTB:NM_032857:exon5:c.C1073T:p.T358M,LACTB:NM_171846:exon5:c.C1073T:p.T358M	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0155905167387	.	.	1.651e-05	0	0	0	0	1.501e-05	0	6.094e-05	1.29e-05	2	154602	rs756244410	1.85e-05	1.915e-05	1.636e-05	2.066e-05	0.0001	1.267e-05	1.086e-05	3.355e-05	1.986e-05	0	0	0	0.0001	0	0	1.53e-05	3.317e-05	4.661e-05	6.574e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.034	0.45756	D	0.019	0.59159	D	0.998	0.73220	D	0.891	0.63213	P	0.000281	0.46590	D	0.219721	0.748622	0.29661	N	1.15	0.29295	L	0.97	0.42502	T	-1.68	0.40082	N	0.379	0.42050	-0.8996	0.48034	T	0.160	0.49480	T	10	0.32392278	0.49722	T	0.015591	0.36407	T	0.152	0.39956	0.441	0.49648	0.687275677094	0.68460	0.6797279741461497	0.67911	0.995737323308	0.74226	0.482673048973	0.36425	T	0.036954	0.24298	T	-0.204291	0.20189	T	-0.349079	0.39309	T	0.796456217765808	0.46114	D	0.925407	0.73951	D	0.15140617	0.34421	0.20100911	0.44059	0.15140617	0.34421	0.20100911	0.44058	-11.324	0.81404	D	.	.	0.090	0.21125	B	.;.	.;.	4.919570	0.81018	27.5	0.99914388843447621	0.98309	0.94573	0.61606	D	AEFGBI	0.528344	0.54991	D	0.659861442240541	0.77008	6.592834	0.701284557853939	0.82475	7.77651	0.999999951377855	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	5.552000	0.66986	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.1516:0.8484:0.0:0.0	13.948	0.63608	759	0.50631	Beta-lactamase-related;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	524.43	33	chr15	63129605	.	C	T	524.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.579;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-2.18;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,26:66:99:536,0,883	9	0	1	0
chr15	79907652	79907652	C	T	exonic	ST20-MTHFS	.	nonsynonymous SNV	ST20-MTHFS:NM_001199760:exon2:c.G22A:p.A8T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00536348738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.772e-06	7.634e-05	1.397e-05	0	1.158e-05	0	0	.	.	0	0	0	0	0	0	1.158e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.91255	T	0.546	0.92824	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.53943	T	0.17	0.05810	N	0.11	0.24758	-1.0246	0.22214	T	0.091	0.34901	T	7	0.10728598	0.19921	T	0.005363	0.13740	T	.	.	0.306	0.27646	0.228597637076	0.22478	0.13777622526195468	0.13701	0.233105781867	0.29030	.	.	.	0.001675	0.01102	T	-0.166453	0.25773	T	-0.476874	0.24780	T	0.573631167411804	0.35374	D	0.268673	0.08799	T	0.16562776	0.36847	0.17337786	0.39661	0.16562776	0.36847	0.17337786	0.39660	-3.54	0.16996	T	.	.	0.156	0.34492	B	.;.;.;.;.	.;.;.;.;.	0.552901	0.09217	5.997	0.99286237411001732	0.58078	0.01474	0.04912	N	AEFBI	0.032214	0.03595	N	-0.532673902993828	0.21030	1.113093	-0.769420325280148	0.15246	0.8008649	0.989549390624043	0.31860	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.158	0.158	0.14233	0.456000	0.21572	0.469000	0.18693	0.243000	0.18268	0.155000	0.23727	0.061000	0.22037	0.459000	0.28096	.	.	.	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	.	.	.	.	.	.	.	.	0.1	73.84	1	chr15	79907652	.	C	T	73.84	.	AC=2;AF=0.1;AN=20;DP=51;ExcessHet=0;FS=0;InbreedingCoeff=0.5494;MLEAC=1;MLEAF=0.05;MQ=52;QD=33.91;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:79907652_C_T:90,6,0:79907652	9	1	0	0
chr15	79907660	79907660	C	T	exonic	ST20-MTHFS	.	nonsynonymous SNV	ST20-MTHFS:NM_001199760:exon2:c.G14A:p.R5Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00347608664395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262435049	1.308e-05	1.59e-05	1.603e-05	1.104e-05	1.324e-05	2.17e-06	8.1e-07	.	.	0	0	0	0	0	0	1.324e-05	0.0002	0	6.632e-06	6.583e-06	1.296e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.149	0.91255	T	0.134	0.34241	T	0.893	0.49136	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	.	.	.	0.84	0.54540	T	-0.52	0.27463	N	0.129	0.13055	-1.0513	0.14036	T	0.039	0.16677	T	7	0.079553455	0.12811	T	0.003476	0.07847	T	.	.	0.246	0.18139	0.28058544554	0.27657	0.23234113397252784	0.23149	0.301050943185	0.32451	.	.	.	7.58E-4	0.00354	T	-0.16532	0.25945	T	-0.475247	0.24952	T	0.0896094339684546	0.11172	T	0.355164	0.11326	T	0.2286426	0.45587	0.16586515	0.38348	0.2286426	0.45587	0.16586515	0.38347	-4.088	0.25113	T	.	.	0.185	0.40114	B	.;.;.;.;.	.;.;.;.;.	0.529417	0.08981	5.763	0.98777721133408203	0.46080	0.00879	0.03471	N	AEFBI	0.042334	0.06557	N	-0.771417090937093	0.14059	0.6972889	-0.961009303365537	0.10668	0.5387997	0.989549390624043	0.31860	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.158	0.158	0.14233	0.212000	0.17289	-0.327000	0.09919	0.243000	0.18268	0.068000	0.22015	0.006000	0.19429	0.190000	0.21601	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	74.03	1	chr15	79907660	.	C	T	74.03	.	AC=2;AF=0.1;AN=20;DP=55;ExcessHet=0;FS=0;InbreedingCoeff=0.5146;MLEAC=1;MLEAF=0.05;MQ=52;QD=26.04;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:79907652_C_T:90,6,0:79907652	9	1	0	0
chr15	79907667	79907667	G	A	exonic	ST20-MTHFS	.	stopgain	ST20-MTHFS:NM_001199760:exon2:c.C7T:p.R3X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs539806928	2.204e-05	7.952e-05	1.815e-05	2.467e-05	3.09e-05	5.86e-06	2.63e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	2.96e-05	0	3.09e-05	3.973e-05	3.946e-05	5.181e-05	2.71e-05	0.0004	1.726e-05	1.137e-05	7.307e-05	3.035e-05	0	0	6.56e-05	0	0	0	0	4.412e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266453	0.80121	D	0.144965	0.79865	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Tolerant;Tolerant;Tolerant	.;High;High;High;High	0.253960	0.06330	2.790	0.98920008727672537	0.48546	0.00302	0.01607	N	AEFBI	0.028759	0.02592	N	-0.30034552286281	0.29135	1.613058	-0.746204432322784	0.15816	0.8336569	0.989549390624043	0.31860	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.158	0.158	0.14233	-0.806000	0.04632	-3.020000	0.03134	-0.735000	0.03699	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	73.83	1	chr15	79907667	.	G	A	73.83	.	AC=2;AF=0.1;AN=20;DP=59;ExcessHet=0;FS=0;InbreedingCoeff=0.5551;MLEAC=1;MLEAF=0.05;MQ=52;QD=31.02;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:79907652_C_T:90,6,0:79907652	9	1	0	0
chr15	79907669	79907669	G	A	exonic	ST20-MTHFS	.	nonsynonymous SNV	ST20-MTHFS:NM_001199760:exon2:c.C5T:p.A2V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00383395925699	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1047070151	4.789e-05	5.407e-05	5.956e-05	4.004e-05	8.034e-05	2.019e-05	1.328e-05	3.146e-05	2.003e-05	0	0	0	0	0	0	8.034e-05	0	3.32e-05	6.628e-06	1.317e-05	1.296e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.019	0.92824	D	0.976	0.58310	D	0.695	0.53983	P	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.53943	T	-0.38	0.13418	N	0.152	0.15609	-1.0463	0.15447	T	0.052	0.22037	T	7	0.15750873	0.29640	T	0.003834	0.08961	T	.	.	0.24	0.17218	0.167679373172	0.16340	0.49377512060465417	0.49298	0.878436340084	0.69665	.	.	.	0.001829	0.01251	T	-0.158378	0.27009	T	-0.465276	0.26027	T	0.222441834944697	0.21585	T	0.257674	0.05863	T	0.0660743	0.14183	0.09937215	0.23725	0.0660743	0.14182	0.09937215	0.23724	-3.596	0.17799	T	.	.	0.228	0.46013	B	.;.;.;.;.	.;.;.;.;.	0.540969	0.09098	5.879	0.99694594894829669	0.80180	0.00754	0.03131	N	AEFBI	0.031638	0.03423	N	-0.7257641928432	0.15299	0.7698459	-0.967278181937622	0.10525	0.5306387	0.989549390624043	0.31860	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	0.158	0.158	0.14233	0.252000	0.18046	-0.501000	0.08802	-0.735000	0.03699	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	73.83	1	chr15	79907669	.	G	A	73.83	.	AC=2;AF=0.1;AN=20;DP=59;ExcessHet=0;FS=0;InbreedingCoeff=0.5551;MLEAC=1;MLEAF=0.05;MQ=52;QD=33.75;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:79907652_C_T:90,6,0:79907652	9	1	0	0
chr15	82434226	82434246	GTGAACAGGAGGAGAGGCTGT	-	exonic	GOLGA6L9	.	nonframeshift deletion	GOLGA6L9:NM_001291420:exon5:c.152_172del:p.C65_L71del,GOLGA6L9:NM_198181:exon6:c.626_646del:p.C223_L229del	.	467	1047	8	0	0	8	0.0038059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1391621325	0.0002	0.0006	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0006	0.0005	0.0002	0.0002	0.0009	0.0002	0.0007	0.0001	0.0003	0.0004	0.0021	0.0062	0.0022	0.0021	0.0049	0.0019	0.0019	0.0044	0.0041	0.0049	0	0.0023	0.0012	0.0022	0.0009	0.0069	0.0007	0.0035	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	204.39	56	chr15	82434225	.	CGTGAACAGGAGGAGAGGCTGT	C	204.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.996;DP=584;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.07;MQRankSum=-6.896;QD=1.62;ReadPosRankSum=0.699;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,13:126:99:0|1:82434225_CGTGAACAGGAGGAGAGGCTGT_C:216,0,4693:82434225	9	0	1	0
chr15	82434296	82434296	G	T	exonic	GOLGA6L9	.	nonsynonymous SNV	GOLGA6L9:NM_001291420:exon5:c.G222T:p.Q74H,GOLGA6L9:NM_198181:exon6:c.G696T:p.Q232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.102764349659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.583e-06	0.0001	0	1.348e-05	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.186	0.28860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.24	0.30952	L	.	.	.	.	.	.	0.113	0.10056	-0.9932	0.31775	T	0.050	0.21378	T	5	0.10581961	0.19578	T	0.102764	0.77642	D	.	.	.	.	0.0297737177859	0.01360	0.030203817093891437	0.02969	.	.	0.65699505806	0.60980	T	0.046	0.27322	T	-0.176958	0.24190	T	-0.491964	0.23184	T	0.056914291391867	0.06674	T	0.673733	0.28234	T	0.040667992	0.05847	0.06111681	0.11748	0.040667992	0.05846	0.06111681	0.11748	-9.986	0.73828	D	.	.	0.591	0.68499	P	.	.	1.320338	0.17245	13.05	0.85796948858333644	0.16118	0.33114	0.24750	N	AEFI	0.086562	0.17551	N	-0.444101084708952	0.23940	1.289186	-0.636469507733856	0.18559	0.9919549	3.86668271368846E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	0.119	0.119	0.13989	0.835000	0.27184	-0.068000	0.12334	0.198000	0.17903	0.005000	0.17040	0.000000	0.08366	0.009000	0.08673	1.0E-4:0.4779:0.5218:1.0E-4	3.827	0.08370	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	110.43	56	chr15	82434296	.	G	T	110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.075;DP=522;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.57;MQRankSum=-3.126;QD=1.01;ReadPosRankSum=-3.056;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,10:109:99:0|1:82434225_CGTGAACAGGAGGAGAGGCTGT_C:122,0,3919:82434225	9	0	1	0
chr15	84512504	84512504	C	T	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	661	856	2	1	2	6	0.002331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199810866	0.0016	0.0040	0.0014	0.0017	0.0017	0.0015	0.0015	0.0016	0.0016	0.0002	0.0007	0.0020	0	0.0023	0.0003	0.0017	0.0025	0.0006	0.0021	0.0041	0.0023	0.0020	0.0041	0.0019	0.0019	0.0037	0.0035	0.0003	0.0115	0.0009	0.0014	0	0.0019	0	0.0041	0.0011	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	.	.	.	.	.	.	.	.	0.05	230.43	230	chr15	84512504	.	C	T	230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.912;DP=1294;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.04;MQRankSum=-0.07;QD=0.61;ReadPosRankSum=0.637;SOR=0.742	GT:AD:DP:GQ:PL	0/1:334,44:378:99:242,0,8650	9	0	1	0
chr15	88881639	88881639	G	T	exonic	HAPLN3	.	nonsynonymous SNV	HAPLN3:NM_178232:exon3:c.C211A:p.R71S,HAPLN3:NM_001307952:exon4:c.C397A:p.R133S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0402455603652	0.0007	0.000399361	0.0007	0.0005	0.0010	0	0	0.0011	0.0011	0	0.0006209	96	154602	rs141308595	0.0011	0.0011	0.0011	0.0012	0.0019	0.0011	0.0011	0.0013	0.0013	0.0004	0.0011	0	0	3.762e-05	0.0019	0.0013	0.0011	1.159e-05	0.0008	0.0008	0.0010	0.0007	0.0012	0.0007	0.0007	0.0010	0.0009	0.0006	0	0.0010	0	0	0	0.0034	0.0012	0.0019	0	0.09	0.31987	T	0.304	0.31326	T	0.636	0.40327	P	0.564	0.49695	P	0.328281	0.14157	N	0.699070	0.991269	0.24058	N	1.78	0.46185	L	-0.04	0.63240	T	-2.05	0.63207	N	0.404	0.44474	-0.8258	0.53569	T	0.267	0.63823	T	10	0.07643601	0.11940	T	0.040246	0.59269	D	0.211	0.50185	.	.	0.716755069619	0.71426	0.596669343113118	0.59596	0.529839768189	0.50541	0.272519409657	0.06471	T	0.031358	0.22006	T	-0.356398	0.04338	T	-0.325251	0.41995	T	0.0798911059060752	0.09973	T	0.835916	0.68343	T	0.1474894	0.33714	0.12688965	0.30554	0.1474894	0.33714	0.12688965	0.30553	-7.623	0.58471	D	.	.	0.171	0.53732	B	.;.;.	.;.;.	2.519384	0.32554	19.08	0.99643037904481713	0.76819	0.85317	0.44438	D	AEFGBCI	0.563104	0.57043	D	0.162396918902155	0.49400	3.140874	0.166688644394583	0.48034	3.024817	0.999518947924188	0.40117	0.706548	0.73137	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	4.800000	0.62218	1.698000	0.28113	0.676000	0.76740	1.000000	0.71638	0.962000	0.29361	0.304000	0.24594	0.0:0.0:0.8128:0.1872	10.937	0.46465	964	0.07719	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1297.43	35	chr15	88881639	.	G	T	1297.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=438;ExcessHet=0;FS=2.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.66;SOR=0.96	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1309,0,1132	9	0	1	0
chr15	89649753	89649753	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon3:c.C517T:p.R173C	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	874303	Inborn_genetic_diseases|Acrocallosal_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.362	0.129107866984	.	0.000199681	.	.	.	.	.	.	.	.	3.23e-05	5	154602	rs559797970	4.787e-05	4.652e-05	6.204e-05	3.332e-05	0.0003	3.824e-05	3.496e-05	0.0002	0.0001	3.165e-05	0.0003	0	0	0	0	4.541e-05	8.614e-05	1.262e-05	5.252e-05	5.249e-05	8.993e-05	1.343e-05	0.0002	2.555e-05	1.829e-05	5.279e-05	2.833e-05	0	0	0.0002	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.959	0.55135	D	0.541	0.48869	P	.	.	.	.	0.998428	0.44899	D	0.7	0.18542	N	-0.95	0.75438	T	-5.37	0.84882	D	0.305	0.34444	-0.4030	0.71932	T	0.317	0.68664	T	9	0.23526523	0.40583	T	0.129108	0.81112	D	0.362	0.68230	0.389	0.41115	0.690216922574	0.68755	0.3579632645537181	0.35710	0.108650998796	0.12253	0.45886811614	0.33154	T	0.637011	0.88821	D	-0.233604	0.16174	T	-0.243331	0.50472	T	0.443037986755371	0.30541	T	0.968903	0.88767	D	0.30191267	0.53075	0.38878915	0.63714	0.30191267	0.53075	0.38878915	0.63714	-10.177	0.74964	D	0.12962200931456164	0.13557	0.119	0.24532	B	.	.	5.760676	0.93429	33	0.99874718941040785	0.95160	0.94477	0.61292	D	AEFDBI	0.798046	0.72471	D	0.216529630042066	0.51999	3.377092	0.140528967425249	0.46643	2.906944	0.99999887497623	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.0	4.0	0.45673	5.708000	0.68030	8.184000	0.76782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:0.5436:0.4563	10.282	0.42726	843	0.36859	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2005.43	37	chr15	89649753	.	G	A	2005.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.902;SOR=0.701	GT:AD:DP:GQ:PL	0/1:50,75:125:99:2017,0,1072	9	0	1	0
chr15	90067285	90067285	G	C	exonic	ZNF710	.	nonsynonymous SNV	ZNF710:NM_198526:exon2:c.G148C:p.E50Q	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	0.0004	0.000998403	0.0024	0.0001	0.0012	0	0	0.0005	0.0043	0.0130	0.0016494	255	154602	rs144139243	0.0011	0.0011	0.0007	0.0015	0.0128	0.0011	0.0010	0.0121	0.0119	2.99e-05	0.0008	0.0006	0	0	0.0040	0.0003	0.0012	0.0128	0.0006	0.0006	0.0003	0.0009	0.0120	0.0005	0.0005	0.0095	0.0087	2.406e-05	0	0.0003	0.0003	0	0	0	0.0004	0.0009	0.0120	0.0	0.91255	D	0.054	0.47097	T	0.0	0.02946	B	0.001	0.04355	B	0.000669	0.00662	N	3.731900	0.988049	0.24453	N	1.59	0.40313	L	2.78	0.11298	T	-0.32	0.43524	N	0.405	0.44570	-0.9569	0.39753	T	0.029	0.12673	T	10	0.006815791	0.00155	T	.	.	.	0.249	0.55752	.	.	0.68240868135	0.67970	0.35619339743345924	0.35533	0.933340578785	0.71929	0.622464299202	0.56077	T	0.030723	0.21710	T	-0.417021	0.01787	T	-0.361411	0.37888	T	0.0892662350549347	0.11129	T	0.70043	0.31914	T	0.25876254	0.48926	0.17242488	0.39496	0.25876254	0.48926	0.17242488	0.39495	-4.688	0.33258	T	.	.	0.115	0.23148	B	.;.	.;.	2.848090	0.37596	20.5	0.9953706555589058	0.70274	0.89575	0.50127	D	AEFDBI	0.220690	0.34541	N	-0.309152868792112	0.28799	1.591547	-0.171832462104759	0.32577	1.854842	0.999994401731904	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.96	4.03	0.46115	3.807000	0.55295	9.365000	0.80404	0.676000	0.76740	0.840000	0.30285	1.000000	0.68203	0.158000	0.20581	0.0:0.1518:0.8482:0.0	14.1	0.64576	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007078	0.005102	0.002732	0.002924	0.000000	0.008621	0.021605	0.011364	0.05	909.43	35	chr15	90067285	.	G	C	909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.051;DP=419;ExcessHet=0;FS=2.624;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.624;SOR=0.625	GT:AD:DP:GQ:PL	0/1:65,40:105:99:921,0,1722	9	0	1	0
chr15	90360750	90360750	A	G	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.A919G:p.I307V	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00367150201203	0.0035	0.00179712	0.0041	0.0013	0.0017	0	0.0035	0.0052	0.0078	0.0052	0.0038421	594	154602	rs150500921	0.0047	0.0047	0.0045	0.0048	0.0059	0.0046	0.0045	0.0048	0.0047	0.0008	0.0017	0.0107	5.038e-05	0.0043	0.0059	0.0049	0.0050	0.0051	0.0032	0.0032	0.0035	0.0028	0.0049	0.0029	0.0029	0.0045	0.0043	0.0013	0	0.0016	0.0078	0	0.0026	0	0.0049	0.0033	0.0017	0.171	0.22746	T	0.385	0.15746	T	0.0	0.02946	B	0.002	0.06944	B	0.680832	0.10260	N	0.778107	1	0.08975	N	-1.03	0.01126	N	2.02	0.21119	T	-0.29	0.11728	N	0.014	0.00160	-0.9614	0.38916	T	0.016	0.06711	T	10	0.0029374063	0.00047	T	0.003672	0.08464	T	0.027	0.05988	.	.	0.186928172975	0.18263	0.020037791574456967	0.01956	0.0372404759166	0.03946	0.315446823835	0.12731	T	0.002856	0.02248	T	-0.682725	0.00046	T	-0.750435	0.03468	T	0.00263947290263791	0.00028	T	0.362364	0.08382	T	0.03160436	0.03031	0.034833886	0.02622	0.03160436	0.03031	0.034833886	0.02621	-4.155	0.26097	T	.	.	0.174	0.38117	B	.	.	1.261285	0.16590	12.64	0.77924712142657915	0.12081	0.18813	0.20413	N	AEFDBCI	0.099355	0.20002	N	-1.13139518893426	0.06091	0.2794934	-1.1449639417494	0.06859	0.3315951	0.197770893749221	0.18083	0.651	0.46895	0	0.601575	0.49859	0	0.608075	0.38828	0	0.683762	0.67416	0	.	.	5.64	-5.16	0.02640	1.008000	0.29475	-0.611000	0.08222	0.731000	0.85647	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1853:0.395:0.4197:0.0	7.812	0.28399	889	0.27310	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	0.007553	0.000000	0.008152	0.002924	0.000000	0.008621	0.015244	0.000000	0.05	1714.43	40	chr15	90360750	.	A	G	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=489;ExcessHet=0;FS=3.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.62;SOR=0.658	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1726,0,1536	9	0	1	0
chr15	99105996	99105996	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon1:c.C797T:p.A266V,SYNM:NM_145728:exon1:c.C797T:p.A266V	.	433	1054	34	1	0	36	0.016791	.	.	.	2814521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.210	.	.	0.00179712	0.0107	0.0128	0	0	.	0.0205	0	0.0084	0.0011837	183	154602	rs140039713	0.0042	0.0040	0.0041	0.0044	0.0254	0.0042	0.0041	0.0214	0.0198	0.0010	0.0027	0.0088	0	3.045e-05	0.0254	0.0045	0.0058	0.0023	0.0034	0.0034	0.0036	0.0032	0.0053	0.0032	0.0031	0.0049	0.0047	0.0008	0.0033	0.0026	0.0086	0	9.414e-05	0.0582	0.0053	0.0076	0.0031	.	.	.	0.693	0.11227	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.3	0.87671	D	.	.	.	0.147	0.14905	-0.7512	0.57873	T	0.366	0.72674	T	8	0.0059403777	0.00133	T	.	.	.	0.210	0.50028	.	.	0.608695890411	0.60555	0.15703722032440537	0.15624	0.164404388501	0.18549	0.568288564682	0.48436	T	0.357462	0.72416	T	-0.403691	0.02189	T	-0.350316	0.39169	T	0.000385331368306652	0.00003	T	0.655434	0.26547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.24226	B	.;.;.	.;.;.	0.560857	0.09292	6.076	0.86299269780693555	0.16443	0.01006	0.03801	N	ALL	0.029300	0.02741	N	-0.968004810163419	0.09292	0.4392135	-1.03983584467923	0.08919	0.4410133	0.999999987410824	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.46	-0.263	0.12314	0.034000	0.13663	0.487000	0.18863	0.518000	0.23583	0.000000	0.06391	0.070000	0.22201	0.062000	0.16114	0.0:0.2995:0.0:0.7004	7.176	0.24924	982	0.03397	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031592	0.033333	0.018272	0.066667	0.000000	0.074468	0.034091	0.004274	0.05	399.43	36	chr15	99105996	.	C	T	399.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-1.074;SOR=0.582	GT:AD:DP:GQ:PL	0/1:28,19:47:99:411,0,610	9	0	1	0
chr16	1344049	1344049	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon15:c.G1306A:p.A436T,BAIAP3:NM_001199097:exon16:c.G1414A:p.A472T,BAIAP3:NM_001199098:exon16:c.G1345A:p.A449T,BAIAP3:NM_001199099:exon16:c.G1330A:p.A444T,BAIAP3:NM_001286464:exon16:c.G1465A:p.A489T,BAIAP3:NM_003933:exon16:c.G1519A:p.A507T	.	424	1097	1	0	0	1	0.000455581	.	.	.	3933766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0951917114744	.	.	8.365e-06	0	0	0	0	1.531e-05	0	0	6.5e-06	1	154602	rs770815658	7.534e-06	7.524e-06	8.178e-06	6.883e-06	0.0002	4.04e-06	2.96e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	4.97e-05	1.159e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.159	0.26192	T	0.153	0.32675	T	0.778	0.44187	P	0.135	0.33210	B	0.066604	0.21799	N	0.484750	0.999977	0.18612	N	1.5	0.37844	L	-0.52	0.70950	T	-1.07	0.27876	N	0.448	0.55886	-0.8969	0.48302	T	0.160	0.49463	T	10	0.21268666	0.37736	T	0.095192	0.76385	D	0.063	0.18251	0.303	0.27164	0.854867278556	0.85346	0.09516593173868977	0.09448	0.443763254566	0.44302	0.486193656921	0.36911	T	0.018975	0.15199	T	-0.191022	0.22108	T	-0.415312	0.31613	T	0.186154184275336	0.19615	T	0.870213	0.58632	D	0.043325372	0.06732	0.042180046	0.04966	0.043325372	0.06731	0.042180046	0.04966	-4.242	0.27355	T	.	.	0.091	0.14751	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.061898	0.41119	21.3	0.9955816075065298	0.71583	0.19997	0.20876	N	AEFDGBCI	0.078424	0.15822	N	-0.121195540874106	0.36470	2.108509	-0.10924691594566	0.35017	2.020895	0.999991437958048	0.74766	0.740716	0.97744	0	0.550933	0.16991	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	4.21	2.01	0.25568	-0.041000	0.12036	6.252000	0.55326	0.614000	0.49286	0.000000	0.06391	1.000000	0.68203	0.954000	0.50415	0.1112:0.1709:0.5183:0.1996	2.402	0.04135	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1175.43	35	chr16	1344049	.	G	A	1175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.052;DP=399;ExcessHet=0;FS=4.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.832;SOR=0.337	GT:AD:DP:GQ:PL	0/1:30,51:81:99:1187,0,618	9	0	1	0
chr16	1347331	1347331	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon28:c.G2677A:p.G893S,BAIAP3:NM_001199097:exon29:c.G2785A:p.G929S,BAIAP3:NM_001199098:exon29:c.G2716A:p.G906S,BAIAP3:NM_001199099:exon29:c.G2701A:p.G901S,BAIAP3:NM_001286464:exon29:c.G2836A:p.G946S,BAIAP3:NM_003933:exon29:c.G2890A:p.G964S	.	.	.	.	.	.	.	.	.	.	.	2362133	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.884	0.622253970382	.	.	9.268e-05	0	0	0	0.0003	9.208e-05	0	0.0002	9.06e-05	14	154602	rs201823456	7.46e-05	7.456e-05	7.762e-05	7.154e-05	8.543e-05	6.318e-05	5.875e-05	7.135e-05	6.626e-05	2.987e-05	0	0	0	7.549e-05	0	8.543e-05	4.97e-05	6.958e-05	9.198e-05	9.193e-05	0.0001	5.38e-05	8.82e-05	5.527e-05	4.364e-05	3.762e-05	2.575e-05	7.237e-05	0	0	0	0	0.0005	0	8.82e-05	0	0	0.006	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	-3.65	0.95179	D	-5.72	0.87531	D	0.842	0.83781	1.050	0.98115	D	0.917	0.97247	D	10	0.9724428	0.96888	D	0.622254	0.96733	D	0.884	0.96614	.	.	0.95704846277	0.95659	0.7402361093434459	0.73968	0.463648763095	0.45864	0.518571555614	0.41424	T	0.315097	0.68672	T	0.20804	0.74645	D	0.263712	0.86269	D	0.898829996585846	0.55100	D	0.915608	0.71813	D	0.6605093	0.75926	0.45643425	0.68406	0.6605093	0.75927	0.45643425	0.68406	-9.041	0.68254	D	.	.	0.458	0.72799	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.481615	0.69927	25.4	0.9970227808883132	0.80729	0.95305	0.64205	D	AEFGBCI	0.805992	0.73043	D	0.700716590308555	0.79678	7.128921	0.595030915221587	0.74581	6.161698	0.999999999991997	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.596874	0.31795	0	0.645665	0.59343	0	.	.	5.08	5.08	0.68373	4.516000	0.60214	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:0.0:1.0:0.0	15.942	0.79546	862	0.33134	.;.;.;.;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, 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	.	.	.	.	.	.	.	.	0.05	807.43	34	chr16	1347331	.	G	A	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.933;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.17;SOR=0.678	GT:AD:DP:GQ:PL	0/1:30,32:62:99:819,0,696	9	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,58:69:99:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:1939,0,271:1397263	2	1	6	1
chr16	2110952	2110952	C	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4215T:p.W1405C,PKD1:NM_001009944:exon15:c.G4215T:p.W1405C	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.884642924269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.177	0.22224	T	0.014	0.62352	D	0.99	0.63424	D	0.932	0.66722	D	0.047033	0.23382	N	0.431306	0.99987	0.50225	D	2.56	0.74772	M	0.04	0.62051	T	-2.39	0.53736	N	0.535	0.56317	-0.5142	0.68132	T	0.323	0.69203	T	10	0.83969843	0.83124	D	0.884643	0.99123	D	0.383	0.70029	0.583	0.70990	0.879645761722	0.87847	0.5873094326380622	0.58660	.	.	0.44514593482	0.31281	T	0.384454	0.74607	T	-0.0191068	0.48980	T	-0.265222	0.48302	T	0.84954959154129	0.50126	D	0.833117	0.50161	T	0.18850547	0.40352	0.1145801	0.27658	0.18850547	0.40351	0.1145801	0.27657	-7.771	0.59499	D	0.2630452667026752	0.35492	0.478	0.63566	A	.;.	.;.	2.887356	0.38231	20.7	0.90992644276553036	0.20242	0.84004	0.43091	D	AEFBI	0.295865	0.40586	N	0.409682435141623	0.61953	4.40373	0.345952602632838	0.58265	3.995991	9.79808752519793E-4	0.08079	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.58	4.61	0.56724	1.682000	0.37245	3.447000	0.38420	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.1194:0.6378:0.1626:0.0801	6.146	0.19499	650	0.62973	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2103.43	34	chr16	2110952	.	C	A	2103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.35;DP=601;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.47;MQRankSum=-0.818;QD=14.92;ReadPosRankSum=1.5;SOR=0.82	GT:AD:DP:GQ:PL	0/1:63,78:141:99:2115,0,1824	9	0	1	0
chr16	2180810	2180810	G	C	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2558G:p.P853R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.13010257827	.	0.000399361	0.0058	0.0076	0.0078	0	0	0.0072	0	0	0.0004981	77	154602	rs577114353	0.0012	0.0011	0.0011	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0002	0.0001	0	0	0.0003	0	0.0013	0.0008	0.0021	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0019	0.0015	0.0003	0	0	0	0.0002	9.411e-05	0	0.0016	0.0005	0.0031	0.055	0.38407	T	0.027	0.55341	D	0.93	0.51791	P	0.368	0.43478	B	.	.	.	.	1	0.08975	N	0.6	0.15550	N	-0.25	0.67011	T	-2.68	0.57275	D	0.34	0.38129	-0.9303	0.44095	T	0.164	0.50111	T	9	0.00915426	0.00207	T	0.130103	0.81223	D	0.085	0.24743	.	.	0.627131829	0.62409	0.09395887302591188	0.09327	0.447694606286	0.44630	0.70604544878	0.68020	T	0.123455	0.44783	T	-0.437193	0.01343	T	-0.406632	0.32614	T	0.0566786183315595	0.06636	T	0.662434	0.27137	T	0.08255443	0.19022	0.10671114	0.25676	0.08255443	0.19022	0.10671114	0.25675	-5.418	0.41092	T	.	.	0.105	0.19438	B	.	.	1.550498	0.19873	14.48	0.69846067440724524	0.09103	0.13929	0.18130	N	AEFBCI	0.118335	0.23143	N	-0.413561069388986	0.24993	1.353517	-0.552837168037912	0.20731	1.118239	0.0195124721877883	0.13169	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.14	3.14	0.35196	3.057000	0.49624	4.183000	0.42351	0.654000	0.53741	0.832000	0.30162	1.000000	0.68203	0.073000	0.16832	0.2632:0.0:0.7368:0.0	4.962	0.13421	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	927.43	34	chr16	2180810	.	G	C	927.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.927;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.027;SOR=0.752	GT:AD:DP:GQ:PL	0/1:18,37:55:99:939,0,433	9	0	1	0
chr16	2771486	2771486	G	A	exonic	ELOB	.	nonsynonymous SNV	ELOB:NM_207013:exon5:c.C472T:p.R158C	.	0	225	1	0	0	1	0.00221729	.	.	.	3248660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00118572737235	0.0005	0.000199681	0.0002	0.0010	8.637e-05	0	0	0.0001	0	0	0.0001294	20	154602	rs185064686	5.472e-05	5.472e-05	5.853e-05	5.088e-05	0.0007	4.477e-05	4.147e-05	0.0004	0.0004	0.0007	0	0	2.519e-05	0	0.0005	4.047e-05	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	6.532e-05	0	0.0002	0	0	5.879e-05	0	0.0004	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.11	0.08653	N	0.135	0.13198	-1.0494	0.14565	T	0.039	0.16806	T	8	0.015712589	0.00330	T	0.001186	0.01509	T	0.033	0.08068	.	.	0.43126412278	0.42743	0.11519685156694955	0.11447	0.289996122926	0.31404	0.210932984948	0.00852	T	.	.	.	-0.540556	0.00332	T	-0.625953	0.10723	T	0.0192816139550935	0.00634	T	0.49705	0.15447	T	.	.	.	.	.	.	.	.	-3.631	0.18306	T	.	.	0.110	0.21353	B	.	.	0.411213	0.07823	4.514	0.80116847041822736	0.13052	0.14918	0.18652	N	AEFDGBCI	0.063971	0.12395	N	-1.45611208034775	0.02169	0.09548454	-1.57002755470778	0.01841	0.08390163	0.999999962097885	0.74766	0.67177	0.52595	0	0.552637	0.17590	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	1.47	-2.94	0.05245	0.159000	0.16258	1.107000	0.24123	-0.176000	0.10722	0.000000	0.06391	0.088000	0.22492	0.014000	0.10232	0.1653:0.5949:0.2398:0.0	5.784	0.17585	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1243.43	35	chr16	2771486	.	G	A	1243.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=442;ExcessHet=0;FS=3.253;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.326;SOR=0.988	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1255,0,1523	9	0	1	0
chr16	10906969	10906969	C	T	exonic	CIITA	.	nonsynonymous SNV	CIITA:NM_001379330:exon10:c.C1333T:p.R445C,CIITA:NM_001379331:exon10:c.C1330T:p.R444C,CIITA:NM_000246:exon11:c.C1477T:p.R493C,CIITA:NM_001286402:exon11:c.C1480T:p.R494C,CIITA:NM_001379332:exon11:c.C1480T:p.R494C,CIITA:NM_001379333:exon11:c.C1477T:p.R493C,CIITA:NM_001379334:exon11:c.C1408T:p.R470C	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	0	1521	0	1	0	2	0.00065703	.	.	.	1921072	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.536	0.37938819418	.	.	8.431e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs751075993	2.534e-05	2.531e-05	2.181e-05	2.891e-05	3.058e-05	1.87e-05	1.633e-05	2.201e-05	1.942e-05	2.988e-05	0	0	0	0	0	3.058e-05	3.312e-05	0	4.602e-05	4.597e-05	6.425e-05	2.692e-05	0.0001	2.11e-05	1.527e-05	2.261e-05	1.032e-05	7.241e-05	0	0.0001	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.001149	0.40056	N	0.112108	0.999999	0.21979	N	.	.	.	-1.78	0.83737	D	-5.45	0.85468	D	0.681	0.68777	0.093	0.84044	D	0.724	0.90557	D	10	0.9567603	0.95045	D	0.379388	0.92935	D	0.536	0.80545	0.735	0.86806	0.925541609963	0.92478	0.6894979034013161	0.68889	0.676677899647	0.59787	0.469860851765	0.34660	T	.	.	.	0.0688807	0.60712	T	0.0433128	0.73144	D	0.917845249176025	0.57585	D	0.945505	0.79230	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47228	B	.;.	.;.	4.420809	0.68469	25.2	0.99854679970723459	0.93368	0.57630	0.30427	D	AEFDBCI	0.466887	0.51435	N	0.445472636561559	0.63948	4.638595	0.282226253384499	0.54500	3.614966	0.999899548886444	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	2.842000	0.47931	.	.	0.599000	0.40250	0.971000	0.34370	1.000000	0.68203	0.016000	0.10718	0.2822:0.7178:0.0:0.0	11.437	0.49318	964	0.07719	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	4098.43	45	chr16	10906969	.	C	T	4098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=691;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.245;SOR=0.744	GT:AD:DP:GQ:PL	0/1:169,167:336:99:4110,0,3758	9	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	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:92,48:179:99:106,0,1360	0	0	10	0
chr16	14629657	14629657	G	A	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon2:c.C37T:p.H13Y,PARN:NM_002582:exon2:c.C37T:p.H13Y	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	419	1102	1	0	0	1	0.000453515	.	.	.	1908711	Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|Dyskeratosis_congenita,_autosomal_recessive_6	MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00588638341977	.	.	1.658e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756570032	2.054e-06	2.736e-06	1.363e-06	2.752e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	9.003e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.38633	T	0.028	0.54934	D	0.404	0.34945	B	0.313	0.41496	B	0.072608	0.21398	N	0.536779	1	0.81001	D	0	0.06538	N	1.97	0.22067	T	-0.96	0.35597	N	0.422	0.48596	-1.0424	0.16592	T	0.032	0.13592	T	10	0.2158114	0.38144	T	0.005886	0.15310	T	0.098	0.28162	0.596	0.72617	0.273070737957	0.26916	0.24208805182910598	0.24122	0.167012034591	0.18835	0.52680516243	0.42585	T	0.042187	0.26101	T	-0.257782	0.13161	T	-0.432215	0.29685	T	0.351652480535502	0.27084	T	0.920408	0.71398	D	0.39358017	0.60285	0.4398452	0.67323	0.39358017	0.60285	0.4398452	0.67323	-10.744	0.78235	D	.	.	0.087	0.20702	B	.;.;.;.	.;.;.;.	4.549235	0.71574	25.7	0.9680664640886143	0.31172	0.89018	0.49238	D	AEFDBHCI	0.618764	0.60445	D	0.106328015982652	0.46757	2.91129	0.269645546496012	0.53774	3.544846	0.999999998073154	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.36	4.34	0.51267	4.322000	0.59005	9.456000	0.80855	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7666:0.2333	12.931	0.57681	699	0.57969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1072.43	33	chr16	14629657	.	G	A	1072.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=414;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.576;SOR=0.893	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1084,0,881	9	0	1	0
chr16	15363771	15363771	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C941A:p.T314N	.	475	1024	12	0	11	23	0.00582524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.114018	0.0009	0.0011	0.0014	0	0.0012	0.0011	0	0.0003	0.0039391	609	154602	rs200515084	0.0020	0.0054	0.0018	0.0022	0.0072	0.0019	0.0019	0.0066	0.0063	0.0014	0.0052	0.0026	0.0050	0.0060	0.0033	0.0014	0.0026	0.0072	0.0008	0.0027	0.0010	0.0006	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0011	0.0006	0	0.0005	0	0.0008	0	0	0.285	0.15251	T	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.85	0.47130	T	-2.07	0.47344	N	0.108	0.09349	-1.0053	0.28368	T	0.093	0.35309	T	4	0.0035369694	0.00063	T	.	.	.	0.007	0.00512	.	.	0.110392049598	0.10638	0.007541486687279335	0.00720	1.79356630944	0.91544	.	.	.	0.013126	0.11410	T	-0.27517	0.11187	T	-0.633039	0.10185	T	0.00805360874408913	0.00095	T	0.210079	0.02530	T	0.12149424	0.28567	0.11801673	0.28489	0.12149424	0.28567	0.11801673	0.28489	-7.548	0.57947	D	.	.	0.159	0.35225	B	.	.	-0.040532	0.04009	0.916	0.70897096200238796	0.09447	0.00197	0.01136	N	AEFDI	0.038230	0.05380	N	-0.517686941128063	0.21508	1.141931	-0.658970331887041	0.17990	0.959092	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.271000	0.02936	-4.566000	0.02092	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	674.46	197	chr16	15363771	.	G	T	674.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.3;DP=1196;ExcessHet=0;FS=6.176;InbreedingCoeff=-0.0417;MLEAC=2;MLEAF=0.2;MQ=55.93;MQRankSum=-6.136;QD=6.49;ReadPosRankSum=-4.012;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,24:104:99:1|0:15363741_G_A:682,0,3287:15363741	4	0	1	5
chr16	15363772	15363772	T	A	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.A940T:p.T314S	.	474	1026	11	0	11	22	0.00533204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.114018	0.0010	0.0012	0.0015	0	0.0014	0.0013	0	0.0003	0.0040103	620	154602	rs201420102	0.0022	0.0055	0.0019	0.0024	0.0076	0.0021	0.0021	0.0069	0.0067	0.0016	0.0055	0.0030	0.0058	0.0072	0.0037	0.0016	0.0029	0.0076	0.0015	0.0041	0.0018	0.0012	0.0019	0.0012	0.0011	0.0013	0.0011	0.0018	0	0.0019	0.0009	0.0016	0.0020	0	0.0013	0	0	0.605	0.05551	T	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.89	0.45636	T	-1.17	0.29933	N	0.095	0.07535	-1.0213	0.23292	T	0.045	0.19152	T	4	0.0033916235	0.00059	T	.	.	.	0.010	0.01040	0.359	0.36222	0.082315109003	0.07666	0.008228124236654345	0.00787	1.27143699399	0.82279	.	.	.	0.010788	0.09704	T	-0.310364	0.07716	T	-0.683593	0.06767	T	0.0049955497737032	0.00054	T	0.140186	0.01129	T	0.08519536	0.19751	0.07435097	0.16256	0.08519536	0.19751	0.07435097	0.16256	-6.997	0.54012	T	.	.	0.177	0.38587	B	.	.	0.030263	0.04496	1.203	0.36374483596762708	0.02336	0.00068	0.00484	N	AEFDI	0.035273	0.04511	N	-0.712332701270957	0.15675	0.7920261	-0.811466716692036	0.14218	0.7417643	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-1.435000	0.02529	-3.306000	0.02890	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	734.46	197	chr16	15363772	.	T	A	734.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.55;DP=1197;ExcessHet=0;FS=7.701;InbreedingCoeff=-0.0417;MLEAC=2;MLEAF=0.2;MQ=55.78;MQRankSum=-6.197;QD=6.86;ReadPosRankSum=-4.396;SOR=1.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,26:107:99:1|0:15363741_G_A:742,0,3312:15363741	4	0	1	5
chr16	18872498	18872498	T	A	exonic	SMG1	.	nonsynonymous SNV	SMG1:NM_015092:exon14:c.A2017T:p.T673S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0171625547835	.	.	6.013e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs746044372	7.915e-06	8.209e-06	7.129e-06	8.716e-06	1.01e-05	4.25e-06	3.11e-06	5.42e-06	3.96e-06	0	0	0	0	0	0	1.01e-05	0	0	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.886	0.45393	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.000108	0.50451	D	0.073775	0.945124	0.37475	D	0.72	0.18721	N	-0.07	0.63738	T	0.23	0.48184	N	0.152	0.15609	-0.9792	0.35186	T	0.100	0.37060	T	10	0.13971007	0.26562	T	0.017163	0.38744	T	0.084	0.24469	0.179	0.08626	0.368394457434	0.36455	0.1502858191973894	0.14950	0.404479960901	0.41350	0.579424142838	0.50004	T	0.019	0.15156	T	-0.0808285	0.39581	T	-0.353881	0.38760	T	0.396940797567368	0.28827	T	0.780122	0.41468	T	0.2329623	0.46093	0.13800576	0.32971	0.2329623	0.46093	0.13800576	0.32970	-2.982	0.09988	T	.	.	0.119	0.24363	B	.;.	.;.	2.912572	0.38636	20.8	0.82223544045907015	0.14081	0.91392	0.53441	D	AEFBI	0.563069	0.57041	D	-0.290331366540625	0.29521	1.637803	-0.0232135301993697	0.38668	2.281512	0.570052790126873	0.21485	0.651	0.46895	0	0.653731	0.59785	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	5.63	5.63	0.86108	6.183000	0.71936	7.910000	0.73981	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.138:0.0:0.0:0.862	11.876	0.51829	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	422.43	38	chr16	18872498	.	T	A	422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.76;DP=307;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.19;MQRankSum=0.056;QD=12.42;ReadPosRankSum=-0.175;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,20:34:99:434,0,324	9	0	1	0
chr16	20384837	20384837	T	C	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon3:c.A217G:p.K73E	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00316943343908	0.0002	.	0.0002	0	0	0	0	0.0002	0.0011	0.0007	0.0001488	23	154602	rs146719463	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	2.987e-05	4.472e-05	0	0	0	0.0023	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	9.4e-05	0.0008	7.086e-05	5.744e-05	0.0003	0.0002	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.019	0.50132	D	0.163	0.31125	T	0.959	0.55135	D	0.718	0.54779	P	0.003305	0.35125	N	0.313542	1	0.08975	N	1.61	0.41143	L	4.0	0.13434	T	-0.67	0.19297	N	0.301	0.34012	-1.0492	0.14621	T	0.018	0.07612	T	10	0.044784635	0.03475	T	0.003169	0.06936	T	0.089	0.25827	.	.	0.256283259241	0.25257	0.45274535624881207	0.45192	0.157787249233	0.17821	0.430652797222	0.29297	T	5.49E-4	0.24567	T	-0.383534	0.02959	T	-0.424533	0.30557	T	0.0700232070453048	0.08654	T	0.60154	0.22486	T	0.20148239	0.42160	0.28050655	0.54026	0.20148239	0.42160	0.28050655	0.54025	-2.669	0.07046	T	.	.	0.117	0.43855	B	.;.	.;.	2.467791	0.31802	18.85	0.9959052626606284	0.73572	0.05012	0.10790	N	AEFBI	0.050375	0.08799	N	-0.173012869334018	0.34262	1.953457	-0.320193573005895	0.27446	1.523074	0.637372319325609	0.22022	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.17	0.35510	0.996000	0.29320	1.788000	0.28774	0.665000	0.62972	0.135000	0.23427	0.989000	0.31174	0.833000	0.39279	0.0:0.1758:0.0:0.8242	7.110	0.24561	809	0.43032	Thioredoxin 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	0.008621	0.000000	0.000000	0.05	930.43	41	chr16	20384837	.	T	C	930.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=405;ExcessHet=0;FS=0.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.7;SOR=0.795	GT:AD:DP:GQ:PL	0/1:51,37:88:99:942,0,1318	9	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	306.67	2	chr16	21404235	.	GC	G	306.67	.	AC=6;AF=1;AN=6;DP=22;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=28.94;QD=30.22;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0	0	3	0	7
chr16	23069332	23069332	G	C	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon16:c.C2773G:p.P925A	.	425	1062	33	2	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.000998403	0.0024	9.641e-05	0.0003	0	0	0.0010	0.0023	0.0158	0.0022121	342	154602	rs141634001	0.0013	0.0014	0.0009	0.0018	0.0140	0.0013	0.0013	0.0133	0.0131	6.028e-05	0.0002	0.0003	2.528e-05	7.542e-05	0.0081	0.0006	0.0014	0.0140	0.0011	0.0011	0.0011	0.0010	0.0118	0.0009	0.0009	0.0094	0.0085	9.619e-05	0.0351	0.0001	0.0006	0	9.423e-05	0.0102	0.0008	0.0014	0.0118	0.135	0.26192	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.218837	0.03439	N	1.754940	1	0.08975	N	1.7	0.43825	L	3.18	0.23884	T	-0.29	0.11728	N	0.053	0.14480	-0.9923	0.32012	T	0.021	0.08778	T	10	0.0021762252	0.00031	T	.	.	.	0.052	0.14661	.	.	0.407632638399	0.40377	0.1907764888670964	0.18995	0.22218228433	0.24755	0.25538033247	0.04355	T	0.007357	0.06771	T	-0.66129	0.00062	T	-0.710997	0.05244	T	0.0182750649148329	0.00546	T	0.645735	0.25721	T	0.041194297	0.06020	0.048098188	0.07073	0.041194297	0.06020	0.048098188	0.07073	-3.268	0.13328	T	.	.	0.060	0.01328	B	.;.	.;.	0.157530	0.05486	1.952	0.89360694669253948	0.18730	0.17158	0.19715	N	AEFDBI	0.082197	0.16642	N	-0.761764257807194	0.14315	0.7121154	-0.84167176139048	0.13488	0.6999429	0.997918275805011	0.36186	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	6.16	-3.78	0.04049	0.118000	0.15436	0.478000	0.18778	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.966000	0.53164	0.2567:0.4476:0.2957:0.0	8.026	0.29599	437	0.80299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.015152	0.05	1944.43	40	chr16	23069332	.	G	C	1944.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=540;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.339;SOR=0.831	GT:AD:DP:GQ:PL	0/1:95,78:173:99:1956,0,2397	9	0	1	0
chr16	29382999	29382999	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1933G:p.P645A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0211419618282	.	.	8.583e-06	0	0	0	0	1.566e-05	0	0	3.84e-05	1	26028	rs756879841	1.028e-05	1.026e-05	1.227e-05	8.265e-06	1.349e-05	6.17e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	2.066e-05	9.886e-05	1.341e-05	2.833e-05	1.516e-05	5.49e-06	2.52e-06	.	.	0	0	0	0.0006	0	0	0	1.516e-05	0	0	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.72	0.26588	T	-0.91	0.24460	N	0.091	0.06990	-1.0086	0.27354	T	0.043	0.18326	T	4	0.087445915	0.14963	T	0.021142	0.43862	T	0.031	0.07369	0.338	0.32816	0.139678290688	0.13603	0.0010482649143814852	0.00096	.	.	.	.	.	0.011047	0.09905	T	-0.251301	0.13939	T	-0.598753	0.12915	T	0.0998966606523281	0.12346	T	0.514049	0.16524	T	0.08446088	0.19549	0.13631544	0.32614	0.08446088	0.19549	0.13631544	0.32613	-10.044	0.74175	D	.	.	0.551	0.66812	A	.	.	0.947988	0.13241	9.741	0.91839566063827771	0.21150	0.00090	0.00598	N	AEFDIJ	0.023317	0.01283	N	-0.570147359918371	0.19857	1.042493	-0.707427910388993	0.16775	0.8890332	1.09648973830877E-6	0.01202	0.722319	0.85440	0	0.698795	0.70079	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	0.189000	0.16845	-1.114000	0.06289	0.190000	0.17853	0.025000	0.20085	0.000000	0.08366	0.026000	0.12556	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2261.43	33	chr16	29382999	.	G	C	2261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.3;DP=488;ExcessHet=0;FS=5.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.58;MQRankSum=-5.234;QD=16.63;ReadPosRankSum=-0.436;SOR=1.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,61:136:99:0|1:29382999_G_C:2273,0,2926:29382999	9	0	1	0
chr16	29383022	29383022	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1910C:p.R637P	.	537	983	2	0	0	2	0.00101626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00137807169732	.	0.00159744	0.0008	0.0003	0.0007	0.0024	0	0.0009	0	0.0002	0.0006662	103	154602	rs573087265	6.601e-05	7.329e-05	4.784e-05	8.439e-05	0.0002	5.523e-05	5.133e-05	0.0001	8.802e-05	2.997e-05	2.242e-05	0	0.0002	0	0	6.487e-05	0.0002	2.401e-05	0.0003	0.0008	0.0003	0.0003	0.0029	0.0002	0.0002	0.0017	0.0013	0.0003	0	0.0003	0	0.0029	0	0	0.0002	0	0.0002	0.291	0.14945	T	0.321	0.19073	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	1.04	0.26193	L	2.41	0.15492	T	0.71	0.02130	N	0.141	0.14054	-0.9718	0.36819	T	0.025	0.10777	T	5	0.008448452	0.00192	T	0.001378	0.02011	T	0.007	0.00512	0.35	0.34760	0.170165803431	0.16609	0.038846008794788535	0.03830	.	.	.	.	.	0.004596	0.03998	T	-0.486403	0.00680	T	-0.753693	0.03344	T	0.0267502387412079	0.01509	T	0.393061	0.09795	T	0.17190467	0.37851	0.22630191	0.47603	0.17190467	0.37851	0.22630191	0.47602	0.947	0.00139	T	.	.	0.340	0.55903	B	.	.	0.928524	0.13039	9.541	0.49463438770195678	0.04214	0.00214	0.01215	N	AEFDI	0.078068	0.15743	N	-0.918703182555413	0.10404	0.4970577	-1.11952203456524	0.07328	0.3559979	7.73979907486865E-6	0.01202	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.993000	0.04377	-2.014000	0.00440	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2971.43	33	chr16	29383022	.	C	G	2971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.254;DP=536;ExcessHet=0;FS=6.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.16;MQRankSum=-4.501;QD=16.69;ReadPosRankSum=-0.654;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,90:178:99:0|1:29382999_G_C:2983,0,3307:29382999	9	0	1	0
chr16	29383028	29383028	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1904C:p.R635P	.	530	989	1	0	2	3	0.000505306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00341195000851	.	.	0.0007	0.0003	0.0010	0.0007	0	0.0009	0	0.0004	0.0003074	8	26028	rs138595165	7.048e-05	9.046e-05	6.051e-05	8.056e-05	0.0003	5.906e-05	5.512e-05	0.0002	0.0001	6.335e-05	4.651e-05	0	0.0003	0	0	6.943e-05	0.0001	4.691e-05	0.0004	0.0022	0.0004	0.0005	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0008	0.0003	0.0008	0	0	0.0002	0	0	0.221	0.18889	T	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	-0.895	0.01383	N	2.17	0.19020	T	-0.53	0.16393	N	0.129	0.12341	-1.0028	0.29109	T	0.014	0.05369	T	5	0.027951658	0.00933	T	0.003412	0.07664	T	0.043	0.11576	0.472	0.54699	0.0954503805726	0.09146	0.0029045590469320435	0.00270	.	.	.	.	.	0.007658	0.07052	T	-0.718026	0.00028	T	-0.799044	0.01926	T	0.0207641019378915	0.00776	T	0.393061	0.09795	T	0.095700435	0.22528	0.14224006	0.33846	0.095700435	0.22527	0.14224006	0.33845	2.451	0.00034	T	.	.	0.224	0.45569	B	.	.	-0.346083	0.02421	0.273	0.55329711324615405	0.05320	0.00017	0.00201	N	AEFDI	0.014128	0.00213	N	-1.80391883393766	0.00535	0.02306132	-1.94951420007606	0.00390	0.01722129	3.22638092691484E-4	0.06540	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.212000	0.06011	-2.014000	0.00440	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3821.43	33	chr16	29383028	.	C	G	3821.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=546;ExcessHet=0;FS=6.197;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.79;MQRankSum=-4.069;QD=20.55;ReadPosRankSum=-1.276;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,102:186:99:0|1:29382999_G_C:3833,0,1599:29382999	9	0	1	0
chr16	29383985	29384041	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB11	.	nonframeshift deletion	NPIPB11:NM_001310137:exon8:c.891_947del:p.D298_A316del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.014e-05	4.685e-05	5.179e-05	4.85e-05	5.405e-05	3.944e-05	3.688e-05	4.233e-05	3.792e-05	0	0	0.0001	0	0.0001	0	5.405e-05	7.177e-05	0	3.844e-05	0.0001	4.869e-05	2.705e-05	0.0001	1.021e-05	4.83e-06	.	.	0	0	0.0001	0.0005	0	0	0	2.336e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	915.39	39	chr16	29383984	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	915.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=547;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.36;MQRankSum=2.53;QD=17.6;ReadPosRankSum=-1.249;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,29:52:99:0|1:29383984_AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC_A:927,0,804:29383984	9	0	1	0
chr16	29384017	29384017	G	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1147.37	39	chr16	29384017	.	G	*	1147.37	.	AC=1;AF=0.167;AN=6;BaseQRankSum=4.58;DP=782;ExcessHet=0;FS=4.766;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.333;MQ=36.89;MQRankSum=1.5;QD=11.36;ReadPosRankSum=1.63;SOR=0.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,29:50:99:1|0:29383984_AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC_A:1495,515,555:29383984	2	0	1	7
chr16	29384067	29384067	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C865G:p.L289V	.	490	1000	31	1	0	33	0.0162322	.	.	.	3886674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00158488070502	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202027988	0.0025	0.0051	0.0025	0.0025	0.0059	0.0024	0.0024	0.0038	0.0031	0.0013	0.0034	0.0092	0.0007	0.0040	0.0059	0.0024	0.0035	0.0017	0.0030	0.0051	0.0032	0.0028	0.0043	0.0027	0.0026	0.0038	0.0036	0.0005	0	0.0029	0.0074	0	0.0017	0.0069	0.0043	0.0008	0.0005	0.809	0.03044	T	0.677	0.06166	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	1.24	0.30952	L	2.11	0.19860	T	-0.14	0.09135	N	0.125	0.11769	-0.9730	0.36562	T	0.036	0.15422	T	5	0.020652711	0.00480	T	0.001585	0.02523	T	0.057	0.16321	0.6	0.73105	0.0666544352282	0.05500	0.012093240479471065	0.01168	.	.	.	.	.	0.004977	0.04407	T	-0.338299	0.05507	T	-0.72372	0.04618	T	0.00418858953756029	0.00045	T	0.487551	0.14930	T	0.06426165	0.13616	0.08630407	0.19986	0.06426165	0.13615	0.08630407	0.19986	-9.7	0.72096	D	.	.	0.202	0.42606	B	.	.	0.893099	0.12667	9.190	0.44852604465017715	0.03478	0.00304	0.01615	N	AEFDI	0.042671	0.06650	N	-0.899904461991242	0.10845	0.5202724	-1.10071547162413	0.07687	0.3748907	1.09537333666636E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	.	.	.	0.289000	0.18713	-4.996000	0.01894	0.288000	0.18739	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	541.43	39	chr16	29384067	.	G	C	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.839;DP=790;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.29;MQRankSum=-3.039;QD=8.08;ReadPosRankSum=-0.535;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,17:67:99:1|0:29383984_AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC_A:553,0,2047:29383984	9	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	700.3	110	chr16	29485668	.	C	*	700.3	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.202;DP=1076;ExcessHet=7.0302;FS=13.803;InbreedingCoeff=-0.6;MLEAC=5;MLEAF=0.278;MQ=29.59;MQRankSum=-0.241;QD=0.96;ReadPosRankSum=-2.645;SOR=0.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,21:74:99:1|0:29485610_ACACACTC_A:761,0,1805:29485610	4	0	5	1
chr16	48227870	48227870	G	A	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon3:c.C331T:p.R111C,ABCC11:NM_001370496:exon4:c.C331T:p.R111C,ABCC11:NM_001370497:exon4:c.C331T:p.R111C,ABCC11:NM_032583:exon5:c.C331T:p.R111C,ABCC11:NM_145186:exon5:c.C331T:p.R111C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0189597287759	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020990116	7.525e-06	7.525e-06	1.089e-05	4.125e-06	0.0001	4.04e-06	2.95e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.048	0.59159	D	0.116	0.40458	B	0.011	0.27082	B	0.000301	0.45977	D	0.132232	1	0.08975	N	1.935	0.51832	L	1.09	0.39223	T	-3.46	0.71997	D	0.333	0.37405	-1.0549	0.13066	T	0.051	0.21611	T	10	0.22685283	0.39550	T	0.01896	0.41188	T	0.068	0.19811	0.542	0.65446	0.40722173914	0.40337	0.3558164566781296	0.35495	0.130101318837	0.14674	0.253724455833	0.04170	T	0.294905	0.66758	T	-0.209282	0.19479	T	-0.52291	0.20001	T	0.197611421346664	0.20283	T	0.710429	0.32156	T	0.17207485	0.37878	0.112539455	0.27154	0.17207485	0.37878	0.112539455	0.27153	-5.163	0.38563	T	.	.	0.117	0.23918	B	.;.;.;.;.	.;.;.;.;.	1.165223	0.15545	11.93	0.98749467777065325	0.45633	0.01986	0.06001	N	AEFBI	0.102201	0.20507	N	-0.859824799440192	0.11808	0.5719566	-0.984312709632334	0.10137	0.508677	0.00108631645915802	0.08206	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	-3.29	0.04706	-0.866000	0.04354	-1.669000	0.04949	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.1488:0.1113:0.2902:0.4496	2.390	0.04109	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	.	.	.	.	.	.	.	.	0.05	1247.43	34	chr16	48227870	.	G	A	1247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.039;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.454;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1259,0,1094	9	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	314.43	34	chr16	50669118	.	A	G	314.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.867;DP=999;ExcessHet=0.7463;FS=107.622;InbreedingCoeff=-0.1756;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.77;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,18:135:19:0|1:50669118_A_G:19,0,4203:50669118	7	0	3	0
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S,NOD2:NM_001370466:exon4:c.C800G:p.T267S,NOD2:NM_022162:exon4:c.C881G:p.T294S	Blau syndrome, Autosomal dominant	1	1503	17	1	0	19	0.00628099	.	.	.	103775	Blau_syndrome|Regional_enteritis|Autoinflammatory_syndrome|not_provided|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1741.43	98	chr16	50710792	.	C	G	1741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=753;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.502;SOR=0.538	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1753,0,1285	9	0	1	0
chr16	57574833	57574833	C	T	exonic	ADGRG5	.	nonsynonymous SNV	ADGRG5:NM_001318481:exon10:c.C1109T:p.P370L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	7.7e-05	0.000199681	5.296e-05	0	0	0	0	7.784e-05	0	8.61e-05	5.82e-05	9	154602	rs145913178	5.076e-05	5.13e-05	4.819e-05	5.337e-05	0.0002	4.125e-05	3.795e-05	4.321e-05	3.887e-05	3.024e-05	4.602e-05	0	2.549e-05	0	0.0002	5.467e-05	0.0001	2.367e-05	5.908e-05	5.905e-05	8.992e-05	2.685e-05	0.0004	3.075e-05	2.208e-05	6.837e-05	2.861e-05	0	0	6.534e-05	0	0.0004	0	0	5.881e-05	0.0005	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	.	.	.	.	.	.	.	.	0.05	1582.43	34	chr16	57574833	.	C	T	1582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.306;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.413;SOR=0.656	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1594,0,1393	9	0	1	0
chr16	66588066	66588066	G	A	exonic	CMTM2	.	nonsynonymous SNV	CMTM2:NM_001199317:exon3:c.G535A:p.A179T,CMTM2:NM_144673:exon4:c.G694A:p.A232T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00351899472758	.	.	1.651e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs761636615	4.791e-05	4.788e-05	5.176e-05	4.403e-05	5.755e-05	3.862e-05	3.542e-05	4.612e-05	4.197e-05	2.989e-05	4.472e-05	0	0	0	0	5.755e-05	1.658e-05	2.32e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.039	0.42487	D	0.12	0.36630	T	0.65	0.40644	P	0.045	0.24526	B	0.001773	0.00824	N	3.914630	1	0.08975	N	1.355	0.33814	L	0.8	0.48769	T	-0.81	0.22294	N	0.1	0.08227	-0.9569	0.39753	T	0.080	0.31586	T	10	0.06796786	0.09546	T	0.003519	0.08000	T	0.033	0.08068	.	.	0.294918367191	0.29099	0.12144525188915871	0.12071	0.194864376624	0.21820	0.226779535413	0.01738	T	0.003	0.02196	T	-0.413765	0.01877	T	-0.646217	0.09221	T	0.0726382806897163	0.09017	T	0.412859	0.10744	T	0.03158974	0.03026	0.041031305	0.04570	0.03158974	0.03025	0.041031305	0.04570	-6.04	0.46613	T	.	.	0.097	0.15788	B	.;.	.;.	0.770843	0.11407	8.019	0.81541780543511744	0.13737	0.00956	0.03673	N	AEFDBI	0.030787	0.03167	N	-0.926504365036797	0.10225	0.4876235	-1.072699172647	0.08240	0.404313	0.999523147063297	0.40175	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.31	0.055	0.13628	0.542000	0.22930	-0.348000	0.09765	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.4621:0.0:0.5379:0.0	5.370	0.15436	281	0.88893	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	326.43	33	chr16	66588066	.	G	A	326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.041;DP=305;ExcessHet=0;FS=1.367;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.292;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,16:30:99:338,0,313	9	0	1	0
chr16	66623424	66623424	C	T	exonic	CMTM4	.	nonsynonymous SNV	CMTM4:NM_178818:exon3:c.G442A:p.G148R,CMTM4:NM_181521:exon3:c.G442A:p.G148R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0238289466511	.	0.000199681	2.479e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs138530024	3.422e-06	3.42e-06	4.086e-06	2.751e-06	2.992e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	2.992e-05	2.242e-05	0	0	0	0	8.995e-07	0	2.322e-05	3.94e-05	4.593e-05	2.57e-05	5.373e-05	0.0001	1.715e-05	1.129e-05	6.271e-05	4.292e-05	0.0001	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.126	0.59732	T	0.545	0.37995	P	0.109	0.31370	B	0.000161	0.49130	D	0.213646	1	0.81001	D	2.3	0.65703	M	1.76	0.25996	T	-3.03	0.63323	D	0.805	0.80083	-1.0446	0.15942	T	0.074	0.30023	T	10	0.35442263	0.52226	T	0.023829	0.46806	T	0.180	0.45073	0.773	0.89924	0.286465849087	0.28247	0.8845143836113893	0.88419	1.51474417535	0.87295	0.516914606094	0.41192	T	0.054261	0.31620	T	-0.281676	0.10491	T	-0.346192	0.39641	T	0.708979070186615	0.41150	D	0.915108	0.69728	D	0.32690355	0.55216	0.27131632	0.53031	0.32690355	0.55216	0.27131632	0.53030	-7.302	0.59609	T	.	.	0.650	0.70925	P	.;.;.;.	.;.;.;.	5.048550	0.84074	28.2	0.99928412143344036	0.99222	0.96299	0.68462	D	AEFBI	0.685342	0.64738	D	0.285851662270099	0.55430	3.707164	0.366031377503188	0.59480	4.126131	0.999998195036031	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.88	4.91	0.63897	6.282000	0.72666	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:0.8693:0.1307:0.0	16.572	0.84464	268	0.89479	Marvel domain|Marvel domain;Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	668.43	33	chr16	66623424	.	C	T	668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.68;DP=357;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.54;SOR=0.504	GT:AD:DP:GQ:PL	0/1:22,30:52:99:680,0,533	9	0	1	0
chr16	67940328	67940328	C	T	exonic	LCAT	.	nonsynonymous SNV	LCAT:NM_000229:exon6:c.G899A:p.R300H	Fish-eye disease, Autosomal recessive;Norum disease, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1821024	Norum_disease|Fish-eye_disease|Cardiovascular_phenotype	MONDO:MONDO:0009515,MedGen:C0023195,OMIM:245900,Orphanet:79293|MONDO:MONDO:0007620,MedGen:C0342895,OMIM:136120,Orphanet:650,Orphanet:79292|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.229	0.0908424438141	.	.	0.0001	9.612e-05	0	0	0	7.509e-05	0	0.0004	9.06e-05	14	154602	rs770469492	7.183e-05	7.182e-05	4.901e-05	9.488e-05	0.0004	6.047e-05	5.595e-05	0.0003	0.0003	0	6.708e-05	0	0	0	0	4.946e-05	0.0001	0.0004	7.885e-05	7.88e-05	7.708e-05	8.07e-05	0.0006	4.497e-05	3.512e-05	0.0002	8.981e-05	4.827e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.219	0.19023	T	0.134	0.34241	T	0.009	0.15093	B	0.008	0.13708	B	0.008134	0.31003	U	0.275188	0.921803	0.27275	N	1.185	0.30054	L	-3.69	0.95317	D	-1.32	0.32991	N	0.133	0.12913	-0.2803	0.75532	T	0.622	0.86676	D	10	0.21064767	0.37466	T	0.090842	0.75594	D	0.229	0.52916	.	.	0.957517869812	0.95706	0.5075213809769629	0.50674	0.504634987189	0.48735	0.215147793293	0.01049	T	0.595513	0.86960	D	-0.193861	0.21694	T	-0.211697	0.53534	T	0.0623886622488499	0.07541	T	0.90251	0.70434	D	0.16244142	0.36321	0.06663301	0.13677	0.10199722	0.24096	0.059651718	0.11231	-4.241	0.27341	T	0.20896088375421326	0.27962	0.072	0.04159	B	.;.	.;.	2.329964	0.29844	18.25	0.99078159212534112	0.51906	0.81449	0.40850	D	AEFDBHCIJ	0.349523	0.44328	N	-0.445129956256449	0.23905	1.287069	-0.252746561499493	0.29677	1.664595	0.999994963837875	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	3.1	0.34780	0.429000	0.21131	-0.122000	0.11711	0.599000	0.40250	0.973000	0.34540	0.003000	0.18671	0.970000	0.54328	0.0:0.6542:0.0:0.3458	7.457	0.26442	8	0.99202	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1892.43	38	chr16	67940328	.	C	T	1892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.582;DP=494;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.67;SOR=0.694	GT:AD:DP:GQ:PL	0/1:98,85:183:99:1904,0,2188	9	0	1	0
chr16	74740049	74740049	G	A	exonic	FA2H	.	nonsynonymous SNV	FA2H:NM_024306:exon2:c.C337T:p.R113W	Spastic paraplegia 35, autosomal recessive, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	375399	Hereditary_spastic_paraplegia_35|Hereditary_spastic_paraplegia|Spastic_paraplegia|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319,Orphanet:171629|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.144536642185	0.0008	.	0.0007	0.0002	0.0008	0.0001	0.0006	0.0009	0	0	0.0005821	90	154602	rs141276237	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	5.974e-05	0.0009	0.0053	0	0.0006	0.0031	0.0003	0.0008	9.275e-05	0.0005	0.0005	0.0005	0.0006	0.0014	0.0004	0.0004	0.0010	0.0008	4.829e-05	0	0.0014	0.0043	0	0.0009	0	0.0004	0.0014	0	0.045	0.40832	D	0.077	0.42436	T	0.996	0.68779	D	0.528	0.48482	P	0.148510	0.18047	N	0.580298	0.999962	0.26515	N	2.175	0.60977	M	-2.12	0.86283	D	-1.72	0.40850	N	0.235	0.26475	-0.3227	0.74346	T	0.502	0.81188	D	10	0.0102182925	0.00228	T	0.144537	0.82679	D	0.274	0.59007	.	.	0.657747481773	0.65488	0.5472668999718603	0.54652	0.661139551435	0.58907	0.217487826943	0.01170	T	0.342776	0.71150	T	-0.291061	0.09529	T	-0.266279	0.48196	T	0.0229355689889746	0.01015	T	0.714229	0.34112	T	0.036097545	0.04375	0.043120515	0.05293	0.033653986	0.03627	0.04043278	0.04369	-6.501	0.50294	T	0.4198720639045686	0.50881	0.084	0.26514	B	.;.	.;.	3.389107	0.46917	22.4	0.99818023649359167	0.90150	0.14845	0.18615	N	AEFGBCI	0.250638	0.37065	N	-0.357750809218298	0.26990	1.477261	-0.452573229885999	0.23476	1.280455	0.999914401855472	0.45857	0.646311	0.45356	0	0.659912	0.62753	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.74	1.07	0.19399	0.850000	0.27389	1.171000	0.24625	-1.792000	0.00636	0.719000	0.28811	0.861000	0.27489	0.010000	0.09038	0.0:0.0:0.5171:0.4829	10.559	0.44320	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1698.43	33	chr16	74740049	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=435;ExcessHet=0;FS=3.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.07;SOR=0.547	GT:AD:DP:GQ:PL	0/1:55,70:125:99:1710,0,1135	9	0	1	0
chr16	75224755	75224755	G	C	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon6:c.G547C:p.G183R	.	410	1096	16	0	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0008	0	0.0004	0	0	0.0009	0.0033	0.0015	0.0006662	103	154602	rs143327059	0.0006	0.0006	0.0005	0.0007	0.0168	0.0006	0.0005	0.0141	0.0131	5.975e-05	0.0009	0.0002	0	0	0.0168	0.0005	0.0011	0.0016	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0	0	0.0020	0	0	0	0.0102	0.0006	0.0028	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1070.43	34	chr16	75224755	.	G	C	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=380;ExcessHet=0;FS=1.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.347;SOR=1.039	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1082,0,881	9	0	1	0
chr16	83032186	83032186	G	A	exonic	CDH13	.	nonsynonymous SNV	CDH13:NM_001220489:exon3:c.G334A:p.V112I,CDH13:NM_001220491:exon3:c.G334A:p.V112I,CDH13:NM_001220492:exon3:c.G334A:p.V112I,CDH13:NM_001257:exon3:c.G334A:p.V112I,CDH13:NM_001220488:exon4:c.G475A:p.V159I	.	423	1076	21	2	0	25	0.0114837	.	.	.	726822	not_provided|CDH13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0173886277024	0.0017	0.000599042	0.0027	0.0002	0.0010	0	0.0005	0.0035	0.0023	0.0049	0.0024903	385	154602	rs200199969	0.0023	0.0023	0.0022	0.0025	0.0173	0.0023	0.0022	0.0146	0.0136	0.0004	0.0015	0.0105	2.523e-05	0.0004	0.0173	0.0020	0.0028	0.0056	0.0019	0.0019	0.0020	0.0018	0.0039	0.0017	0.0017	0.0026	0.0023	0.0004	0	0.0008	0.0104	0	0.0004	0.0170	0.0028	0.0038	0.0039	0.216	0.19225	T	0.848	0.43913	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-0.08	0.63911	T	-0.13	0.09627	N	0.154	0.18239	-0.9578	0.39589	T	0.158	0.49060	T	9	0.0044552386	0.00091	T	0.017389	0.39069	T	0.056	0.15993	.	.	0.620859307327	0.61778	0.21591271675986948	0.21507	0.0610399350882	0.06795	0.311910480261	0.12196	T	0.099392	0.40416	T	-0.514157	0.00475	T	-0.510787	0.21235	T	0.00325878001698791	0.00034	T	0.771423	0.40183	T	0.018378975	0.00359	0.024692005	0.00493	0.016962029	0.00235	0.03030839	0.01470	-3.238	0.22243	T	.	.	0.070	0.11941	B	.;.;.;.;.	.;.;.;.;.	0.287551	0.06639	3.138	0.97139356803091581	0.32534	0.09254	0.15047	N	AEFBI	0.056109	0.10347	N	-0.702517281820048	0.15951	0.808437	-0.66485474165278	0.17842	0.9505168	0.387530462930405	0.20016	0.719381	0.83141	0	0.573888	0.26702	0	0.607057	0.38367	0	0.733575	0.97253	0	.	.	5.65	3.7	0.41607	0.038000	0.13749	1.273000	0.25303	0.618000	0.50648	0.006000	0.17386	0.166000	0.23302	0.585000	0.31016	0.1426:0.2358:0.6215:0.0	7.609	0.27283	969	0.06854	Cadherin prodomain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.010101	0.010870	0.032164	0.000000	0.034483	0.003049	0.011364	0.05	758.43	43	chr16	83032186	.	G	A	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.637;DP=465;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=1.03;SOR=0.578	GT:AD:DP:GQ:PL	0/1:52,34:86:99:770,0,1449	9	0	1	0
chr16	88577149	88577149	G	A	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_001294340:exon2:c.G26A:p.R9Q,ZC3H18:NM_144604:exon2:c.G26A:p.R9Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00588287225852	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs562706352	4.218e-06	5.472e-06	4.17e-06	4.267e-06	2.753e-06	1.52e-06	1e-06	7.3e-07	2e-07	0	0	0	0	0	0	2.753e-06	5.121e-05	0	6.567e-06	6.562e-06	1.285e-05	0	6.537e-05	0	0	.	.	0	0	6.537e-05	0	0	0	0	0	0	0	0.076	0.35349	T	0.826	0.06713	T	0.005	0.12996	B	0.003	0.08700	B	0.000236	0.47286	N	0.192205	0.999297	0.21398	N	1.5	0.37844	L	1.62	0.28836	T	-0.05	0.15782	N	0.136	0.13341	-1.0362	0.18481	T	0.049	0.21026	T	10	0.06542733	0.08824	T	0.005883	0.15310	T	0.041	0.10877	0.147	0.05039	0.043077524339	0.03247	0.02502180436741748	0.02453	0.0188031930792	0.01831	0.370954871178	0.20969	T	0.022471	0.17317	T	-0.381267	0.03059	T	-0.672949	0.07421	T	0.109566703099967	0.13378	T	0.785321	0.42297	T	0.021924028	0.00823	0.036254544	0.03036	0.021924028	0.00822	0.036254544	0.03036	-9.558	0.71219	D	.	.	0.075	0.09288	B	.;.;.	.;.;.	2.478105	0.31950	18.90	0.99654026403878315	0.77505	0.76827	0.37711	D	AEFBCI	0.120374	0.23452	N	-0.515418285868382	0.21581	1.146374	-0.378229456597688	0.25646	1.411724	0.992860941698702	0.32997	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.51	0.29435	0.550000	0.23052	2.734000	0.34411	-1.428000	0.01119	0.996000	0.39380	1.000000	0.68203	0.581000	0.30918	0.2011:0.1143:0.5604:0.1242	3.343	0.06707	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	0.000512	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.000000	0.05	1675.43	73	chr16	88577149	.	G	A	1675.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.674;DP=759;ExcessHet=0;FS=5.504;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.229;SOR=0.434	GT:AD:DP:GQ:PL	0/1:54,69:123:99:1687,0,1347	9	0	1	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D,ACSF3:NM_001127214:exon8:c.G1470C:p.E490D,ACSF3:NM_001243279:exon9:c.G1470C:p.E490D,ACSF3:NM_174917:exon9:c.G1470C:p.E490D	Combined malonic and methylmalonic aciduria	0	1508	14	0	0	14	0.00462046	.	.	YES	375624	Combined_malonic_and_methylmalonic_acidemia|not_provided	MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal 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	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.003788	0.05	1464.43	36	chr16	89145370	.	G	C	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.33;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.227;SOR=0.732	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1476,0,1655	9	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	511.05	100	chr16	89284161	.	A	G	511.05	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.69;DP=875;ExcessHet=1.5895;FS=276.627;InbreedingCoeff=-0.4635;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.605;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,14:56:69:.:.:69,0,903:.	2	0	4	4
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	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	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.2	2415.55	34	chr16	89767168	.	G	C	2415.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.052;DP=368;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.371;SOR=0.631	GT:AD:DP:GQ:PL	0/1:16,31:47:99:765,0,326	7	1	2	0
chr16	89919458	89919458	G	A	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.G200A:p.R67Q	.	0	1507	15	0	0	15	0.00495213	.	.	.	326896	MC1R-related_disorder|Melanoma,_cutaneous_malignant,_susceptibility_to,_5|Tyrosinase-positive_oculocutaneous_albinism|SKIN/HAIR/EYE_PIGMENTATION,_VARIATION_IN,_2|Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|not_provided	.|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C1849452,OMIM:266300|MedGen:C2751296,OMIM:613098|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0156829568761	0.0002	0.00139776	0.0009	0.0002	0	0.0094	0	0.0001	0	0.0012	0.0007697	119	154602	rs34090186	0.0004	0.0004	0.0004	0.0004	0.0090	0.0004	0.0004	0.0082	0.0079	0.0001	4.473e-05	0	0.0090	0	0.0024	7.645e-05	0.0006	0.0010	0.0003	0.0003	0.0003	0.0004	0.0070	0.0003	0.0002	0.0052	0.0046	4.81e-05	0	6.538e-05	0	0.0070	0	0	7.351e-05	0	0.0019	0.041	0.91255	D	0.027	0.79402	D	0.744	0.43069	P	0.248	0.38946	B	0.001733	0.38161	U	0.000000	0.703622	0.33447	D	2.01	0.54746	M	4.09	0.02973	T	-2.21	0.49684	N	0.271	0.39457	-0.9628	0.38645	T	0.011	0.04227	T	9	0.010247439	0.00229	T	0.015683	0.36546	T	0.070	0.20419	.	.	0.63219663047	0.62918	0.29869522478087734	0.29782	0.0272794671194	0.02785	.	.	.	0.226018	0.59092	T	-0.438398	0.01322	T	-0.394543	0.34021	T	0.0169585880314255	0.00446	T	0.608539	0.27241	T	0.20165548	0.42184	0.16458961	0.38120	0.20165548	0.42184	0.16458961	0.38119	-6.062	0.46795	T	0.2226561808554937	0.30045	0.092	0.16713	B	.;.;.;.	.;.;.;.	3.551334	0.49927	22.9	0.99884370448600013	0.95970	0.72642	0.35549	D	AEFDBCI	0.486339	0.52555	N	0.0354521486544569	0.43473	2.639612	0.0350683302984734	0.41355	2.483226	0.999999909591657	0.74766	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.655142	0.61905	0	.	.	4.86	2.86	0.32427	3.044000	0.49520	0.606000	0.19981	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.940000	0.48062	0.2491:0.0:0.7509:0.0	8.354	0.31480	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1793.43	38	chr16	89919458	.	G	A	1793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.553;DP=526;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.22;SOR=0.692	GT:AD:DP:GQ:PL	0/1:118,81:199:99:1805,0,2781	9	0	1	0
chr17	410397	410397	G	A	exonic	C17orf97	.	nonsynonymous SNV	C17orf97:NM_001013672:exon1:c.G55A:p.G19S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.012283901289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.457e-06	8.209e-06	0	2.949e-06	2.835e-05	2.4e-07	9e-08	.	.	0	0	0	2.835e-05	0	0	9.273e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.144	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.05	0.58176	T	-0.62	0.24898	N	0.041	0.01421	-0.9995	0.30058	T	0.090	0.34628	T	9	0.11368695	0.21366	T	0.012284	0.30711	T	0.115	0.32236	0.303	0.27164	0.171388866994	0.16791	0.0845521961178187	0.08389	0.417443729837	0.42361	.	.	.	.	.	.	-0.0931974	0.37549	T	-0.371648	0.36697	T	0.777226805686951	0.44878	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.40328	B	.;.;.	.;.;.	0.262162	0.06405	2.873	0.97656093040713365	0.35166	0.09867	0.15524	N	ALL	0.034367	0.04245	N	-0.88843369010633	0.11117	0.5347729	-1.16396471586481	0.06521	0.3141314	0.999999999999879	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.88	-5.77	0.02176	-0.641000	0.05531	-1.963000	0.04425	0.616000	0.49467	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.1018:0.2592:0.199:0.4401	2.194	0.03667	774	0.48577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	480.43	34	chr17	410397	.	G	A	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.645;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.385;SOR=0.791	GT:AD:DP:GQ:PL	0/1:27,21:48:99:492,0,673	9	0	1	0
chr17	2039805	2039805	C	G	exonic	DPH1	.	nonsynonymous SNV	DPH1:NM_001346576:exon6:c.C326G:p.P109R,DPH1:NM_001346574:exon7:c.C746G:p.P249R,DPH1:NM_001346575:exon7:c.C713G:p.P238R,DPH1:NM_001383:exon7:c.C731G:p.P244R	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive	429	1068	25	0	0	25	0.0115687	.	.	.	715292	not_provided|DPH1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.508	0.0930625867412	0.0037	0.00299521	0.0051	0.0008	0.0020	0	0.0020	0.0070	0.0089	0.0060	0.0048318	747	154602	rs80150196	0.0052	0.0052	0.0051	0.0054	0.0071	0.0051	0.0051	0.0062	0.0061	0.0008	0.0023	0.0010	0	0.0040	0.0071	0.0057	0.0047	0.0067	0.0037	0.0037	0.0038	0.0035	0.0064	0.0034	0.0033	0.0049	0.0047	0.0008	0	0.0056	0.0014	0	0.0034	0.0102	0.0053	0.0033	0.0064	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.054132	1	0.81001	D	3.68	0.94442	H	0.85	0.47130	T	-8.67	0.97580	D	0.946	0.95725	-0.1012	0.80071	T	0.315	0.68451	T	10	0.07061556	0.10296	T	0.093063	0.76004	D	0.508	0.78848	.	.	0.702741401759	0.70016	0.8725920003565045	0.87225	0.59895004759	0.55043	0.538162469864	0.44186	T	0.633751	0.88682	D	-0.0244674	0.48214	T	0.197205	0.82975	D	0.108463703120588	0.13263	T	0.992201	0.97531	D	0.85482275	0.87694	0.8572672	0.91993	0.8915819	0.90644	0.8382441	0.90723	-10.153	0.74823	D	.	.	0.223	0.45433	B	.;.	.;.	5.088951	0.84970	28.5	0.99795850266812469	0.88106	0.90517	0.51758	D	AEFBCI	0.673786	0.63972	D	0.779499025026802	0.84809	8.392263	0.686683549755314	0.81367	7.510028	0.999999999999405	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.66	4.66	0.57857	6.606000	0.74036	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	16.763	0.85377	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	0	0	1	0	0.007049	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	1795.43	36	chr17	2039805	.	C	G	1795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.237;SOR=0.718	GT:AD:DP:GQ:PL	0/1:99,79:178:99:1807,0,2139	9	0	1	0
chr17	2041583	2041583	C	A	exonic	DPH1	.	nonsynonymous SNV	DPH1:NM_001346576:exon10:c.C784A:p.R262S,DPH1:NM_001346574:exon11:c.C1141A:p.R381S,DPH1:NM_001346575:exon11:c.C1108A:p.R370S,DPH1:NM_001383:exon11:c.C1189A:p.R397S	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0271421685229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.189	0.29639	T	0.418	0.35279	B	0.044	0.24394	B	0.013217	0.28915	N	0.289261	0.966592	0.38540	D	2.255	0.64187	M	1.47	0.45636	T	-1.25	0.31576	N	0.333	0.37405	-1.0699	0.09436	T	0.063	0.26244	T	10	0.16499117	0.30852	T	0.027142	0.49983	D	0.045	0.12272	0.275	0.22687	0.463843524616	0.46008	0.44002408774264185	0.43919	0.184290375964	0.20729	0.509209930897	0.40112	T	0.135465	0.46729	T	0.0246447	0.55005	T	-0.202376	0.54420	T	0.780357718467712	0.45072	D	0.645335	0.28483	T	0.17029801	0.37597	0.13070427	0.31401	0.17029801	0.37596	0.13070427	0.31400	-5.032	0.41321	T	.	.	0.128	0.30211	B	.;.	.;.	2.741659	0.35911	20.1	0.97556908316571966	0.34598	0.28186	0.23485	N	ALL	0.274206	0.38944	N	-0.351524356633	0.27215	1.491448	-0.367279254098146	0.25980	1.432091	0.999999999999501	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	5.01	5.01	0.66477	3.094000	0.49919	1.731000	0.28328	0.599000	0.40250	0.935000	0.32453	0.253000	0.23932	0.009000	0.08673	0.0:0.8418:0.1582:0.0	13.322	0.59875	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1286.43	33	chr17	2041583	.	C	A	1286.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.033;DP=392;ExcessHet=0;FS=6.026;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=-1.159;SOR=0.223	GT:AD:DP:GQ:PL	0/1:16,46:62:99:1298,0,404	9	0	1	0
chr17	2324278	2324278	G	A	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon15:c.C2333T:p.T778I	.	420	1087	14	1	0	16	0.00730594	.	.	.	3210534	TSR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.328	0.015573889284	.	0.00259585	0.0023	9.775e-05	0.0017	0	0.0012	0.0026	0.0013	0.0060	0.0020957	324	154602	rs141644586	0.0017	0.0018	0.0016	0.0018	0.0054	0.0017	0.0016	0.0050	0.0048	0.0003	0.0014	0.0039	0	0.0012	0.0047	0.0015	0.0024	0.0054	0.0017	0.0017	0.0016	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0003	0	0.0022	0.0032	0.0002	0.0010	0.0102	0.0020	0.0033	0.0075	0.04	0.42199	D	0.036	0.52060	D	0.781	0.44300	P	0.334	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.71	0.12055	T	-4.67	0.79571	D	0.674	0.68169	-0.9718	0.36819	T	0.022	0.09513	T	10	0.012049884	0.00261	T	0.015574	0.36375	T	0.328	0.65026	.	.	0.517104213562	0.51352	0.7157283914635781	0.71515	0.521668995998	0.49930	0.705295443535	0.67911	T	0.168169	0.51508	T	-0.28306	0.10346	T	-0.178557	0.56657	T	0.0806617079686739	0.10072	T	0.957504	0.83996	D	0.66671205	0.76257	0.52545553	0.72583	0.66671205	0.76258	0.52545553	0.72583	-9.113	0.68421	D	.	.	0.317	0.54279	B	.	.	3.791724	0.54583	23.5	0.99897748403918818	0.97048	0.97204	0.73304	D	AEFDBCI	0.898383	0.84161	D	0.305920468281092	0.56453	3.80992	0.43935198592711	0.64038	4.649846	0.999999998703384	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.92	4.92	0.64147	9.842000	0.98352	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.098	0.86515	648	0.63242	.	.	.	.	.	.	Likely benign	0	0	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	0.007661	0.000000	0.005435	0.000000	0.000000	0.017241	0.021341	0.007576	0.05	974.43	38	chr17	2324278	.	G	A	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.35;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.624;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,28:91:99:0|1:2324277_A_T:986,0,2556:2324277	9	0	1	0
chr17	3726150	3726150	T	C	exonic	HASPIN	.	nonsynonymous SNV	HASPIN:NM_031965:exon1:c.T2215C:p.Y739H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0101736378114	0.0008	0.000798722	0.0008	0.0004	0.0003	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs74714325	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0001	0.0006	0.0006	2.519e-05	5.616e-05	0.0009	0.0015	0.0014	0.0001	0.0011	0.0011	0.0012	0.0009	0.0016	0.0009	0.0009	0.0014	0.0013	0.0003	0.0263	0.0008	0.0009	0	0	0	0.0016	0.0014	0.0002	0.101	0.30375	T	0.467	0.12351	T	0.326	0.33151	B	0.146	0.33945	B	0.000094	0.51296	D	0.079041	1	0.81001	D	1.8	0.47472	L	3.32	0.06214	T	-1.01	0.26639	N	0.255	0.28849	-0.9706	0.37073	T	0.010	0.03856	T	10	0.009419292	0.00213	T	0.010174	0.26390	T	0.102	0.29158	.	.	0.235664433957	0.23186	0.5530356964768158	0.55229	0.520434833659	0.49844	0.459271430969	0.33210	T	0.055463	0.30014	T	-0.469047	0.00862	T	-0.471158	0.25392	T	0.0108688971616509	0.00155	T	0.740126	0.35895	T	0.22443363	0.45085	0.08226103	0.18761	0.22443363	0.45085	0.08226103	0.18761	-3.339	0.14245	T	.	.	0.121	0.25100	B	.	.	2.544508	0.32919	19.19	0.9883104488223643	0.46952	0.57101	0.30289	D	AEFBI	0.088332	0.17909	N	-0.247673370640336	0.31197	1.746854	-0.111242027286049	0.34936	2.015316	0.99995929379051	0.48110	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	4.33	0.51083	1.608000	0.36458	4.276000	0.42864	-0.120000	0.14102	0.939000	0.32602	1.000000	0.68203	0.966000	0.53164	0.0:0.1892:0.0:0.8108	6.903	0.23471	666	0.61362	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2410.43	50	chr17	3726150	.	T	C	2410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=584;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-1.218;SOR=0.92	GT:AD:DP:GQ:PL	0/1:64,86:150:99:2422,0,1620	9	0	1	0
chr17	4990246	4990246	G	A	exonic	INCA1	.	stopgain	INCA1:NM_001167985:exon4:c.C64T:p.R22X,INCA1:NM_001167987:exon4:c.C64T:p.R22X,INCA1:NM_213726:exon4:c.C64T:p.R22X,INCA1:NM_001167986:exon5:c.C64T:p.R22X	.	432	1066	23	1	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.000399361	0.0021	0.0004	0.0006	0	0	0.0032	0.0045	0.0018	0.0018887	292	154602	rs149206445	0.0016	0.0016	0.0014	0.0017	0.0043	0.0015	0.0015	0.0030	0.0026	0.0001	0.0008	0.0432	0	7.491e-05	0.0043	0.0006	0.0041	0.0021	0.0017	0.0017	0.0018	0.0016	0.0027	0.0015	0.0015	0.0016	0.0013	0.0002	0	0.0009	0.0439	0	9.429e-05	0.0034	0.0009	0.0043	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.001109	0.40219	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.319	0.38950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264431	0.79938	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;Recessive	.;.;High;High	8.892603	0.98170	39	0.99601299692398826	0.74219	0.75325	0.36875	D	AEFDGBI	0.106746	0.21289	N	0.772409359333503	0.84354	8.264534	0.622320849957029	0.76565	6.514363	0.999999447789297	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.37	4.37	0.51830	2.384000	0.44017	6.006000	0.52567	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	12.746	0.56658	557	0.71576	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1171.43	38	chr17	4990246	.	G	A	1171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=440;ExcessHet=0;FS=5.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.543;SOR=1.252	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1183,0,1284	9	0	1	0
chr17	7482046	7482046	C	T	exonic	SLC35G6	.	nonsynonymous SNV	SLC35G6:NM_001102614:exon2:c.C62T:p.A21V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0211198030945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.24	0.24406	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.81001	D	0	0.06538	N	1.72	0.26588	T	-0.05	0.07736	N	0.069	0.04188	-1.0125	0.26133	T	0.033	0.14290	T	9	0.051997185	0.05166	T	0.02112	0.43839	T	0.041	0.10877	0.084	0.00795	0.0611884634855	0.05136	0.10411578212053164	0.10341	0.320478947363	0.34256	0.444718599319	0.31223	T	0.005781	0.05228	T	-0.235117	0.15977	T	-0.575506	0.14949	T	0.332366909949813	0.26320	T	.	.	.	0.06254997	0.13077	0.1308734	0.31437	0.06254997	0.13076	0.1308734	0.31436	-4.55	0.31538	T	.	.	0.079	0.07460	B	.	.	2.103710	0.26765	17.23	0.99479413757239166	0.66795	0.85663	0.44820	D	AEFBI	0.308120	0.41480	N	-0.542750450680488	0.20711	1.093856	-0.39493752120749	0.25146	1.381215	0.999963664933866	0.48965	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	3.21	0.35933	2.568000	0.45628	2.654000	0.33835	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.0:0.8143:0.1857:0.0	11.305	0.48563	149	0.94096	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1380.43	47	chr17	7482046	.	C	T	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.037;DP=654;ExcessHet=0;FS=1.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=1.07;QD=13.15;ReadPosRankSum=0.53;SOR=0.865	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1392,0,1474	9	0	1	0
chr17	7801592	7801592	A	G	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon57:c.A8714G:p.Q2905R	.	417	1089	14	2	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0165019050901	0.0003	.	0.0006	0	0.0015	0	0	0.0004	0.0022	0.0019	0.0004916	76	154602	rs141017146	0.0003	0.0003	0.0003	0.0004	0.0038	0.0003	0.0003	0.0026	0.0022	2.987e-05	0.0009	0.0013	0	0	0.0038	0.0002	0.0006	0.0019	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0	0	0.0006	0.0026	0.0002	0	0	0.0002	0.0014	0.0012	0.141	0.25560	T	.	.	.	0.933	0.52105	P	0.799	0.58136	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.635	0.41844	L	1.08	0.39401	T	-2.22	0.49846	N	0.613	0.65245	-0.9575	0.39644	T	0.131	0.44208	T	10	0.08210328	0.13513	T	0.016502	0.37786	T	0.146	0.38789	.	.	0.589222994759	0.58597	0.6031580204446431	0.60246	0.794087514997	0.65961	0.732793986797	0.71915	T	0.224681	0.58919	T	-0.316166	0.07217	T	-0.23419	0.51364	T	0.0656032526383146	0.08020	T	0.908809	0.67676	D	0.36838683	0.58465	0.47019973	0.69277	0.36838683	0.58465	0.47019973	0.69278	-10.151	0.74811	D	.	.	0.140	0.30791	B	.;.	.;.	4.396834	0.67907	25.2	0.99870480526638605	0.94815	0.98189	0.80377	D	AEFDGBI	0.861356	0.77941	D	0.594581776375814	0.72834	5.868776	0.619407843570241	0.76349	6.474861	0.998832413951843	0.37777	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	5.37	0.76949	6.457000	0.73422	11.227000	0.89965	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.331	0.66111	277	0.89083	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.002924	0.000000	0.000000	0.009146	0.000000	0.05	1716.43	36	chr17	7801592	.	A	G	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.11;SOR=0.643	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1728,0,1244	9	0	1	0
chr17	8003657	8003657	G	A	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon2:c.G610A:p.A204T	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.816675478334	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302566071	2.079e-06	4.788e-06	2.759e-06	1.393e-06	2.703e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.18	0.21968	T	0.132	0.34477	T	0.688	0.41582	P	0.491	0.47360	P	0.024657	0.26225	N	0.185834	1	0.08975	N	1.61	0.41143	L	-1.7	0.83072	D	-1.66	0.39692	N	0.162	0.17002	-0.6393	0.63175	T	0.435	0.77536	T	10	0.45225924	0.58772	T	0.816675	0.98573	D	0.299	0.61955	0.58	0.70604	0.874959654217	0.87373	0.5268405448889866	0.52608	0.25362918265	0.27937	0.757554411888	0.75566	T	0.260974	0.63240	T	-0.06861	0.41549	T	-0.33633	0.40761	T	0.645869672298431	0.38285	D	0.610439	0.23144	T	0.05720993	0.11356	0.1341441	0.32150	0.05720993	0.11356	0.1341441	0.32150	-5.14	0.38326	T	0.23308355097667305	0.31549	0.117	0.23918	B	.	.	3.502775	0.49019	22.7	0.99845357817396474	0.92489	0.28742	0.23636	N	AEFDBI	0.114208	0.22503	N	-0.353846574052284	0.27130	1.486104	-0.441949622610606	0.23777	1.298502	0.981248179270008	0.30237	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	5.19	3.2	0.35826	1.706000	0.37497	9.734000	0.81410	-0.111000	0.15049	0.016000	0.19238	1.000000	0.68203	0.632000	0.32210	0.1628:0.0:0.688:0.1492	6.264	0.20126	712	0.56465	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	749.43	34	chr17	8003657	.	G	A	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.933;DP=388;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.711;SOR=0.968	GT:AD:DP:GQ:PL	0/1:31,31:62:99:761,0,779	9	0	1	0
chr17	8798924	8798924	C	G	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G197C:p.C66S	.	434	1087	1	0	0	1	0.00045977	.	.	.	4166699	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.315	0.0466680456684	.	.	8.29e-05	0	0	0	0	0	0.0011	0.0006	6.47e-05	10	154602	rs145172030	3.968e-05	3.967e-05	2.451e-05	5.502e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0004	0	0	0	0	0	0	4.497e-06	0	0.0006	2.628e-05	2.627e-05	0	5.379e-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	0.113	0.28772	T	0.013	0.63109	D	0.608	0.39540	P	0.372	0.43610	B	0.045513	0.23530	N	0.409870	0.991891	0.23967	N	2.615	0.76484	M	-2.18	0.86722	D	-3.37	0.66665	D	0.296	0.33469	-0.4763	0.69501	T	0.531	0.82602	D	10	0.19625342	0.35509	T	0.046668	0.62564	D	0.315	0.63694	0.657	0.79482	0.225902525712	0.22197	0.5047815510442809	0.50400	0.338961400606	0.35858	0.477749764919	0.35747	T	0.025271	0.18927	T	-0.239428	0.15423	T	-0.245439	0.50265	T	0.238283216953278	0.22340	T	0.518348	0.16810	T	0.2076074	0.42972	0.2388052	0.49212	0.2076074	0.42972	0.2388052	0.49211	-2.149	0.03800	T	.	.	0.225	0.45617	B	.	.	3.352270	0.46239	22.3	0.87808142508576992	0.17497	0.67521	0.33463	D	AEFDBHCI	0.193814	0.32092	N	-0.253875636709889	0.30948	1.730608	-0.26124798772405	0.29387	1.645958	0.999999842578102	0.74766	0.72623	0.87236	0	0.577304	0.33150	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.68	2.7	0.31007	3.202000	0.50769	7.368000	0.58381	-0.173000	0.11020	0.978000	0.35038	1.000000	0.68203	0.763000	0.36255	0.0:0.7665:0.15:0.0834	8.999	0.35231	813	0.42397	Major facilitator superfamily associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1232.43	37	chr17	8798924	.	C	G	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.973;DP=465;ExcessHet=0;FS=0.745;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.265;SOR=0.811	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1244,0,1272	9	0	1	0
chr17	9600164	9600164	C	T	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon5:c.C530T:p.A177V,CFAP52:NM_145054:exon6:c.C734T:p.A245V	.	433	1088	1	0	0	1	0.000459348	.	.	.	998130	Situs_inversus|not_specified	Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.004	0.0796174494585	0.0002	0.000199681	0.0003	9.612e-05	8.637e-05	0.0002	0	0.0005	0.0011	0	0.0002717	42	154602	rs146845939	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	0.0002	0.0002	0.0002	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	6.543e-05	0.0003	0.0004	0	0	0.0004	0	0	0.784	0.03631	T	0.31	0.19721	T	0.001	0.07471	B	0.002	0.06944	B	0.032047	0.01747	N	1.894180	1	0.08975	N	.	.	.	-2.55	0.89561	D	-0.62	0.18670	N	0.116	0.10483	-0.5802	0.65609	T	0.402	0.75309	T	10	0.015265524	0.00320	T	0.079617	0.73276	D	0.004	0.00165	.	.	0.0611884634855	0.05136	0.18415358526265754	0.18334	0.0998433146772	0.11279	0.305788010359	0.11271	T	0.023701	0.18043	T	-0.467747	0.00878	T	-0.575513	0.14947	T	0.00285619285100528	0.00030	T	0.322368	0.06563	T	0.027074432	0.01850	0.03501601	0.02673	0.027074432	0.01849	0.03501601	0.02672	-1.016	0.01132	T	.	.	0.066	0.02797	B	.;.	.;.	-0.946188	0.00851	0.030	0.64780506705715379	0.07588	0.00525	0.02440	N	AEFDI	0.029829	0.02888	N	-1.89337745688212	0.00354	0.01521652	-1.9570043181808	0.00376	0.01662068	0.117305818003433	0.16798	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	-8.43	0.00833	-1.337000	0.02764	-8.090000	0.01030	-1.542000	0.00977	0.000000	0.06391	0.000000	0.08366	0.531000	0.29730	0.1743:0.4252:0.0:0.4004	8.169	0.30401	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1329.43	35	chr17	9600164	.	C	T	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.908;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.23;SOR=0.647	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1341,0,1678	9	0	1	0
chr17	9854540	9854540	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon5:c.G550A:p.V184M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0226394451289	.	.	1.647e-05	9.61e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs755555439	1.643e-05	1.779e-05	1.499e-05	1.789e-05	0.0002	1.112e-05	9.34e-06	8.862e-05	6.428e-05	5.978e-05	0.0002	0	5.038e-05	0	0.0002	7.202e-06	1.657e-05	2.32e-05	1.314e-05	1.97e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.03	0.60337	D	0.999	0.77913	D	0.946	0.68276	D	0.002790	0.35935	N	0.000000	0.719051	0.34740	D	2.77	0.80896	M	0.25	0.59449	T	-2.16	0.48850	N	0.639	0.66358	-0.2169	0.77234	T	0.343	0.70818	T	10	0.52014196	0.62595	D	0.022639	0.45547	T	0.349	0.67049	0.758	0.88730	0.876816187472	0.87561	0.6075084692550501	0.60682	0.96159394134	0.73036	0.431532740593	0.29418	T	0.347138	0.71530	T	-0.083006	0.39223	T	-0.0877091	0.64335	T	0.508042573928833	0.32925	D	0.880612	0.62701	D	0.11568656	0.27297	0.14238502	0.33874	0.11568656	0.27296	0.14238502	0.33873	-6.745	0.52148	T	.	.	0.141	0.30945	B	.;.;.	.;.;.	5.225633	0.87713	29.3	0.96291396989934952	0.29315	0.89273	0.49638	D	AEFDBI	0.223558	0.34790	N	0.693251569187826	0.79190	7.025691	0.628401266297732	0.77012	6.597964	6.76252899219877E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.99	0.45527	1.219000	0.32083	8.223000	0.76828	0.676000	0.76740	0.873000	0.30851	1.000000	0.68203	0.997000	0.79791	0.0951:0.0:0.7153:0.1896	5.903	0.18221	928	0.17405	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2789.43	36	chr17	9854540	.	G	A	2789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=530;ExcessHet=0;FS=3.136;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.324;SOR=0.926	GT:AD:DP:GQ:PL	0/1:96,113:209:99:2801,0,2161	9	0	1	0
chr17	11797787	11797787	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon43:c.G8414A:p.R2805H	.	424	1077	20	1	0	22	0.0101103	.	.	.	1561437	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	0.00564161697608	0.0044	0.000399361	0.0040	0.0003	0.0027	0	0.0015	0.0060	0.0078	0.0018	0.0037128	574	154602	rs61740362	0.0040	0.0040	0.0039	0.0040	0.0078	0.0039	0.0038	0.0060	0.0054	0.0006	0.0027	0.0217	2.52e-05	0.0018	0.0078	0.0040	0.0051	0.0019	0.0033	0.0033	0.0036	0.0030	0.0048	0.0031	0.0030	0.0044	0.0042	0.0006	0	0.0018	0.0225	0	0.0009	0.0136	0.0048	0.0071	0.0029	0.547	0.06779	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.281482	0.14937	N	0.682618	0.999956	0.19072	N	-0.29	0.03673	N	0.92	0.44461	T	-1.01	0.26639	N	0.278	0.31478	-0.9975	0.30618	T	0.023	0.09968	T	10	0.01188615	0.00258	T	0.005642	0.14591	T	0.066	0.19193	.	.	0.148003135375	0.14442	0.32810229113382516	0.32723	0.110254582644	0.12439	0.246879145503	0.03446	T	0.011606	0.10331	T	-0.623871	0.00104	T	-0.66797	0.07739	T	0.00182899396804826	0.00019	T	0.815218	0.46991	T	0.037609708	0.04853	0.03841771	0.03707	0.03420545	0.03794	0.034699112	0.02582	-4.477	0.30586	T	.	.	0.088	0.11893	B	.;.	.;.	1.973755	0.25071	16.63	0.66938020935660592	0.08206	0.60754	0.31286	D	AEFDBCI	0.225255	0.34937	N	-1.48000715148864	0.01991	0.08747396	-1.37291843448764	0.03543	0.1654875	1.99529064970227E-5	0.02871	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.47	-1.66	0.07824	2.369000	0.43884	-0.636000	0.08101	-1.412000	0.01132	1.000000	0.71638	0.000000	0.08366	0.831000	0.39176	0.3345:0.0:0.5519:0.1135	6.081	0.19162	815	0.41851	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	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	0.006048	0.000000	0.008152	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	464.43	34	chr17	11797787	.	G	A	464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.185;DP=347;ExcessHet=0;FS=2.235;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=1.64;SOR=1.385	GT:AD:DP:GQ:PL	0/1:14,15:29:99:476,0,435	9	0	1	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V	Deafness, autosomal recessive 3, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	54920	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	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	0.001618	0.000000	0.000000	0.000000	0.000000	0.009615	0.000000	0.004032	0.1	1425.14	34	chr17	18148547	.	C	T	1425.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.266;DP=423;ExcessHet=0.2348;FS=2.071;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.383;SOR=0.541	GT:AD:DP:GQ:PL	0/1:51,37:88:99:826,0,1199	8	0	2	0
chr17	18340210	18340210	T	C	exonic	SHMT1	.	nonsynonymous SNV	SHMT1:NM_001281786:exon6:c.A233G:p.K78R,SHMT1:NM_004169:exon7:c.A647G:p.K216R,SHMT1:NM_148918:exon7:c.A647G:p.K216R	.	421	1051	48	2	0	52	0.0241411	.	.	.	704009	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0071	0.0151757	0.0062	0.0199	0.0084	0.0024	0	0.0021	0.0088	0.0167	0.0060025	928	154602	rs78909145	0.0034	0.0034	0.0029	0.0039	0.0473	0.0033	0.0033	0.0427	0.0409	0.0210	0.0076	0.0036	0.0010	5.617e-05	0.0473	0.0013	0.0075	0.0184	0.0081	0.0082	0.0081	0.0082	0.0201	0.0078	0.0076	0.0175	0.0170	0.0185	0	0.0097	0.0061	0.0039	0	0.0374	0.0021	0.0137	0.0201	0.038	0.44358	D	0.043	0.49942	D	0.004	0.22573	B	0.021	0.26717	B	0.000068	0.52346	N	0.206980	0.99021	0.41111	D	1.33	0.33268	L	1.38	0.34050	T	-1.21	0.32791	N	0.151	0.16864	-1.0582	0.12209	T	0.041	0.17827	T	10	0.014129251	0.00298	T	.	.	.	0.035	0.08770	.	.	0.528210255337	0.52467	0.4474451742756085	0.44662	0.152257239178	0.17183	0.435752749443	0.29996	T	0.14153	0.47664	T	-0.557501	0.00263	T	-0.557993	0.16564	T	0.0134239098633414	0.00244	T	0.906609	0.67118	D	0.36433715	0.58164	0.21635857	0.46260	0.36433715	0.58164	0.21635857	0.46259	-6.233	0.50171	T	.	.	0.076	0.06159	B	.;.;.	.;.;.	2.220564	0.28336	17.76	0.9970165076275801	0.80660	0.93487	0.58350	D	AEFGBI	0.453719	0.50673	N	-0.124629802319406	0.36321	2.097945	0.0240949506191221	0.40837	2.443514	0.026629716599066	0.13724	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.57	0.55860	2.194000	0.42301	2.331000	0.32195	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.1416:0.0:0.8584	9.109	0.35876	569	0.70546	.;Serine hydroxymethyltransferase-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.025253	0.032609	0.040936	0.050000	0.094828	0.012195	0.030303	0.05	2398.43	34	chr17	18340210	.	T	C	2398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.704;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.738;SOR=0.667	GT:AD:DP:GQ:PL	0/1:79,100:179:99:2410,0,1888	9	0	1	0
chr17	18971126	18971127	AT	-	exonic	SLC5A10	.	frameshift deletion	SLC5A10:NM_001270648:exon7:c.673_674del:p.M225Vfs*77,SLC5A10:NM_001282417:exon7:c.505_506del:p.M169Vfs*81,SLC5A10:NM_001042450:exon8:c.754_755del:p.M252Vfs*77,SLC5A10:NM_001270649:exon8:c.754_755del:p.M252Vfs*256,SLC5A10:NM_152351:exon8:c.754_755del:p.M252Vfs*81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0005	0.0002	0	0	0	0.0008	0.0011	0.0004	0.0004528	70	154602	rs561246041	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	5.974e-05	2.236e-05	3.826e-05	0	9.381e-05	0.0003	0.0005	0.0006	0.0005	0.0003	0.0003	0.0004	0.0002	0.0008	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0001	0	0	9.416e-05	0	0.0005	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2703.39	36	chr17	18971125	.	CAT	C	2703.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.019;DP=460;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=-0.879;SOR=0.662	GT:AD:DP:GQ:PL	0/1:71,71:142:99:2715,0,2762	9	0	1	0
chr17	18978292	18978292	C	A	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon5:c.G1374T:p.Q458H	.	422	1096	4	0	0	4	0.00182149	.	.	.	715284	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.135	.	0.0071	0.00159744	0.0072	0.0034	0.0009	0	0.0106	0.0106	0.0071	0.0022	0.0061319	948	154602	rs201344489	0.0087	0.0087	0.0090	0.0085	0.0105	0.0086	0.0086	0.0104	0.0103	0.0014	0.0010	0.0007	0	0.0087	0.0007	0.0105	0.0061	0.0017	0.0058	0.0058	0.0066	0.0050	0.0103	0.0055	0.0054	0.0097	0.0094	0.0019	0	0.0011	0.0003	0	0.0066	0.0034	0.0103	0.0028	0.0023	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.141633	0.02890	N	1.902850	0.978812	0.81001	N	2.175	0.60977	M	2.54	0.13916	T	-0.98	0.25986	N	0.581	0.60325	-1.1156	0.02630	T	0.068	0.28047	T	10	0.0068758726	0.00156	T	.	.	.	0.135	0.36572	0.303	0.27164	0.445107144611	0.44131	0.6915094797184749	0.69090	0.705363785392	0.61389	0.476103782654	0.35520	T	0.013796	0.11864	T	-0.449755	0.01133	T	-0.405845	0.32705	T	0.0184836428964912	0.00564	T	0.584142	0.21248	T	0.097884156	0.23080	0.08502965	0.19604	0.097884156	0.23079	0.08502965	0.19604	-3.935	0.22828	T	.	.	0.189	0.41078	B	.;.	.;.	2.836163	0.37408	20.5	0.99701835176360643	0.80660	0.97783	0.77101	D	AEFDBI	0.456287	0.50822	N	0.401328423078303	0.61497	4.351475	0.360696470305894	0.59155	4.090989	0.28062621842752	0.18985	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	3.62	0.40616	0.690000	0.25132	0.207000	0.15917	0.597000	0.34315	0.998000	0.41325	0.970000	0.29701	0.999000	0.91618	0.0:0.7088:0.0:0.2912	8.571	0.32733	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.005051	0.001362	0.002924	0.000000	0.000000	0.006135	0.000000	0.05	1574.43	34	chr17	18978292	.	C	A	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=450;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.848;SOR=0.801	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1586,0,1713	9	0	1	0
chr17	19656369	19656369	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon4:c.C475T:p.L159F,ALDH3A2:NM_001031806:exon4:c.C475T:p.L159F,ALDH3A2:NM_001369136:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369137:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369138:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369139:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369146:exon5:c.C475T:p.L159F	Sjogren-Larsson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.108149247733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.59928	D	0.137	0.33894	T	0.999	0.90584	D	0.988	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	-1.13	0.77719	T	-2.6	0.61722	D	0.569	0.67822	-0.2896	0.75276	T	0.465	0.79301	T	10	0.6122588	0.67509	D	0.108149	0.78454	D	0.612	0.84826	0.555	0.67271	0.871998136743	0.87075	0.6741759750367501	0.67355	0.882093243654	0.69809	0.48786854744	0.37144	T	0.654317	0.89548	D	0.181093	0.72142	D	0.0223517	0.71782	D	0.972841382026672	0.69858	D	0.927507	0.73308	D	0.8255387	0.85595	0.6425163	0.79109	0.8255387	0.85597	0.6425163	0.79110	-4.833	0.35622	T	0.3194412099042188	0.41755	0.293	0.52459	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.572320	0.50323	22.9	0.99873465643319759	0.95076	0.96312	0.68525	D	AEFDBI	0.553788	0.56490	D	0.31923462903431	0.57137	3.879924	0.3029993551499	0.55714	3.734408	0.999982803515169	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	3.73	0.41982	2.842000	0.47931	1.383000	0.26051	0.529000	0.24592	0.990000	0.36992	0.825000	0.27162	0.218000	0.22407	0.0:0.8515:0.0:0.1485	11.152	0.47692	740	0.53092	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.13	44	chr17	19656369	.	C	T	46.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.552;DP=467;ExcessHet=0.2348;FS=30.657;InbreedingCoeff=-0.1096;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.93;SOR=5.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,9:66:47:0|1:19656367_A_G:47,0,2045:19656367	8	0	2	0
chr17	21415750	21415750	C	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C408G:p.F136L	.	381	1118	23	0	0	23	0.0101815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	0.545636291256	.	.	0.0002	0	8.654e-05	0	0	7.552e-05	0	0.0013	.	.	.	rs781875412	2.949e-05	0.0008	2.046e-05	3.863e-05	0.0009	2.222e-05	1.975e-05	0.0003	0.0002	0	4.48e-05	0.0001	0	0	0.0009	7.197e-06	6.646e-05	0.0002	0.0002	0.0006	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0002	0.0023	0	0	0	0.0001	0.0005	0.0033	0.001	0.78490	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	3.48	0.92553	M	-4.71	0.98035	D	-5.88	0.88699	D	0.896	0.89577	1.098	0.99577	D	0.966	0.98927	D	10	0.85857594	0.85065	D	0.545636	0.95789	D	0.958	0.99315	0.927	0.98806	0.878391582298	0.87719	0.9717239762495926	0.97161	0.471099041256	0.46381	0.914981842041	0.97919	D	0.542138	0.84342	D	0.554816	0.95998	D	0.559178	0.95937	D	0.970819294452667	0.69087	D	0.944506	0.78979	D	0.6495103	0.75338	0.6813559	0.81274	0.6495103	0.75339	0.6813559	0.81275	-6.563	0.50770	T	.	.	0.997	0.96728	P	.;.	.;.	4.689164	0.75117	26.3	0.99871891625946685	0.94902	0.98578	0.84304	D	AEFDGBI	0.861279	0.77931	D	0.873581260021997	0.90406	10.38987	0.806051292425285	0.90211	10.30519	0.999999999999999	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.23	5.23	0.72570	6.034000	0.70575	2.765000	0.34631	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.791	0.91939	856	0.34373	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	331.43	227	chr17	21415750	.	C	G	331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.735;DP=2212;ExcessHet=0;FS=1.665;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.22;MQRankSum=-6.963;QD=1.71;ReadPosRankSum=0.733;SOR=0.91	GT:AD:DP:GQ:PL	0/1:165,29:194:99:343,0,6232	9	0	1	0
chr17	21415779	21415779	A	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.A437G:p.Y146C	.	378	1122	22	0	0	22	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.459199930642	.	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0009	.	.	.	rs782138834	6.172e-05	0.0009	4.501e-05	7.861e-05	0.0018	5.107e-05	4.727e-05	0.0010	0.0007	0	4.478e-05	0.0002	0	0	0.0018	1.439e-05	0.0001	0.0006	0.0003	0.0007	0.0003	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0003	0.0032	0	0	0	0.0002	0.0005	0.0044	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	3.475	0.92503	M	-5.12	0.98731	D	-8.83	0.97830	D	0.972	0.98268	1.068	0.98541	D	0.978	0.99310	D	10	0.9367713	0.93006	D	0.459	0.94482	D	0.963	0.99463	.	.	0.806824881749	0.80501	0.9945135510146457	0.99448	0.509770243166	0.49108	0.874587655067	0.93218	D	0.682892	0.90706	D	0.539453	0.95452	D	0.537111	0.95385	D	0.997669994831085	0.92113	D	0.978802	0.92599	D	0.8941172	0.90863	0.7181423	0.83361	0.8941172	0.90864	0.7181423	0.83362	-10.462	0.76628	D	.	.	0.998	0.97160	P	.;.	.;.	5.412050	0.90588	31	0.99816643049989306	0.89973	0.98064	0.79293	D	AEFDGBI	0.951342	0.96581	D	0.964376757520922	0.94538	12.83714	0.886076537140839	0.94936	13.16848	0.999999999998906	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.32	5.32	0.75377	9.158000	0.93873	11.264000	0.91177	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.280	0.73481	856	0.34373	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	530.43	230	chr17	21415779	.	A	G	530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=2249;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.09;MQRankSum=-6.693;QD=2.43;ReadPosRankSum=0.371;SOR=0.811	GT:AD:DP:GQ:PL	0/1:179,39:218:99:542,0,6571	9	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	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:37,43:80:99:482,0,427	0	0	10	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	116.37	319	chr17	41226817	.	A	G	116.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=6.24;DP=2998;ExcessHet=0.2348;FS=33.069;InbreedingCoeff=-0.1428;MLEAC=2;MLEAF=0.111;MQ=56.34;MQRankSum=-9.958;QD=0.18;ReadPosRankSum=-4.657;SOR=4.215	GT:AD:DP:GQ:PL	0/1:288,27:315:99:104,0,11799	7	0	2	1
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.05	3039.43	43	chr17	41487406	.	T	A	3039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.269;DP=532;ExcessHet=0;FS=1.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-1.096;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,80:166:99:0|1:41487406_T_A:3051,0,3289:41487406	9	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.05	3039.43	43	chr17	41487407	.	C	A	3039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=531;ExcessHet=0;FS=1.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.962;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,80:166:99:0|1:41487406_T_A:3051,0,3289:41487406	9	0	1	0
chr17	41973715	41973715	C	T	exonic	CNP	.	nonsynonymous SNV	CNP:NM_001330216:exon4:c.C997T:p.R333W,CNP:NM_033133:exon4:c.C1057T:p.R353W	.	416	1104	2	0	0	2	0.000904977	.	.	.	677380	Marfanoid_habitus_and_intellectual_disability|not_specified	MedGen:CN263130|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0244342854937	8.2e-05	.	6.089e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs376643712	3.906e-05	4.104e-05	4.225e-05	3.584e-05	4.233e-05	3.053e-05	2.788e-05	3.262e-05	2.923e-05	0	2.244e-05	3.841e-05	0	0	0	4.233e-05	0.0001	1.162e-05	3.939e-05	3.937e-05	2.57e-05	5.369e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.537e-05	0	0.0002	0	0	5.879e-05	0	0	0.01	0.56456	D	0.013	0.63109	D	0.992	0.64738	D	0.653	0.52567	P	0.060420	0.22250	N	0.475497	1	0.81001	D	2.52	0.73523	M	0.78	0.49358	T	-3.5	0.68178	D	0.184	0.38129	-0.9197	0.45594	T	0.146	0.47074	T	10	0.26049495	0.43499	T	0.024434	0.47428	T	0.127	0.34888	.	.	0.307950594193	0.30395	0.6876306475253328	0.68703	0.803677743758	0.66365	0.319576263428	0.13357	T	0.354874	0.72196	T	-0.250937	0.13982	T	-0.405239	0.32774	T	0.740791976451874	0.42779	D	0.952505	0.81867	D	0.15831517	0.35624	0.07058756	0.15015	0.15831517	0.35623	0.07058756	0.15015	-7.439	0.57180	T	.	.	0.145	0.31980	B	.;.	.;.	3.521585	0.49371	22.8	0.99893883487197854	0.96742	0.82522	0.41737	D	AEFDBHCI	0.786608	0.71664	D	0.0886656703348942	0.45935	2.841801	0.0539893093190097	0.42265	2.553408	0.999999058152802	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.36	2.16	0.26663	0.767000	0.26238	1.757000	0.28522	0.599000	0.40250	0.711000	0.28732	1.000000	0.68203	0.938000	0.47775	0.621:0.379:0.0:0.0	13.511	0.60964	482	0.77288	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	1304.43	34	chr17	41973715	.	C	T	1304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.738;DP=411;ExcessHet=0;FS=3.796;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.191;SOR=0.52	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1316,0,967	9	0	1	0
chr17	42780907	42780907	T	G	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_032387:exon1:c.T209G:p.L70R	Pseudohypoaldosteronism, type IIB, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.137239746654	7.8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs369689386	1.512e-05	1.505e-05	1.641e-05	1.381e-05	0.0007	9.9e-06	8.45e-06	0.0002	0.0001	2.988e-05	0	7.658e-05	0	0	0.0007	8.995e-06	3.316e-05	3.478e-05	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	6.534e-05	0	0.0002	0	0	2.941e-05	0	0.0002	0.002	0.72154	D	0.199	0.27679	T	0.251	0.31212	B	0.055	0.25995	B	0.002013	0.37457	N	0.000000	0.98373	0.24861	N	2.34	0.67151	M	-0.54	0.70950	T	-2.09	0.47683	N	0.411	0.45142	-0.8530	0.51760	T	0.188	0.53797	T	10	0.1953173	0.35378	T	0.13724	0.81973	D	0.240	0.54500	.	.	0.663891511034	0.66106	0.4785229976137827	0.47772	0.943704141384	0.72318	0.830872178078	0.86696	D	0.252289	0.62266	T	-0.0594846	0.42989	T	-0.222592	0.52486	T	0.596488118171692	0.36261	D	0.790321	0.43084	T	0.6176535	0.73638	0.5936172	0.76412	0.6176535	0.73639	0.5936172	0.76413	-3.574	0.17482	T	.	.	0.231	0.46331	B	.	.	3.506075	0.49079	22.7	0.99641354718926123	0.76695	0.19171	0.20556	N	AEFDBHCI	0.082066	0.16612	N	-0.300693489613604	0.29123	1.612227	-0.211847109483685	0.31109	1.757572	0.999999893700428	0.74766	0.437478	0.07067	0	0.514364	0.08380	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.37	4.3	0.50540	-0.274000	0.08569	5.926000	0.51241	0.647000	0.52776	0.000000	0.06391	1.000000	0.68203	0.990000	0.65344	0.0:0.0844:0.1609:0.7547	6.371	0.20686	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	218.43	37	chr17	42780907	.	T	G	218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.646;DP=319;ExcessHet=0;FS=3.393;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=1.38;SOR=1.18	GT:AD:DP:GQ:PL	0/1:20,11:31:99:230,0,536	9	0	1	0
chr17	43013593	43013593	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon5:c.G493A:p.G165R,IFI35:NM_005533:exon5:c.G499A:p.G167R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.101901308569	7.7e-05	0.00219649	0.0007	0	0	0.0030	0	0.0001	0	0.0031	0.0006792	105	154602	rs202144105	0.0003	0.0003	0.0003	0.0004	0.0030	0.0003	0.0003	0.0027	0.0026	0.0001	2.236e-05	0	0.0022	0	0.0010	4.047e-05	0.0015	0.0030	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0	0.0033	0	0	5.881e-05	0.0009	0.0021	0.004	0.68238	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000205	0.47681	D	0.186798	0.999999	0.58761	D	3.27	0.90083	M	-0.26	0.67187	T	-6.91	0.93329	D	0.851	0.84713	0.239	0.86557	D	0.547	0.83388	D	10	0.07743019	0.12220	T	0.101901	0.77505	D	0.651	0.86836	0.895	0.97551	0.827844450224	0.82621	0.8023113194074941	0.80185	0.435705718872	0.43672	0.524693250656	0.42287	T	0.315615	0.68721	T	0.0409711	0.57172	T	0.283025	0.87286	D	0.261908640873331	0.23398	T	0.852615	0.53799	D	0.70661473	0.78421	0.5942137	0.76446	0.70661473	0.78422	0.5942137	0.76447	-7.277	0.56031	T	.	.	0.405	0.62271	A	.;.	.;.	5.126755	0.85775	28.7	0.99921900713786449	0.98787	0.95244	0.63973	D	AEFDGBCI	0.910135	0.86765	D	0.736986946984636	0.82054	7.669186	0.616017809461332	0.76103	6.429718	0.999999997459863	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.93	4.93	0.64394	7.018000	0.76146	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	14.994	0.71068	316	0.87161	Nmi/IFP 35 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1654.43	95	chr17	43013593	.	G	A	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=1248;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.719;SOR=0.757	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1666,0,2101	9	0	1	0
chr17	59194845	59194845	A	G	exonic	PRR11	.	nonsynonymous SNV	PRR11:NM_018304:exon6:c.A734G:p.E245G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00257480357001	.	0.000199681	0.0001	0	0	0.0008	0	0.0001	0	0.0002	0.0001229	19	154602	rs568463733	9.932e-05	9.987e-05	8.725e-05	0.0001	0.0011	8.589e-05	8.058e-05	0.0008	0.0007	5.979e-05	0	0	0.0011	0.0002	0	5.314e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0017	0.0001	9.696e-05	0.0009	0.0007	7.217e-05	0	0.0001	0	0.0017	9.414e-05	0	0.0001	0.0005	0.0002	0.225	0.18626	T	0.228	0.25286	T	0.996	0.68779	D	0.906	0.64351	P	0.001400	0.39175	N	0.178289	0.993398	0.23720	N	2.215	0.62545	M	.	.	.	-2.86	0.60188	D	0.192	0.21056	-0.9140	0.46351	T	0.174	0.51785	T	9	0.033124626	0.01481	T	0.002575	0.05178	T	0.066	0.19193	.	.	0.477219869099	0.47349	0.21555314127899805	0.21471	0.671117074866	0.59445	0.381732195616	0.22502	T	0.100084	0.40553	T	-0.356801	0.04314	T	-0.330848	0.41374	T	0.0779054724494353	0.09716	T	0.547445	0.18775	T	0.094204396	0.22142	0.17172869	0.39377	0.094204396	0.22142	0.17172869	0.39376	-3.513	0.16614	T	.	.	0.107	0.19998	B	.;.	.;.	3.984455	0.58592	24.0	0.99824266921713234	0.90677	0.85679	0.44838	D	AEFGBI	0.170257	0.29715	N	0.336736464517076	0.58042	3.974396	0.313601426602863	0.56338	3.797024	0.856306864564504	0.25140	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.601000	0.45912	3.782000	0.39794	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.684000	0.33659	1.0:0.0:0.0:0.0	13.559	0.61237	0	0.99858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	863.43	38	chr17	59194845	.	A	G	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.254;DP=406;ExcessHet=0;FS=3.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.42;SOR=0.58	GT:AD:DP:GQ:PL	0/1:24,34:58:99:875,0,580	9	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	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	.	.	.	.	.	.	.	.	0.2	277.63	33	chr17	59737489	.	A	C	277.63	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.301;DP=679;ExcessHet=1.5895;FS=224.077;InbreedingCoeff=-0.2515;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=0.862;SOR=9.94	GT:AD:DP:GQ:PL	0/1:83,34:117:58:58,0,1224	6	0	4	0
chr17	60265460	60265460	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon9:c.T942G:p.D314E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00733263283939	.	.	3.314e-05	0	0	0	0	4.517e-05	0	6.118e-05	2.59e-05	4	154602	rs761800769	2.552e-05	2.531e-05	2.199e-05	2.909e-05	4.667e-05	1.883e-05	1.644e-05	1.59e-05	1.038e-05	0	0	0	0	0.0002	0	1.904e-05	3.336e-05	4.667e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.411e-05	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.03527	T	0.002	0.09854	B	0.003	0.08700	B	0.010457	0.29920	N	0.404849	0.982645	0.26591	N	0	0.06538	N	-0.21	0.66294	T	0.39	0.05810	N	0.199	0.23632	-1.0002	0.29860	T	0.092	0.34983	T	10	0.09371677	0.16608	T	0.007333	0.19442	T	0.037	0.09474	0.335	0.32329	0.416204396243	0.41236	0.0867721144153729	0.08611	0.275674334688	0.30043	0.424254953861	0.28422	T	0.017813	0.14467	T	-0.255131	0.13476	T	-0.496597	0.22701	T	0.0283072766994533	0.01732	T	0.825917	0.48908	T	0.029829772	0.02543	0.028195513	0.01033	0.029829772	0.02542	0.028195513	0.01033	-4.332	0.43995	T	.	.	0.115	0.22969	B	.;.;.	.;.;.	2.635029	0.34271	19.58	0.38158535885883749	0.02557	0.76997	0.37811	D	AEFGBI	0.149322	0.27339	N	-0.718640537986293	0.15498	0.7815753	-0.528061741343322	0.21392	1.157052	6.11890489439074E-4	0.07460	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.97	2.58	0.30011	0.407000	0.20770	1.775000	0.28667	0.691000	0.84096	0.968000	0.34134	0.999000	0.35428	0.998000	0.85391	0.6975:0.0:0.1605:0.142	4.706	0.12228	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	.	.	.	.	.	.	.	.	0.05	642.43	34	chr17	60265460	.	A	C	642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.947;SOR=0.732	GT:AD:DP:GQ:PL	0/1:40,28:68:99:654,0,934	9	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	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:37,21:58:45:45,0,553	2	0	6	2
chr17	65536378	65536378	C	A	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon7:c.G1888T:p.A630S,AXIN2:NM_004655:exon8:c.G2083T:p.A695S	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	3	1516	3	0	0	3	0.000988468	.	.	.	402859	Oligodontia-cancer_predisposition_syndrome|not_provided|AXIN2-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|Malignant_tumor_of_breast	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MedGen:C3661900|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0259602392288	7.7e-05	0.000399361	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs140510381	9.648e-05	9.645e-05	6.536e-05	0.0001	0.0014	8.312e-05	7.852e-05	0.0009	0.0008	0	2.237e-05	0	0	0	0.0014	2.698e-05	0.0001	0.0011	5.907e-05	5.905e-05	3.853e-05	8.053e-05	0.0006	3.074e-05	2.208e-05	0.0002	8.992e-05	2.404e-05	0	6.534e-05	0	0	0	0	5.88e-05	0	0.0006	0.494	0.20381	T	0.576	0.10572	T	0.635	0.40310	P	0.14	0.33554	B	0.000031	0.55875	D	0.157578	0.999274	0.48716	D	.	.	.	-0.1	0.64264	T	-0.37	0.14782	N	0.565	0.78546	-0.9280	0.44429	T	0.151	0.47909	T	10	0.0501076	0.04695	T	0.02596	0.48901	D	0.203	0.48915	.	.	0.548022476061	0.54458	0.3028207375143608	0.30195	0.438787105072	0.43904	0.656439304352	0.60900	T	0.252994	0.62346	T	-0.196533	0.21306	T	-0.105523	0.62967	T	0.0572892616370493	0.06736	T	0.923708	0.72135	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35726	B	.;.;.	.;.;.	3.861600	0.56000	23.7	0.99037057214820112	0.50939	0.95258	0.64026	D	AEFDGBCI	0.582171	0.58190	D	0.144223376187249	0.48538	3.064919	0.282852381203657	0.54538	3.618497	0.999999999956578	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.41	5.41	0.78313	2.494000	0.44988	7.572000	0.60737	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9237:0.0:0.0763	12.529	0.55453	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1287.43	34	chr17	65536378	.	C	A	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.057;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.592;SOR=0.749	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1299,0,1146	9	0	1	0
chr17	67825999	67825999	G	-	exonic	BPTF	.	frameshift deletion	BPTF:NM_004459:exon1:c.275delG:p.R95Efs*142,BPTF:NM_182641:exon1:c.275delG:p.R95Efs*142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	8.368e-05	0.0001	0.0002	7.863e-05	7.129e-05	6.598e-05	5.792e-05	0.0002	0	0.0001	0.0002	0.0005	0	8.82e-05	4.74e-05	0	0	1.378e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	34.54	2	chr17	67825998	.	CG	C	34.54	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:43:43,0,104	7	0	1	2
chr17	69301211	69301213	TAA	-	exonic	ABCA5	.	nonframeshift deletion	ABCA5:NM_018672:exon8:c.1193_1195del:p.I398del,ABCA5:NM_172232:exon9:c.1193_1195del:p.I398del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1416.39	33	chr17	69301210	.	GTAA	G	1416.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.22;DP=375;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.85;ReadPosRankSum=-0.678;SOR=0.527	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1428,0,983	9	0	1	0
chr17	74253227	74253227	C	T	exonic	TTYH2	.	nonsynonymous SNV	TTYH2:NM_052869:exon6:c.C443T:p.P148L,TTYH2:NM_001330453:exon12:c.C1343T:p.P448L,TTYH2:NM_032646:exon12:c.C1406T:p.P469L	.	420	1098	4	0	0	4	0.00181818	.	.	.	2431664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0869067520025	7.7e-05	.	2.512e-05	0	0	0	0	4.54e-05	0	0	4.53e-05	7	154602	rs139572666	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.446e-05	0.0002	0.0002	0	4.634e-05	7.73e-05	0.0002	0	0.0007	0.0001	0.0002	0.0003	4.599e-05	4.597e-05	6.422e-05	2.69e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0.0004	0.003	0.68238	D	0.003	0.76473	D	0.999	0.90584	D	0.881	0.66815	P	0.000001	0.84330	D	0.056131	1	0.81001	D	2.425	0.70256	M	2.77	0.26588	T	-4.11	0.81107	D	0.588	0.62018	-0.8381	0.52773	T	0.153	0.48343	T	10	0.6229635	0.68083	D	0.086907	0.74831	D	0.340	0.66202	.	.	0.347217280506	0.34334	0.6014720877794381	0.60078	0.469923097092	0.46284	0.563187539577	0.47718	T	0.376394	0.78668	T	-0.139307	0.30000	T	-0.145733	0.59619	T	0.643932580947876	0.38203	D	0.927707	0.73352	D	0.29059124	0.52047	0.24117856	0.49509	0.29059124	0.52047	0.24117856	0.49508	-6.77	0.52336	T	.	.	0.096	0.16800	B	.;.;.	.;.;.	4.664345	0.74481	26.2	0.99868715557063359	0.94637	0.99226	0.93090	D	AEFDGBI	0.913819	0.87634	D	0.611169462980644	0.73879	6.038952	0.528498571352983	0.69915	5.429048	0.999999982222728	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.65	4.65	0.57626	7.626000	0.82344	4.839000	0.45267	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.623000	0.31974	0.0:1.0:0.0:0.0	16.463	0.83913	726	0.54788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1217.43	40	chr17	74253227	.	C	T	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=427;ExcessHet=0;FS=3.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.685;SOR=0.415	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1229,0,1013	9	0	1	0
chr17	75740005	75740005	G	A	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon19:c.G2380A:p.V794I,ITGB4:NM_000213:exon20:c.G2380A:p.V794I,ITGB4:NM_001005731:exon20:c.G2380A:p.V794I,ITGB4:NM_001321123:exon20:c.G2380A:p.V794I	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	1519	3	0	0	3	0.000986518	.	.	.	2687826	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.0213210168191	.	.	0.0001	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs754958134	6.503e-05	6.498e-05	3.814e-05	9.219e-05	0.0010	5.432e-05	5.045e-05	0.0008	0.0008	0	0	0	0	0	0.0005	0	6.624e-05	0.0010	4.598e-05	4.597e-05	2.569e-05	6.723e-05	0.0012	2.109e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.002	0.11217	B	0.000972	0.40836	N	0.210842	0.963823	0.26008	N	-0.515	0.02571	N	-0.84	0.74265	T	0.03	0.06612	N	0.149	0.27910	-0.9893	0.32778	T	0.134	0.44739	T	10	0.020162344	0.00460	T	0.021321	0.44070	T	0.136	0.36778	0.21	0.12781	0.611956068543	0.60883	0.11414468944981494	0.11342	0.23204119155	0.25754	0.286404758692	0.08401	T	0.053916	0.29577	T	-0.485844	0.00685	T	-0.535413	0.18750	T	0.018950384745973	0.00605	T	0.843016	0.51993	T	0.022301989	0.00884	0.024824303	0.00509	0.022301989	0.00884	0.024824303	0.00509	-4.615	0.33125	T	0.08582318276270434	0.04878	0.070	0.06479	B	.;.;.;.	.;.;.;.	1.429213	0.18473	13.75	0.94573622522922873	0.25110	0.63771	0.32194	D	AEFDGBHCI	0.221504	0.34612	N	-0.807813043537061	0.13110	0.6435928	-0.610343478022644	0.19227	1.030661	0.0554815673064774	0.15018	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.94	1.34	0.21018	3.705000	0.54553	3.527000	0.38932	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.7635:0.0:0.2365:0.0	8.394	0.31709	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	.	.	.	.	.	.	.	.	0.05	900.43	33	chr17	75740005	.	G	A	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.106;DP=403;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.711;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,42:90:99:912,0,1163	9	0	1	0
chr17	75828796	75828796	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon31:c.G3142A:p.A1048T	Hemophagocytic lymphohistiocytosis, familial, 3	2	1516	4	0	0	4	0.00131752	.	.	.	531897	Inborn_genetic_diseases|Familial_hemophagocytic_lymphohistiocytosis_3	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0277504685914	.	.	0.0002	0	0	0.0020	0	0	0	0.0003	1.94e-05	3	154602	rs758781229	4.668e-05	6.362e-05	3.541e-05	5.827e-05	0.0007	3.753e-05	3.419e-05	0.0002	9.51e-05	0	2.791e-05	0	2.773e-05	0	0.0007	3.431e-05	0.0002	0.0002	3.282e-05	3.281e-05	6.423e-05	0	5.88e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.88e-05	0	0	0.056	0.40319	T	0.172	0.30241	T	0.414	0.35185	B	0.026	0.20792	B	0.190540	0.16859	N	0.601504	1	0.08975	N	1.735	0.44892	L	-0.36	0.69027	T	-0.56	0.17003	N	0.138	0.14054	-1.0055	0.28307	T	0.132	0.44386	T	10	0.02714479	0.00866	T	0.02775	0.50522	D	0.081	0.23632	0.18	0.08751	0.451118754121	0.44735	0.415447528461492	0.41460	0.0938026689721	0.10595	0.332325816154	0.15286	T	0.076403	0.35409	T	-0.221117	0.17842	T	-0.555396	0.16812	T	0.0709956644946415	0.08789	T	0.585041	0.21304	T	0.04067574	0.05850	0.063032225	0.12424	0.04067574	0.05850	0.063032225	0.12423	-3.383	0.16125	T	0.0942750276413584	0.06291	0.075	0.08368	B	.;.	.;.	1.761488	0.22403	15.61	0.9873053746483802	0.45348	0.01162	0.04188	N	AEFDGBHI	0.047312	0.07954	N	-0.957916849672042	0.09515	0.4507193	-0.968812711271269	0.10490	0.5286572	0.992534279552083	0.32874	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.65	-1.26	0.08892	0.538000	0.22869	-1.368000	0.05605	-0.319000	0.05888	0.003000	0.16062	0.000000	0.08366	0.951000	0.49849	0.0:0.4009:0.0:0.5991	11.174	0.47815	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	0.005160	0.005376	0.004144	0.009091	0.050000	0.008621	0.006289	0.007692	0.05	1213.43	36	chr17	75828796	.	C	T	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=424;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.34;SOR=0.647	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1225,0,1181	9	0	1	0
chr17	78137275	78137275	G	A	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon10:c.G1168A:p.V390I	Epidermodysplasia verruciformis, Autosomal recessive	1	1498	21	2	0	25	0.00827541	.	.	.	467600	TMC8-related_disorder|Epidermodysplasia_verruciformis,_susceptibility_to,_2|Epidermodysplasia_verruciformis|not_provided|Epidermodysplasia_verruciformis,_susceptibility_to,_1	.|MONDO:MONDO:0032614,MedGen:C4722258,OMIM:618231|MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302|MedGen:C3661900|MONDO:MONDO:0100045,MedGen:C4722564,OMIM:226400,Orphanet:302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.00410324993569	0.0005	0.000399361	0.0010	0	0.0012	0	0	0.0013	0.0011	0.0013	0.0010155	157	154602	rs150546646	0.0010	0.0010	0.0009	0.0010	0.0182	0.0009	0.0009	0.0154	0.0143	0.0002	0.0015	0.0039	0	5.633e-05	0.0182	0.0008	0.0014	0.0016	0.0008	0.0008	0.0007	0.0009	0.0025	0.0007	0.0007	0.0014	0.0011	0.0002	0	0.0010	0.0029	0	9.423e-05	0.0136	0.0010	0.0024	0.0025	0.048	0.40068	D	0.021	0.58089	D	0.001	0.07471	B	0.0	0.01387	B	0.011672	0.29444	N	0.401306	0.999988	0.18198	N	0.46	0.12951	N	0.84	0.47477	T	0.31	0.04022	N	0.101	0.09207	-1.0604	0.11656	T	0.056	0.23450	T	10	0.0096693635	0.00218	T	0.004103	0.09806	T	0.034	0.08419	.	.	0.130388298395	0.12655	0.13204019004798737	0.13129	0.130157849195	0.14680	0.437267661095	0.30204	T	0.003801	0.03212	T	-0.571598	0.00216	T	-0.629215	0.10474	T	0.00663798197383947	0.00074	T	0.562444	0.21221	T	0.030031534	0.02596	0.048360277	0.07165	0.03349852	0.03579	0.04933667	0.07518	-6.709	0.51878	T	0.11291909417836925	0.09823	0.073	0.05360	B	.;.	.;.	1.783694	0.22680	15.72	0.91118520682630066	0.20371	0.58023	0.30531	D	AEFBHCI	0.158626	0.28431	N	-1.18216701621197	0.05270	0.2398276	-1.06972452013257	0.08301	0.4075489	0.99999986114992	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.612816	0.40813	0	0.584449	0.35598	0	.	.	4.28	0.753	0.17552	0.314000	0.19182	2.676000	0.33982	-0.741000	0.03665	0.231000	0.24654	0.999000	0.35428	0.613000	0.31716	0.0:0.1697:0.151:0.6793	5.308	0.15122	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.010101	0.012262	0.017544	0.000000	0.000000	0.006098	0.000000	0.05	1007.43	33	chr17	78137275	.	G	A	1007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=422;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.2;SOR=0.471	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1019,0,1303	9	0	1	0
chr17	81103988	81103988	C	T	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385157:exon4:c.C217T:p.R73C,BAIAP2:NM_001385159:exon4:c.C217T:p.R73C,BAIAP2:NM_001385150:exon7:c.C712T:p.R238C,BAIAP2:NM_001385151:exon7:c.C712T:p.R238C,BAIAP2:NM_001385152:exon7:c.C712T:p.R238C,BAIAP2:NM_001385153:exon7:c.C712T:p.R238C,BAIAP2:NM_001385154:exon7:c.C712T:p.R238C,BAIAP2:NM_001385155:exon7:c.C712T:p.R238C,BAIAP2:NM_001385156:exon7:c.C712T:p.R238C,BAIAP2:NM_001385158:exon7:c.C217T:p.R73C,BAIAP2:NM_001385147:exon8:c.C772T:p.R258C,BAIAP2:NM_001385149:exon8:c.C772T:p.R258C,BAIAP2:NM_001144888:exon9:c.C946T:p.R316C,BAIAP2:NM_001385127:exon9:c.C946T:p.R316C,BAIAP2:NM_001385128:exon9:c.C946T:p.R316C,BAIAP2:NM_001385131:exon9:c.C946T:p.R316C,BAIAP2:NM_001385138:exon9:c.C946T:p.R316C,BAIAP2:NM_001385139:exon9:c.C946T:p.R316C,BAIAP2:NM_001385140:exon9:c.C946T:p.R316C,BAIAP2:NM_001385141:exon9:c.C946T:p.R316C,BAIAP2:NM_001385144:exon9:c.C940T:p.R314C,BAIAP2:NM_001385145:exon9:c.C946T:p.R316C,BAIAP2:NM_001385146:exon9:c.C946T:p.R316C,BAIAP2:NM_001385148:exon9:c.C772T:p.R258C,BAIAP2:NM_006340:exon9:c.C946T:p.R316C,BAIAP2:NM_017450:exon9:c.C946T:p.R316C,BAIAP2:NM_017451:exon9:c.C946T:p.R316C,BAIAP2:NM_001385129:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385130:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385132:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385133:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385134:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385135:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385136:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385137:exon10:c.C1021T:p.R341C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0503443484249	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351746625	8.215e-06	8.209e-06	6.811e-06	9.633e-06	2.319e-05	4.38e-06	3.46e-06	3.85e-06	2.76e-06	0	0	0	0	1.91e-05	0	8.094e-06	0	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.164	0.24090	T	0.183	0.44106	T	0.986	0.64738	D	0.541	0.52249	P	0.669181	0.10357	N	0.843085	0.954833	0.42649	D	1.39	0.34934	L	0.77	0.49642	T	-1.01	0.28084	N	0.536	0.57433	-1.0135	0.25816	T	0.137	0.45356	T	10	0.19489345	0.35319	T	0.050344	0.64202	D	0.078	0.22779	0.287	0.24601	0.828616411752	0.82699	0.5786446564406453	0.57793	1.53347345661	0.87619	0.477722197771	0.35743	T	0.238088	0.60592	T	-0.171319	0.25036	T	-0.483864	0.24036	T	0.766942977905273	0.44257	D	0.970103	0.89229	D	0.10961587	0.25914	0.06613475	0.13503	0.10961587	0.25914	0.06613475	0.13503	-8.017	0.61601	D	.	.	0.112	0.40489	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.808967	0.78206	26.9	0.99861370394027782	0.94002	0.79201	0.39202	D	AEFBI	0.504224	0.53588	D	0.258682633588004	0.54069	3.573539	0.302891368488111	0.55707	3.733754	0.932966822118829	0.27109	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.07	4.04	0.46262	1.133000	0.31043	5.905000	0.50941	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.994000	0.71098	0.3039:0.587:0.1091:0.0	8.991	0.35183	.	.	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1171.43	35	chr17	81103988	.	C	T	1171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.858;DP=428;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.885;SOR=0.585	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1183,0,1242	9	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I,BAHCC1:NM_001291324:exon25:c.G6085A:p.V2029I	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.005051	0.008152	0.002924	0.000000	0.000000	0.012195	0.034091	0.1	3125.14	36	chr17	81460363	.	G	A	3125.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.99;DP=584;ExcessHet=0.2348;FS=0.44;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.304;SOR=0.652	GT:AD:DP:GQ:PL	0/1:79,76:155:99:1807,0,1821	8	0	2	0
chr17	82520042	82520042	C	T	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon1:c.C154T:p.R52C	.	472	1044	6	0	0	6	0.00286533	.	.	.	610472	not_provided|Premature_ovarian_insufficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.63785358001	0.0044	0.00199681	0.0038	0.0015	0.0032	0	0.0018	0.0055	0.0072	0.0016	0.0031759	491	154602	rs146516291	0.0047	0.0046	0.0049	0.0045	0.0053	0.0046	0.0046	0.0052	0.0052	0.0012	0.0036	0.0030	3.166e-05	0.0018	0.0036	0.0053	0.0047	0.0021	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0057	0.0053	0.0010	0	0.0068	0.0044	0	0.0024	0	0.0054	0.0015	0.0015	0.047	0.40319	D	0.112	0.37037	T	0.999	0.77913	D	0.772	0.56930	P	0.000003	0.62929	U	0.000000	0.999843	0.49770	D	0.895	0.22405	L	1.25	0.36512	T	-3.09	0.63438	D	0.344	0.38541	-1.1021	0.03846	T	0.067	0.27468	T	10	0.008000493	0.00182	T	0.637854	0.96906	D	0.234	0.53644	.	.	0.479466957844	0.47577	0.8517850827362373	0.85140	2.50374879105	0.97662	0.817937076092	0.84712	D	0.53292	0.83869	D	0.0309919	0.55856	T	0.27297	0.86740	D	0.0352724272889134	0.02855	T	0.927407	0.73262	D	0.2886949	0.51870	0.21817738	0.46511	0.2886949	0.51870	0.21817738	0.46510	-10.567	0.77231	D	.	.	0.774	0.76121	P	.	.	4.123439	0.61646	24.4	0.99873166464470431	0.95076	0.34924	0.25182	N	AEFDBHCI	0.397623	0.47362	N	0.0443036584654081	0.43881	2.672473	-0.0157698715275802	0.39002	2.306035	0.999999967480258	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	3.51	1.46	0.21769	3.040000	0.49489	3.156000	0.36547	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.1701:0.7359:0.0:0.094	7.124	0.24641	.	.	Forkhead-associated (FHA) 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	0.004028	0.010101	0.006793	0.005882	0.000000	0.000000	0.003049	0.003788	0.05	933.43	36	chr17	82520042	.	C	T	933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.091;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.81;SOR=0.593	GT:AD:DP:GQ:PL	0/1:25,41:66:99:945,0,545	9	0	1	0
chr18	7037642	7037642	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.C1673T:p.A558V	Poretti-Boltshauser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	727799	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00297339597076	0.0045	0.00179712	0.0037	0.0020	0.0020	0	0.0008	0.0058	0.0022	0.0006	0.0040814	631	154602	rs143997842	0.0060	0.0060	0.0062	0.0059	0.0073	0.0059	0.0059	0.0072	0.0071	0.0017	0.0021	0.0012	0	0.0023	0.0009	0.0073	0.0056	0.0008	0.0034	0.0034	0.0039	0.0029	0.0058	0.0032	0.0031	0.0053	0.0051	0.0019	0	0.0012	0.0017	0	0.0008	0	0.0058	0.0028	0.0015	0.263	0.16412	T	0.285	0.21343	T	0.004	0.12183	B	0.002	0.06944	B	0.678899	0.06080	N	1.187530	1	0.08975	N	0.6	0.15550	N	2.18	0.18875	T	-1.2	0.30555	N	0.06	0.03175	-0.9808	0.34817	T	0.011	0.04274	T	10	0.0038349926	0.00072	T	0.002973	0.06339	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.2621892590172665	0.26131	0.107730605471	0.12152	0.244025737047	0.03165	T	0.046069	0.27314	T	-0.698991	0.00037	T	-0.770289	0.02758	T	0.0013587098851226	0.00014	T	0.485151	0.14792	T	0.019163352	0.00443	0.040829208	0.04502	0.019163352	0.00442	0.040829208	0.04502	-2.921	0.09355	T	.	.	0.072	0.04396	B	.	.	-0.032086	0.04066	0.946	0.94307563734160238	0.24622	0.04224	0.09741	N	AEFBI	0.062944	0.12132	N	-1.28727501896598	0.03828	0.1716946	-1.34773399438146	0.03833	0.1795877	0.999996033034349	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.53	-6.03	0.02001	-1.850000	0.01763	-1.961000	0.04429	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.383:0.0:0.2252:0.3918	5.922	0.18327	900	0.24599	Laminin IV	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1530.43	38	chr18	7037642	.	G	A	1530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.954;DP=513;ExcessHet=0;FS=5.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-2.629;SOR=0.453	GT:AD:DP:GQ:PL	0/1:96,71:167:99:1542,0,2325	9	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	53060.1	364	chr18	9887397	.	C	*	53060.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.52;DP=4775;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=59.51;MQRankSum=-0.379;QD=15.12;ReadPosRankSum=-0.189;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,145:385:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:5236,0,9350:9887391	4	0	6	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	461.14	36	chr18	12814235	.	C	T	461.14	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-1.277;DP=363;ExcessHet=4.5998;FS=156.993;InbreedingCoeff=-0.5318;MLEAC=7;MLEAF=0.389;MQ=59.96;MQRankSum=0;QD=1.97;ReadPosRankSum=0.222;SOR=8.425	GT:AD:DP:GQ:PL	0/1:25,13:38:62:62,0,401	3	0	6	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:105,34:139:99:577,0,2709	2	0	8	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:36,29:65:99:162,0,469	1	0	7	2
chr18	43273924	43273924	C	T	exonic	SYT4	.	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G505A:p.A169T	.	436	1066	17	3	0	23	0.0106729	.	.	.	741358	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	.	0.00359425	0.0023	9.688e-05	0.0006	0	0	0.0004	0.0022	0.0142	0.001934	299	154602	rs200418581	0.0010	0.0010	0.0006	0.0014	0.0126	0.0010	0.0009	0.0120	0.0118	2.987e-05	0.0011	0.0006	2.521e-05	5.618e-05	0.0068	0.0002	0.0013	0.0126	0.0009	0.0009	0.0006	0.0011	0.0126	0.0007	0.0007	0.0101	0.0092	0.0001	0	0.0022	0.0006	0	0	0.0102	0.0003	0.0033	0.0126	0.088	0.32296	T	0.199	0.27679	T	0.759	0.43487	P	0.193	0.36509	B	0.000001	0.84330	N	0.094256	1	0.81001	D	0.47	0.13106	N	3.17	0.07599	T	-2.6	0.55983	D	0.251	0.28381	-0.8488	0.52051	T	0.012	0.04558	T	10	0.007933378	0.00180	T	.	.	.	0.118	0.32913	.	.	0.33835085245	0.33439	0.5888931291434116	0.58819	0.265606145851	0.29113	0.464711070061	0.33955	T	0.194227	0.54994	T	-0.543455	0.00319	T	-0.541736	0.18126	T	0.0338073278630554	0.02604	T	0.774123	0.42343	T	0.23277618	0.46070	0.2432143	0.49760	0.23277618	0.46070	0.2432143	0.49758	-7.445	0.57222	T	.	.	0.377	0.69653	A	.;.	.;.	2.924898	0.38838	20.8	0.97077810241835594	0.32268	0.95618	0.65444	D	AEFBI	.	.	.	-0.280176094789357	0.29914	1.663	-0.155317752507187	0.33205	1.896954	0.0100621963047524	0.11960	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.87	3.16	0.35406	3.214000	0.50863	1.791000	0.28799	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.8085:0.0:0.1915	11.714	0.50907	801	0.44448	Synaptotagmin|C2 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.05	1044.43	35	chr18	43273924	.	C	T	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.366;DP=392;ExcessHet=0;FS=4.223;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.143;SOR=0.343	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1056,0,1165	9	0	1	0
chr18	54361983	54361985	TAA	-	exonic	C18orf54	.	nonframeshift deletion	C18orf54:NM_001370309:exon3:c.624_626del:p.N210del,C18orf54:NM_001288980:exon4:c.624_626del:p.N210del,C18orf54:NM_001288981:exon4:c.624_626del:p.N210del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0022	0	0	0.0001	0	1.748e-05	0.0012	0.0155	0.0016429	254	154602	rs577971817	0.0008	0.0008	0.0005	0.0011	0.0125	0.0007	0.0007	0.0118	0.0116	2.988e-05	0	0	5.045e-05	0	0	8.096e-06	0.0008	0.0125	0.0004	0.0004	0.0002	0.0006	0.0127	0.0003	0.0003	0.0101	0.0092	0	0	0	0	0	0	0	0	0	0.0127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3036.39	34	chr18	54361982	.	CTAA	C	3036.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.547;DP=498;ExcessHet=0;FS=0.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-1.676;SOR=0.774	GT:AD:DP:GQ:PL	0/1:82,79:161:99:3048,0,3191	9	0	1	0
chr18	59225572	59225572	T	G	exonic	GRP	.	nonsynonymous SNV	GRP:NM_001012512:exon2:c.T220G:p.Y74D,GRP:NM_001012513:exon2:c.T220G:p.Y74D,GRP:NM_002091:exon2:c.T220G:p.Y74D	.	434	1083	5	0	0	5	0.00230309	.	.	.	2350375	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00674750783151	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.058e-05	0.0001229	19	154602	rs374866055	0.0001	0.0001	0.0001	0.0001	0.0042	9.536e-05	9.016e-05	0.0029	0.0024	0	4.472e-05	0.0026	0	0	0.0042	2.788e-05	0.0003	0.0002	8.547e-05	8.534e-05	0.0001	6.725e-05	0.0002	4.96e-05	3.965e-05	.	.	2.409e-05	0	6.547e-05	0.0020	0	0	0.0068	0	0.0005	0.0002	0.088	0.33585	T	0.018	0.61642	D	0.012	0.18474	B	0.009	0.19346	B	0.955312	0.08260	N	0.976842	1	0.08975	N	1.465	0.36909	L	1.3	0.35590	T	-5.71	0.87457	D	0.332	0.39760	-0.9607	0.39050	T	0.064	0.26632	T	10	0.01652065	0.00349	T	0.006748	0.17840	T	0.163	0.42028	.	.	0.297031009988	0.29315	0.4948388366197035	0.49404	0.312340773906	0.33537	0.368663668633	0.20640	T	0.373304	0.73732	T	-0.317592	0.07096	T	-0.434297	0.29448	T	0.046915277838707	0.04949	T	0.522748	0.17058	T	0.11569133	0.27297	0.2409287	0.49478	0.11569133	0.27296	0.2409287	0.49477	-2.939	0.13302	T	.	.	0.175	0.38336	B	.;.;.	.;.;.	0.833389	0.12048	8.604	0.7945276910553063	0.12748	0.04476	0.10088	N	AEFDBI	0.072157	0.14391	N	-1.0141051000883	0.08310	0.3892169	-1.13274943323984	0.07081	0.3431496	0.965595431093013	0.28842	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.03	-4.47	0.03278	0.362000	0.20020	-1.524000	0.05246	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.1265:0.2286:0.261:0.3839	1.182	0.01734	887	0.27948	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	863.43	33	chr18	59225572	.	T	G	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.735;DP=391;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.31;SOR=0.815	GT:AD:DP:GQ:PL	0/1:43,38:81:99:875,0,1001	9	0	1	0
chr18	59900287	59900287	G	A	exonic	PMAIP1	.	nonsynonymous SNV	PMAIP1:NM_001382617:exon1:c.G110A:p.R37Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs925026884	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.05	307.49	25	chr18	59900287	.	G	A	307.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=199;ExcessHet=0;FS=0;InbreedingCoeff=-0.0576;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=1.29;SOR=1.085	GT:AD:DP:GQ:PL	0/1:10,10:20:99:319,0,267	9	0	1	0
chr18	63351009	63351009	C	T	exonic	KDSR	.	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G488A:p.R163H	Lymphoma/leukemia, B-cell, variant (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.139069495198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374415594	9.585e-06	9.578e-06	6.813e-06	1.238e-05	1.08e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	1.872e-05	0	1.08e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.029	0.54541	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.046294	1	0.81001	D	2.2	0.62015	M	-2.67	0.90332	D	-3.43	0.67359	D	0.81	0.80572	0.790	0.94283	D	0.841	0.94677	D	10	0.7782662	0.77638	D	0.139069	0.82155	D	0.684	0.88443	0.51	0.60693	0.871323320213	0.87007	0.8418157764441112	0.84141	1.10155356664	0.77751	0.823471665382	0.85561	D	0.797789	0.94811	D	0.264549	0.79947	D	0.14223	0.79689	D	0.976192653179169	0.71270	D	0.960404	0.86020	D	0.29960656	0.52870	0.23007621	0.48099	0.29960656	0.52869	0.23007621	0.48098	-11.488	0.82267	D	.	.	0.500	0.64577	A	.;.;.	.;.;.	5.526542	0.91831	32	0.999543220592641	0.99963	0.98996	0.89714	D	AEFBI	0.942472	0.94711	D	0.8860537270378	0.91059	10.69594	0.887143920921449	0.94988	13.21234	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	7.905000	0.86479	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.393	0.98966	855	0.34697	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	210.43	34	chr18	63351009	.	C	T	210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.84;DP=432;ExcessHet=0;FS=105.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=2.49;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,22:101:99:0|1:63351009_C_T:222,0,2506:63351009	9	0	1	0
chr18	63987019	63987019	T	C	exonic	SERPINB8	.	nonsynonymous SNV	SERPINB8:NM_001348370:exon5:c.T326C:p.I109T,SERPINB8:NM_001276490:exon6:c.T320C:p.I107T,SERPINB8:NM_001366198:exon7:c.T866C:p.I289T,SERPINB8:NM_002640:exon7:c.T866C:p.I289T,SERPINB8:NM_198833:exon7:c.T866C:p.I289T	Peeling skin syndrome 5, Autosomal recessive	423	1098	0	1	0	2	0.000909918	.	.	.	2274192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.202	0.0209079919901	.	.	4.118e-05	0	8.64e-05	0	0	2.997e-05	0	0.0001	3.23e-05	5	154602	rs771466710	9.577e-06	9.577e-06	1.089e-05	8.25e-06	0.0002	5.56e-06	4.35e-06	0.0001	7.816e-05	0	0.0002	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.169176	0.17426	N	0.652062	1	0.08975	N	-2.025	0.00183	N	-1.65	0.82625	D	0.18	0.05035	N	0.025	0.00825	-0.8440	0.52379	T	0.120	0.41886	T	10	0.03254801	0.01409	T	0.020908	0.43593	T	0.202	0.48754	0.467	0.53891	0.470566500458	0.46685	0.3240759160774431	0.32320	0.0155832966435	0.01485	0.322310000658	0.13770	T	0.085732	0.37567	T	-0.416684	0.01796	T	-0.581268	0.14432	T	0.0178277370677556	0.00510	T	0.531447	0.31087	T	0.028188232	0.02119	0.040138032	0.04269	0.028188232	0.02119	0.040138032	0.04269	-1.842	0.03363	T	0.0454300259803171	0.00583	0.052	0.00514	B	.;.;.	.;.;.	0.399607	0.07708	4.386	0.61267874388198762	0.06666	0.01826	0.05672	N	ALL	0.058467	0.10971	N	-1.46908010252327	0.02071	0.09108025	-1.28778309204476	0.04595	0.2171039	0.999572546114837	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.65	0.348	0.15264	-2.570000	0.00989	-2.358000	0.03855	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.885000	0.42453	0.0:0.5518:0.109:0.3392	8.084	0.29922	933	0.16026	Serpin domain|Serpin domain;Serpin domain|Serpin 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1928.43	33	chr18	63987019	.	T	C	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=487;ExcessHet=0;FS=0.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.292;SOR=0.763	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1940,0,1962	9	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,27:85:99:0|1:65824683_C_G:118,0,1145:65824683	1	0	8	1
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	.	.	.	.	.	.	.	.	0.1429	584.25	36	chr18	79373903	.	A	G	584.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.212;DP=369;ExcessHet=0.2633;FS=110.902;InbreedingCoeff=-0.2125;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.242;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,11:40:99:0|1:79373902_C_T:218,0,1078:79373902	5	0	2	3
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	669.49	35	chr18	79373905	.	C	G	669.49	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.918;DP=365;ExcessHet=2.1085;FS=142.794;InbreedingCoeff=-0.3888;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=4.38;ReadPosRankSum=1.2;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,11:39:99:0|1:79373902_C_T:221,0,1043:79373902	1	0	3	6
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	.	.	.	.	.	.	.	.	0.5	663.14	35	chr18	79373906	.	C	G	663.14	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.034;DP=374;ExcessHet=2.1085;FS=138.543;InbreedingCoeff=-0.3888;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=1.26;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,10:38:99:0|1:79373902_C_T:205,0,1046:79373902	0	0	4	6
chr19	621467	621467	G	A	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon10:c.C2231T:p.A744V	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0121379177113	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749760358	9.033e-06	1.37e-05	7.964e-06	1.017e-05	0.0006	4.85e-06	3.54e-06	0.0001	4.288e-05	0	0	0	0	0	0.0006	5.988e-06	4.007e-05	1.799e-05	1.998e-05	1.983e-05	2.606e-05	1.363e-05	0.0002	5.31e-06	2.47e-06	4.9e-06	1.83e-06	0	0	0	0	0	0	0	2.951e-05	0	0.0002	.	.	.	0.503	0.11078	T	0.0	0.02946	B	0.001	0.04355	B	0.960173	0.08229	N	0.980975	1	0.08975	N	-0.205	0.04094	N	.	.	.	.	.	.	0.154	0.15888	-1.0103	0.26823	T	0.054	0.22770	T	10	0.041947126	0.02897	T	0.012138	0.30444	T	.	.	0.248	0.18447	0.239305524855	0.23518	0.3060076991650319	0.30513	0.203805891023	0.22797	0.303723961115	0.10959	T	0.004051	0.03463	T	-0.381293	0.03058	T	-0.785477	0.02292	T	0.0459431371622113	0.04773	T	0.213579	0.02626	T	0.047182154	0.08021	0.0302614	0.01460	0.047182154	0.08021	0.0302614	0.01459	-3.828	0.21223	T	.	.	0.076	0.06159	B	.	.	-0.877564	0.00963	0.038	0.76422692817752824	0.11462	0.03664	0.08924	N	AEFDBI	0.067920	0.13374	N	-1.28055835657691	0.03909	0.1755183	-1.34790339116945	0.03831	0.1794927	0.54354252695101	0.21273	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.42	-3.38	0.04577	-1.902000	0.01687	-1.673000	0.04942	-1.069000	0.01598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3366:0.1667:0.4968	5.692	0.17107	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	0.003392	0.000000	0.001748	0.000000	0.000000	0.000000	0.011719	0.009901	0.05	731.43	12	chr19	621467	.	G	A	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.607;DP=259;ExcessHet=0;FS=0;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=59.84;MQRankSum=-0.786;QD=16.62;ReadPosRankSum=-0.645;SOR=0.637	GT:AD:DP:GQ:PL	0/1:18,26:44:99:743,0,520	9	0	1	0
chr19	1043184	1043184	C	G	exonic	ABCA7	.	stopgain	ABCA7:NM_019112:exon8:c.C723G:p.Y241X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.431e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs145274467	2.058e-06	2.052e-06	0	4.14e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.01e-07	1.662e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314474	0.84076	D	0.22943	0.84642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	3.260957	0.44598	22.0	0.98564277285526081	0.43025	0.36323	0.25507	N	ALL	0.219039	0.34397	N	-0.432309745693959	0.24343	1.313791	-0.787482242147436	0.14802	0.7753225	0.999999897607919	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.1	-3.27	0.04735	-2.692000	0.00901	-9.531000	0.00809	-1.837000	0.00584	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.3918:0.0:0.6082	9.020	0.35357	988	0.01987	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3338.43	41	chr19	1043184	.	C	G	3338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=539;ExcessHet=0;FS=0.505;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.092;SOR=0.754	GT:AD:DP:GQ:PL	0/1:89,130:219:99:3350,0,1940	9	0	1	0
chr19	3754018	3754018	C	T	splicing	APBA3	NM_004886:exon5:c.849+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.461e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs370070756	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.574e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290325	0.82182	D	0.179256	0.81953	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.352983	0.95067	34	0.99293071045697656	0.58326	0.99420	0.95802	D	AEFBI	.	.	.	0.921913712581023	0.92791	11.63105	0.694973464929064	0.81995	7.659161	0.999983778849116	0.51787	0.322412	0.05557	0	0.31918	0.05746	0	0.072005	0.02045	0	0.079188	0.02158	0	0.874145	0.54150	4.03	4.03	0.46115	7.721000	0.83731	7.438000	0.58849	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.0:1.0:0.0:0.0	15.506	0.75476	976	0.04745	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1605.43	42	chr19	3754018	.	C	T	1605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.222;DP=471;ExcessHet=0;FS=3.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.083;SOR=1	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1617,0,1316	9	0	1	0
chr19	5693380	5693380	C	A	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon17:c.G2033T:p.R678L,LONP1:NM_004793:exon17:c.G2621T:p.R874L,LONP1:NM_001276479:exon18:c.G2429T:p.R810L	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0984476041981	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759340786	6.16e-06	6.156e-06	8.172e-06	4.128e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	0	0	0	0	1.894e-05	0.0005	1.799e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.152	0.32249	T	0.048	0.22112	B	0.056	0.26147	B	0.000003	0.62929	N	0.062563	0.997237	0.47497	D	3.12	0.87914	M	1.42	0.33189	T	-5.84	0.89211	D	0.455	0.50688	-0.9927	0.31906	T	0.107	0.38906	T	10	0.82924783	0.82093	D	0.098448	0.76943	D	0.219	0.51417	0.781	0.90541	0.531577502507	0.52806	0.8847310432966006	0.88441	0.461339892586	0.45675	0.509242415428	0.40115	T	0.604794	0.87387	D	-0.0808605	0.39574	T	-0.353927	0.38755	T	0.534226627248298	0.33890	D	0.928457	0.74412	D	0.73439765	0.79973	0.5769376	0.75487	0.73439765	0.79974	0.5769376	0.75488	-9.887	0.77494	D	0.2786247320978517	0.37356	0.360	0.60046	A	.;.;.;.;.;.	.;.;.;.;.;.	4.095247	0.61022	24.3	0.98275998727123259	0.39805	0.97699	0.76499	D	AEFDGBHCI	0.677895	0.64244	D	-0.163033099989352	0.34681	1.982559	-0.150541311784277	0.33389	1.909318	0.999999999999055	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.75	3.68	0.41359	4.705000	0.61527	5.154000	0.47766	0.585000	0.30472	0.999000	0.42656	1.000000	0.68203	0.569000	0.30626	0.1869:0.8131:0.0:0.0	11.564	0.50050	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic 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	.	.	.	.	.	.	.	.	0.05	1237.43	41	chr19	5693380	.	C	A	1237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.25;DP=462;ExcessHet=0;FS=2.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.227;SOR=0.628	GT:AD:DP:GQ:PL	0/1:79,50:129:99:1249,0,1825	9	0	1	0
chr19	6375494	6375494	G	A	exonic	PSPN	.	nonsynonymous SNV	PSPN:NM_004158:exon2:c.C271T:p.R91C	.	418	1084	18	2	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.423871069852	0.0006	0.000399361	0.0024	0	0.0058	0	0	0.0047	0.0058	0.0010	0.0006856	106	154602	rs199881560	0.0010	0.0010	0.0010	0.0011	0.0141	0.0010	0.0009	0.0116	0.0107	0.0010	0.0013	0.0020	0	0.0003	0.0141	0.0009	0.0018	0.0017	0.0009	0.0009	0.0008	0.0011	0.0031	0.0008	0.0008	0.0024	0.0022	0.0005	0	0.0031	0.0026	0	9.414e-05	0.0137	0.0008	0.0024	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.765	0.56630	P	0.005456	0.32788	N	0.206931	0.999861	0.50061	D	2.815	0.81989	M	-1.88	0.84487	D	-6.72	0.92561	D	0.457	0.49420	0.347	0.88284	D	0.640	0.87419	D	10	0.051564932	0.05056	T	0.423871	0.93847	D	0.754	0.91583	.	.	0.869336624702	0.86806	0.6008403966575716	0.60015	1.28444644439	0.82614	0.542785406113	0.44839	T	0.931102	0.98836	D	0.161253	0.70316	D	0.445622	0.93469	D	0.0494534286816615	0.05403	T	0.968203	0.88468	D	0.5794814	0.71580	0.33474544	0.59296	0.5794814	0.71581	0.33474544	0.59295	-13.146	0.89955	D	.	.	0.306	0.53425	B	.	.	5.032840	0.83719	28.1	0.99917466821320478	0.98518	0.76001	0.37243	D	AEFDBCI	0.663711	0.63313	D	0.510018647440075	0.67679	5.114119	0.46060518330418	0.65400	4.819082	0.999590146156428	0.40745	0.679555	0.55442	0	0.550933	0.16991	0	0.645312	0.48771	0	0.602482	0.37289	1	.	.	4.21	4.21	0.48984	3.446000	0.52692	5.032000	0.46835	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.6769:0.3231	9.764	0.39713	748	0.52143	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, 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	0.010769	0.010989	0.012465	0.017647	0.000000	0.000000	0.003145	0.007576	0.05	740.43	35	chr19	6375494	.	G	A	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.414;DP=407;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.503;SOR=0.834	GT:AD:DP:GQ:PL	0/1:36,31:67:99:752,0,865	9	0	1	0
chr19	6433680	6433680	G	C	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon1:c.C14G:p.P5R	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0313249890407	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs754641726	8.144e-05	8.209e-05	6.979e-05	9.344e-05	9.784e-05	6.901e-05	6.419e-05	8.248e-05	7.688e-05	3.095e-05	2.502e-05	0	0	0	0	9.784e-05	0.0001	0	3.946e-05	3.941e-05	3.856e-05	4.039e-05	7.351e-05	1.717e-05	1.13e-05	2.847e-05	1.858e-05	0	0	6.559e-05	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.047	0.21998	B	0.027	0.21085	B	0.152526	0.17920	U	0.502519	1	0.08975	N	0.805	0.20218	L	-1.71	0.83157	D	-0.09	0.08340	N	0.401	0.44187	-0.7964	0.55356	T	0.277	0.64885	T	10	0.10124686	0.18488	T	0.031325	0.53437	D	0.078	0.22779	.	.	0.165133752707	0.16062	0.08792468114477948	0.08725	0.0440490187585	0.04745	0.371021687984	0.20979	T	0.006698	0.06126	T	-0.112965	0.34281	T	-0.277498	0.47059	T	0.0950702735553747	0.11806	T	0.390761	0.09705	T	0.06807105	0.14799	0.12817834	0.30841	0.06807105	0.14799	0.12817834	0.30841	-4.176	0.26403	T	.	.	0.078	0.06849	B	.	.	1.148179	0.15359	11.79	0.94042062167607599	0.24164	0.04530	0.10162	N	AEFI	0.052149	0.09281	N	-1.02975331633391	0.07991	0.3731156	-1.11129256652991	0.07484	0.3641899	1.17142957300295E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	3.09	-0.753	0.10510	1.140000	0.31128	1.170000	0.24618	0.613000	0.49114	0.006000	0.17386	0.001000	0.17328	0.002000	0.04165	0.1459:0.0:0.4007:0.4533	3.225	0.06331	818	0.41518	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1256.43	35	chr19	6433680	.	G	C	1256.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.927;DP=424;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.737;SOR=0.605	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1268,0,1052	9	0	1	0
chr19	6735933	6735933	C	T	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon3:c.G266A:p.R89Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	2393119	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00935523476456	8.3e-05	0.000199681	0.0002	0	0.0001	0.0008	0	0.0002	0	0	0.0001229	19	154602	rs375471822	9.936e-05	9.987e-05	9.133e-05	0.0001	0.0013	8.593e-05	8.062e-05	0.0010	0.0009	5.987e-05	4.498e-05	3.842e-05	0.0013	0	0.0009	6.483e-05	0.0002	1.166e-05	7.887e-05	7.875e-05	6.428e-05	9.413e-05	0.0004	4.498e-05	3.513e-05	6.85e-05	5.09e-05	2.409e-05	0	0	0	0.0004	0	0	0.0001	0	0	0.231	0.18246	T	0.467	0.12351	T	0.222	0.30359	B	0.016	0.17743	B	0.001651	0.38382	N	0.105080	1	0.81001	D	1.78	0.46185	L	1.91	0.23283	T	-1.22	0.30964	N	0.151	0.15469	-1.0505	0.14258	T	0.035	0.15117	T	10	0.01843226	0.00401	T	0.009355	0.24530	T	0.018	0.03083	.	.	0.222439326576	0.21863	0.3481148404021109	0.34725	0.265635106217	0.29118	0.372787535191	0.21231	T	0.009837	0.08928	T	-0.472065	0.00825	T	-0.545951	0.17716	T	0.0281888831496896	0.01716	T	0.738826	0.35731	T	0.05898652	0.11934	0.04925073	0.07486	0.05898652	0.11933	0.04925073	0.07485	-6.732	0.52051	T	.	.	0.075	0.05668	B	.	.	1.499537	0.19277	14.18	0.99414742445323134	0.63453	0.15964	0.19166	N	AEFDGBHCI	0.104361	0.20883	N	-0.7228713108931	0.15380	0.7745733	-0.71050897053774	0.16699	0.8846313	0.999982225318609	0.51787	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	4.23	-0.477	0.11493	0.453000	0.21523	-0.322000	0.09956	0.549000	0.26987	0.013000	0.18845	0.000000	0.08366	0.881000	0.42162	0.0:0.5414:0.0:0.4586	6.315	0.20391	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	0.001009	0.000000	0.000000	0.005917	0.000000	0.000000	0.000000	0.000000	0.05	421.43	34	chr19	6735933	.	C	T	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.901;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.643;SOR=0.631	GT:AD:DP:GQ:PL	0/1:29,18:47:99:433,0,764	9	0	1	0
chr19	7019175	7019175	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C601T:p.R201W	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	0.000399361	0.0005	0	0	0	0	0	0	0.0013	0.0001164	18	154602	rs373185857	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0001	0.0009	0.0009	0	0	0	0	0	0.0005	5.987e-05	0.0003	0.0012	0.0001	0.0001	7.717e-05	0.0001	0.0027	7.093e-05	5.749e-05	0.0016	0.0013	0	0	0	0	0.0002	0	0	4.413e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.291589	0.14759	N	0.500961	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9765	0.35794	T	0.094	0.35684	T	6	0.012144089	0.00262	T	.	.	.	.	.	.	.	.	.	0.40558127082025486	0.40474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344566	0.07542	T	0.12333005	0.28961	0.13203688	0.31693	0.12333005	0.28961	0.13203688	0.31692	-5.692	0.43623	T	.	.	0.193	0.41541	B	.;.	.;.	1.880415	0.23884	16.19	0.8822533936491902	0.17812	0.00198	0.01140	N	AEFBI	.	.	.	-0.942452097261537	0.09863	0.4686974	-1.17092006574531	0.06400	0.3079479	1.877769576949E-6	0.01202	0.070013	0.01499	0	0.082579	0.02020	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0473252	0.06615	2.08	-2.01	0.07003	-0.298000	0.08302	0.424000	0.18252	-1.302000	0.01243	0.019000	0.19563	0.000000	0.08366	0.001000	0.02609	0.2047:0.3773:0.4181:0.0	5.022	0.13707	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	.	.	.	.	.	.	.	.	0.05	343.43	27	chr19	7019175	.	G	A	343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.916;DP=207;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.95;MQRankSum=-0.075;QD=15.61;ReadPosRankSum=-0.703;SOR=0.446	GT:AD:DP:GQ:PL	0/1:9,13:22:99:355,0,203	9	0	1	0
chr19	7631533	7631533	C	T	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon4:c.C199T:p.R67C	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	423	1091	8	0	0	8	0.00365297	.	.	.	377914	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.169	.	.	0.0267572	0.0041	0.0017	0.0072	0.0977	0	0.0016	0.0139	0.0026	0.0020892	323	154602	rs117661715	0.0040	0.0039	0.0041	0.0039	0.0817	0.0039	0.0039	0.0793	0.0783	0.0003	0.0085	0.0028	0.0817	0.0334	0.0008	0.0004	0.0064	0.0026	0.0076	0.0076	0.0054	0.0098	0.1001	0.0072	0.0070	0.0930	0.0901	0.0007	0	0.0050	0.0020	0.1001	0.0383	0	0.0010	0.0052	0.0064	.	.	.	0.002	0.79402	D	0.999	0.77913	D	0.855	0.60933	P	.	.	.	.	0.994581	0.42337	D	.	.	.	.	.	.	.	.	.	0.441	0.47949	-0.8826	0.49553	T	0.018	0.07706	T	7	0.002824366	0.00045	T	.	.	.	0.169	0.43123	.	.	.	.	0.8000398010438059	0.79957	.	.	0.267800301313	0.05856	T	0.069941	0.33837	T	-0.397193	0.02415	T	-0.268564	0.47965	T	0.0446705245562831	0.04542	T	0.850115	0.54891	D	0.4398117	0.63391	0.40352994	0.64806	0.46711275	0.65113	0.3854686	0.63462	-10.484	0.76755	D	0.36386840389665337	0.46005	0.130	0.35225	B	.;.	.;.	3.137424	0.42422	21.5	0.99882673285282308	0.95813	0.49489	0.28445	N	AEFBI	0.647298	0.62252	D	0.0612813298377884	0.44663	2.736262	-0.0726924661619282	0.36525	2.126648	0.999999803655976	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.17	4.17	0.48303	0.639000	0.24378	1.369000	0.25941	0.599000	0.40250	0.009000	0.18154	0.101000	0.22673	0.031000	0.13245	0.0:1.0:0.0:0.0	13.531	0.61079	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003086	0.000000	0.000000	0.007692	0.000000	0.000000	0.008929	0.000000	0.05	697.43	33	chr19	7631533	.	C	T	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-1.574;SOR=0.673	GT:AD:DP:GQ:PL	0/1:35,30:65:99:709,0,736	9	0	1	0
chr19	8111069	8111069	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon33:c.G4199A:p.R1400Q,FBN3:NM_032447:exon33:c.G4199A:p.R1400Q	.	415	1089	17	1	0	19	0.00864816	.	.	.	1128262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0572352569287	0.0012	0.000998403	0.0016	0.0002	0.0020	0.0019	0.0006	0.0021	0.0034	0.0006	0.0016041	248	154602	rs140448414	0.0017	0.0017	0.0017	0.0017	0.0142	0.0017	0.0016	0.0117	0.0108	0.0003	0.0026	0.0005	0.0018	0.0002	0.0142	0.0018	0.0016	0.0007	0.0017	0.0017	0.0019	0.0016	0.0032	0.0016	0.0015	0.0025	0.0022	0.0004	0.0077	0.0032	0.0006	0.0017	0	0.0102	0.0025	0.0024	0.0004	0.319	0.13610	T	0.402	0.14912	T	0.044	0.21686	B	0.027	0.21085	B	0.002601	0.36243	U	0.206112	0.999418	0.21230	N	2.05	0.56469	M	-2.93	0.91800	D	-1.57	0.37955	N	0.09	0.06854	-0.4500	0.70400	T	0.493	0.80757	T	10	0.0081424415	0.00185	T	0.057235	0.66892	D	0.077	0.22490	.	.	0.664903063441	0.66208	0.2750296332005099	0.27415	0.319035525961	0.34116	0.213713020086	0.00979	T	0.124644	0.44982	T	-0.429756	0.01487	T	-0.394706	0.34001	T	0.0168729701527566	0.00440	T	0.292171	0.05356	T	0.06540151	0.13973	0.05813196	0.10688	0.06540151	0.13973	0.05813196	0.10688	-5.347	0.40406	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.502334	0.19308	14.20	0.95475789574083936	0.27030	0.04438	0.10037	N	AEFDBI	0.063337	0.12232	N	-0.821365042290503	0.12765	0.624336	-0.856969919442249	0.13121	0.6788787	0.532305430104596	0.21185	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	3.67	1.43	0.21585	-0.509000	0.06419	.	.	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.4446:0.0:0.5554	6.422	0.20953	923	0.18507	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.005051	0.016304	0.023392	0.000000	0.000000	0.003049	0.007576	0.05	2062.43	35	chr19	8111069	.	C	T	2062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.888;DP=489;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.282;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,82:169:99:2074,0,2169	9	0	1	0
chr19	8123798	8123798	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon23:c.G2942A:p.R981Q,FBN3:NM_032447:exon23:c.G2942A:p.R981Q	.	422	1082	17	1	0	19	0.00870362	.	.	.	1149199	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.213	0.00630185888527	0.0010	0.000998403	0.0015	0.0008	0.0020	0.0002	0.0002	0.0020	0.0047	0.0005	0.0015977	247	154602	rs147035742	0.0017	0.0017	0.0017	0.0017	0.0146	0.0016	0.0016	0.0121	0.0112	0.0005	0.0030	0.0005	7.557e-05	3.789e-05	0.0146	0.0019	0.0016	0.0008	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0015	0.0022	0.0021	0.0007	0.0077	0.0029	0.0006	0.0002	0	0.0102	0.0025	0.0019	0.0004	0.025	0.47320	D	0.034	0.52727	D	0.105	0.25993	B	0.005	0.11217	B	0.004892	0.33292	N	0.265877	0.967826	0.38619	D	1.21	0.30464	L	-2.21	0.86963	D	-1.98	0.45769	N	0.199	0.21969	-0.7912	0.55659	T	0.334	0.70142	T	10	0.015554756	0.00326	T	0.006302	0.16551	T	0.213	0.50496	.	.	0.485991781493	0.48229	0.6298403361476462	0.62918	0.232148426963	0.25761	0.223081871867	0.01496	T	0.047907	0.27862	T	-0.407141	0.02077	T	-0.361285	0.37903	T	0.00994885775574709	0.00132	T	0.860814	0.55431	D	0.043586027	0.06818	0.04302608	0.05258	0.043586027	0.06818	0.04302608	0.05258	-7.864	0.60140	D	.	.	0.067	0.02342	B	.;.;.	.;.;.	-0.265406	0.02772	0.375	0.95980123835058828	0.28354	0.15338	0.18862	N	AEFDBI	0.137104	0.25798	N	-1.23649935210711	0.04481	0.2023165	-1.35407493213619	0.03758	0.1759698	0.00144747819953945	0.08543	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	3.41	-2.4	0.06204	-0.300000	0.08280	.	.	-1.112000	0.01489	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6111:0.0:0.3889	8.030	0.29619	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012158	0.010101	0.016304	0.023529	0.000000	0.000000	0.003106	0.007692	0.05	434.43	34	chr19	8123798	.	C	T	434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=301;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.451;SOR=1.053	GT:AD:DP:GQ:PL	0/1:19,15:34:99:446,0,527	9	0	1	0
chr19	8813136	8813136	T	G	exonic	ZNF558	.	nonsynonymous SNV	ZNF558:NM_001304350:exon3:c.A121C:p.T41P,ZNF558:NM_144693:exon8:c.A334C:p.T112P	.	430	1078	13	1	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.00139776	0.0065	0.0004	0.0108	0	0	0.0110	0.0140	0.0021	0.0028137	435	154602	rs61745089	0.0026	0.0026	0.0026	0.0026	0.0103	0.0025	0.0025	0.0082	0.0074	0.0004	0.0026	0.0346	0	0.0001	0.0103	0.0020	0.0053	0.0014	0.0026	0.0026	0.0028	0.0024	0.0053	0.0024	0.0023	0.0044	0.0040	0.0004	0	0.0053	0.0349	0	9.43e-05	0.0170	0.0022	0.0076	0.0012	0.211	0.19569	T	0.261	0.22962	T	0.001	0.07471	B	0.001	0.04355	B	0.548881	0.11457	N	0.712043	1	0.08975	N	0.7	0.18542	N	3.29	0.06445	T	-1.97	0.45587	N	0.095	0.09349	-0.9355	0.43318	T	0.010	0.03537	T	10	0.0049788654	0.00107	T	.	.	.	0.009	0.00846	.	.	0.0551355673512	0.04727	0.4434731397212186	0.44265	0.259224279476	0.28482	0.265417158604	0.05552	T	0.029155	0.20955	T	-0.67211	0.00053	T	-0.737812	0.03984	T	0.0015984344054372	0.00016	T	9.73128E-5	0.00000	T	0.14202425	0.32702	0.08483872	0.19547	0.14202425	0.32701	0.08483872	0.19547	-0.735	0.00748	T	.	.	0.065	0.01810	B	.;.	.;.	0.735706	0.11051	7.704	0.39315862816394936	0.02705	0.04976	0.10745	N	AEFBI	0.080046	0.16178	N	-1.18259583298992	0.05263	0.2395078	-1.19635402717445	0.05970	0.2860118	1.5385123730191E-5	0.02871	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	3.96	1.8	0.24069	0.035000	0.13685	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.1117:0.212:0.6764	4.053	0.09285	923	0.18507	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013623	0.035354	0.017711	0.008772	0.000000	0.008621	0.006135	0.003788	0.05	1070.43	38	chr19	8813136	.	T	G	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.835;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.006;SOR=0.719	GT:AD:DP:GQ:PL	0/1:67,47:114:99:1082,0,1659	9	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,56:338:99:0|1:8888826_T_*:1610,0,10323:8888826	2	0	8	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	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	.	.	.	.	.	.	.	.	0.1429	84.17	199	chr19	8908599	.	T	C	84.17	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.29;DP=1746;ExcessHet=0.2348;FS=31.552;InbreedingCoeff=-0.1956;MLEAC=2;MLEAF=0.143;MQ=59.35;MQRankSum=-7.493;QD=0.3;ReadPosRankSum=1.16;SOR=6.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,12:149:91:0|1:8908590_A_G:91,0,5716:8908590	5	0	2	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	93.24	200	chr19	8908602	.	C	T	93.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.62;DP=1748;ExcessHet=0.2348;FS=31.645;InbreedingCoeff=-0.2022;MLEAC=2;MLEAF=0.143;MQ=59.35;MQRankSum=-7.464;QD=0.33;ReadPosRankSum=1.36;SOR=6.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,12:147:98:0|1:8908590_A_G:98,0,5633:8908590	5	0	2	3
chr19	9380794	9380795	AA	-	exonic	ZNF177;ZNF559-ZNF177	.	frameshift deletion	ZNF177:NM_001172651:exon8:c.463_464del:p.K155Sfs*9,ZNF559-ZNF177:NM_001384659:exon13:c.463_464del:p.K155Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs748916868	2.529e-05	2.394e-05	1.284e-05	3.808e-05	0.0004	1.837e-05	1.625e-05	0.0003	0.0002	0	0	0	2.799e-05	0	0	1.854e-06	5.181e-05	0.0004	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001225	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	1756.39	48	chr19	9380793	.	CAA	C	1756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.425;DP=518;ExcessHet=0;FS=4.365;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.16;SOR=0.412	GT:AD:DP:GQ:PL	0/1:82,48:130:99:1768,0,3259	9	0	1	0
chr19	11221884	11221884	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon28:c.C3517T:p.R1173W,DOCK6:NM_001367830:exon29:c.C3622T:p.R1208W	Adams-Oliver syndrome 2, Autosomal recessive	1	1495	25	1	0	27	0.00894929	.	.	.	438086	not_provided|DOCK6-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.024716856273	0.0027	0.00159744	0.0025	0.0023	0.0012	0	0.0003	0.0029	0.0033	0.0042	0.0023544	364	154602	rs145081732	0.0026	0.0026	0.0025	0.0027	0.0083	0.0025	0.0025	0.0064	0.0058	0.0015	0.0014	0.0032	2.519e-05	0.0002	0.0083	0.0028	0.0023	0.0035	0.0018	0.0018	0.0021	0.0016	0.0025	0.0017	0.0016	0.0021	0.0020	0.0016	0	0.0013	0.0023	0	0	0.0102	0.0024	0.0014	0.0025	0.002	0.72154	D	0.005	0.72224	D	0.981	0.59675	D	0.586	0.50343	P	0.047094	0.23377	N	0.416055	0.657158	0.30481	N	1.1	0.28011	L	1.85	0.24472	T	-3.22	0.64939	D	0.425	0.46462	-1.0565	0.12646	T	0.044	0.18742	T	10	0.010068476	0.00225	T	0.024717	0.47706	T	0.128	0.35103	.	.	0.414150184683	0.41028	0.5947782358054443	0.59407	0.462280186915	0.45762	0.568136334419	0.48413	T	0.040953	0.25698	T	-0.406529	0.02097	T	-0.357008	0.38398	T	0.0362760959576312	0.03028	T	0.926807	0.73035	D	0.08433924	0.19516	0.108308405	0.26088	0.08433924	0.19516	0.108308405	0.26087	-9.738	0.72328	D	.	.	0.198	0.42126	B	.	.	4.949368	0.81744	27.6	0.99899746864282124	0.97199	0.94870	0.62616	D	AEFBI	0.548525	0.56177	D	-0.0397028517292993	0.40063	2.372941	-0.0379795339695781	0.38015	2.233739	5.09064424599943E-5	0.03989	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.44	3.37	0.37692	1.997000	0.40406	.	.	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6585:0.3415	11.223	0.48098	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.010870	0.014620	0.000000	0.008621	0.003049	0.015152	0.15	3219.45	33	chr19	11221884	.	G	A	3219.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.06;DP=541;ExcessHet=0.7463;FS=2.77;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.13;SOR=0.873	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1140,0,1220	7	0	3	0
chr19	11507462	11507462	T	C	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon5:c.A404G:p.N135S,ECSIT:NM_016581:exon7:c.A1046G:p.N349S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0134218067431	7.7e-05	.	5.776e-05	0	8.657e-05	0	0	7.51e-05	0	6.059e-05	6.47e-05	10	154602	rs141979045	2.6e-05	2.668e-05	2.042e-05	3.163e-05	0.0003	1.933e-05	1.692e-05	8.861e-05	6.427e-05	2.987e-05	0.0002	0.0005	2.519e-05	0	0.0003	3.598e-06	1.656e-05	0.0001	3.289e-05	3.284e-05	3.858e-05	2.693e-05	0.0001	1.262e-05	7.99e-06	2.267e-05	9.09e-06	0	0	0.0001	0.0003	0	0	0	1.471e-05	0.0005	0	0.27	0.24564	T	0.043	0.51421	D	0.005	0.12996	B	0.006	0.12133	B	0.175607	0.17247	N	0.595355	1	0.81001	D	0.69	0.16971	N	0.97	0.42502	T	-1.47	0.38734	N	0.089	0.07673	-1.0987	0.04252	T	0.065	0.27017	T	10	0.058678895	0.06937	T	0.013422	0.32810	T	0.080	0.23350	.	.	0.0954503805726	0.09146	0.24754526490829468	0.24668	0.212226253368	0.23721	0.277329444885	0.07123	T	0.115772	0.43461	T	-0.486031	0.00683	T	-0.666626	0.07826	T	0.0223439029607609	0.00947	T	0.339666	0.07323	T	0.111172535	0.26273	0.06776163	0.14062	0.111172535	0.26272	0.06776163	0.14061	-2.268	0.04610	T	.	.	0.073	0.07985	B	.;.	.;.	2.577212	0.33407	19.33	0.81426514600414679	0.13680	0.91279	0.53214	D	AEFDBI	0.397490	0.47354	N	-0.653047008345584	0.17372	0.8933216	-0.588042418265683	0.19804	1.064211	0.999971827993049	0.50053	0.722319	0.85440	0	0.698795	0.70079	0	0.0	0.00061	3	0.645665	0.59343	0	.	.	5.1	3.0	0.33773	4.462000	0.59857	.	.	0.590000	0.31872	0.938000	0.32564	0.823000	0.27144	0.219000	0.22435	0.0:0.162:0.0:0.838	8.644	0.33156	759	0.50631	ECSIT, C-terminal domain|ECSIT, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1431.43	40	chr19	11507462	.	T	C	1431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=557;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.85;SOR=0.6	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1443,0,1116	9	0	1	0
chr19	12948357	12948357	G	T	exonic	RAD23A	.	nonsynonymous SNV	RAD23A:NM_001270362:exon3:c.G415T:p.G139C,RAD23A:NM_001270363:exon3:c.G415T:p.G139C,RAD23A:NM_005053:exon3:c.G415T:p.G139C	.	433	1088	1	0	0	1	0.000459348	0.9146	0.702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0194174586983	.	0.00179712	0.0004	0	0	0	0	3.115e-05	0	0.0043	0.0004657	72	154602	rs200506311	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0004	1.923e-05	0.0002	0.0032	0.0001	0.0001	6.426e-05	0.0001	0.0033	6.508e-05	5.32e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.148	0.24857	T	0.12	0.37173	T	0.987	0.61912	D	0.74	0.55692	P	0.000614	0.42945	D	0.206503	0.997307	0.81001	D	0.895	0.22405	L	2.21	0.18414	T	-1.86	0.43524	N	0.641	0.73015	-1.0895	0.05616	T	0.055	0.23224	T	10	0.011325091	0.00248	T	0.019417	0.41777	T	0.124	0.34239	0.324	0.30549	0.78743447906	0.78546	0.5885609993342256	0.58786	0.96515572476	0.73150	0.639250457287	0.58457	T	0.296653	0.66928	T	-0.310437	0.07709	T	-0.220488	0.52692	T	0.127707374012873	0.15168	T	0.728627	0.34859	T	0.20205094	0.42236	0.12369042	0.29823	0.20205094	0.42236	0.12369042	0.29822	-6.517	0.50417	T	.	.	0.164	0.36889	B	.;.;.	.;.;.	4.361528	0.67072	25.0	0.99564046101039161	0.71953	0.91426	0.53509	D	AEFBHCI	0.783811	0.71469	D	0.366119121013865	0.59596	4.140268	0.399187591842465	0.61513	4.352648	0.99999999947816	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	3.921000	0.56166	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	13.108	0.58673	528	0.73785	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	979.43	34	chr19	12948357	.	G	T	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.946;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.556;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,38:78:99:1|0:12948333_A_G:991,0,1402:12948333	9	0	1	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;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	.	.	.	.	.	.	.	.	0.1875	263.11	49	chr19	13261453	.	C	T	263.11	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.237;DP=472;ExcessHet=0.7463;FS=167.371;InbreedingCoeff=-0.2237;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=0.963;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,7:43:30:0|1:13261450_C_T:30,0,1152:13261450	5	0	3	2
chr19	16154571	16154571	G	T	exonic	HSH2D	.	nonsynonymous SNV	HSH2D:NM_001369809:exon5:c.G502T:p.A168S	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs188868946	0.0003	0.0003	0.0003	0.0004	0.0020	0.0003	0.0003	0.0010	0.0007	0	0.0003	0	0	0	0.0020	0.0004	0.0004	0.0004	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0	0	0.0003	0	0	0	0	0.0004	0.0010	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	.	.	.	.	.	.	.	.	0.05	532.43	27	chr19	16154571	.	G	T	532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.318;DP=336;ExcessHet=0;FS=1.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.166;SOR=0.513	GT:AD:DP:GQ:PL	0/1:27,21:48:99:544,0,756	9	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L,MYO9B:NM_004145:exon39:c.C6053T:p.S2018L	.	367	1108	46	1	0	48	0.0212014	.	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	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	0.023666	0.005102	0.019022	0.032164	0.050000	0.034483	0.024390	0.030303	0.1	1501.14	35	chr19	17211769	.	C	T	1501.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.79;DP=403;ExcessHet=0.2348;FS=2.24;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.738;SOR=0.916	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1018,0,581	8	0	2	0
chr19	17286567	17286567	G	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1646A:p.G549D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00195957454238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866890035	0	2.736e-06	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	.	.	.	.	.	.	.	.	0.05	1146.43	82	chr19	17286567	.	G	A	1146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.983;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.49;SOR=0.662	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1158,0,1832	9	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:0,28:34:73:2196,243,73	2	1	7	0
chr19	17365894	17365894	G	A	exonic	PLVAP	.	nonsynonymous SNV	PLVAP:NM_031310:exon3:c.C571T:p.R191C	.	.	.	.	.	.	.	.	.	.	.	2309854	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.00798599860043	.	.	8.248e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs776368180	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	8.861e-05	6.427e-05	0	0.0002	0	0	0	0	2.698e-06	0	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.01	0.56456	D	0.014	0.62352	D	0.999	0.77913	D	0.877	0.62241	P	0.040289	0.24075	N	0.430329	0.999999	0.08975	N	1.905	0.50856	L	.	.	.	-3.47	0.67824	D	0.454	0.49146	-1.0622	0.11215	T	0.109	0.39415	T	9	0.7096852	0.72963	D	0.007986	0.21188	T	0.114	0.32008	0.767	0.89452	0.126345400529	0.12197	0.2555060795949818	0.25464	1.03364375487	0.75500	0.310299247503	0.11952	T	0.304708	0.67700	T	-0.274548	0.11254	T	-0.362846	0.37723	T	0.426881968975067	0.29945	T	0.755224	0.37818	T	0.16044834	0.35987	0.08807175	0.20513	0.16044834	0.35986	0.08807175	0.20512	-10.703	0.78004	D	0.828651602834334	0.89999	0.202	0.42692	B	.	.	2.820528	0.37159	20.4	0.9980851298830371	0.89264	0.05221	0.11050	N	AEFDBI	0.248628	0.36900	N	-0.293380910425987	0.29402	1.630228	-0.464722190432195	0.23133	1.259949	0.00642255594916012	0.11214	0.615465	0.37627	0	0.588066	0.40923	0	0.573078	0.19857	0	0.655142	0.61905	0	.	.	4.74	2.37	0.28337	0.563000	0.23250	1.214000	0.24928	-0.244000	0.07312	0.004000	0.16614	0.001000	0.17328	0.000000	0.00833	0.0:0.0:0.6148:0.3852	9.438	0.37814	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2467.43	34	chr19	17365894	.	G	A	2467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.799;SOR=0.679	GT:AD:DP:GQ:PL	0/1:80,94:174:99:2479,0,1850	9	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8514.43	92	chr19	20624371	.	G	*	8514.43	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.15;DP=689;ExcessHet=0.3476;FS=0.648;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.36;MQRankSum=-3.697;QD=16.53;ReadPosRankSum=1.87;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1098,100,0:20624327	4	3	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8119.48	92	chr19	20624379	.	C	*	8119.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.28;DP=686;ExcessHet=0.3476;FS=1.394;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.2;MQRankSum=-3.191;QD=15.67;ReadPosRankSum=0.506;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1098,100,0:20624327	4	3	0	3
chr19	32976521	32976521	G	A	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.G202A:p.V68M,FAAP24:NM_152266:exon5:c.G487A:p.V163M	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0298446743324	0.0004	0.000199681	0.0006	9.61e-05	0.0002	0	0	0.0006	0.0011	0.0020	0.0005498	85	154602	rs141801484	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0017	0.0016	2.987e-05	6.708e-05	0.0006	0	0	0.0010	0.0003	0.0005	0.0019	0.0004	0.0004	0.0004	0.0004	0.0033	0.0004	0.0003	0.0021	0.0017	7.216e-05	0	0.0005	0.0009	0	0	0.0102	0.0005	0.0005	0.0033	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.14	0.59869	M	2.47	0.14783	T	.	.	.	0.55	0.57604	0.099	0.84152	D	0.525	0.82297	D	9	0.039657116	0.02473	T	0.029845	0.52278	D	.	.	.	.	0.489174143269	0.48549	0.4716489516538365	0.47083	0.983466857233	0.73822	.	.	.	0.119873	0.44172	T	-0.179385	0.23827	T	-0.0605291	0.66295	T	0.174500122666359	0.18881	T	0.828817	0.50110	T	0.52517223	0.68555	0.3434324	0.60054	0.52517223	0.68556	0.3434324	0.60054	-12.337	0.86454	D	.	.	0.257	0.49206	B	.;.;.;.	.;.;.;.	5.042305	0.83928	28.2	0.99909670555530605	0.97949	0.74694	0.36546	D	ALL	0.791732	0.72024	D	0.810132349245945	0.86737	8.982076	0.767648368191244	0.87469	9.232843	1.0	0.98316	0.696267	0.57585	0	0.637152	0.57089	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.35	5.35	0.76297	5.870000	0.69370	8.639000	0.77885	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.076	0.93144	358	0.85037	.;.;.;.	.	.	.	.	.	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	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1017.43	35	chr19	32976521	.	G	A	1017.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=558;ExcessHet=0;FS=4.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=2.55;SOR=0.734	GT:AD:DP:GQ:PL	0/1:48,40:88:99:1029,0,1066	9	0	1	0
chr19	39658623	39658623	G	A	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon3:c.G256A:p.G86S	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.000903845796717	.	0.000998403	0.0012	0.0005	0.0008	0	0.0002	0.0016	0.0030	0.0009	0.0009444	146	154602	rs187604453	0.0012	0.0012	0.0012	0.0012	0.0073	0.0012	0.0012	0.0055	0.0049	0.0002	0.0007	0.0032	5.084e-05	2.113e-05	0.0073	0.0013	0.0018	0.0009	0.0009	0.0009	0.0010	0.0008	0.0013	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0005	0.0026	0	9.422e-05	0.0136	0.0013	0.0024	0.0010	0.039	0.42487	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.71	0.26737	T	-5.27	0.84175	D	0.251	0.28381	-0.9872	0.33298	T	0.168	0.50681	T	9	0.009722263	0.00219	T	9.04E-4	0.00844	T	0.047	0.12962	.	.	0.183819452728	0.17975	0.5909253620122654	0.59022	0.167835925792	0.18923	0.361620247364	0.19622	T	.	.	.	-0.476054	0.00780	T	-0.481222	0.24317	T	0.0975939031019295	0.12090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.45136	B	.	.	1.446714	0.18669	13.86	0.99286401174468941	0.58113	0.00717	0.03025	N	AEFDGBI	0.035108	0.04464	N	-0.150566375532353	0.35211	2.019585	-0.480343203511703	0.22695	1.234002	1.04301909415642E-4	0.05123	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.21	1.21	0.20240	0.536000	0.22838	.	.	0.366000	0.20181	0.003000	0.16062	0.001000	0.17328	0.008000	0.08271	0.0:0.0:1.0:0.0	5.719	0.17244	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	0.005699	0.000000	0.009511	0.010490	0.000000	0.017241	0.003049	0.000000	0.05	2115.43	33	chr19	39658623	.	G	A	2115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.184;DP=477;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.347;SOR=0.59	GT:AD:DP:GQ:PL	0/1:81,83:164:99:2127,0,2157	9	0	1	0
chr19	41625900	41625900	G	A	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.C125T:p.P42L,CEACAM4:NM_001362495:exon2:c.C125T:p.P42L,CEACAM4:NM_001817:exon2:c.C125T:p.P42L	.	215	1291	16	0	0	16	0.00615858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0039856705986	0.0012	0.00119808	0.0018	0.0002	0.0003	0	0	0.0015	0.0033	0.0069	0.0016559	256	154602	rs148045742	0.0015	0.0015	0.0013	0.0017	0.0082	0.0014	0.0014	0.0066	0.0064	0.0001	0.0004	0.0003	5.038e-05	0.0002	0.0082	0.0012	0.0015	0.0071	0.0010	0.0010	0.0011	0.0010	0.0056	0.0009	0.0008	0.0040	0.0034	0.0002	0	0.0005	0	0	0	0	0.0016	0.0014	0.0056	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.71	0.79292	M	-0.24	0.66834	T	-8.87	0.97888	D	0.206	0.22870	-0.4897	0.69019	T	0.544	0.83208	D	9	0.00583449	0.00130	T	0.003986	0.09431	T	0.113	0.31778	.	.	0.651368938621	0.64847	0.15995245192304647	0.15916	0.202668687371	0.22686	0.285314321518	0.08243	T	0.231281	0.59757	T	-0.393684	0.02546	T	-0.335942	0.40805	T	0.119876057199896	0.14417	T	.	.	.	0.12219163	0.28720	0.12415128	0.29929	0.12219163	0.28719	0.12415128	0.29928	-8.312	0.63176	D	.	.	0.468	0.67221	A	.;.	.;.	1.468730	0.18922	14.00	0.9919974733455057	0.55231	0.01485	0.04937	N	AEFDBI	0.030968	0.03219	N	-0.0433440237286437	0.39899	2.360587	-0.38461111959841	0.25455	1.399978	0.99988676870225	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	1.76	0.23776	0.651000	0.24559	0.029000	0.13704	0.478000	0.22058	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.954	0.23738	840	0.37365	Immunoglobulin-like domain;Immunoglobulin-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	0.004541	0.000000	0.000000	0.011834	0.000000	0.008621	0.009146	0.003788	0.05	986.43	43	chr19	41625900	.	G	A	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=475;ExcessHet=0;FS=2.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-2.604;SOR=1.061	GT:AD:DP:GQ:PL	0/1:52,40:92:99:998,0,1342	9	0	1	0
chr19	42376413	42376413	C	T	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.C7975T:p.R2659C,MEGF8:NM_001271938:exon42:c.C8176T:p.R2726C	Carpenter syndrome 2, Autosomal recessive	412	1103	7	0	0	7	0.00316313	.	.	.	694463	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.117	0.00965331931724	0.0021	0.000798722	0.0021	0.0005	0.0019	0	0.0011	0.0032	0.0024	0.0005	0.0018952	293	154602	rs141224456	0.0022	0.0022	0.0022	0.0021	0.0029	0.0021	0.0021	0.0022	0.0022	0.0004	0.0022	0.0095	5.039e-05	0.0010	0.0029	0.0023	0.0020	0.0006	0.0018	0.0018	0.0019	0.0017	0.0026	0.0016	0.0016	0.0023	0.0022	0.0003	0	0.0024	0.0098	0	0.0007	0	0.0026	0.0024	0.0004	0.023	0.49117	D	0.085	0.92824	T	0.0	0.17989	B	0.001	0.08700	B	0.812889	0.09237	N	0.905736	0.999998	0.58761	D	0.955	0.23872	L	1.96	0.22270	T	-2.58	0.61722	D	0.16	0.17416	-1.0988	0.04239	T	0.044	0.18865	T	10	0.00673303	0.00153	T	0.009653	0.25222	T	0.117	0.32689	.	.	0.179529687257	0.17594	0.5728963374639368	0.57217	0.732359198622	0.62783	0.758656084538	0.75730	T	0.184389	0.53703	T	-0.429655	0.01489	T	-0.393937	0.34092	T	0.0159459515029174	0.00378	T	0.868613	0.57861	D	0.16157554	0.36177	0.09934851	0.23717	0.16157554	0.36176	0.09934851	0.23716	-4.316	0.28400	T	.	.	0.111	0.36134	B	.;.;.	.;.;.	3.070899	0.41274	21.3	0.99869368422323146	0.94726	0.49394	0.28423	N	AEFBI	0.259593	0.37790	N	-0.48042692670959	0.22723	1.215323	-0.397762149140082	0.25063	1.376133	0.306898076868932	0.19247	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.683762	0.67416	0	.	.	3.9	2.84	0.32241	0.677000	0.24942	3.943000	0.40617	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.950000	0.49671	0.0:0.9052:0.0:0.0948	11.142	0.47631	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1242.43	41	chr19	42376413	.	C	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=401;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-1.615;SOR=0.438	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1254,0,939	9	0	1	0
chr19	42589522	42589522	T	C	exonic	CEACAM8	.	nonsynonymous SNV	CEACAM8:NM_001816:exon3:c.A638G:p.Y213C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.00702874050868	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs148250749	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999473	0.21134	N	4.865	0.99737	H	-1.35	0.80035	T	-8.11	0.96693	D	0.675	0.68255	-0.1061	0.79959	T	0.745	0.91306	D	9	0.948245	0.94154	D	0.007029	0.18621	T	0.518	0.79461	.	.	0.87510105639	0.87388	0.7743490549062987	0.77384	0.149189735459	0.16824	0.404167443514	0.25648	T	0.46702	0.80152	T	0.239255	0.77591	D	0.105897	0.77300	D	0.993394911289215	0.84176	D	0.886711	0.61387	D	0.5721011	0.71176	0.45882046	0.68558	0.5721011	0.71177	0.45882046	0.68559	-5.918	0.45588	T	.	.	0.623	0.69816	P	.	.	2.518469	0.32539	19.07	0.98659887581910966	0.44317	0.03328	0.08400	N	AEFBI	0.039221	0.05665	N	0.00754318262126388	0.42198	2.538027	-0.339046687462679	0.26850	1.485792	1.75108207965476E-5	0.02871	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	2.7	1.64	0.22949	1.386000	0.34025	-0.346000	0.09780	0.609000	0.47794	0.555000	0.27385	0.000000	0.08366	0.016000	0.10718	0.0:0.0:0.2752:0.7247	5.806	0.17702	312	0.87382	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3128.43	35	chr19	42589522	.	T	C	3128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.964;DP=606;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-2.274;SOR=0.782	GT:AD:DP:GQ:PL	0/1:147,131:278:99:3140,0,3521	9	0	1	0
chr19	42868881	42868881	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G584A:p.R195Q,PSG1:NM_001184825:exon4:c.G863A:p.R288Q,PSG1:NM_001184826:exon4:c.G863A:p.R288Q,PSG1:NM_001297773:exon4:c.G863A:p.R288Q,PSG1:NM_006905:exon4:c.G863A:p.R288Q	.	15	1459	46	2	0	50	0.0168464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000604984014835	0.0045	0.00259585	0.0053	0.0008	0.0047	0.0004	0.0017	0.0073	0.0046	0.0046	0.0019978	52	26028	rs148212160	0.0062	0.0062	0.0060	0.0063	0.0269	0.0061	0.0060	0.0230	0.0215	0.0015	0.0056	0.0290	7.566e-05	0.0017	0.0269	0.0062	0.0080	0.0045	0.0051	0.0051	0.0056	0.0045	0.0062	0.0048	0.0046	0.0057	0.0055	0.0009	0.0670	0.0058	0.0283	0.0002	0.0015	0.0204	0.0062	0.0090	0.0044	0.389	0.65419	T	0.39	0.33109	T	0.024	0.27209	B	0.023	0.23607	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.99	0.09262	T	0.04	0.08187	N	0.105	0.13198	-0.9417	0.42346	T	0.007	0.02321	T	9	0.0033926368	0.00059	T	6.05E-4	0.00274	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.086408958465541	0.08574	0.00866364585856	0.00788	.	.	.	5.36E-4	0.03393	T	-0.683374	0.00046	T	-0.75303	0.03369	T	3.38542813551612e-05	0.00000	T	0.70163	0.32905	T	0.029852921	0.02548	0.035667937	0.02861	0.029852921	0.02548	0.035667937	0.02861	-2.088	0.03533	T	.	.	0.077	0.13969	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.490925	0.01897	0.157	0.7445620437142858	0.10702	0.00188	0.01093	N	AEFI	0.024380	0.01501	N	-1.65265184355464	0.01024	0.04439887	-1.70450507736129	0.01118	0.05023568	1.53626025775916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	-1.44	0.08391	0.571000	0.23372	0.432000	0.18335	-2.143000	0.00376	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.4426:0.2838:0.0:0.2736	2.353	0.04027	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026570	0.040984	0.031680	0.039823	0.000000	0.035714	0.014815	0.000000	0.05	4108.43	41	chr19	42868881	.	C	T	4108.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.412;DP=656;ExcessHet=0;FS=3.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.11;MQRankSum=2.66;QD=13.6;ReadPosRankSum=0.475;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,158:302:99:0|1:42868881_C_T:4120,0,5441:42868881	9	0	1	0
chr19	42929524	42929524	G	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.C261G:p.N87K,PSG7:NM_002783:exon3:c.C627G:p.N209K	.	10	1462	47	3	0	53	0.0178032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00439297	0.0059	0.0010	0.0048	0.0024	0.0017	0.0078	0.0066	0.0060	0.0055885	864	154602	rs146569565	0.0065	0.0065	0.0063	0.0066	0.0307	0.0064	0.0063	0.0270	0.0256	0.0016	0.0057	0.0291	0.0010	0.0017	0.0307	0.0064	0.0089	0.0057	0.0053	0.0054	0.0058	0.0049	0.0065	0.0050	0.0049	0.0060	0.0058	0.0009	0.0680	0.0058	0.0289	0.0023	0.0016	0.0204	0.0065	0.0085	0.0063	.	.	.	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07535	.	.	.	.	.	.	.	0.004633993	0.00097	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.08514320760388049	0.08448	.	.	0.434188365936	0.29781	T	0.003173	0.02576	T	-0.518392	0.00450	T	-0.507023	0.21621	T	.	.	.	0.0775922	0.01553	T	0.04992332	0.08939	0.08294131	0.18968	0.04992332	0.08938	0.08294131	0.18968	-0.974	0.00971	T	.	.	0.076	0.22573	B	.;.;.	.;.;.	-0.905720	0.00916	0.034	0.24092682129794563	0.01049	0.00005	0.00104	N	AEFBI	0.014013	0.00207	N	.	.	.	.	.	.	0.00201933433724678	0.09087	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	0.167	0.14292	0.309000	0.19094	-3.405000	0.02812	-1.286000	0.01263	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6421:0.3579:0.0	5.471	0.15967	754	0.51307	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;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	0.027404	0.035714	0.031335	0.044218	0.000000	0.043103	0.015432	0.000000	0.05	4084.43	218	chr19	42929524	.	G	C	4084.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.577;DP=1486;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.02;MQRankSum=-6.983;QD=11.94;ReadPosRankSum=-0.371;SOR=0.793	GT:AD:DP:GQ:PL	0/1:173,169:342:99:4096,0,4277	9	0	1	0
chr19	44132312	44132312	A	T	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.A1698T:p.R566S,ZNF225:NM_001321685:exon6:c.A1698T:p.R566S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.00579073	0.0041	0.0001	0.0007	0.0001	0.0003	0.0012	0.0022	0.0240	0.0035575	550	154602	rs183264537	0.0022	0.0022	0.0015	0.0029	0.0230	0.0022	0.0021	0.0221	0.0218	0.0001	0.0004	0.0017	5.04e-05	0.0005	0.0069	0.0009	0.0026	0.0230	0.0015	0.0015	0.0011	0.0019	0.0251	0.0013	0.0012	0.0215	0.0201	0.0001	0	0.0003	0.0023	0	0.0005	0.0102	0.0011	0.0014	0.0251	0.001	0.78490	D	0.0	0.92824	D	0.949	0.53761	P	0.719	0.54822	P	.	.	.	.	1	0.81001	D	1.515	0.38264	L	2.16	0.19166	T	-1.96	0.45404	N	0.127	0.12913	-1.0569	0.12543	T	0.079	0.31466	T	9	0.004302144	0.00087	T	.	.	.	0.054	0.15330	.	.	0.313210971179	0.30940	0.029882056873656238	0.02937	0.434351109688	0.43575	0.381959468126	0.22535	T	0.014165	0.12111	T	-0.568964	0.00225	T	-0.572468	0.15224	T	0.0614131835042637	0.07389	T	0.608739	0.23025	T	0.14984234	0.34141	0.20630753	0.44839	0.14984234	0.34141	0.20630753	0.44838	-7.151	0.55128	T	.	.	0.932	0.86453	P	.;.	.;.	2.171386	0.27671	17.54	0.99258111684314854	0.57121	0.48042	0.28118	N	AEFBCI	0.299817	0.40877	N	-0.352147202336826	0.27193	1.490012	-0.603015465912891	0.19415	1.041559	1.1580317453342E-4	0.05269	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.76	1.67	0.23149	-1.716000	0.01978	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.7499:0.0:0.2501:0.0	6.024	0.18872	625	0.65529	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	0.007049	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.1	3307.14	38	chr19	44132312	.	A	T	3307.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.845;DP=625;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.38;SOR=0.712	GT:AD:DP:GQ:PL	0/1:88,72:160:99:1669,0,2088	8	0	2	0
chr19	44758776	44758776	C	T	exonic	BCL3	.	nonsynonymous SNV	BCL3:NM_005178:exon8:c.C1112T:p.P371L	Leukemia/lymphoma, B-cell, 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0194240501935	.	0.000199681	1.331e-05	0	0	0	0	0	0	8.576e-05	1.29e-05	2	154602	rs542865146	3.432e-06	4.788e-06	0	6.903e-06	3.519e-05	1.01e-06	7.3e-07	9.35e-06	4.59e-06	0	0	0	0	0	0	0	3.324e-05	3.519e-05	6.576e-06	6.563e-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	0.012	0.63918	D	0.099	0.25639	B	0.027	0.21085	B	0.064017	0.21983	N	0.322384	0.999974	0.18612	N	0.46	0.12951	N	0.98	0.42122	T	-1.48	0.36189	N	0.222	0.24883	-1.0279	0.21136	T	0.067	0.27674	T	10	0.048370898	0.04278	T	0.019424	0.41777	T	0.047	0.12962	0.165	0.06955	0.478074523868	0.47436	0.2791716987174182	0.27830	0.117414492115	0.13229	0.415433883667	0.27207	T	0.187121	0.54062	T	-0.334905	0.05749	T	-0.535453	0.18746	T	0.229865804186128	0.21944	T	0.80172	0.44782	T	0.09141612	0.21421	0.06911029	0.14521	0.09141612	0.21420	0.06911029	0.14521	-4.287	0.27994	T	.	.	0.085	0.10208	B	.	.	2.868804	0.37927	20.6	0.98928590678678341	0.48695	0.27545	0.23307	N	AEFDBCI	0.126801	0.24390	N	-0.587405131620681	0.19327	1.010583	-0.553311953885278	0.20718	1.117512	0.999999185624005	0.74766	0.789315	0.99827	0	0.702456	0.74545	0	0.768056	0.98339	0	0.735409	0.98432	0	.	.	4.15	1.83	0.24279	1.359000	0.33717	.	.	0.545000	0.25583	0.001000	0.13787	0.143000	0.23109	0.569000	0.30626	0.3639:0.4587:0.1774:0.0	6.595	0.21860	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1357.43	37	chr19	44758776	.	C	T	1357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=406;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.446;SOR=1.027	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1369,0,824	9	0	1	0
chr19	44878273	44878273	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1093A:p.V365M	.	409	1093	20	0	0	20	0.00906618	.	.	.	2808886	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.150	.	0.0025	0.00399361	0.0102	0	0.0038	0	0.0238	0.0054	0	0.0428	0.0014618	226	154602	rs201037066	0.0038	0.0036	0.0035	0.0041	0.0116	0.0037	0.0037	0.0109	0.0107	0.0006	0.0006	0.0025	5.91e-05	0.0085	0.0040	0.0033	0.0033	0.0116	0.0028	0.0028	0.0024	0.0032	0.0121	0.0026	0.0025	0.0096	0.0087	0.0007	0	0.0010	0.0020	0.0002	0.0071	0.0034	0.0035	0.0005	0.0121	0.054	0.38633	T	0.084	0.41239	T	0.861	0.47410	P	0.173	0.35463	B	.	.	.	.	1	0.81001	D	.	.	.	-0.53	0.70833	T	-1.27	0.31981	N	0.219	0.24510	-0.6000	0.64817	T	0.234	0.60124	T	9	0.008009136	0.00182	T	.	.	.	0.150	0.39571	.	.	0.737711754149	0.73536	.	.	.	.	.	.	.	.	.	.	-0.446057	0.01191	T	-0.404112	0.32908	T	0.0117879295304798	0.00182	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	-7.608	0.58367	D	.	.	0.223	0.45384	B	.	.	3.629833	0.51407	23.1	0.99887540941415998	0.96204	0.89664	0.50274	D	AEFDBI	0.388972	0.46837	N	0.301856988620212	0.56242	3.789	0.355470249689991	0.58839	4.056976	0.976040442937437	0.29689	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.66	4.63	0.57175	2.479000	0.44857	.	.	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1701:0.0:0.8299:0.0	8.778	0.33933	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	0	0	1	0	0.003342	0.000000	0.000000	0.017361	0.000000	0.000000	0.000000	0.010309	0.05	494.43	41	chr19	44878273	.	G	A	494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.514;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.019;SOR=0.743	GT:AD:DP:GQ:PL	0/1:36,24:60:99:506,0,872	9	0	1	0
chr19	45145960	45145960	A	C	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon11:c.A1904C:p.N635T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.383450949843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.494	0.11407	T	.	.	.	.	.	.	0.000063	0.52346	D	0.128852	0.674482	0.30335	N	2.125	0.59049	M	-1.19	0.78427	T	-1.67	0.39887	N	0.254	0.28732	-0.0036	0.82181	T	0.494	0.80791	T	10	0.31699622	0.49114	T	0.383451	0.93025	D	0.297	0.61730	0.108	0.01928	0.470318359215	0.46658	0.204325561796925	0.20349	.	.	0.719209909439	0.69931	T	0.008682	0.07952	T	-0.0152207	0.49531	T	-0.25964	0.48860	T	0.909197807312012	0.56402	D	0.767423	0.39577	T	0.14088982	0.32488	0.11177651	0.26964	0.14088982	0.32488	0.11177651	0.26964	-5.133	0.38253	T	.	.	0.377	0.58257	A	.	.	3.288581	0.45089	22.1	0.9954649483533502	0.70836	0.97287	0.73806	D	AEFDBI	0.668651	0.63635	D	0.491995863998126	0.66620	4.973914	0.508507079167324	0.68562	5.237117	0.925024085227782	0.26800	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.27	5.27	0.73797	5.944000	0.69931	11.010000	0.84848	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	1.0:0.0:0.0:0.0	11.564	0.50048	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	545.43	33	chr19	45145960	.	A	C	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.94;DP=323;ExcessHet=0;FS=2.843;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.042;SOR=1.201	GT:AD:DP:GQ:PL	0/1:18,21:39:99:557,0,396	9	0	1	0
chr19	46722813	46722813	T	G	exonic	STRN4	.	nonsynonymous SNV	STRN4:NM_001039877:exon14:c.A1924C:p.S642R,STRN4:NM_013403:exon14:c.A1903C:p.S635R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0556821470172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.257	0.23231	T	0.937	0.52445	P	0.4	0.44481	B	0.000003	0.62929	D	0.104196	0.987904	0.40670	D	1.87	0.49600	L	-0.2	0.66113	T	-1.48	0.42001	N	0.249	0.40264	-0.8486	0.52065	T	0.139	0.45715	T	10	0.17901903	0.33015	T	0.055682	0.66325	D	0.221	0.51721	0.329	0.31357	0.271610670623	0.26767	0.23132193971189838	0.23047	0.574447789344	0.53476	0.509414970875	0.40140	T	0.028227	0.20494	T	-0.00540614	0.50908	T	-0.245542	0.50257	T	0.783340811729431	0.45260	D	0.825517	0.48813	T	0.23014061	0.45764	0.1973257	0.43509	0.23014061	0.45764	0.1973257	0.43508	-7.439	0.57180	T	.	.	0.280	0.52052	B	.;.;.	.;.;.	3.281533	0.44963	22.0	0.9959222493415667	0.73690	0.76359	0.37444	D	AEFDBCI	0.463482	0.51238	N	-0.0605444532853647	0.39132	2.302845	0.0210565242209879	0.40694	2.432728	0.999999955780788	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.29	5.29	0.74430	1.816000	0.38630	4.976000	0.46431	0.665000	0.62972	0.945000	0.32849	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.0:1.0	11.621	0.50378	929	0.16858	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	33	chr19	46722813	.	T	G	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.606;DP=394;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=2;SOR=0.938	GT:AD:DP:GQ:PL	0/1:31,53:84:99:1201,0,693	9	0	1	0
chr19	48062060	48062060	G	A	exonic	PLA2G4C	.	nonsynonymous SNV	PLA2G4C:NM_001159322:exon14:c.C1225T:p.P409S,PLA2G4C:NM_001159323:exon14:c.C1195T:p.P399S,PLA2G4C:NM_003706:exon14:c.C1195T:p.P399S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00672958649144	0.0015	0.00259585	0.0004	0.0046	0.0002	0	0	1.502e-05	0	6.161e-05	0.0004334	67	154602	rs148052871	0.0002	0.0002	0.0002	0.0001	0.0061	0.0002	0.0002	0.0054	0.0051	0.0061	0.0003	3.827e-05	2.521e-05	0	0.0009	9.893e-06	0.0004	1.16e-05	0.0018	0.0018	0.0018	0.0018	0.0060	0.0016	0.0016	0.0054	0.0052	0.0060	0	0.0014	0.0003	0	0	0	1.47e-05	0.0009	0	0.202	0.20230	T	0.615	0.07617	T	0.004	0.12183	B	0.002	0.06944	B	0.756130	0.06513	U	1.141090	0.999999	0.08975	N	0.955	0.23872	L	3.12	0.08106	T	-2.31	0.51319	N	0.101	0.08366	-0.9494	0.41075	T	0.009	0.03315	T	10	0.009972185	0.00223	T	0.00673	0.17784	T	0.045	0.12272	.	.	0.268660756437	0.26461	0.40475419626142306	0.40391	0.0982251182252	0.11086	0.476905494928	0.35630	T	0.002951	0.23589	T	-0.607661	0.00131	T	-0.643167	0.09440	T	0.0079400527196051	0.00094	T	0.430857	0.14839	T	0.057396073	0.11417	0.062701546	0.12309	0.057396073	0.11417	0.062701546	0.12308	-6.801	0.52567	T	.	.	0.426	0.61004	A	.;.;.;.	.;.;.;.	0.669049	0.10374	7.101	0.94011673416395058	0.24113	0.16448	0.19394	N	AEFDBHCI	0.059844	0.11331	N	-0.951250223009228	0.09664	0.4584008	-0.959725776874871	0.10698	0.5404766	0.999999971842046	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.52208	0.10781	0	0.613276	0.41899	0	.	.	2.79	0.352	0.15287	2.263000	0.42950	0.762000	0.21323	-0.447000	0.05153	0.983000	0.35670	0.999000	0.35428	0.026000	0.12556	0.1418:0.0:0.6282:0.23	3.905	0.08679	609	0.67094	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1090.43	38	chr19	48062060	.	G	A	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.318;DP=420;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.66;SOR=0.883	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1102,0,991	9	0	1	0
chr19	48703561	48703561	G	A	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.G605A:p.R202Q,FUT2:NM_001097638:exon2:c.G605A:p.R202Q	.	414	1106	2	0	0	2	0.000903342	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.184141044099	0.0026	0.00119808	0.0027	0.0011	8.654e-05	0	0.0036	0.0044	0	6.101e-05	0.0027813	430	154602	rs142821014	0.0036	0.0036	0.0038	0.0034	0.0045	0.0035	0.0035	0.0044	0.0044	0.0005	0.0003	7.652e-05	0	0.0020	0.0003	0.0045	0.0022	6.985e-05	0.0018	0.0018	0.0020	0.0016	0.0033	0.0017	0.0016	0.0030	0.0028	0.0007	0	0.0002	0	0	0.0018	0	0.0033	0.0009	0	0.012	0.56456	D	0.0	0.92824	D	0.921	0.51088	P	0.557	0.49454	P	.	.	.	.	0.977958	0.39415	D	3.005	0.85968	M	-5.26	0.98928	D	-3.33	0.68298	D	0.735	0.75283	1.128	0.99920	D	0.958	0.98653	D	9	0.029679626	0.01094	T	0.184141	0.85730	D	0.794	0.93227	.	.	0.978187736363	0.97795	0.9084123613983252	0.90814	0.595181292919	0.54804	0.515976130962	0.41060	T	0.247905	0.61762	T	0.14077	0.68398	D	0.434557	0.93173	D	0.0577554860687988	0.06810	T	0.932107	0.74696	D	0.6640445	0.76115	0.53771865	0.73285	0.69642836	0.77863	0.47672263	0.69682	-9.861	0.73075	D	.	.	0.376	0.60079	A	.;.;.	.;.;.	4.421931	0.68494	25.2	0.99922493442964244	0.98852	0.90461	0.51656	D	AEFGBI	0.640911	0.61844	D	0.499767533852993	0.67077	5.033773	0.415194802067914	0.62511	4.467667	0.999785654062136	0.43007	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.05	5.05	0.67566	4.243000	0.58516	4.643000	0.44164	0.665000	0.62972	0.985000	0.35982	0.999000	0.35428	0.585000	0.31016	0.0:0.0:1.0:0.0	16.275	0.82465	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	.	.	.	.	.	.	.	.	0.05	1596.43	35	chr19	48703561	.	G	A	1596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=767;ExcessHet=0;FS=1.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.922;SOR=0.549	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1608,0,1116	9	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G,CGB2:NM_033378:exon2:c.C82G:p.R28G	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041339	0.049020	0.062500	0.049383	0.000000	0.026786	0.028689	0.000000	0.05	93.54	5	chr19	49032576	.	C	G	93.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=85;ExcessHet=0;FS=0;InbreedingCoeff=-0.062;MLEAC=1;MLEAF=0.05;MQ=40;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:86:105,0,86	9	0	1	0
chr19	49601568	49601568	C	A	exonic	PRR12	.	nonsynonymous SNV	PRR12:NM_020719:exon6:c.C4423A:p.P1475T	.	436	1082	4	0	0	4	0.00184502	.	.	.	2308853	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.064	.	.	0.000798722	0.0033	0.0049	0	0	0	0.0050	0.0147	0.0024	0.0010349	160	154602	rs201085398	0.0075	0.0072	0.0076	0.0074	0.0088	0.0074	0.0073	0.0086	0.0086	0.0016	0.0032	0.0011	2.802e-05	0.0052	0.0014	0.0088	0.0062	0.0025	0.0053	0.0053	0.0057	0.0048	0.0089	0.0050	0.0049	0.0083	0.0081	0.0016	0	0.0036	0.0014	0.0002	0.0045	0	0.0089	0.0062	0.0023	0.126	0.27194	T	0.063	0.57104	T	0.998	0.73220	D	0.882	0.62632	P	.	.	.	.	0.68898	0.30209	N	.	.	.	.	.	.	0.11	0.05706	N	0.367	0.40864	-0.8855	0.49315	T	0.167	0.50551	T	7	0.0067171752	0.00152	T	.	.	.	0.064	0.18567	.	.	0.220282294035	0.21616	0.5105150799299759	0.50973	0.239103485473	0.26464	0.781184792519	0.79106	T	0.001622	0.01056	T	-0.428862	0.01506	T	-0.382692	0.35406	T	0.00843588810460558	0.00102	T	0.514049	0.16524	T	0.09577984	0.22548	0.0833263	0.19086	0.09577984	0.22548	0.0833263	0.19085	.	.	.	.	.	0.085	0.10449	B	.;.	.;.	1.522176	0.19539	14.32	0.86546273947298658	0.16609	0.80976	0.40481	D	AEFDBI	0.064218	0.12458	N	-0.0340359885917116	0.40317	2.392333	-0.185247029661872	0.32078	1.821458	0.998823525256097	0.37755	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.2	2.2	0.26966	1.375000	0.33900	0.000000	0.13247	0.306000	0.19039	0.258000	0.24929	0.358000	0.24506	0.125000	0.19370	0.0:1.0:0.0:0.0	7.948	0.29157	753	0.51500	.;.	.	.	.	.	.	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	0.004818	0.000000	0.001462	0.009202	0.050000	0.000000	0.006536	0.007937	0.05	1236.43	35	chr19	49601568	.	C	A	1236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.938;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=1.95;SOR=0.728	GT:AD:DP:GQ:PL	0/1:26,50:76:99:1248,0,652	9	0	1	0
chr19	49971294	49971294	G	A	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon4:c.G871A:p.G291R	.	428	1093	0	1	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	.	.	1.215e-05	0	0	0	0	2.318e-05	0	0	6.5e-06	1	154602	rs765091387	1.463e-05	1.506e-05	1.387e-05	1.54e-05	0.0002	9.4e-06	7.98e-06	3.804e-05	2.686e-05	0	2.265e-05	0	0	0	0.0002	9.161e-06	3.375e-05	8.208e-05	6.717e-06	6.578e-06	0	1.38e-05	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	.	.	.	.	.	.	.	.	0.05	912.43	78	chr19	49971294	.	G	A	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.123;DP=469;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.91;MQRankSum=-4.609;QD=9.41;ReadPosRankSum=0.594;SOR=0.793	GT:AD:DP:GQ:PL	0/1:55,42:97:99:924,0,1379	9	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	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	.	.	.	.	.	.	.	.	0.1	66.14	91	chr19	51746559	.	T	C	66.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-6.057;DP=1532;ExcessHet=0.2348;FS=164.549;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=-0.656;SOR=9.641	GT:AD:DP:GQ:PL	0/1:150,45:195:37:37,0,3289	8	0	2	0
chr19	52384826	52384826	-	GTGAAAC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1246_1247insGTGAAAC:p.A416Gfs*5	.	475	1021	5	0	21	26	0.0024426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0	0.0004	0	0.0004	0	0.0003	3.84e-05	1	26028	rs754636078	0.0030	0.0085	0.0028	0.0033	0.0147	0.0030	0.0029	0.0139	0.0135	0.0028	0.0044	0.0043	0.0025	0.0030	0.0039	0.0021	0.0040	0.0147	0.0017	0.0062	0.0019	0.0014	0.0040	0.0014	0.0013	0.0019	0.0016	0.0010	0.0021	0.0013	0.0031	0.0010	0.0009	0	0.0021	0.0030	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	265.94	68	chr19	52384826	.	G	GGTGAAAC	265.94	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=561;ExcessHet=0.2348;FS=29.038;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.083;MQ=59.11;MQRankSum=0.445;QD=2.05;ReadPosRankSum=-3.35;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,5:59:47:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:47,0,2251:52384817	5	0	1	4
chr19	53351964	53351964	G	A	exonic	ZNF845	.	nonsynonymous SNV	ZNF845:NM_138374:exon4:c.G1289A:p.R430H,ZNF845:NM_001321522:exon5:c.G1289A:p.R430H,ZNF845:NM_001321523:exon5:c.G1289A:p.R430H,ZNF845:NM_001321524:exon5:c.G1289A:p.R430H	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00102895212837	0.0004	0.000399361	0.0003	0.0008	0.0003	0	0	6.02e-05	0	0.0015	0.0002781	43	154602	rs376557003	0.0001	0.0001	9.529e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0.0003	8.945e-05	3.827e-05	0	0	0.0009	3.867e-05	0.0002	0.0013	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0.0005	0	0.0001	0	0	9.445e-05	0	5.884e-05	0	0.0019	0.139	0.25768	T	0.167	0.30729	T	0.028	0.19712	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	1.005	0.25186	L	1.26	0.36330	T	-0.77	0.21429	N	0.042	0.02658	-1.0109	0.26635	T	0.056	0.23413	T	9	0.012166947	0.00262	T	0.001029	0.01144	T	0.004	0.00165	.	.	0.0806252709748	0.07271	0.034721129528890435	0.03419	0.206282902371	0.23055	0.192700564861	0.00277	T	0.001982	0.01394	T	-0.638461	0.00085	T	-0.735433	0.04086	T	0.00375390209304877	0.00040	T	0.948805	0.80311	D	0.020439645	0.00602	0.030393867	0.01490	0.020439645	0.00602	0.030393867	0.01490	-5.937	0.45749	T	.	.	0.117	0.23814	B	.;.	.;.	0.024079	0.04450	1.175	0.9180740453976769	0.21114	0.00560	0.02552	N	AEFBI	0.016032	0.00337	N	-1.29779017112939	0.03703	0.1658628	-1.41217129364416	0.03129	0.1453832	3.37234305476604E-4	0.06583	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.9	-0.996	0.09696	-0.516000	0.06367	.	.	-1.220000	0.01339	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5171:0.0:0.2842:0.1987	2.676	0.04766	994	0.00715	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	0.001057	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.003788	0.05	2412.43	160	chr19	53351964	.	G	A	2412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=677;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.42;MQRankSum=-0.247;QD=11.6;ReadPosRankSum=-1.378;SOR=0.788	GT:AD:DP:GQ:PL	0/1:114,94:208:99:2424,0,2765	9	0	1	0
chr19	54729493	54729493	G	A	exonic	KIR3DL3	.	nonsynonymous SNV	KIR3DL3:NM_153443:exon5:c.G656A:p.G219D	.	422	1073	25	2	0	29	0.0133333	0.0157	0.208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00113306265672	.	.	.	.	.	.	.	.	.	.	0.0002199	34	154602	rs764066889	0.0017	0.0017	0.0017	0.0018	0.0218	0.0017	0.0016	0.0187	0.0175	0.0009	0.0021	0.0134	0	0	0.0218	0.0015	0.0028	0.0007	0.0016	0.0016	0.0016	0.0016	0.0027	0.0015	0.0014	0.0020	0.0018	0.0005	0	0.0027	0.0136	0	0	0.0312	0.0016	0.0070	0.0004	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	0.189329	0.16889	U	0.338725	0.999997	0.08975	N	.	.	.	5.22	0.01150	T	-5.43	0.85323	D	0.221	0.24758	-1.0618	0.11312	T	0.014	0.05705	T	9	0.09719387	0.17486	T	0.001133	0.01385	T	0.064	0.18567	0.737	0.86978	0.501484525772	0.49784	0.191655246118269	0.19083	4.01563215202	0.99884	0.487657159567	0.37114	T	.	.	.	-0.144822	0.29125	T	-0.445803	0.28160	T	0.895166993141174	0.54667	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63028	A	.	.	2.524135	0.32625	19.10	0.99519703192959086	0.69161	0.03114	0.08053	N	AEFBI	0.050332	0.08785	N	-0.171640536624951	0.34319	1.95742	-0.493388739204565	0.22335	1.212629	4.23643939921456E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.37	1.37	0.21200	1.483000	0.35105	.	.	0.418000	0.20770	0.020000	0.19661	0.000000	0.08366	0.010000	0.09038	0.0:0.0:1.0:0.0	6.108	0.19305	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	5199.14	302	chr19	54729493	.	G	A	5199.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.189;DP=2321;ExcessHet=0.2348;FS=1.112;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=1.15;QD=11.79;ReadPosRankSum=0.36;SOR=0.606	GT:AD:DP:GQ:PL	0/1:128,106:234:99:2449,0,3162	8	0	2	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	.	.	.	.	.	.	.	.	0.3333	5010.71	35	chr19	54739533	.	C	A	5010.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.5;DP=3120;ExcessHet=4.5998;FS=1.537;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=55.29;MQRankSum=0.189;QD=2;ReadPosRankSum=1.51;SOR=0.525	GT:AD:DP:GQ:PL	0/1:272,31:303:39:39,0,7505	3	0	6	1
chr19	54825064	54825064	C	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001282171:exon4:c.C665G:p.P222R,KIR3DS1:NM_001282170:exon5:c.C701G:p.P234R,KIR3DS1:NM_001083539:exon6:c.C986G:p.P329R,KIR3DL1:NM_001322168:exon6:c.C986G:p.P329R,LOC112268355:NM_001368254:exon6:c.C986G:p.P329R,KIR3DL1:NM_013289:exon6:c.C986G:p.P329R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000538701120536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.448e-06	2.071e-06	1.446e-06	1.45e-06	1.923e-06	2.4e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.923e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	0.967	0.56408	D	0.818	0.58969	P	.	.	.	.	1	0.08975	N	3.155	0.88459	M	6.83	0.00490	T	-4.61	0.81675	D	0.234	0.26354	-0.9398	0.42648	T	0.004	0.01192	T	9	0.15433282	0.29113	T	5.39E-4	0.00196	T	0.034	0.08419	0.443	0.49975	0.224531998449	0.22054	0.07559245813323216	0.07495	2.71460215636	0.98613	.	.	.	0.064285	0.32395	T	-0.256801	0.13278	T	-0.606654	0.12259	T	0.777831971645355	0.44916	D	.	.	.	0.15852536	0.35659	0.16635545	0.38436	0.15852536	0.35659	0.16635545	0.38436	-8.848	0.66713	D	.	.	0.124	0.29697	B	.;.	.;.	2.251726	0.28762	17.90	0.99173528652221188	0.54469	0.00757	0.03139	N	AEFDI	0.034423	0.04260	N	-0.442062859569343	0.24009	1.29345	-0.794657092075482	0.14626	0.7651832	5.44035575126597E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.35	-1.29	0.08805	-0.285000	0.08444	.	.	0.384000	0.20435	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.3226:0.4444:0.0:0.233	1.843	0.02962	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3271.12	33	chr19	54825064	.	C	G	3271.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.279;DP=440;ExcessHet=0;FS=15.935;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=40.86;MQRankSum=2.28;QD=25.16;ReadPosRankSum=-0.029;SOR=0.492	GT:AD:DP:GQ:PL	1/1:8,122:130:99:3294,116,0	9	1	0	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,97:97:99:.:.:4263,300,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,97:97:99:.:.:4263,300,0:.	1	8	1	0
chr19	57702458	57702458	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G491A:p.S164N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0073	0.00439297	0.0066	0.0013	0.0025	0.0122	0.0150	0.0079	0.0066	0.0010	0.0064165	992	154602	rs61738876	0.0091	0.0091	0.0093	0.0088	0.0104	0.0089	0.0089	0.0102	0.0101	0.0015	0.0027	0.0010	0.0091	0.0124	0.0002	0.0104	0.0063	0.0013	0.0065	0.0065	0.0065	0.0065	0.0114	0.0062	0.0060	0.0092	0.0090	0.0014	0	0.0026	0.0012	0.0114	0.0136	0	0.0099	0.0038	0.0014	0.14	0.25664	T	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.71	0.04046	T	-0.75	0.21003	N	0.09	0.06854	-0.9203	0.45513	T	0.003	0.00994	T	9	0.004165828	0.00082	T	.	.	.	0.040	0.10527	.	.	0.0986583533028	0.09354	0.03319861772966154	0.03267	0.086980305371	0.09809	0.242131650448	0.02985	T	0.005791	0.05238	T	-0.787549	0.00010	T	-0.891712	0.00563	T	0.00463790540218513	0.00050	T	.	.	.	0.14616975	0.33473	0.10676776	0.25691	0.14616975	0.33473	0.10676776	0.25690	-5.569	0.42508	T	.	.	0.158	0.34970	B	.	.	-0.437667	0.02075	0.192	0.86377061022671786	0.16495	0.01518	0.05011	N	AEFBI	0.025335	0.01718	N	-1.2493264316387	0.04309	0.194205	-1.23585155959919	0.05344	0.254384	1.03873629729759E-4	0.05123	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.03	-0.407	0.11768	-5.338000	0.00155	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.4907:0.233:0.2763	3.104	0.05954	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs61738876	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	4811.14	37	chr19	57702458	.	C	T	4811.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=807;ExcessHet=0.2348;FS=1.738;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.701;SOR=0.856	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2321,0,2697	8	0	2	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S,ZNF417:NM_152475:exon1:c.C29G:p.T10S	.	424	1091	7	0	0	7	0.00319781	.	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	2852.14	36	chr19	57916383	.	G	C	2852.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.2;DP=559;ExcessHet=0.2348;FS=1.465;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.87;MQRankSum=-1.791;QD=10.45;ReadPosRankSum=0.161;SOR=0.815	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1404,0,1488	8	0	2	0
chr19	58352307	58352307	C	T	exonic	A1BG	.	nonsynonymous SNV	A1BG:NM_130786:exon4:c.G589A:p.A197T	.	421	1098	3	0	0	3	0.00136426	.	.	.	4156662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00431231738522	7.7e-05	.	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001617	25	154602	rs144826779	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	0	0	0.0007	0.0001	0.0003	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0	0	0	0	0.0002	0.0010	0	0.445	0.09128	T	0.134	0.34241	T	0.988	0.62325	D	0.841	0.60228	P	0.517293	0.11780	N	0.730498	1	0.08975	N	2.31	0.66127	M	2.84	0.10674	T	-1.34	0.33401	N	0.08	0.05542	-1.0520	0.13845	T	0.042	0.18160	T	10	0.055089265	0.05967	T	0.004312	0.10467	T	0.016	0.02506	.	.	0.390531646278	0.38663	0.13604056539130271	0.13528	0.440054656448	0.44022	0.535411715508	0.43797	T	0.189101	0.54322	T	-0.582029	0.00187	T	-0.776262	0.02568	T	0.102672815322876	0.12648	T	0.478952	0.15565	T	0.03136811	0.02964	0.042350035	0.05024	0.03136811	0.02964	0.042350035	0.05024	-6.42	0.49665	T	.	.	0.083	0.17953	B	.;.	.;.	0.813613	0.11844	8.414	0.98922388499240144	0.48583	0.05302	0.11149	N	AEFDBCI	0.120631	0.23490	N	-0.556076229741275	0.20294	1.068741	-0.810572058593686	0.14239	0.7430059	0.989332410214383	0.31792	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	3.39	0.00313	0.13375	-0.085000	0.11215	-0.724000	0.07692	-0.835000	0.02838	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2148:0.5455:0.0:0.2397	2.966	0.05548	958	0.09170	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1713.43	36	chr19	58352307	.	C	T	1713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.07;DP=462;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.396;SOR=0.818	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1725,0,1263	9	0	1	0
chr20	3672800	3672800	G	A	exonic	ADAM33	.	nonsynonymous SNV	ADAM33:NM_001282447:exon12:c.C1232T:p.P411L,ADAM33:NM_025220:exon12:c.C1232T:p.P411L,ADAM33:NM_153202:exon12:c.C1232T:p.P411L	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0124492320735	.	0.000998403	0.0010	0.0002	0	0	0	7.375e-05	0.0021	0.0066	0.0005757	89	154602	rs532929915	0.0003	0.0003	0.0001	0.0004	0.0043	0.0003	0.0002	0.0039	0.0038	3.091e-05	0	0	0	0	0.0009	1.281e-05	0.0002	0.0043	0.0002	0.0002	0.0001	0.0002	0.0043	0.0001	0.0001	0.0029	0.0024	2.404e-05	0	0	0	0	0	0	5.879e-05	0	0.0043	0.138	0.27783	T	0.095	0.39492	T	0.015	0.19406	B	0.021	0.24676	B	.	.	.	.	1	0.08975	N	.	.	.	4.73	0.01620	T	-2.18	0.49187	N	0.155	0.24135	-0.9125	0.46543	T	0.006	0.01870	T	9	0.0047920346	0.00101	T	0.012449	0.31033	T	0.015	0.02232	0.335	0.32329	0.186928172975	0.18263	0.43242996816164375	0.43159	0.758253607898	0.64117	0.554195821285	0.46448	T	0.086319	0.37698	T	-0.645673	0.00077	T	-0.699838	0.05835	T	0.0104120472063197	0.00143	T	0.680032	0.28847	T	0.05982978	0.12206	0.06801808	0.14149	0.05982978	0.12205	0.06801808	0.14148	-3.389	0.18088	T	.	.	0.072	0.06849	B	.;.;.;.	.;.;.;.	1.407142	0.18221	13.62	0.9163655327292306	0.20923	0.03492	0.08660	N	AEFDBCI	0.159601	0.28542	N	-0.946985684577288	0.09760	0.4633692	-0.97610970232954	0.10324	0.5192061	0.999876307426344	0.44625	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.43	1.36	0.21139	1.656000	0.36971	3.512000	0.38846	0.616000	0.49467	0.013000	0.18845	0.732000	0.26423	0.011000	0.09372	0.1717:0.149:0.6793:0.0	6.520	0.21469	632	0.64850	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	621.43	37	chr20	3672800	.	G	A	621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.252;DP=388;ExcessHet=0;FS=1.006;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.06;SOR=0.527	GT:AD:DP:GQ:PL	0/1:30,27:57:99:633,0,708	9	0	1	0
chr20	5106224	5106224	T	C	exonic	TMEM230	.	nonsynonymous SNV	TMEM230:NM_001009925:exon3:c.A186G:p.I62M,TMEM230:NM_001330985:exon3:c.A186G:p.I62M,TMEM230:NM_001330986:exon3:c.A186G:p.I62M,TMEM230:NM_001330987:exon3:c.A186G:p.I62M,TMEM230:NM_014145:exon3:c.A186G:p.I62M,TMEM230:NM_001009923:exon4:c.A375G:p.I125M,TMEM230:NM_001009924:exon4:c.A186G:p.I62M,TMEM230:NM_001330984:exon4:c.A186G:p.I62M	.	498	1023	1	0	0	1	0.00048852	.	.	.	1526231	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.247	0.0223845270806	0.0005	0.000599042	0.0009	9.614e-05	8.637e-05	0	0.0035	0.0012	0.0022	6.061e-05	0.0008538	132	154602	rs148033002	0.0010	0.0010	0.0010	0.0010	0.0009	0.0010	0.0010	0.0009	0.0008	0.0003	0.0006	0.0080	0	0.0033	0.0003	0.0009	0.0013	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0010	0.0009	0.0009	0.0007	0.0006	0.0002	0	0.0010	0.0084	0	0.0040	0	0.0009	0.0028	0	0.285	0.21968	T	0.054	0.47097	T	0.934	0.77913	P	0.64	0.72692	P	0.000000	0.84330	D	0.000000	0.999934	0.51612	D	1.935	0.51832	L	0.84	0.47477	T	-0.68	0.22727	N	0.522	0.57775	-0.9138	0.46377	T	0.182	0.53011	T	10	0.012658149	0.00271	T	0.022385	0.45274	T	0.247	0.55478	.	.	0.151104730317	0.14643	0.8339449554676419	0.83353	0.787649090982	0.65612	0.636922240257	0.58127	T	0.016888	0.19745	T	-0.296397	0.09005	T	-0.223157	0.52432	T	0.045536301761534	0.04699	T	0.813219	0.47377	T	0.10336895	0.24431	0.068868764	0.14438	0.10336895	0.24431	0.068868764	0.14437	-5.254	0.41284	T	.	.	0.286	0.51857	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.562008	0.33183	19.26	0.99254734236094277	0.56989	0.79956	0.39726	D	AEFBI	0.353055	0.44561	N	0.0586384747242887	0.44542	2.72624	-0.0187462732004428	0.38868	2.29622	0.634208787341043	0.21995	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	1.43	0.21585	-0.250000	0.08849	0.886000	0.22434	0.661000	0.55757	0.751000	0.29144	1.000000	0.68203	0.992000	0.67800	0.4205:0.0:0.2584:0.321	5.677	0.17026	952	0.10565	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	845.43	47	chr20	5106224	.	T	C	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=415;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.104;SOR=0.709	GT:AD:DP:GQ:PL	0/1:28,32:60:99:857,0,632	9	0	1	0
chr20	32434529	32434529	G	A	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.G1634A:p.R545Q,ASXL1:NM_015338:exon12:c.G1817A:p.R606Q	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1518	4	0	0	4	0.00131579	.	.	.	137330	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.091	0.00573163330783	.	.	8.376e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs587778061	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0001	8.31e-06	6.7e-06	6.246e-05	4.757e-05	0	0	0	7.557e-05	0	0	5.396e-06	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.105	0.30097	T	0.17	0.30729	T	0.998	0.73220	D	0.941	0.67658	D	0.000002	0.62929	D	0.058920	0.991342	0.41366	D	2.135	0.59519	M	1.13	0.38556	T	-1.02	0.26843	N	0.237	0.38848	-1.0246	0.22214	T	0.159	0.49228	T	10	0.202584	0.36383	T	0.005732	0.14862	T	0.091	0.26358	0.389	0.41115	0.558342666981	0.55495	0.40875104621991576	0.40791	0.389394466878	0.40179	0.410139232874	0.26476	T	0.19763	0.55436	T	-0.188593	0.22465	T	-0.327149	0.41787	T	0.738233625888824	0.42642	D	0.940606	0.77652	D	0.19157045	0.40790	0.16870488	0.38851	0.19157045	0.40790	0.16870488	0.38850	-5.151	0.38439	T	.	.	0.117	0.23675	B	.;.;.;.;.	.;.;.;.;.	4.434897	0.68801	25.3	0.99946978788278895	0.99913	0.86238	0.45480	D	AEFDBCI	0.155125	0.28027	N	0.397852672095141	0.61304	4.329822	0.446141839732701	0.64468	4.702871	0.999999474996245	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.41	4.45	0.53365	1.983000	0.40270	11.928000	0.99887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1356:0.0:0.8644:0.0	11.955	0.52263	518	0.74548	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1262.43	40	chr20	32434529	.	G	A	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.755;SOR=0.73	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1274,0,1161	9	0	1	0
chr20	33097705	33097705	C	T	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon11:c.C1487T:p.A496V	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00263204837488	7.7e-05	0.00119808	0.0009	0	0.0007	0	0	0.0003	0.0022	0.0048	0.0007762	120	154602	rs199856517	0.0004	0.0004	0.0003	0.0005	0.0041	0.0004	0.0004	0.0037	0.0036	5.974e-05	0.0002	3.826e-05	2.519e-05	0	0.0031	0.0002	0.0007	0.0041	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	4.81e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0046	0.13	0.26740	T	0.007	0.69154	D	0.993	0.65571	D	0.716	0.54713	P	0.000033	0.55875	D	0.075509	0.768142	0.34119	D	2.2	0.62015	M	3.25	0.06762	T	-2.87	0.60348	D	0.571	0.59393	-1.0434	0.16294	T	0.052	0.21921	T	10	0.010781407	0.00238	T	0.002632	0.05349	T	0.166	0.42578	.	.	0.119812018005	0.11559	0.35861397347417834	0.35775	0.120734834091	0.13598	0.400557547808	0.25147	T	0.009758	0.08861	T	-0.447885	0.01162	T	-0.414904	0.31661	T	0.0691948620007443	0.08538	T	0.80002	0.44558	T	0.26235396	0.49297	0.2895609	0.54977	0.26235396	0.49297	0.2895609	0.54976	-5.132	0.38242	T	.	.	0.332	0.55355	B	.	.	4.632907	0.73682	26.0	0.9988309296810417	0.95892	0.48454	0.28210	N	AEFGBI	0.130857	0.24958	N	0.355486671861435	0.59031	4.079211	0.304003862488747	0.55775	3.740293	0.664768606090266	0.22310	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	1.296000	0.32994	5.759000	0.49672	0.599000	0.40250	0.848000	0.30412	1.000000	0.68203	0.845000	0.39915	0.0:1.0:0.0:0.0	15.104	0.71975	100	0.95872	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, 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	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.003788	0.05	1085.43	34	chr20	33097705	.	C	T	1085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.515;SOR=0.681	GT:AD:DP:GQ:PL	0/1:63,48:111:99:1097,0,1492	9	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	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:75,60:142:99:572,0,907	2	0	8	0
chr20	35502836	35502836	A	C	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.A2571C:p.L857F,CEP250:NM_007186:exon30:c.A4467C:p.L1489F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00752142283249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.096	0.39340	T	1.0	0.90584	D	0.989	0.78396	D	0.011142	0.29642	N	0.155351	0.807295	0.29043	N	2.565	0.75005	M	2.43	0.15261	T	-1.77	0.41809	N	0.433	0.47208	-1.0144	0.25529	T	0.100	0.37188	T	10	0.2367337	0.40761	T	0.007521	0.19952	T	0.139	0.37390	0.125	0.03095	0.400468435593	0.39662	0.15356438576931045	0.15278	0.645859863428	0.58019	0.43829870224	0.30345	T	0.180427	0.53176	T	-0.11559	0.33847	T	-0.403814	0.32940	T	0.746341228485107	0.43082	D	0.856614	0.54540	D	0.11465619	0.27066	0.15646935	0.36632	0.11465619	0.27066	0.15646935	0.36631	-8.034	0.61302	D	.	.	0.436	0.61526	A	.	.	2.425465	0.31191	18.67	0.99811450715218619	0.89531	0.69781	0.34324	D	AEFDGBCI	0.098271	0.19805	N	0.162468476385509	0.49403	3.141174	0.00896944213053262	0.40131	2.390101	0.999982042497605	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	0.972	0.18824	0.007000	0.13074	0.108000	0.14741	0.756000	0.94297	0.000000	0.06391	0.120000	0.22892	0.995000	0.73285	0.755:0.0:0.245:0.0	8.34	0.31400	549	0.72275	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	31.43	35	chr20	35502836	.	A	C	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.786;DP=642;ExcessHet=0;FS=261.038;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.75;SOR=8.349	GT:AD:DP:GQ:PL	0/1:85,29:114:43:43,0,1740	9	0	1	0
chr20	36815796	36815796	G	A	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon5:c.C1646T:p.S549L,SOGA1:NM_199181:exon5:c.C932T:p.S311L	.	.	.	.	.	.	.	.	.	.	.	3394523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00542887412588	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs572779614	3.474e-06	4.104e-06	1.379e-06	5.601e-06	1.204e-05	1.02e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.632e-06	0	1.204e-05	2.626e-05	3.281e-05	0	5.371e-05	0.0002	8.14e-06	5.14e-06	.	.	2.406e-05	0	0	0	0.0002	9.414e-05	0	1.47e-05	0	0	0.334	0.12961	T	0.207	0.26969	T	.	.	.	.	.	.	0.013209	0.28915	N	0.364375	0.999911	0.51042	D	.	.	.	2.15	0.19311	T	-0.9	0.24244	N	0.332	0.38950	-1.0906	0.05433	T	0.048	0.20315	T	10	0.07611668	0.11850	T	0.005429	0.13954	T	0.052	0.14661	0.16	0.06396	0.0675242888579	0.06100	0.4752420899660029	0.47443	1.18552487391	0.80133	0.477685570717	0.35738	T	0.030449	0.21583	T	-0.134721	0.30735	T	-0.431294	0.29788	T	0.852333664894104	0.50368	D	0.824517	0.48627	T	.	.	.	.	.	.	.	.	-5.386	0.40785	T	.	.	0.115	0.23883	B	.;.	.;.	4.943830	0.81613	27.6	0.99852823042034478	0.93191	0.90438	0.51614	D	AEFGBHCI	0.553840	0.56493	D	-0.0498756851220142	0.39607	2.338488	0.122349009304703	0.45695	2.828063	0.999999999633384	0.74766	0.631981	0.41245	0	0.653731	0.59785	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	4.962000	0.63395	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.420	0.87404	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1431.43	35	chr20	36815796	.	G	A	1431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.689;DP=455;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.33;SOR=0.79	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1443,0,1489	9	0	1	0
chr20	49906820	49906820	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A362C:p.Y121S,SPATA2:NM_006038:exon3:c.A362C:p.Y121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.030845030118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.036	0.52060	D	0.96	0.55278	D	0.663	0.52893	P	0.004612	0.33568	N	0.293492	0.991121	0.81001	D	2.095	0.58118	M	-0.03	0.63077	T	-2.87	0.60348	D	0.71	0.71498	-0.6788	0.61428	T	0.243	0.61201	T	10	0.58538824	0.66081	D	0.030845	0.53068	D	0.331	0.65325	0.434	0.48500	0.362933182269	0.35899	0.6727801292125147	0.67216	0.399734681576	0.40989	0.4348269701	0.29869	T	0.055225	0.29946	T	0.101775	0.64483	D	-0.0915834	0.64042	T	0.774645328521729	0.44721	D	0.831017	0.49766	T	0.51594	0.68026	0.20415933	0.44526	0.51594	0.68027	0.20415933	0.44525	-6.65	0.51433	T	.	.	0.125	0.27313	B	.;.	.;.	3.113050	0.41995	21.5	0.98055628144904006	0.37905	0.90706	0.52107	D	AEDBHCI	0.411785	0.48212	N	0.0525829897013685	0.44261	2.703404	0.0378185106348584	0.41487	2.493255	0.789198283229838	0.23985	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	4.5	0.54382	3.720000	0.54661	2.343000	0.32266	-0.255000	0.07062	1.000000	0.71638	0.998000	0.33993	0.975000	0.56047	0.2698:0.0:0.0:0.7302	10.019	0.41205	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	.	.	.	.	.	.	.	.	0.05556	90.05	34	chr20	49906820	.	T	G	90.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.224;DP=449;ExcessHet=0;FS=46.518;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=-0.209;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,10:52:99:0|1:49906820_T_G:101,0,1314:49906820	8	0	1	1
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S,SPATA2:NM_006038:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	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	.	.	.	.	.	.	.	.	0.0625	96.73	34	chr20	49906823	.	T	G	96.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.391;DP=427;ExcessHet=0;FS=50.461;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.397;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,10:50:99:0|1:49906820_T_G:107,0,1245:49906820	7	0	1	2
chr20	57652114	57652114	G	A	exonic	PMEPA1	.	nonsynonymous SNV	PMEPA1:NM_001255976:exon4:c.C719T:p.P240L,PMEPA1:NM_020182:exon4:c.C803T:p.P268L,PMEPA1:NM_199169:exon4:c.C698T:p.P233L,PMEPA1:NM_199170:exon4:c.C653T:p.P218L,PMEPA1:NM_199171:exon4:c.C653T:p.P218L	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0019	0.00179712	0.0065	0.0003	0.0104	0	0	0.0089	0.0135	0.0057	0.0022121	342	154602	rs148829733	0.0029	0.0029	0.0028	0.0030	0.0093	0.0028	0.0028	0.0073	0.0066	0.0006	0.0036	0.0035	2.605e-05	0.0004	0.0093	0.0030	0.0033	0.0040	0.0022	0.0022	0.0022	0.0021	0.0046	0.0020	0.0019	0.0038	0.0035	0.0007	0	0.0046	0.0020	0	0.0004	0.0170	0.0029	0.0024	0.0031	0.007	0.68238	D	0.027	0.63918	D	0.137	0.27402	B	0.037	0.23121	B	0.404171	0.13084	N	0.715319	0.706254	0.33472	D	0.69	0.16971	N	0.97	0.42502	T	-3.43	0.68298	D	0.259	0.42149	-0.9347	0.43439	T	0.083	0.32671	T	10	0.0076191127	0.00173	T	.	.	.	0.029	0.06676	.	.	0.12205267543	0.11705	0.36309227256854276	0.36223	0.632557692363	0.57183	0.494021475315	0.37997	T	0.197134	0.55371	T	-0.52124	0.00433	T	-0.522975	0.19995	T	0.0167556808589164	0.00431	T	0.867913	0.56927	D	0.05512273	0.10670	0.058195956	0.10713	0.05512273	0.10670	0.058195956	0.10712	-4.941	0.36193	T	0.2378468361591428	0.32211	0.113	0.22245	B	.;.;.;.;.	.;.;.;.;.	1.750648	0.22270	15.55	0.96805604297800951	0.31169	0.71454	0.35020	D	AEFDGBCI	0.247569	0.36812	N	-0.436719195244775	0.24192	1.304559	-0.395558123697557	0.25129	1.380115	0.990729299226161	0.32248	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.47	3.38	0.37806	1.325000	0.33330	5.046000	0.46955	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.004000	0.06068	0.0:0.3685:0.4945:0.137	7.425	0.26266	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	0.009128	0.015625	0.005450	0.011834	0.000000	0.000000	0.018519	0.007576	0.05	499.43	56	chr20	57652114	.	G	A	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.227;DP=417;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.546;SOR=1.011	GT:AD:DP:GQ:PL	0/1:49,24:73:99:511,0,1222	9	0	1	0
chr20	59193754	59193754	C	T	exonic	ZNF831	.	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.C2735T:p.A912V,ZNF831:NM_001384354:exon4:c.C2735T:p.A912V	.	411	1099	12	0	0	12	0.00542986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0107640811923	0.0016	0.000399361	0.0016	0.0001	0.0008	0	0.0003	0.0027	0.0024	0.0001	0.00152	235	154602	rs61742492	0.0012	0.0012	0.0011	0.0013	0.0157	0.0011	0.0011	0.0131	0.0121	0.0003	0.0009	0.0255	0	0.0002	0.0157	0.0006	0.0027	0.0006	0.0014	0.0014	0.0013	0.0016	0.0019	0.0013	0.0012	0.0014	0.0012	0.0001	0	0.0019	0.0268	0	0	0.0034	0.0011	0.0038	0.0008	0.008	0.58626	D	0.177	0.29740	T	0.004	0.12183	B	0.003	0.08700	B	0.642541	0.05876	N	1.230650	1	0.08975	N	0.55	0.14455	N	3.43	0.05440	T	-1.07	0.27876	N	0.039	0.01274	-0.9319	0.43859	T	0.010	0.03492	T	10	0.005129546	0.00111	T	0.010764	0.27663	T	0.027	0.05988	.	.	0.0401082797425	0.02173	0.05713339172068332	0.05654	0.205340813296	0.22955	0.366763174534	0.20366	T	0.004799	0.04217	T	-0.690685	0.00041	T	-0.805431	0.01770	T	0.006050671944802	0.00067	T	0.376562	0.08996	T	0.06877481	0.15012	0.049359716	0.07525	0.06877481	0.15012	0.049359716	0.07524	-4.393	0.29462	T	.	.	0.108	0.21277	B	.;.	.;.	-1.373024	0.00380	0.007	0.81835366463220438	0.13884	0.02077	0.06181	N	AEFDBI	0.047482	0.08001	N	-1.69851546333717	0.00847	0.03663992	-1.74695025622497	0.00945	0.04229511	7.85153011957299E-4	0.07810	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.53	-4.09	0.03685	-2.140000	0.01387	-4.711000	0.02021	-2.499000	0.00264	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.14:0.2853:0.1372:0.4374	1.658	0.02617	993	0.01300	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014617	0.005051	0.017663	0.017544	0.050000	0.051724	0.006135	0.000000	0.05	1112.43	52	chr20	59193754	.	C	T	1112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.756;DP=503;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.49;SOR=1.026	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1124,0,741	9	0	1	0
chr20	62163515	62163515	G	A	exonic	SS18L1	.	nonsynonymous SNV	SS18L1:NM_198935:exon6:c.G614A:p.S205N,SS18L1:NM_001301778:exon7:c.G221A:p.S74N	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0161055889078	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774237530	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.48	0.17857	T	0.651	0.40707	P	0.212	0.37394	B	0.000013	0.62929	D	0.181068	0.959805	0.26172	N	1.155	0.29575	L	1.47	0.31987	T	-0.83	0.22727	N	0.372	0.46274	-0.9609	0.39012	T	0.080	0.31765	T	10	0.27515107	0.45071	T	0.016106	0.37202	T	0.123	0.34020	0.191	0.10171	0.171220215726	0.16700	0.38990407730860444	0.38905	0.369277446004	0.38454	0.485124528408	0.36763	T	0.076405	0.35411	T	-0.202838	0.20395	T	-0.529139	0.19371	T	0.876802861690521	0.52669	D	0.862314	0.55722	D	0.2063885	0.42812	0.1822744	0.41144	0.2063885	0.42812	0.1822744	0.41143	-5.827	0.44809	T	.	.	0.123	0.33710	B	.;.	.;.	2.747391	0.36003	20.1	0.99322152752319548	0.59431	0.90717	0.52128	D	AEFDGBCI	0.507842	0.53797	D	0.291497723096936	0.55716	3.735792	0.351321767203974	0.58589	4.030154	0.999904318058718	0.45458	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.31	0.50718	5.216000	0.65079	5.621000	0.49085	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.2555:0.7445:0.0	14.864	0.70035	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	.	.	.	.	.	.	.	.	0.05	573.43	39	chr20	62163515	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.903;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.202;SOR=0.782	GT:AD:DP:GQ:PL	0/1:47,27:74:99:585,0,1092	9	0	1	0
chr20	62310503	62310503	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10516T:p.R3506W	.	403	1106	12	1	0	14	0.00628931	.	.	.	2374032	LAMA5-related_disorder|Inborn_genetic_diseases	.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0334919233534	.	0.000199681	0.0002	0	0.0004	0	0	8.495e-05	0.0027	0.0006	0.0001552	24	154602	rs533441062	0.0001	0.0001	8.866e-05	0.0001	0.0026	9.041e-05	8.509e-05	0.0015	0.0012	0	0.0005	0	0	0	0.0026	4.849e-05	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0004	7.214e-05	0	0.0009	0	0	0	0	0.0002	0	0.0008	0.066	0.36113	T	0.024	0.56640	D	0.997	0.70673	D	0.446	0.45959	B	0.541681	0.05317	N	1.250980	1	0.08975	N	2.175	0.60977	M	2.05	0.20664	T	-3.05	0.62976	D	0.411	0.45142	-0.9942	0.31512	T	0.058	0.24354	T	10	0.054679066	0.05860	T	0.033492	0.55016	D	0.056	0.15993	0.467	0.53891	0.338449385132	0.33456	0.42126804897189174	0.42042	.	.	0.339464694262	0.16358	T	0.19636	0.55272	T	-0.429112	0.01500	T	-0.500133	0.22333	T	0.0754072055996979	0.09389	T	0.829117	0.49388	T	0.074384496	0.16690	0.08253064	0.18843	0.074384496	0.16690	0.08253064	0.18843	-7.055	0.54435	T	.	.	0.120	0.24800	B	.	.	3.040309	0.40753	21.2	0.99788791021676959	0.87484	0.09359	0.15131	N	AEFDBHCI	0.208683	0.33474	N	-0.248642568077362	0.31158	1.744319	-0.368894836170995	0.25930	1.42906	0.99987059709518	0.44625	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	1.82	0.24209	0.263000	0.18247	2.630000	0.33687	0.674000	0.70861	0.000000	0.06391	0.118000	0.22871	0.558000	0.30364	0.0:0.1343:0.4514:0.4143	9.121	0.35950	779	0.47767	Laminin G 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	0.001515	0.000000	0.002725	0.003012	0.000000	0.000000	0.000000	0.003788	0.05	688.43	56	chr20	62310503	.	G	A	688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.308;DP=405;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.318;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,32:61:99:700,0,666	9	0	1	0
chr20	62813521	62813521	G	A	exonic	OGFR	.	nonsynonymous SNV	OGFR:NM_007346:exon7:c.G1906A:p.E636K	.	432	1069	12	1	8	22	0.00650558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0147520925492	0.0002	0.00119808	4.467e-05	0	0	0	0	0	0	0.0003	6.47e-05	10	154602	rs141833389	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0016	0.0015	0	0.0003	0.0002	0	0	0.0020	0.0001	0.0004	0.0018	0.0003	0.0003	0.0003	0.0004	0.0029	0.0003	0.0002	0.0017	0.0014	2.727e-05	0	0.0006	0.0003	0.0004	0	0	0.0003	0	0.0029	0.0	0.91255	D	0.189	0.32891	T	0.989	0.62824	D	0.414	0.44907	B	.	.	.	.	0.996031	0.42982	D	-0.345	0.03330	N	0.64	0.52867	T	-0.13	0.08971	N	0.092	0.07125	-1.0379	0.17954	T	0.078	0.31012	T	9	0.0072395504	0.00165	T	0.014752	0.35069	T	0.099	0.28413	.	.	0.358340041657	0.35441	0.09033494268068554	0.08966	0.315436995491	0.33822	0.431010186672	0.29347	T	0.006432	0.16810	T	-0.445358	0.01203	T	-0.507588	0.21563	T	0.024594210880279	0.01220	T	0.453055	0.24459	T	0.12535243	0.29388	0.11353322	0.27401	0.12535243	0.29388	0.11353322	0.27400	-8.138	0.62006	D	.	.	0.088	0.25331	B	.;.;.	.;.;.	0.615660	0.09840	6.604	0.97695159505586548	0.35400	0.01551	0.05084	N	AEFBCI	0.041147	0.06216	N	-0.800597508825749	0.13295	0.6539392	-1.01476887837731	0.09460	0.4707727	0.840834699098481	0.24864	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	1.45	0.151	0.14183	-0.146000	0.10233	-0.060000	0.12436	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.174:0.0:0.826:0.0	7.297	0.25573	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006104	0.000000	0.002725	0.002976	0.000000	0.008772	0.006250	0.011538	0.05	847.43	37	chr20	62813521	.	G	A	847.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=418;ExcessHet=0;FS=6.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.64;MQRankSum=-0.506;QD=12.65;ReadPosRankSum=1.86;SOR=1.488	GT:AD:DP:GQ:PL	0/1:32,35:67:99:859,0,644	9	0	1	0
chr20	64098464	64098464	C	T	exonic	OPRL1	.	nonsynonymous SNV	OPRL1:NM_001318854:exon3:c.C763T:p.R255C,OPRL1:NM_001318855:exon3:c.C691T:p.R231C,OPRL1:NM_000913:exon4:c.C778T:p.R260C,OPRL1:NM_182647:exon5:c.C778T:p.R260C,OPRL1:NM_001200019:exon6:c.C778T:p.R260C	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.234719722198	.	.	2.498e-05	0	0.0002	0	0	1.524e-05	0	0	1.94e-05	3	154602	rs760977529	1.3e-05	1.3e-05	1.226e-05	1.376e-05	0.0002	8.32e-06	6.7e-06	8.35e-06	5.03e-06	0	4.472e-05	0	5.038e-05	0	0.0002	1.169e-05	0	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	0.9	0.45248	T	-6.38	0.91100	D	0.792	0.78927	0.113	0.84402	D	0.406	0.75550	T	10	0.88268244	0.87584	D	0.23472	0.88423	D	0.556	0.81717	0.588	0.71623	0.732983785101	0.73060	0.7639484260437474	0.76342	1.72559754066	0.90647	0.831435918808	0.86782	D	0.724651	0.92245	D	0.114476	0.65813	D	0.102507	0.77075	D	0.99365907907486	0.84541	D	0.99516	0.98354	D	0.73064345	0.79760	0.45076546	0.68040	0.73064345	0.79761	0.45076546	0.68040	-10.285	0.75600	D	.	.	0.690	0.72561	P	.;.;.	.;.;.	4.848068	0.79215	27.1	0.99929505253814566	0.99279	0.97027	0.72267	D	AEFGBI	0.759799	0.69802	D	0.905448811775916	0.92023	11.19185	0.771000155418814	0.87717	9.319009	0.999901213991562	0.45458	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.75	4.75	0.59954	5.887000	0.69494	7.667000	0.64568	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.197000	0.21808	0.1632:0.8367:0.0:0.0	12.843	0.57200	.	.	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1904.43	42	chr20	64098464	.	C	T	1904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.253;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.664;SOR=0.711	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1916,0,1525	9	0	1	0
chr21	10598093	10598093	C	T	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon16:c.C941T:p.S314L,TPTE:NM_199260:exon19:c.C1241T:p.S414L,TPTE:NM_199259:exon20:c.C1301T:p.S434L,TPTE:NM_199261:exon21:c.C1355T:p.S452L	.	424	1070	27	1	0	29	0.0133702	0.0004	0.332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147105244	0.0007	0.0018	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0	0.0004	0.0013	7.568e-05	5.619e-05	0.0033	0.0003	0.0008	0.0076	0.0006	0.0013	0.0005	0.0007	0.0080	0.0005	0.0005	0.0060	0.0053	4.809e-05	0	0.0002	0.0012	0.0004	0	0	0.0006	0.0014	0.0080	.	.	.	0.272	0.27503	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.19593	.	.	.	.	.	.	.	0.014126092	0.00298	T	.	.	.	.	.	.	.	.	.	0.7574105861191883	0.75689	.	.	.	.	.	0.256782	0.62774	T	.	.	.	.	.	.	.	.	.	0.650435	0.26116	T	.	.	.	.	.	.	.	.	-4.445	0.31767	T	.	.	0.082	0.11558	B	.;.;.;.	.;.;.;.	-0.601585	0.01567	0.104	.	.	.	.	.	.	0.019152	0.00640	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.468000	0.02456	-6.787000	0.01306	-1.838000	0.00583	0.010000	0.18352	0.000000	0.08366	0.011000	0.09372	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	339.43	39	chr21	10598093	.	C	T	339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=0.46;QD=2.07;ReadPosRankSum=-0.439;SOR=0.671	GT:AD:DP:GQ:PL	0/1:137,27:164:99:351,0,3458	9	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	1/1:0,216:216:99:6616,648,0	1	4	5	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	1/1:0,138:138:99:4164,414,0	1	4	5	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3455.14	34	chr21	13615163	.	G	A	3455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.399;DP=605;ExcessHet=0.2348;FS=0.848;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=49.27;MQRankSum=0.479;QD=10.9;ReadPosRankSum=-0.23;SOR=0.642	GT:AD:DP:GQ:PL	0/1:80,85:165:99:2056,0,1934	8	0	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,97:97:99:2922,291,0	1	5	4	0
chr21	14643004	14643004	C	T	exonic	LOC388813	.	nonsynonymous SNV	LOC388813:NM_001256579:exon1:c.G70A:p.V24M	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00175089071758	.	0.00279553	0.0036	0.0033	0	0	0.0012	0.0062	0	0.0027	0.0017335	268	154602	rs149223740	0.0066	0.0059	0.0067	0.0065	0.0090	0.0064	0.0063	0.0087	0.0086	0.0030	0.0058	0.0030	0.0002	0.0019	0.0079	0.0090	0.0075	0.0032	0.0063	0.0063	0.0065	0.0061	0.0095	0.0060	0.0058	0.0089	0.0087	0.0035	0	0.0071	0.0020	0.0004	0.0013	0.0136	0.0095	0.0066	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0206	0.23519	T	0.025	0.10509	T	6	0.008035332	0.00182	T	0.001751	0.02960	T	.	.	.	.	.	.	.	.	.	.	0.215360105038	0.01059	T	.	.	.	-0.646999	0.00075	T	-0.692751	0.06231	T	0.00160834843911263	0.00016	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16626	B	.	.	-0.340433	0.02445	0.279	0.29110385859559285	0.01528	0.00345	0.01785	N	AEFBI	0.027808	0.02338	N	-0.806131300588514	0.13153	0.6459952	-0.98692861124557	0.10078	0.505361	4.82889593819539E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	-3.21	0.04823	-0.877000	0.04305	-3.100000	0.03061	-1.738000	0.00705	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.151:0.4624:0.0:0.3867	5.757	0.17447	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	.	.	.	.	.	.	.	.	0.05	393.43	34	chr21	14643004	.	C	T	393.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.886;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.2;SOR=0.603	GT:AD:DP:GQ:PL	0/1:32,21:53:99:405,0,748	9	0	1	0
chr21	26838216	26838216	C	T	exonic	ADAMTS1	.	nonsynonymous SNV	ADAMTS1:NM_006988:exon9:c.G2267A:p.R756Q	.	422	1087	13	0	0	13	0.00594422	.	.	.	705638	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.312	0.0291091008039	0.0042	0.00119808	0.0031	0.0011	0.0012	0	0.0005	0.0034	0.0044	0.0070	0.0030207	467	154602	rs139455257	0.0041	0.0041	0.0040	0.0042	0.0069	0.0040	0.0040	0.0064	0.0062	0.0010	0.0012	0.0002	2.519e-05	0.0002	0.0028	0.0045	0.0039	0.0069	0.0024	0.0024	0.0026	0.0023	0.0056	0.0022	0.0021	0.0040	0.0034	0.0010	0	0.0014	0.0003	0	0.0002	0.0034	0.0040	0.0014	0.0056	0.158	0.23905	T	0.088	0.40586	T	0.801	0.45051	P	0.487	0.47260	P	.	.	.	.	1	0.81001	D	2.095	0.58118	M	0.72	0.50976	T	-2.61	0.56144	D	0.647	0.65844	-1.0438	0.16177	T	0.117	0.41231	T	9	0.010748833	0.00238	T	0.029109	0.51676	D	0.312	0.63375	.	.	0.928679246179	0.92795	0.7245277106677015	0.72396	0.972859814527	0.73445	0.513216793537	0.40671	T	0.198505	0.55551	T	-0.0848249	0.38927	T	0.108825	0.77494	D	0.0514258731636441	0.05748	T	0.887811	0.61653	D	0.1266369	0.29655	0.15958975	0.37212	0.1266369	0.29655	0.15958975	0.37211	-7.421	0.57052	T	.	.	0.157	0.34645	B	.	.	4.924088	0.81125	27.5	0.99954715456572385	0.99969	0.96197	0.67980	D	AEFGBHCI	0.916561	0.88293	D	0.493642975419749	0.66716	4.986438	0.580926636614329	0.73573	5.992638	1.0	0.98316	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.568000	0.81546	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	19.914	0.97044	834	0.38640	ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.003788	0.05	815.43	34	chr21	26838216	.	C	T	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=380;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.875;SOR=0.631	GT:AD:DP:GQ:PL	0/1:28,35:63:99:827,0,654	9	0	1	0
chr21	30613897	30613897	C	T	exonic	KRTAP6-1	.	nonsynonymous SNV	KRTAP6-1:NM_181602:exon1:c.G8A:p.G3D	.	.	.	.	.	.	.	.	.	.	.	4156154	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0189204305692	.	0.000199681	9.067e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs527457966	3.831e-05	3.831e-05	2.45e-05	5.225e-05	0.0005	3.025e-05	2.719e-05	0.0004	0.0004	0	0	0	0	0	0	0	0.0001	0.0005	4.596e-05	4.594e-05	3.854e-05	5.372e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	0.024	0.56640	D	0.004	0.12183	B	0.011	0.15521	B	0.251838	0.15493	U	0.483859	0.999671	0.20721	N	.	.	.	1.46	0.32238	T	-6.75	0.92692	D	0.337	0.37820	-1.0209	0.23421	T	0.058	0.24354	T	9	0.022904575	0.00584	T	0.01892	0.41136	T	0.112	0.31546	0.127	0.03251	0.195762928549	0.19159	0.047844842746216386	0.04727	0.18329890864	0.20616	.	.	.	0.08128	0.36559	T	-0.440711	0.01281	T	-0.499742	0.22374	T	0.0624964587059831	0.07556	T	0.367163	0.08573	T	0.6390804	0.74782	0.5801334	0.75664	0.6390804	0.74783	0.5801334	0.75665	-7.041	0.54332	T	.	.	0.424	0.60884	A	.	.	3.347642	0.46161	22.3	0.9293642945531253	0.22504	0.70455	0.34597	D	AEFBI	0.071182	0.14161	N	-0.240359810034576	0.31489	1.766245	-0.138437120263132	0.33856	1.941131	4.48301353246486E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	2.79	0.31792	0.750000	0.25999	1.258000	0.25213	0.589000	0.31548	0.952000	0.33172	0.001000	0.17328	0.939000	0.47918	0.0:0.7984:0.0:0.2016	8.760	0.33829	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	.	.	.	.	.	.	.	.	0.05	1249.43	33	chr21	30613897	.	C	T	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.171;DP=449;ExcessHet=0;FS=2.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.171;SOR=0.977	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1261,0,1443	9	0	1	0
chr21	33524824	33524824	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon11:c.G1243A:p.A415T,GART:NM_001136005:exon11:c.G1243A:p.A415T,GART:NM_001136006:exon11:c.G1243A:p.A415T,GART:NM_175085:exon11:c.G1243A:p.A415T	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0544425870304	0.0002	0.00119808	0.0002	0.0009	0.0003	0	0	2.997e-05	0	0.0004	0.0001746	27	154602	rs148363571	8.345e-05	8.345e-05	5.989e-05	0.0001	0.0006	7.136e-05	6.684e-05	0.0004	0.0004	0.0006	0.0001	0.0002	0	0	0.0003	5.126e-05	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.712e-05	0.0002	0.0002	0.0003	0	0.0002	0	0	0	0	5.88e-05	0	0.0004	0.037	0.43085	D	0.045	0.49390	D	0.982	0.60036	D	0.89	0.63157	P	0.000004	0.62929	D	0.139432	0.999995	0.58761	D	3.09	0.87444	M	0.95	0.43279	T	-2.85	0.60029	D	0.605	0.62273	-0.3460	0.73669	T	0.245	0.61412	T	10	0.060266852	0.07376	T	0.054443	0.65859	D	0.189	0.46613	.	.	0.710170224331	0.70764	0.9191495130300564	0.91890	0.497233381256	0.48218	0.389250665903	0.23564	T	0.303184	0.67555	T	-0.212753	0.18994	T	-0.200651	0.54585	T	0.255277395248413	0.23108	T	0.989645	0.96613	D	0.9070178	0.92018	0.64263934	0.79116	0.9070178	0.92019	0.64263934	0.79117	-7.64	0.58589	D	.	.	0.105	0.27613	B	.;.;.;.	.;.;.;.	4.439403	0.68917	25.3	0.9993264388546651	0.99439	0.93447	0.58241	D	AEFGBCI	0.572086	0.57581	D	0.711158570239974	0.80365	7.277985	0.652726950825859	0.78815	6.952593	0.999866711936813	0.44398	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.03	5.14	0.70008	4.522000	0.60254	5.904000	0.50927	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2502:0.7498:0.0:0.0	15.573	0.76096	933	0.16026	Phosphoribosylglycinamide synthetase, C-domain|Phosphoribosylglycinamide synthetase, C-domain;Phosphoribosylglycinamide synthetase, C-domain|Phosphoribosylglycinamide synthetase, C-domain;Phosphoribosylglycinamide synthetase, C-domain|Phosphoribosylglycinamide synthetase, C-domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1174.43	33	chr21	33524824	.	C	T	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.906;DP=487;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.12;SOR=0.823	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1186,0,1332	9	0	1	0
chr21	34449523	34449523	T	0	exonic	KCNE1	.	.	.	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	406	907	114	84	11	293	0.134542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	578.65	19	chr21	34449523	.	T	*	578.65	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=38.22;MQRankSum=-1.178;QD=3.38;ReadPosRankSum=-1.652;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,18:22:4:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:432,124,166:34449516	4	0	6	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	749.38	81	chr21	41918930	.	C	G	749.38	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.894;DP=915;ExcessHet=4.5998;FS=112.686;InbreedingCoeff=-0.5212;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.12;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,7:68:61:0|1:41918930_C_G:61,0,2324:41918930	2	0	6	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	740.79	81	chr21	41918931	.	C	G	740.79	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.421;DP=897;ExcessHet=2.8389;FS=112.686;InbreedingCoeff=-0.4718;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.926;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,7:68:61:0|1:41918930_C_G:61,0,2324:41918930	4	0	5	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	759.41	80	chr21	41918933	.	C	G	759.41	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.116;DP=836;ExcessHet=2.8389;FS=113.692;InbreedingCoeff=-0.4246;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.05;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:64:0|1:41918930_C_G:64,0,2302:41918930	5	0	5	0
chr21	45987511	45987511	G	A	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon7:c.G751A:p.E251K	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	267479	Collagen_6-related_myopathy|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.680	0.408327497389	0.0002	.	0.0002	0	0	0	0	0.0001	0.0011	0.0009	0.0001488	23	154602	rs145849970	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	2.987e-05	2.236e-05	3.826e-05	2.519e-05	1.913e-05	0	0.0002	0.0004	0.0012	0.0001	0.0001	7.709e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	4.812e-05	0	0	0	0	0	0	0.0001	0	0.0008	0.258	0.16683	T	0.365	0.16914	T	0.999	0.77913	D	0.881	0.62579	P	0.000974	0.40836	D	0.205855	0.99999	0.58761	D	1.7	0.43825	L	-3.37	0.94114	D	-1.79	0.42191	N	0.277	0.31365	0.385	0.88875	D	0.764	0.91956	D	10	0.0976879	0.17611	T	0.408327	0.93544	D	0.680	0.88252	.	.	0.832155817886	0.83056	0.838032652940489	0.83763	0.249061306982	0.27473	0.833469033241	0.87094	D	0.285671	0.65846	T	-0.0426737	0.45550	T	0.115485	0.77935	D	0.137223465590137	0.16033	T	0.89841	0.64469	D	0.22036013	0.44589	0.20740528	0.44998	0.22036013	0.44589	0.20740528	0.44997	-11.471	0.82178	D	0.3804871426567475	0.47497	0.718	0.73696	P	.;.	.;.	5.632094	0.92682	32	0.99906842677596708	0.97726	0.95019	0.63143	D	AEFDBI	0.708223	0.66270	D	0.153172536834939	0.48963	3.102089	0.130464701340641	0.46115	2.862826	0.999999999975603	0.74766	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	3.425000	0.52535	11.269000	0.91340	0.618000	0.50648	0.995000	0.38783	1.000000	0.68203	0.763000	0.36255	0.0:0.0:1.0:0.0	16.067	0.80699	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	309.43	34	chr21	45987511	.	G	A	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=379;ExcessHet=0;FS=2.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=0.24;SOR=1.296	GT:AD:DP:GQ:PL	0/1:32,15:47:99:321,0,681	9	0	1	0
chr21	46416316	46416316	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon30:c.C6044T:p.T2015I,PCNT:NM_006031:exon30:c.C6398T:p.T2133I	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00175282429645	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs747029002	7.526e-06	7.525e-06	4.084e-06	1.1e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	2.99e-05	0	0	0	0	0.0003	3.597e-06	0	4.639e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.077	0.42436	T	0.054	0.22658	B	0.015	0.17295	B	0.208980	0.16412	N	0.451006	1	0.08975	N	0.69	0.16971	N	4.83	0.01493	T	-0.3	0.11913	N	0.135	0.13198	-0.9108	0.46756	T	0.004	0.01192	T	10	0.060669154	0.07487	T	0.001753	0.02960	T	0.029	0.06676	0.303	0.27164	0.234412748748	0.23057	0.06646310231716109	0.06584	0.0901202381982	0.10162	0.282076597214	0.07784	T	0.029296	0.21023	T	-0.402176	0.02241	T	-0.751828	0.03415	T	0.0298921390949175	0.01973	T	0.370863	0.08760	T	0.022501264	0.00918	0.023585005	0.00371	0.022501264	0.00917	0.023585005	0.00371	-6.516	0.50410	T	.	.	0.113	0.22464	B	.	.	0.002619	0.04302	1.082	0.9066221714022541	0.19914	0.04530	0.10162	N	AEFDBCI	0.022916	0.01206	N	-1.18378882082529	0.05245	0.2386384	-1.2237560884999	0.05530	0.2637454	0.213893834849491	0.18273	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.34	-0.299	0.12173	-0.072000	0.11446	-0.251000	0.10506	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.344:0.2175:0.2493:0.1892	0.306	0.00260	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4989.43	35	chr21	46416316	.	C	T	4989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.603;DP=1174;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.363;SOR=0.666	GT:AD:DP:GQ:PL	0/1:237,202:439:99:5001,0,6462	9	0	1	0
chr22	18607138	18607138	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G4297A:p.A1433T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00321510054802	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389368890	4.305e-05	5.775e-05	4.472e-05	4.134e-05	0.0003	3.391e-05	3.104e-05	0.0001	9.711e-05	3.336e-05	0.0003	0	2.781e-05	0.0001	0.0002	2.843e-05	5.276e-05	8.956e-05	5.393e-05	6.753e-05	2.975e-05	7.993e-05	7.864e-05	2.438e-05	1.738e-05	1.294e-05	6.59e-06	6.171e-05	0	7.864e-05	0	0	0.0001	0	4.876e-05	0	0	.	.	.	0.203	0.27325	T	.	.	.	.	.	.	0.302050	0.03961	N	1.510760	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	0.022	0.00372	-1.0012	0.29574	T	0.029	0.12234	T	10	0.022256345	0.00551	T	0.003215	0.07057	T	.	.	.	.	0.0297737177859	0.01360	0.19249087248950256	0.19167	.	.	0.343607842922	0.16976	T	0.00235	0.01749	T	-0.59188	0.00163	T	-0.775592	0.02589	T	0.0269799418747425	0.01542	T	0.464953	0.13579	T	0.016749132	0.00219	0.03692622	0.03239	0.016749132	0.00219	0.03692622	0.03238	-3.538	0.16968	T	.	.	0.079	0.07083	B	.	.	0.295992	0.06720	3.229	0.89430226685874015	0.18790	0.00141	0.00861	N	AEFI	0.017714	0.00484	N	-1.1963147721946	0.05056	0.229593	-1.22891391192758	0.05451	0.2597388	1.61461239895288E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.58	1.42	0.21524	-0.485000	0.06601	0.412000	0.18122	-0.718000	0.03832	0.000000	0.06391	0.003000	0.18671	0.022000	0.11911	0.0:0.2807:0.0:0.7193	4.745	0.12409	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	33.43	37	chr22	18607138	.	C	T	33.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=361;ExcessHet=0;FS=1.739;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.37;MQRankSum=-0.968;QD=0.52;ReadPosRankSum=0.751;SOR=1.322	GT:AD:DP:GQ:PL	0/1:56,8:64:45:45,0,1451	9	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	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	0/1:86,90:176:99:1999,0,2002	3	5	2	0
chr22	21001287	21001287	C	G	exonic	THAP7	.	nonsynonymous SNV	THAP7:NM_030573:exon2:c.G205C:p.E69Q,THAP7:NM_001008695:exon3:c.G205C:p.E69Q	.	413	1080	28	1	0	30	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	.	0.0029	0.00359425	0.0042	0.0008	0.0022	0.0001	0.0005	0.0044	0.0022	0.0103	0.0038292	592	154602	rs145388226	0.0037	0.0037	0.0033	0.0041	0.0153	0.0036	0.0036	0.0127	0.0117	0.0004	0.0021	0.0052	0	0.0004	0.0153	0.0035	0.0050	0.0107	0.0029	0.0029	0.0030	0.0029	0.0100	0.0027	0.0026	0.0077	0.0069	0.0005	0	0.0036	0.0066	0	0.0003	0.0170	0.0042	0.0019	0.0100	0.071	0.35165	T	0.065	0.44702	T	0.999	0.77913	D	0.959	0.70163	D	0.005322	0.32892	N	0.207655	0.984501	0.40154	D	1.86	0.49225	L	-4.04	0.96465	D	-1.0	0.26422	N	0.51	0.54147	0.868	0.95255	D	0.878	0.95945	D	10	0.011849105	0.00257	T	.	.	.	0.495	0.78036	.	.	0.928443736517	0.92771	0.5106856479628384	0.50990	1.04383462817	0.75888	0.704212069511	0.67754	T	0.470217	0.80343	T	-0.0868601	0.38593	T	0.11185	0.77694	D	0.0140772103541453	0.00273	T	0.733327	0.34901	T	0.17945296	0.39017	0.0818451	0.18634	0.17945296	0.39017	0.0818451	0.18634	-6.156	0.47566	T	.	.	0.173	0.39630	B	.;.	.;.	4.919085	0.81005	27.4	0.99763001721582423	0.85254	0.82732	0.41920	D	AEFDGBHCI	0.284901	0.39765	N	0.501033597613452	0.67151	5.043596	0.531477224639649	0.70120	5.45857	0.999999999999998	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	5.32	5.32	0.75377	2.065000	0.41068	7.533000	0.59948	0.599000	0.40250	0.928000	0.32210	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.538	0.84226	851	0.35303	THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger;THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	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	0.005040	0.000000	0.002717	0.005848	0.000000	0.008621	0.021472	0.003788	0.05	912.43	33	chr22	21001287	.	C	G	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=1.5;SOR=0.722	GT:AD:DP:GQ:PL	0/1:55,43:98:99:924,0,1184	9	0	1	0
chr22	21960392	21960392	G	A	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon14:c.C1583T:p.T528M,TOP3B:NM_001282113:exon14:c.C1583T:p.T528M,TOP3B:NM_003935:exon14:c.C1583T:p.T528M,TOP3B:NM_001349845:exon15:c.C1583T:p.T528M,TOP3B:NM_001349847:exon15:c.C1583T:p.T528M,TOP3B:NM_001349848:exon15:c.C1175T:p.T392M,TOP3B:NM_001349851:exon15:c.C1175T:p.T392M,TOP3B:NM_001349850:exon16:c.C1175T:p.T392M,TOP3B:NM_001349852:exon16:c.C1175T:p.T392M	.	415	1097	10	0	0	10	0.00453721	.	.	.	3219483	TOP3B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0425010395945	7.7e-05	0.000599042	0.0003	9.679e-05	8.67e-05	0.0003	0	4.531e-05	0	0.0018	0.0002717	42	154602	rs147509770	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0020	0.0019	8.962e-05	8.945e-05	0	7.557e-05	0	0.0005	5.306e-05	0.0001	0.0022	0.0001	0.0001	0.0001	0.0001	0.0025	8.165e-05	6.722e-05	0.0014	0.0011	2.406e-05	0	0	0	0.0002	0	0	7.353e-05	0	0.0025	0.03	0.45393	D	0.072	0.43344	T	0.991	0.64070	D	0.867	0.61644	P	0.001143	0.40056	N	0.302936	0.999846	0.81001	D	2.36	0.67893	M	1.89	0.23688	T	-3.07	0.63207	D	0.473	0.50868	-0.9014	0.47846	T	0.142	0.46294	T	10	0.036013365	0.01877	T	0.042501	0.60499	D	0.226	0.52472	.	.	0.651897154517	0.64899	0.6038160417844033	0.60312	0.600032869069	0.55099	0.484015822411	0.36609	T	0.208799	0.56883	T	-0.394629	0.02510	T	-0.346109	0.39651	T	0.12212483032637	0.14636	T	0.985451	0.95004	D	0.18290748	0.39533	0.19713458	0.43479	0.18290748	0.39533	0.19713458	0.43478	-8.135	0.61986	D	.	.	0.069	0.02993	B	.;.	.;.	3.269241	0.44742	22.0	0.99770295086759542	0.85834	0.94587	0.61652	D	AEFBHCI	0.572043	0.57579	D	0.23492681432104	0.52897	3.461274	0.10889608198656	0.45001	2.771286	0.999999999993348	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.69	3.4	0.38031	6.419000	0.73253	.	.	0.669000	0.69127	1.000000	0.71638	0.986000	0.30841	0.083000	0.17415	0.0778:0.0:0.9222:0.0	15.258	0.73299	699	0.57969	DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central	.	.	.	.	.	Likely benign	0	0	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	989.43	34	chr22	21960392	.	G	A	989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.114;DP=436;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-2.408;SOR=0.842	GT:AD:DP:GQ:PL	0/1:67,48:115:99:1001,0,1604	9	0	1	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	13591.1	391	chr22	26027319	.	C	T	13591.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.33;DP=2835;ExcessHet=0.2348;FS=0.52;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.269;SOR=0.773	GT:AD:DP:GQ:PL	0/1:324,288:612:99:7029,0,7191	8	0	2	0
chr22	27221505	27221505	G	A	exonic	LINC01638	.	stopgain	LINC01638:NM_001350812:exon3:c.C325T:p.R109X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0039189	102	26028	rs373432568	0	0.0004	0	0	.	0	0	.	.	0	.	0	.	0	0	0	0	.	0.0029	0.0029	0.0032	0.0026	0.0050	0.0027	0.0026	0.0046	0.0044	0.0010	0	0.0012	0.0037	0	0.0009	0	0.0050	0.0019	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	65.31	5	chr22	27221505	.	G	A	65.31	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.036;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.842;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:62:75,0,62	8	0	1	1
chr22	29049788	29049788	G	A	exonic	ZNRF3	.	nonsynonymous SNV	ZNRF3:NM_001206998:exon8:c.G1607A:p.R536H,ZNRF3:NM_032173:exon8:c.G1307A:p.R436H	.	403	1114	4	1	0	6	0.00268577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.237002407516	.	0.00119808	0.0002	0.0001	0	0.0001	0	3.332e-05	0	0.0015	0.0002458	38	154602	rs535336653	0.0001	0.0001	7.937e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3e-05	0	0	5.059e-05	0	0.0003	1.356e-05	0.0003	0.0017	8.534e-05	8.53e-05	8.993e-05	8.055e-05	0.0019	4.953e-05	3.959e-05	0.0010	0.0007	4.81e-05	0	0	0	0	0	0	2.941e-05	0	0.0019	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.094804	1	0.81001	D	2.71	0.79292	M	-1.29	0.79475	T	-3.16	0.64246	D	0.756	0.75466	0.390	0.88949	D	0.662	0.88280	D	10	0.04617992	0.03778	T	0.237002	0.88524	D	0.527	0.80007	.	.	0.590544468772	0.58731	0.5038077736553115	0.50302	1.3380251993	0.83785	0.796861767769	0.81485	T	0.168746	0.51587	T	-0.0309096	0.47284	T	0.152745	0.80358	D	0.200743988799566	0.20456	T	0.929607	0.73996	D	0.605956	0.73011	0.46000928	0.68634	0.605956	0.73012	0.46000928	0.68635	-3.575	0.23038	T	.	.	0.077	0.17016	B	.;.;.	.;.;.	5.063782	0.84412	28.3	0.99948547792593212	0.99923	0.94399	0.61041	D	AEFDBHCI	0.834732	0.75274	D	0.784287673539401	0.85112	8.480324	0.75716432449942	0.86689	8.971154	0.999999999999944	0.74766	0.706548	0.73137	0	0.446627	0.06534	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.53	5.53	0.82530	7.550000	0.81121	9.877000	0.82171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.456	0.90669	522	0.74218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1014.43	34	chr22	29049788	.	G	A	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.38;DP=393;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.991;SOR=0.799	GT:AD:DP:GQ:PL	0/1:44,37:81:99:1026,0,1077	9	0	1	0
chr22	30264461	30264461	G	A	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.C118T:p.R40C,OSM:NM_020530:exon3:c.C181T:p.R61C	.	420	1099	2	1	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0147840155308	.	0.000599042	0.0005	0	0	0	0	1.645e-05	0	0.0045	0.0004334	67	154602	rs200818557	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	3.013e-05	2.266e-05	0	5.083e-05	0	0	1.998e-05	0.0004	0.0032	8.534e-05	8.529e-05	5.138e-05	0.0001	0.0023	4.953e-05	3.959e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0023	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.895	0.63489	P	0.023233	0.01588	N	2.507170	0.999999	0.08975	N	0.805	0.20218	L	0.66	0.52416	T	-5.58	0.86450	D	0.218	0.31253	-0.9647	0.38270	T	0.091	0.34901	T	10	0.014133632	0.00298	T	0.014784	0.35118	T	0.189	0.46613	0.753	0.88319	0.692355517538	0.68971	0.22521156646811497	0.22436	0.759215101539	0.64160	0.242099702358	0.02982	T	0.808837	0.95201	D	-0.380118	0.03111	T	-0.32058	0.42512	T	0.159890631516883	0.17864	T	0.830517	0.49623	T	0.3187266	0.54532	0.25054592	0.50647	0.3187266	0.54532	0.25054592	0.50646	-5.824	0.44783	T	.	.	0.252	0.48695	B	.;.	.;.	3.077179	0.41385	21.3	0.99804786413155533	0.88906	0.08837	0.14706	N	AEFDBCI	0.112233	0.22191	N	-0.557073973783821	0.20262	1.066874	-0.697375101596618	0.17025	0.9034543	0.999579913021674	0.40495	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.73	-0.0743	0.13065	0.316000	0.19217	2.765000	0.34631	0.676000	0.76740	0.000000	0.06391	0.146000	0.23136	0.332000	0.25247	0.0:0.0:0.3786:0.6214	9.039	0.35467	338	0.86082	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	452.43	38	chr22	30264461	.	G	A	452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.168;SOR=0.61	GT:AD:DP:GQ:PL	0/1:13,17:30:99:464,0,292	9	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.15	2119.45	34	chr22	31140088	.	A	T	2119.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.78;DP=516;ExcessHet=0.7463;FS=1.108;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.032;SOR=0.596	GT:AD:DP:GQ:PL	0/1:24,25:49:99:737,0,660	7	0	3	0
chr22	31712857	31712857	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.A4982G:p.D1661G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0721082512026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219810216	2.143e-06	2.052e-06	2.819e-06	1.449e-06	9.494e-05	5.7e-07	1.6e-07	2.515e-05	1.297e-05	9.494e-05	0	0	0	0	0	0	0	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	9.646e-05	8.14e-06	5.14e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.01	0.65728	D	0.703	0.41913	P	0.342	0.42471	B	0.000143	0.49130	D	0.000000	0.521837	0.31563	N	2.16	0.60381	M	2.69	0.12268	T	-4.49	0.78046	D	0.621	0.63628	-1.0358	0.18606	T	0.054	0.22770	T	9	0.56543154	0.65023	D	0.072108	0.71447	D	0.081	0.23632	0.25	0.18757	0.143184338766	0.13958	0.32299055199621746	0.32212	0.457463786155	0.45379	0.370160698891	0.20855	T	0.064648	0.32488	T	-0.272894	0.11436	T	-0.393101	0.34188	T	0.898087203502655	0.55011	D	0.70353	0.31362	T	0.48812267	0.66391	0.39988604	0.64540	0.48812267	0.66391	0.39988604	0.64540	-3.257	0.13189	T	.	.	0.253	0.48746	B	.	.	3.458289	0.48188	22.6	0.99753862357606127	0.84460	0.82990	0.42148	D	AEFBI	0.113219	0.22348	N	0.097710491064832	0.46355	2.877194	0.0874168666303178	0.43914	2.683415	0.151050272252107	0.17440	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	3.3	0.36912	2.723000	0.46947	3.531000	0.38953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.2311:0.0:0.7689	7.995	0.29424	154	0.93967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1605.43	33	chr22	31712857	.	T	C	1605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.06;SOR=0.687	GT:AD:DP:GQ:PL	0/1:68,60:128:99:1617,0,1843	9	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	37	chr22	36227655	.	C	A	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.975;DP=693;ExcessHet=0;FS=209.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=0.781;SOR=8.155	GT:AD:DP:GQ:PL	0/1:229,58:287:99:495,0,5917	9	0	1	0
chr22	37823563	37823563	C	G	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon1:c.C157G:p.P53A	.	409	1095	16	0	2	18	0.00725295	.	.	.	2822189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00372938010165	0.0044	0.000998403	0.0037	0.0016	0.0025	0	0	0.0047	0.0034	0.0053	0.0033699	521	154602	rs78650836	0.0054	0.0054	0.0054	0.0055	0.0061	0.0053	0.0053	0.0060	0.0059	0.0011	0.0020	0.0109	0	0.0003	0.0061	0.0061	0.0052	0.0047	0.0037	0.0037	0.0040	0.0032	0.0057	0.0034	0.0033	0.0052	0.0050	0.0016	0	0.0021	0.0104	0	0.0002	0.0136	0.0057	0.0028	0.0050	0.344	0.12552	T	0.762	0.04603	T	0.12	0.26678	B	0.023	0.19966	B	0.001413	0.39109	N	0.253805	0.985627	0.24693	N	0.91	0.23283	L	1.23	0.36872	T	-1.24	0.31375	N	0.264	0.29889	-1.0526	0.13682	T	0.031	0.13418	T	10	0.005166143	0.00112	T	0.003729	0.08651	T	0.079	0.23065	.	.	0.561065777782	0.55768	0.12042932136369706	0.11969	0.0635665618396	0.07079	0.426131874323	0.28679	T	0.034868	0.23493	T	-0.476906	0.00771	T	-0.45659	0.26971	T	0.00276266210519693	0.00029	T	0.459554	0.13284	T	0.050487977	0.09128	0.042460885	0.05062	0.050487977	0.09127	0.042460885	0.05062	-5.106	0.37971	T	.	.	0.069	0.03231	B	.	.	1.385777	0.17977	13.48	0.88235374183900261	0.17819	0.83030	0.42184	D	AEFDBI	0.195672	0.32270	N	-0.178552182088162	0.34029	1.937445	0.0200353589479204	0.40646	2.429099	0.999956360252973	0.48110	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	5.25	4.24	0.49486	1.413000	0.34333	2.949000	0.35703	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.094000	0.17991	0.2991:0.6141:0.0:0.0869	6.697	0.22394	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005450	0.000000	0.000000	0.000000	0.012195	0.015152	0.05	1489.43	37	chr22	37823563	.	C	G	1489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.513;DP=462;ExcessHet=0;FS=28.351;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=2.25;SOR=0.322	GT:AD:DP:GQ:PL	0/1:40,58:98:99:1501,0,965	9	0	1	0
chr22	39513721	39513721	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G790A:p.D264N,MIEF1:NM_019008:exon6:c.G790A:p.D264N	.	426	1081	15	0	0	15	0.00689022	.	.	.	3407988	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	.	.	.	.	.	.	.	.	0.342	.	0.0078	0.00199681	0.0062	0.0016	0.0016	0	0.0055	0.0093	0.0088	0.0033	0.0066235	1024	154602	rs2232091	0.0090	0.0090	0.0092	0.0088	0.0109	0.0089	0.0088	0.0107	0.0106	0.0013	0.0021	0.0007	2.519e-05	0.0049	0.0010	0.0109	0.0061	0.0038	0.0062	0.0062	0.0068	0.0056	0.0106	0.0058	0.0057	0.0100	0.0097	0.0017	0.0011	0.0041	0	0	0.0044	0	0.0106	0.0061	0.0046	0.127	0.27783	T	0.195	0.29639	T	0.722	0.42387	P	0.383	0.43945	B	0.000037	0.55875	D	0.195954	0.999756	0.48800	D	-0.11	0.04642	N	3.09	0.08371	T	-1.14	0.33998	N	0.314	0.35408	-1.1016	0.03903	T	0.022	0.09467	T	10	0.0066976547	0.00152	T	.	.	.	0.342	0.66392	.	.	0.505640481493	0.50201	0.26399582594437004	0.26312	0.396982738473	0.40801	0.562705039978	0.47649	T	0.016089	0.13370	T	-0.639447	0.00084	T	-0.679622	0.07007	T	0.0437599858947382	0.04377	T	0.711829	0.32527	T	0.1715629	0.37797	0.24830832	0.50379	0.1715629	0.37796	0.24830832	0.50378	-5.711	0.43791	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	4.298561	0.65610	24.9	0.99827324287167707	0.90939	0.99524	0.97054	D	AEFDBI	0.926441	0.90755	D	0.38966932153605	0.60862	4.27994	0.548490651309824	0.71293	5.632706	1.0	0.98316	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.992000	0.99232	7.577000	0.60860	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	20.644	0.99572	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2292.43	34	chr22	39513721	.	G	A	2292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.954;DP=518;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.252;SOR=0.667	GT:AD:DP:GQ:PL	0/1:101,90:191:99:2304,0,2740	9	0	1	0
chr22	40681891	40681891	C	T	exonic	MCHR1	.	nonsynonymous SNV	MCHR1:NM_005297:exon2:c.C1025T:p.T342M	.	418	1082	22	0	0	22	0.010064	.	.	.	2819570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.214	.	0.0031	0.00279553	0.0038	0.0028	0.0035	0.0002	0	0.0048	0.0159	0.0031	0.0035252	545	154602	rs149604804	0.0025	0.0025	0.0024	0.0027	0.0319	0.0024	0.0024	0.0281	0.0267	0.0032	0.0050	0.0388	7.557e-05	7.778e-05	0.0319	0.0014	0.0054	0.0029	0.0033	0.0033	0.0029	0.0038	0.0071	0.0031	0.0030	0.0060	0.0056	0.0020	0	0.0071	0.0375	0	0	0.0374	0.0021	0.0076	0.0019	0.046	0.42199	D	0.004	0.74150	D	0.44	0.35893	B	0.032	0.22131	B	0.023897	0.26361	N	0.408414	0.623305	0.32725	D	0.55	0.14455	N	-0.14	0.65006	T	-1.43	0.35194	N	0.101	0.26233	-0.9628	0.38645	T	0.084	0.32814	T	10	0.0035276115	0.00063	T	.	.	.	0.214	0.50650	.	.	0.754221005394	0.75199	0.43508045162272774	0.43425	0.13624951485	0.15368	0.481234312057	0.36227	T	0.119658	0.44134	T	-0.365716	0.03817	T	-0.297973	0.44937	T	0.00477826744732981	0.00051	T	0.855914	0.54393	D	0.02864106	0.02232	0.07494837	0.16448	0.02864106	0.02232	0.07494837	0.16447	-5.493	0.41803	T	.	.	0.083	0.11317	B	.;.	.;.	3.091181	0.41625	21.4	0.99813455680614382	0.89708	0.20435	0.21040	N	AEFDBI	0.130182	0.24864	N	-0.51816805231956	0.21493	1.141	-0.497936638140864	0.22211	1.205269	0.999998815703172	0.74766	0.614807	0.35715	0	0.547309	0.14657	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.02	4.0	0.45673	0.566000	0.23296	2.828000	0.35004	0.594000	0.32500	0.062000	0.21832	0.994000	0.32194	0.559000	0.30388	0.0:0.9036:0.0:0.0964	9.823	0.40062	225	0.91282	.;.	.	.	.	.	.	Likely benign	0	0	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	0.026687	0.015152	0.043478	0.032164	0.000000	0.008621	0.018293	0.011364	0.05	1574.43	34	chr22	40681891	.	C	T	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.327;SOR=0.705	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1586,0,1708	9	0	1	0
chr22	41177668	41177668	C	T	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon30:c.C5879T:p.P1960L,EP300:NM_001429:exon31:c.C5957T:p.P1986L	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	193837	not_provided|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder	MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.530	0.0651680743862	0.0002	0.000399361	0.0001	0.0002	0	0.0008	0	9.008e-05	0	6.057e-05	0.0001164	18	154602	rs144626200	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0015	0.0014	5.974e-05	2.236e-05	0	0.0019	0	0.0003	7.644e-05	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0009	0.0007	9.634e-05	0	0	0	0.0017	0	0	8.821e-05	0.0005	0.0002	0.002	0.72154	D	0.269	0.22426	T	0.707	0.42016	P	0.07	0.27859	B	0.000187	0.48115	D	0.000000	0.999981	0.54805	D	0	0.06538	N	-1.77	0.83660	D	-2.78	0.58896	D	0.241	0.27197	-0.3337	0.74026	T	0.377	0.73460	T	10	0.06782848	0.09507	T	0.065168	0.69499	D	0.530	0.80188	.	.	0.96811254239	0.96777	0.32907522848969234	0.32820	.	.	0.598594665527	0.52705	T	0.708065	0.91650	D	-0.0735545	0.40757	T	0.0264817	0.72048	D	0.101496444469703	0.12520	T	0.874113	0.58433	D	0.192003	0.40852	0.19229583	0.42735	0.192003	0.40852	0.19229583	0.42734	-4.389	0.29408	T	0.22479075339028512	0.30362	0.158	0.35034	B	.	.	3.895206	0.56705	23.8	0.99005125967742491	0.50231	0.95720	0.65868	D	AEFDBHCI	0.374337	0.45928	N	-0.0346021781631769	0.40293	2.390393	0.0396714604461606	0.41576	2.500083	0.999999999943203	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.32	5.32	0.75377	1.732000	0.37769	7.662000	0.64290	0.599000	0.40250	0.781000	0.29485	1.000000	0.68203	0.282000	0.24066	0.0:1.0:0.0:0.0	19.005	0.92823	255	0.89985	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1574.43	35	chr22	41177668	.	C	T	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=449;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.371;SOR=0.816	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1586,0,1547	9	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.15	1737.45	37	chr22	42128812	.	A	G	1737.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.4;DP=1007;ExcessHet=0.7463;FS=13.924;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.79;MQRankSum=-8.092;QD=2.38;ReadPosRankSum=-4.665;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,30:194:99:0|1:42128812_A_G:757,0,6787:42128812	7	0	3	0
chr22	43537405	43537406	CT	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon27:c.3563_3564del:p.Q1188Rfs*43,EFCAB6:NM_022785:exon29:c.4019_4020del:p.Q1340Rfs*43	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00559105	0.0070	0.0010	0.0026	0.0107	0.0136	0.0091	0.0088	0.0008	0.001191	31	26028	rs3833393	0.0060	0.0060	0.0058	0.0062	0.0101	0.0059	0.0059	0.0093	0.0090	0.0012	0.0033	0.0042	0.0101	0.0151	0.0050	0.0061	0.0057	0.0011	0.0067	0.0067	0.0064	0.0070	0.0147	0.0064	0.0062	0.0121	0.0111	0.0013	0.0110	0.0041	0.0055	0.0147	0.0151	0.0170	0.0090	0.0061	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007056	0.015152	0.009511	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1475.39	33	chr22	43537404	.	CCT	C	1475.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.005;DP=414;ExcessHet=0;FS=1.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.007;SOR=0.902	GT:AD:DP:GQ:PL	0/1:64,40:104:99:1487,0,2546	9	0	1	0
chr22	49804325	49804325	C	T	exonic	BRD1	.	nonsynonymous SNV	BRD1:NM_001349941:exon2:c.G1403A:p.R468Q,BRD1:NM_001304808:exon3:c.G1403A:p.R468Q,BRD1:NM_001304809:exon3:c.G1403A:p.R468Q,BRD1:NM_001349940:exon3:c.G1565A:p.R522Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0154400872994	.	.	1.66e-05	9.636e-05	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs761625739	7.553e-06	7.524e-06	6.826e-06	8.289e-06	4.536e-05	4.05e-06	2.96e-06	7.52e-06	2.81e-06	2.989e-05	4.536e-05	0	0	0	0	6.312e-06	1.66e-05	0	1.97e-05	1.97e-05	3.853e-05	0	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.51248	D	0.029	0.54541	D	0.998	0.73220	D	0.76	0.56425	P	0.000001	0.84330	D	0.053429	0.999928	0.51308	D	1.745	0.45235	L	2.59	0.15964	T	-2.23	0.50012	N	0.344	0.41557	-0.9682	0.37571	T	0.141	0.46091	T	10	0.33954617	0.51039	T	0.01544	0.36172	T	0.127	0.34888	0.483	0.56462	0.488820726603	0.48513	0.305498928296785	0.30462	1.97522762311	0.93589	0.670330047607	0.62885	T	0.183825	0.53630	T	-0.232942	0.16262	T	-0.390853	0.34450	T	0.80504035949707	0.46699	D	0.966803	0.88371	D	0.40259817	0.60912	0.25797743	0.51523	0.40259817	0.60912	0.25797743	0.51523	-11.292	0.81235	D	.	.	0.221	0.47172	B	.;.;.;.	.;.;.;.	5.355025	0.89820	31	0.99947796125352817	0.99923	0.90057	0.50941	D	AEFBI	0.304277	0.41202	N	0.41485716532334	0.62239	4.436571	0.481916284204249	0.66793	4.998455	0.999999996121008	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	5.935000	0.69862	7.544000	0.60141	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.390	0.90424	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1513.43	34	chr22	49804325	.	C	T	1513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.849;DP=441;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.38;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1525,0,1153	9	0	1	0
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	299.43	172	chrX	6533918	.	C	G	299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.874;DP=507;ExcessHet=0;FS=25.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.65;MQRankSum=-3.588;QD=21.39;ReadPosRankSum=-3.004;SOR=2.199	GT:AD:DP:GQ:PL	0/1:8,6:14:99:311,0,685	9	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,13:62:89:0|1:10469688_G_A:89,0,1508:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,13:62:89:0|1:10469688_G_A:89,0,1508:10469688	2	0	8	0
chrX	11298822	11298822	T	G	exonic	AMELX	.	nonsynonymous SNV	AMELX:NM_182681:exon4:c.T371G:p.M124R,AMELX:NM_001142:exon5:c.T419G:p.M140R,AMELX:NM_182680:exon6:c.T461G:p.M154R	Amelogenesis imperfecta, type 1E, X-linked dominant	.	.	.	.	.	.	.	.	.	.	3269141	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.388	0.0378976658795	.	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs753460403	4.19e-05	4.188e-05	3.539e-05	5.504e-05	0.0002	3.211e-05	2.872e-05	3.734e-05	3.31e-05	0	0	0	0	0	0.0002	4.988e-05	6.51e-05	0	2.718e-05	2.617e-05	2.575e-05	3.06e-05	5.686e-05	7.22e-06	3e-06	1.509e-05	8.18e-06	0	0	0	0	0	0	0	5.686e-05	0	0	0.054	0.38633	T	0.32	0.19131	T	0.036	0.27697	B	0.037	0.26930	B	0.243092	0.15669	N	0.644569	0.998842	0.45546	D	1.895	0.50365	L	-2.32	0.87830	D	-2.41	0.52938	N	0.544	0.58883	-0.2404	0.76616	T	0.570	0.84440	D	10	0.27935392	0.45508	T	0.037898	0.57897	D	0.388	0.70440	0.466	0.53729	0.970349058238	0.97003	0.2684882265780249	0.26761	0.341586652739	0.36092	0.425849348307	0.28641	T	0.889764	0.97751	D	-0.117331	0.33562	T	-0.19098	0.55499	T	0.0532661639168595	0.06064	T	0.778722	0.46599	T	0.7159908	0.78939	0.56142896	0.74623	0.7159908	0.78940	0.56142896	0.74624	-6.929	0.53580	T	.	.	0.289	0.52052	B	.;.;.	.;.;.	2.394557	0.30754	18.53	0.94630701022475383	0.25218	0.52396	0.29122	D	AEFBI	.	.	.	.	.	.	.	.	.	0.96075279939547	0.28509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	3.66	0.41111	2.180000	0.42167	3.103000	0.36327	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.986000	0.61781	0.0:0.0:0.1653:0.8347	10.208	0.42303	556	0.71678	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3100.12	34	chrX	11298822	.	T	G	3100.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.83;DP=448;ExcessHet=0;FS=3.443;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=32.63;ReadPosRankSum=0.419;SOR=0.571	GT:AD:DP:GQ:PL	1/1:1,94:95:99:3123,275,0	9	1	0	0
chrX	19006244	19006244	C	T	exonic	ADGRG2	.	nonsynonymous SNV	ADGRG2:NM_001184835:exon18:c.G1597A:p.V533I,ADGRG2:NM_001079860:exon19:c.G1645A:p.V549I,ADGRG2:NM_001184836:exon19:c.G1639A:p.V547I,ADGRG2:NM_001184837:exon19:c.G1621A:p.V541I,ADGRG2:NM_001079859:exon20:c.G1669A:p.V557I,ADGRG2:NM_001184833:exon20:c.G1663A:p.V555I,ADGRG2:NM_001079858:exon21:c.G1711A:p.V571I,ADGRG2:NM_001184834:exon21:c.G1711A:p.V571I,ADGRG2:NM_005756:exon21:c.G1702A:p.V568I	Vas deferens, congenital bilateral aplasia of, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.199608050538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.126e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.017	0.61642	D	0.982	0.62824	D	0.889	0.66722	P	0.018258	0.27526	N	0.253396	0.999999	0.58761	D	.	.	.	-0.69	0.72678	T	-0.93	0.25770	N	0.398	0.44474	0.291	0.87420	D	0.583	0.85026	D	10	0.5254202	0.62881	D	0.199608	0.86661	D	0.506	0.78724	0.629	0.76478	0.722859865974	0.72041	0.6416323352482324	0.64098	0.996152370031	0.74244	0.469520270824	0.34614	T	0.47716	0.80751	T	0.033539	0.56193	T	-0.1896	0.55628	T	0.945970356464386	0.62372	D	0.949505	0.93643	D	0.35900885	0.57760	0.37994355	0.63038	0.35900885	0.57761	0.37994355	0.63038	-10.458	0.77094	D	.	.	0.248	0.50835	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.404048	0.68072	25.2	0.99843338897045975	0.92316	0.94748	0.62194	D	AEFHCI	.	.	.	.	.	.	.	.	.	0.999999999961142	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	5.6	0.84997	7.312000	0.78274	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.707	0.91605	215	0.91651	.;.;.;.;.;.;GPS motif|GPS motif|GPS motif;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1920.12	34	chrX	19006244	.	C	T	1920.12	.	AC=2;AF=0.1;AN=20;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.09;SOR=1.112	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1943,198,0	9	1	0	0
chrX	32491292	32491292	C	G	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon20:c.G2583C:p.Q861H,DMD:NM_004006:exon20:c.G2607C:p.Q869H,DMD:NM_004009:exon20:c.G2595C:p.Q865H,DMD:NM_004010:exon20:c.G2238C:p.Q746H	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	100423	Duchenne_muscular_dystrophy|Cardiovascular_phenotype|not_provided|Becker_muscular_dystrophy|Dystrophin_deficiency|Cardiomyopathy	MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0610916565765	.	.	5.698e-05	0	0	0	0	8.335e-05	0	9.878e-05	7.12e-05	11	154602	rs398123898	4.007e-05	4.006e-05	2.586e-05	6.879e-05	0.0005	3.037e-05	2.705e-05	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	3.326e-05	0.0002	7.388e-05	4.452e-05	5.221e-05	5.14e-05	2.899e-05	9.385e-05	1.701e-05	1.045e-05	3.688e-05	2.388e-05	0	0	0	0	0	0	0	9.385e-05	0	0	0.165	0.23450	T	0.094	0.39799	T	0.005	0.12996	B	0.007	0.12992	B	0.003095	0.35449	U	0.000000	0.77123	0.34153	D	.	.	.	0.67	0.52187	T	-2.16	0.48850	N	0.377	0.42345	-1.0699	0.09436	T	0.080	0.31795	T	10	0.1790573	0.33021	T	0.061092	0.68219	D	0.061	0.17616	0.582	0.70861	0.602010829724	0.59883	0.4214835518902081	0.42064	0.0753087020864	0.08442	0.48566108942	0.36838	T	0.338063	0.70737	T	-0.377467	0.03232	T	-0.584347	0.14158	T	0.0524767003953457	0.05929	T	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47305	B	.;.;.;.	.;.;.;.	2.602255	0.33784	19.44	0.96243219841989613	0.29157	0.93708	0.58964	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0026877181337749	0.09631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	4.17	0.48303	1.400000	0.34186	2.646000	0.33784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1583:0.7581:0.0:0.0836	7.963	0.29240	645	0.63593	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.005263	0.1	1137.12	34	chrX	32491292	.	C	G	1137.12	.	AC=2;AF=0.1;AN=20;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.92;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1160,114,0	9	1	0	0
chrX	47206074	47206074	C	G	exonic	UBA1	.	nonsynonymous SNV	UBA1:NM_003334:exon15:c.C1702G:p.L568V,UBA1:NM_153280:exon15:c.C1702G:p.L568V	Spinal muscular atrophy, X-linked 2, infantile, X-linked recessive	0	1515	5	2	0	9	0.0029615	.	.	.	348774	not_provided|Infantile-onset_X-linked_spinal_muscular_atrophy|not_specified|VEXAS_syndrome|UBA1-related_disorder	MedGen:C3661900|MONDO:MONDO:0010532,MedGen:C1844934,OMIM:301830,Orphanet:1145|MedGen:CN169374|MONDO:MONDO:0026777,MedGen:C5435753,OMIM:301054,Orphanet:596753|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.387	.	0.0015	0.0121854	0.0107	0.0004	0.0002	0.0760	0.0467	0.0043	0.0199	0.0046	0.0065394	1011	154602	rs150574055	0.0035	0.0035	0.0035	0.0034	0.0632	0.0034	0.0033	0.0608	0.0598	7.61e-05	2.895e-05	0.0068	0.0632	0.0239	0.0007	0.0005	0.0047	0.0032	0.0041	0.0043	0.0037	0.0050	0.0553	0.0038	0.0036	0.0489	0.0465	0.0003	0	0.0002	0.0106	0.0553	0.0253	0	0.0009	0.0040	0.0042	0.001	0.78490	D	0.04	0.50809	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	0.999977	0.53665	D	1.825	0.47900	L	1.02	0.40749	T	-2.58	0.55662	D	0.23	0.25867	-0.9738	0.36387	T	0.086	0.33466	T	10	0.008150339	0.00185	T	.	.	.	0.387	0.70358	.	.	0.60981389998	0.60667	0.9420543238114985	0.94186	2.24202852939	0.96017	0.593292593956	0.51958	T	0.358144	0.72474	T	-0.305049	0.08192	T	-0.171481	0.57307	T	0.0309580145602591	0.02140	T	0.783222	0.41972	T	0.907926	0.92102	0.80922645	0.88851	0.93025076	0.94263	0.8394118	0.90800	-9.952	0.73624	D	.	.	0.124	0.26232	B	.;.	.;.	1.962893	0.24933	16.58	0.99711111975796818	0.81353	0.96297	0.68452	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999998742051088	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63	2.38	0.28415	2.094000	0.41344	0.014000	0.13486	0.594000	0.32500	0.967000	0.34061	0.001000	0.17328	0.899000	0.43558	0.0:0.7544:0.0:0.2456	8.296	0.31147	471	0.78036	THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Likely benign	0	0	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	0.001380	0.000000	0.001855	0.000000	0.000000	0.000000	0.004464	0.000000	0.1	3681.12	39	chrX	47206074	.	C	G	3681.12	.	AC=2;AF=0.1;AN=20;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.54;SOR=0.74	GT:AD:DP:GQ:PL	1/1:0,129:129:99:3704,387,0	9	1	0	0
chrX	49305467	49305467	C	T	exonic	GAGE10	.	nonsynonymous SNV	GAGE10:NM_001098413:exon3:c.C145T:p.R49C	.	.	.	.	.	.	.	.	.	.	.	3439635	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00546082088018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs5906771	1.954e-05	5.373e-05	2.626e-05	5.696e-06	0.0001	1.256e-05	1.066e-05	2.66e-05	1.437e-05	3.938e-05	5.925e-05	0.0001	0.0001	0	0	1.077e-05	6.599e-05	1.883e-05	1.815e-05	4.36e-05	2.578e-05	0	6.856e-05	3.01e-06	1.13e-06	1.135e-05	4.24e-06	6.856e-05	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.86	0.10482	T	-0.58	0.17417	N	0.066	0.03841	-0.9911	0.32321	T	0.015	0.06138	T	9	0.060540706	0.07451	T	0.005461	0.14045	T	0.012	0.01476	0.262	0.20631	0.0884992946249	0.08302	0.013619594397315221	0.01319	0.00741002353109	0.00654	0.38353741169	0.22757	T	.	.	.	-0.492277	0.00632	T	-0.944898	0.00279	T	0.0351085627920025	0.02827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04640	B	.	.	0.647095	0.10153	6.898	0.83999236235221719	0.15039	0.00112	0.00708	N	AEFI	.	.	.	.	.	.	.	.	.	0.672134013985369	0.22386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2	-2.41	0.06184	-0.497000	0.06509	-9.164000	0.00858	-2.061000	0.00413	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.227:0.4184:0.1674:0.1872	1.184	0.01737	49	0.97662	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	44.43	62	chrX	49305467	.	C	T	44.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.451;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.68;MQRankSum=0.332;QD=2.47;ReadPosRankSum=0.178;SOR=0.551	GT:AD:DP:GQ:PL	0/1:15,3:18:56:56,0,482	9	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:61,482:543:99:15917,0,111	0	2	8	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3333	11747.7	759	chrX	55146139	.	G	A	11747.7	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.35;DP=6406;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.78;SOR=0.663	GT:AD:DP:GQ:PL	0/1:414,138:552:99:2139,0,12634	3	0	6	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:428,140:568:99:3002,0,13128	2	0	7	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:384,111:495:99:2471,0,11947	2	0	8	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	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:63,392:455:99:14896,0,434	0	1	9	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	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	.	.	.	.	.	.	.	.	0.05	236.43	454	chrX	55146214	.	G	A	236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.119;DP=4391;ExcessHet=0;FS=0.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=-1.383;SOR=0.687	GT:AD:DP:GQ:PL	0/1:391,43:434:99:248,0,14117	9	0	1	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	8214.98	454	chrX	55146226	.	A	G	8214.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.09;DP=4470;ExcessHet=4.5998;FS=0.676;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=0.786;SOR=0.622	GT:AD:DP:GQ:PL	0/1:269,147:416:99:3300,0,8959	4	0	6	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,78:358:99:0|1:55146247_G_C:2378,0,11389:55146247	3	0	7	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,75:350:99:0|1:55146247_G_C:2279,0,11266:55146247	3	0	7	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:135,208:343:99:6931,0,4804	0	1	9	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,69:338:99:0|1:55146247_G_C:2088,0,11088:55146247	3	0	7	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:57,208:265:99:7595,0,1461	0	1	9	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	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:149,67:216:99:1426,0,4759	3	0	7	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.25	632.51	118	chrX	74591813	.	G	A	632.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.041;DP=664;ExcessHet=2.8389;FS=0.949;InbreedingCoeff=-0.3742;MLEAC=5;MLEAF=0.25;MQ=58.42;MQRankSum=-6.076;QD=1.81;ReadPosRankSum=-2.665;SOR=0.746	GT:AD:DP:GQ:PL	0/1:49,7:56:74:74,0,1635	5	0	5	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	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,20:169:99:0|1:74591902_T_A:391,0,6176:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,17:192:99:0|1:74591902_T_A:187,0,7270:74591902	4	0	6	0
chrX	118346576	118346576	G	A	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184965:exon1:c.G73A:p.V25M,WDR44:NM_001184966:exon1:c.G73A:p.V25M,WDR44:NM_019045:exon1:c.G73A:p.V25M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0329487250461	0.0008	0.000264901	0.0007	0	0.0007	0	0	0.0010	0	0.0008	0.0006727	104	154602	rs187698818	0.0007	0.0007	0.0007	0.0006	0.0055	0.0006	0.0006	0.0037	0.0031	0.0001	0.0005	0.0051	3.491e-05	5.024e-05	0.0055	0.0006	0.0010	0.0004	0.0006	0.0006	0.0007	0.0005	0.0008	0.0005	0.0005	0.0006	0.0006	6.553e-05	0.0015	0.0004	0.0061	0	0	0.0046	0.0008	0	0	0.078	0.38185	T	0.228	0.34359	T	0.212	0.32920	B	0.035	0.28532	B	0.598794	0.10979	N	0.807531	1	0.08975	N	1.355	0.33814	L	-0.89	0.74793	T	-0.27	0.11366	N	0.148	0.15046	-0.9574	0.39662	T	0.182	0.52965	T	10	0.0048140883	0.00102	T	0.032949	0.54634	D	0.055	0.15663	.	.	0.284112513307	0.28011	0.05988480309334891	0.05928	0.224643676936	0.24998	0.361828774214	0.19652	T	0.113065	0.42981	T	-0.474375	0.00799	T	-0.526988	0.19589	T	0.00422034054563488	0.00045	T	0.813919	0.47665	T	0.06921623	0.15145	0.114033476	0.27525	0.06921623	0.15145	0.114033476	0.27524	-5.265	0.41464	T	.	.	0.246	0.48050	B	.;.;.	.;.;.	1.471088	0.18947	14.01	0.97075750636822389	0.32260	0.09800	0.15473	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999969169477	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.787	0.17740	0.481000	0.21969	1.945000	0.29852	0.672000	0.70159	0.001000	0.13787	0.018000	0.20648	0.959000	0.51448	0.2082:0.0:0.4186:0.3732	3.363	0.06775	758	0.50837	.;.;.	.	.	.	.	.	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	0.003446	0.000000	0.007421	0.003953	0.000000	0.000000	0.000000	0.000000	0.1	1623.12	37	chrX	118346576	.	G	A	1623.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.48;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1646,171,0	9	1	0	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S,ATP1B4:NM_012069:exon8:c.A910T:p.T304S	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	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	0.021424	0.000000	0.018553	0.035573	0.000000	0.011765	0.026549	0.026316	0.1	643.12	34	chrX	120379482	.	A	T	643.12	.	AC=2;AF=0.1;AN=20;DP=284;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.62;SOR=1.508	GT:AD:DP:GQ:PL	1/1:0,21:21:63:666,63,0	9	1	0	0
chrX	130037465	130037465	G	C	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_021946:exon9:c.G4404C:p.W1468C,BCORL1:NM_001379450:exon10:c.G4626C:p.W1542C,BCORL1:NM_001379451:exon10:c.G4626C:p.W1542C,BCORL1:NM_001184772:exon11:c.G4626C:p.W1542C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.90846864204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.008445	0.30835	N	0.000000	1	0.81001	D	.	.	.	-0.04	0.70133	T	-10.7	0.99376	D	0.787	0.79118	-0.1559	0.78771	T	0.317	0.68664	T	10	0.9441531	0.93739	D	0.908469	0.99316	D	0.611	0.84773	0.706	0.84236	0.947644542773	0.94709	0.9761163991730438	0.97601	1.60845377238	0.88855	0.78032708168	0.78976	T	0.195907	0.55213	T	0.404881	0.90195	D	0.343807	0.90071	D	0.9997518658638	0.98831	D	0.953705	0.82322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	0.96661	P	.;.;.	.;.;.	4.361537	0.67072	25.0	0.99189171163999446	0.54935	0.99827	0.99715	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999991068464	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	9.602000	0.97623	11.786000	0.96242	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:1.0:0.0	18.829	0.92098	428	0.80967	.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3007.12	35	chrX	130037465	.	G	C	3007.12	.	AC=2;AF=0.1;AN=20;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.07;SOR=1.007	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3030,300,0	9	1	0	0
chrX	141002746	141002754	CCAACGAGG	-	exonic	SPANXB1	.	nonframeshift deletion	SPANXB1:NM_032461:exon1:c.53_61del:p.E26_N28del	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259923760	0.0016	0.0037	0.0023	3.326e-05	0.0412	0.0015	0.0015	0.0392	0.0384	0.0003	0.0002	0.0006	0.0412	0.0004	0	0.0005	0.0023	0.0003	0.0024	0.0044	0.0035	5.547e-05	0.0518	0.0022	0.0021	0.0454	0.0430	0.0005	0.0044	0.0017	0.0011	0.0518	0.0002	0	0.0010	0.0051	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1261.39	108	chrX	141002745	.	TCCAACGAGG	T	1261.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.239;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=-1.808;QD=7.13;ReadPosRankSum=-1.069;SOR=0.7	GT:AD:DP:GQ:PL	0/1:136,41:177:99:1273,0,5401	9	0	1	0
chrX	153398312	153398329	CTCCTGCCTCACCTGCTG	-	exonic	PNMA6E	.	nonframeshift deletion	PNMA6E:NM_001367770:exon2:c.521_538del:p.A174_G179del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402068443	0.0002	0.0001	0.0002	0.0002	0.0032	0.0001	0.0001	0.0011	0.0007	0.0001	0	0.0001	0	0	0.0032	0.0002	0.0002	9.1e-05	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0002	0.0002	3.849e-05	0	0.0001	0	0	0	0	0.0004	0.0008	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1191.08	65	chrX	153398311	.	CCTCCTGCCTCACCTGCTG	C	1191.08	.	AC=2;AF=0.1;AN=20;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.27;QD=34.7;SOR=0.997	GT:AD:DP:GQ:PL	1/1:0,28:28:85:1214,85,0	9	1	0	0
chrX	153398329	153398347	GCTCCTGCCTCACCTACAC	0	exonic	PNMA6E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	343.7	40	chrX	153398329	.	GCTCCTGCCTCACCTACAC	*	343.7	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.36;DP=339;ExcessHet=0;FS=6.819;InbreedingCoeff=0.6078;MLEAC=2;MLEAF=0.1;MQ=59.56;MQRankSum=-2.069;QD=5.21;ReadPosRankSum=2.72;SOR=0.24	GT:AD:DP:GQ:PL	1/1:0,28:28:85:1214,85,0	9	1	0	0
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	179.62	.	chrY	9467257	.	G	A	179.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.98;DP=81;ExcessHet=0.3476;FS=3.14;MLEAC=3;MLEAF=0.214;MQ=35.37;MQRankSum=-0.493;QD=10.57;ReadPosRankSum=0.366;SOR=2.093	GT:AD:DP:GQ:PL	0/1:8,2:10:37:37,0,220	5	0	2	3