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	NSWES942-M	WT	HH	HZ	NC
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.05	879.43	33	chr1	1214100	.	G	A	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.161;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.892;SOR=0.735	GT:AD:DP:GQ:PL	0/1:17,39:56:99:891,0,323	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	0/1:232,31:263:99:101,0,6376	8	0	2	0
chr1	2606283	2606283	T	A	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon8:c.A715T:p.N239Y	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	.	0.00199681	0.0021	0	8.67e-05	0	0	0	0.0067	0.0152	0.0017529	271	154602	rs533316401	0.0010	0.0010	0.0006	0.0015	0.0162	0.0010	0.0010	0.0155	0.0152	2.987e-05	4.472e-05	0	2.519e-05	0	0.0007	4.137e-05	0.0010	0.0162	0.0005	0.0006	0.0003	0.0008	0.0162	0.0004	0.0004	0.0133	0.0122	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0162	0.02	0.49613	D	0.052	0.47581	T	0.949	0.53761	P	0.516	0.48072	P	0.000045	0.53742	D	0.160044	0.999804	0.81001	D	2.175	0.60977	M	-0.79	0.73739	T	-2.29	0.50992	N	0.697	0.70175	-0.1775	0.78243	T	0.392	0.74575	T	10	0.029409438	0.01068	T	.	.	.	0.399	0.71321	0.575	0.69957	0.856652639049	0.85527	0.7386314533236433	0.73808	0.70065952119	0.61107	0.502461075783	0.39171	T	0.318181	0.68957	T	-0.319883	0.06908	T	-0.219942	0.52743	T	0.0724176210184724	0.08987	T	0.756224	0.37950	T	0.17608139	0.38501	0.1801663	0.40799	0.17608139	0.38501	0.1801663	0.40798	-7.204	0.55510	T	.	.	0.225	0.45665	B	.	.	6.698036	0.95608	35	0.99304733670285694	0.58759	0.88838	0.48962	D	AEFBI	0.598690	0.59199	D	0.30776831473035	0.56545	3.819512	0.268869553611754	0.53730	3.540605	0.971514724104596	0.29294	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.76	4.76	0.60189	5.544000	0.66938	4.822000	0.45127	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.0:0.0:1.0	13.456	0.60649	842	0.36989	Peptidase M13, N-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	0.001512	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.003788	0.05	1249.43	34	chr1	2606283	.	T	A	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.208;DP=439;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.324;SOR=0.851	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1261,0,1716	9	0	1	0
chr1	2611305	2611305	T	G	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon4:c.A268C:p.T90P	.	.	.	.	.	.	.	.	.	.	.	3457493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.462	0.512412969835	.	.	5.767e-05	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs770298035	3.027e-05	3.078e-05	1.535e-05	4.546e-05	0.0005	2.281e-05	2.027e-05	0.0004	0.0003	3.173e-05	0	0	0	0	0	0	1.708e-05	0.0005	1.316e-05	1.314e-05	0	2.695e-05	0.0004	2.19e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.102	0.53900	T	0.211	0.26631	T	0.007	0.14184	B	0.013	0.16460	B	0.362399	0.13650	N	0.707040	0.999489	0.47237	D	1.47	0.36993	L	-1.57	0.81900	D	-2.17	0.49018	N	0.449	0.48689	-0.3222	0.74360	T	0.415	0.76218	T	10	0.3808394	0.54181	T	0.512413	0.95322	D	0.462	0.75889	0.392	0.41606	0.68083381961	0.67812	0.7646848045696039	0.76417	0.706614473469	0.61453	0.487788408995	0.37133	T	0.534415	0.83945	D	-0.0743089	0.40637	T	-0.0441921	0.67417	D	0.0981658282019208	0.12154	T	0.659534	0.36032	T	0.4142778	0.61708	0.5274414	0.72697	0.4142778	0.61709	0.5274414	0.72697	-11.516	0.82414	D	.	.	0.092	0.33687	B	.;.	.;.	3.284015	0.45011	22.0	0.97548436440061859	0.34555	0.76328	0.37426	D	ALL	0.481519	0.52278	N	-0.354627254600918	0.27103	1.48433	-0.300205540819873	0.28093	1.563627	0.976444975880345	0.29725	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.604944	0.38103	0	.	.	3.77	2.66	0.30672	1.769000	0.38152	1.636000	0.27766	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0983:0.0:0.9017	8.721	0.33600	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	.	.	.	.	.	.	.	.	0.05	752.43	42	chr1	2611305	.	T	G	752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.583;DP=428;ExcessHet=0;FS=1.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=1.89;SOR=0.842	GT:AD:DP:GQ:PL	0/1:59,35:94:99:764,0,1439	9	0	1	0
chr1	2641664	2641664	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon8:c.C2944T:p.R982C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00995942131	.	0.00139776	0.0003	0	0	0	0	0	0	0.0004	8.41e-05	13	154602	rs545565598	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0014	0.0013	9.5e-05	0	0	0.0018	0	0.0004	4.265e-05	0.0002	0.0007	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0035	0.0030	0	0	0	0	0.0050	0	0	2.941e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.698236	0.10116	U	0.853808	0.971307	0.26099	N	-0.345	0.03330	N	.	.	.	.	.	.	.	.	-1.0362	0.18481	T	0.036	0.15726	T	8	0.004797101	0.00101	T	0.009959	0.25923	T	0.020	0.03691	0.542	0.65446	0.366659145958	0.36277	0.2367700363662724	0.23592	.	.	0.443857967854	0.31104	T	0.008537	0.07834	T	-0.62341	0.00105	T	-0.663977	0.08001	T	0.017942775474669	0.00520	T	0.248475	0.03691	T	0.048379026	0.08423	0.04485265	0.05903	0.048379026	0.08422	0.04485265	0.05903	-3.662	0.18759	T	.	.	0.072	0.05145	B	.;.	.;.	1.321670	0.17257	13.06	0.85989730381820351	0.16241	0.03056	0.07957	N	AEFDBHCI	0.048031	0.08154	N	-0.997261971277257	0.08662	0.4069965	-1.03376588385426	0.09048	0.4480441	0.999997108725669	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.505578	0.09266	0	0.604944	0.38103	0	.	.	3.85	1.38	0.21262	-0.058000	0.11707	2.457000	0.32838	-0.059000	0.16651	0.002000	0.15269	1.000000	0.68203	0.032000	0.13371	0.671:0.0:0.1186:0.2105	3.227	0.06336	.	.	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	762.43	33	chr1	2641664	.	G	A	762.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.022;SOR=0.616	GT:AD:DP:GQ:PL	0/1:19,27:46:99:774,0,450	9	0	1	0
chr1	3494421	3494421	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon32:c.C4079T:p.T1360M	.	421	1099	2	0	0	2	0.000909091	.	.	.	2340857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0464234641605	0.0003	0.000399361	0.0012	0.0020	0	0	0	0.0010	0.0058	0.0014	0.0002781	43	154602	rs369605349	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0006	0.0002	0	2.793e-05	2.483e-05	0.0009	0.0003	0.0005	0.0008	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	0.0004	0.0005	0.0006	0.043	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.954	0.80445	D	0.023715	0.26392	U	0.356855	1	0.08975	N	3.495	0.92709	M	1.39	0.33842	T	-5.37	0.84882	D	0.495	0.52829	-0.7620	0.57296	T	0.252	0.62142	T	10	0.09761405	0.17592	T	0.046423	0.62452	D	0.115	0.32236	.	.	0.37550373646	0.37164	0.33723940004229913	0.33636	0.530034928815	0.50556	0.481380909681	0.36246	T	0.08297	0.36949	T	-0.371182	0.03534	T	-0.362301	0.37785	T	0.113025641101455	0.13734	T	0.823718	0.48487	T	0.17333926	0.38076	0.16201071	0.37655	0.17333926	0.38076	0.16201071	0.37654	-6.505	0.52380	T	.	.	0.155	0.34205	B	.;.	.;.	3.309566	0.45468	22.1	0.99695119602782367	0.80248	0.78706	0.38872	D	AEFBI	0.287778	0.39984	N	0.174880854504501	0.49995	3.193935	-0.0693837955541418	0.36662	2.136531	0.998807558846388	0.37711	0.634777	0.41761	0	0.588066	0.40923	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	3.58	2.65	0.30588	3.640000	0.54086	3.772000	0.39758	0.676000	0.76740	0.809000	0.29839	0.730000	0.26410	0.008000	0.08271	0.0:0.3226:0.6774:0.0	12.456	0.55043	982	0.03397	.;Laminin EGF domain|EGF-like domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1110.43	34	chr1	3494421	.	G	A	1110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.89;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-1.804;SOR=0.634	GT:AD:DP:GQ:PL	0/1:18,41:59:99:1122,0,352	9	0	1	0
chr1	6555409	6555409	G	C	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_138697:exon1:c.G36C:p.Q12H,TAS1R1:NM_177540:exon1:c.G36C:p.Q12H	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0002	0.0113818	0.0057	0.0002	0	0.0733	0	2.634e-05	0.0039	0.0007	0.0035252	545	154602	rs75881102	0.0016	0.0016	0.0017	0.0015	0.0513	0.0016	0.0015	0.0495	0.0487	0	6.806e-05	0	0.0513	0	0.0002	3.425e-05	0.0039	0.0005	0.0020	0.0020	0.0018	0.0022	0.0509	0.0018	0.0017	0.0459	0.0439	0	0	0.0017	0	0.0509	0	0	4.409e-05	0.0024	0.0006	0.005	0.91255	D	0.168	0.34359	T	0.012	0.16265	B	0.006	0.12133	B	0.037741	0.01838	N	2.257320	0.999148	0.21576	N	.	.	.	-2.46	0.91192	D	-0.34	0.22294	N	0.189	0.27673	-0.6805	0.61349	T	0.109	0.39462	T	10	0.0036830604	0.00068	T	.	.	.	0.242	0.54781	0.487	0.57098	0.551009825273	0.54757	0.5893080090986877	0.58860	0.15539898781	0.17539	0.395897090435	0.24498	T	0.047341	0.27694	T	-0.310079	0.07740	T	-0.180939	0.56437	T	0.0777268205650559	0.09693	T	0.640436	0.25296	T	0.072656915	0.16180	0.096488826	0.22929	0.072656915	0.16180	0.096488826	0.22928	-3.658	0.18700	T	.	.	0.159	0.35119	B	.;.	.;.	0.950609	0.13269	9.768	0.9864516869967761	0.44110	0.47496	0.27996	N	AEFDGBCIJ	0.080929	0.16368	N	-0.855265901914736	0.11921	0.5780545	-0.770268785450118	0.15225	0.7996643	0.999988284130698	0.51787	0.403107	0.06075	0	0.541556	0.11502	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.46	1.17	0.19998	0.729000	0.25696	2.052000	0.30351	-0.734000	0.03706	0.990000	0.36992	0.999000	0.35428	0.007000	0.07825	0.1089:0.0:0.4765:0.4146	4.612	0.11796	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	0.002020	0.000000	0.001359	0.002924	0.000000	0.008621	0.003067	0.000000	0.05	705.43	33	chr1	6555409	.	G	C	705.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.48;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.83;SOR=0.712	GT:AD:DP:GQ:PL	0/1:32,29:61:99:717,0,910	9	0	1	0
chr1	6632889	6632889	C	T	exonic	THAP3	.	nonsynonymous SNV	THAP3:NM_001195752:exon5:c.C529T:p.H177Y,THAP3:NM_001195753:exon6:c.C532T:p.H178Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.397860294551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968143932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.993	0.68779	D	0.979	0.79672	D	0.006697	0.31864	N	0.211412	0.99762	0.81001	D	2.085	0.57729	M	-3.99	0.96308	D	-4.48	0.77965	D	0.652	0.67650	0.968	0.96669	D	0.909	0.96986	D	10	0.797339	0.79189	D	0.39786	0.93332	D	0.640	0.86283	0.349	0.34598	0.913766752971	0.91290	0.4809612143496493	0.48016	1.13332111402	0.78691	0.672153413296	0.63144	T	0.193725	0.54928	T	0.233683	0.77067	D	0.0978926	0.76768	D	0.989117324352264	0.79372	D	0.80342	0.45053	T	0.42294854	0.62287	0.49044633	0.70520	0.42294854	0.62288	0.49044633	0.70521	-7.247	0.56480	T	.	.	0.717	0.73934	P	.;.	.;.	4.709019	0.75631	26.4	0.99716318213912158	0.81703	0.91187	0.53031	D	AEFDBCI	0.628351	0.61047	D	0.556172317222219	0.70459	5.504556	0.489561293977961	0.67298	5.065126	0.999972958123827	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.05	4.05	0.46415	4.711000	0.61570	7.544000	0.60141	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	11.575	0.50113	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1791.43	37	chr1	6632889	.	C	T	1791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.565;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.717;SOR=0.711	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1803,0,1656	9	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	5513.28	34	chr1	10326244	.	G	C	5513.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,25:168:91:0|1:10326244_G_C:91,0,5235:10326244	5	0	5	0
chr1	10660248	10660248	A	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.T794C:p.V265A,CASZ1:NM_017766:exon6:c.T794C:p.V265A	.	424	1071	26	1	0	28	0.0129032	.	.	.	695947	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0069	0.00299521	0.0073	0.0010	0.0046	0	0.0017	0.0115	0.0056	0.0022	0.0069469	1074	154602	rs138985539	0.0081	0.0081	0.0082	0.0080	0.0104	0.0080	0.0079	0.0087	0.0086	0.0016	0.0059	0.0313	0	0.0021	0.0104	0.0088	0.0088	0.0024	0.0070	0.0070	0.0075	0.0065	0.0102	0.0066	0.0065	0.0096	0.0094	0.0015	0	0.0095	0.0297	0.0002	0.0011	0.0306	0.0102	0.0114	0.0021	0.908	0.02477	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.083835	0.20731	N	0.492755	1	0.08975	N	-0.345	0.03330	N	.	.	.	0.52	0.02853	N	0.052	0.02366	-0.9854	0.33735	T	0.015	0.05801	T	9	0.0022799373	0.00033	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.08958754732725842	0.08891	.	.	0.458169311285	0.33059	T	0.111085	0.42630	T	-0.703405	0.00035	T	-0.771493	0.02719	T	0.000453725176605205	0.00004	T	0.349165	0.07749	T	0.0205099	0.00611	0.024355443	0.00453	0.026193097	0.01646	0.024355443	0.00453	-2.53	0.06004	T	.	.	0.051	0.00234	B	.;.	.;.	-0.290436	0.02660	0.340	0.20271689420521952	0.00722	0.04523	0.10152	N	AEFBI	0.045906	0.07563	N	-1.40019804897115	0.02638	0.1167413	-1.31256629560817	0.04267	0.2008946	0.777367603031914	0.23775	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	1.3	0.20778	0.977000	0.29072	0.320000	0.17174	-0.745000	0.03636	0.582000	0.27602	0.000000	0.08366	0.047000	0.14932	0.4216:0.0:0.4186:0.1597	3.961	0.08906	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	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	0.007056	0.005102	0.009511	0.008772	0.000000	0.000000	0.015244	0.000000	0.05	1045.43	38	chr1	10660248	.	A	G	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=450;ExcessHet=0;FS=1.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=1.41;SOR=0.534	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1057,0,1233	9	0	1	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	721.37	76	chr1	13318598	.	G	A	721.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.761;DP=1190;ExcessHet=0.2348;FS=10.425;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=38.24;MQRankSum=-2.061;QD=2.05;ReadPosRankSum=-1.739;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,17:179:99:0|1:13318598_G_A:206,0,6676:13318598	7	0	2	1
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	686.14	76	chr1	13318601	.	G	A	686.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.38;DP=802;ExcessHet=0.2348;FS=20.9;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=37.62;MQRankSum=-1.868;QD=1.98;ReadPosRankSum=-0.891;SOR=2.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:13318598_G_A:187,0,6658:13318598	8	0	2	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:114,37:151:64:64,0,2608	4	0	6	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	142.73	74	chr1	15559540	.	G	C	142.73	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-4.323;DP=924;ExcessHet=0.2348;FS=227.947;InbreedingCoeff=-0.177;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.03;SOR=9.49	GT:AD:DP:GQ:PL	0/1:97,29:126:35:35,0,2062	6	0	2	2
chr1	15725495	15725495	G	C	exonic	PLEKHM2	.	nonsynonymous SNV	PLEKHM2:NM_015164:exon8:c.G891C:p.E297D	.	419	1090	12	1	0	14	0.00638104	.	.	.	447354	not_provided|Dilated_Cardiomyopathy,_Recessive	MedGen:C3661900|MedGen:CN239222	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0042	0.00239617	0.0091	0.0008	0.0171	0	0.0183	0.0152	0	0.0013	0.0032212	498	154602	rs61738982	0.0043	0.0043	0.0043	0.0044	0.0047	0.0042	0.0042	0.0046	0.0046	0.0007	0.0038	0.0094	0	0.0034	0.0032	0.0047	0.0044	0.0016	0.0034	0.0034	0.0036	0.0032	0.0052	0.0032	0.0031	0.0048	0.0046	0.0008	0	0.0027	0.0089	0	0.0040	0.0102	0.0052	0.0047	0.0006	0.166	0.23183	T	0.365	0.16717	T	0.001	0.07471	B	0.003	0.08700	B	0.297958	0.14650	N	0.673698	0.999997	0.08975	N	1.78	0.46185	L	0.81	0.48769	T	-0.13	0.14193	N	0.098	0.09772	-1.0525	0.13709	T	0.050	0.21456	T	10	0.0027320385	0.00042	T	.	.	.	0.029	0.06676	0.092	0.01108	0.187945064343	0.18414	0.04548187094265733	0.04492	0.136916518323	0.15440	0.369736731052	0.20794	T	0.012511	0.10987	T	-0.601717	0.00142	T	-0.634351	0.10086	T	0.00112805250531267	0.00011	T	0.587941	0.21745	T	0.05514608	0.10677	0.050879143	0.08074	0.05514608	0.10676	0.050879143	0.08074	-4.44	0.30096	T	.	.	0.084	0.11172	B	.;.;.	.;.;.	0.488346	0.08577	5.343	0.98370892766588502	0.40750	0.12125	0.17075	N	AEFDBI	0.089372	0.18115	N	-1.16558310143289	0.05529	0.2522628	-1.16605404051323	0.06484	0.312281	0.933966873701734	0.27151	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.35	-0.213	0.12517	0.269000	0.18354	0.730000	0.21079	-0.118000	0.14412	0.008000	0.17931	0.113000	0.22817	0.300000	0.24500	0.2754:0.4223:0.3023:0.0	7.309	0.25639	756	0.51065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003036	0.005051	0.002725	0.002924	0.000000	0.000000	0.009259	0.000000	0.05	1279.43	34	chr1	15725495	.	G	C	1279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.609;DP=430;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.621;SOR=0.619	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1291,0,1203	9	0	1	0
chr1	15929667	15929667	C	T	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.C3427T:p.R1143C	.	431	1083	8	0	0	8	0.00367985	.	.	.	3208072	SPEN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00323857580161	0.0004	0.000399361	0.0005	9.988e-05	0.0003	0	0	0.0007	0.0011	0.0008	0.0004722	73	154602	rs145802445	0.0003	0.0003	0.0002	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.976e-05	0.0002	0	0	0	0.0024	0.0003	0.0005	0.0010	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	4.815e-05	0	0	0	0	0	0	0.0004	0.0005	0.0010	0.132	0.26519	T	0.306	0.19972	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999984	0.18198	N	0	0.06538	N	3.09	0.08371	T	-1.59	0.38345	N	0.08	0.05542	-0.9583	0.39497	T	0.008	0.02884	T	9	0.013141364	0.00280	T	0.003239	0.07147	T	0.059	0.16972	.	.	0.082315109003	0.07666	0.10271011754872392	0.10201	0.314982508774	0.33775	0.218506008387	0.01225	T	0.57242	0.85865	D	-0.626132	0.00101	T	-0.744977	0.03685	T	0.01737310426068	0.00475	T	0.80372	0.45098	T	0.06449365	0.13690	0.048732556	0.07301	0.06449365	0.13690	0.048732556	0.07300	-7.142	0.55064	T	.	.	0.075	0.05579	B	.	.	2.811054	0.37005	20.4	0.80941301008218236	0.13442	0.68108	0.33678	D	AEFBCIJ	0.067842	0.13355	N	-0.473013561037891	0.22967	1.230	-0.242927380161229	0.30014	1.686425	0.00591882869419845	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.13	0.35090	2.856000	0.48040	2.831000	0.35021	0.599000	0.40250	0.998000	0.41325	0.698000	0.26216	0.988000	0.63387	0.0:0.6445:0.2198:0.1356	4.939	0.13305	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	5573.43	34	chr1	15929667	.	C	T	5573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.19;DP=2223;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.05;SOR=0.85	GT:AD:DP:GQ:PL	0/1:250,206:456:99:5585,0,6205	9	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.5	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	0/1:495,95:590:99:1508,0,14239	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	0/1:680,101:781:99:777,0,19197	0	0	10	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:680,107:787:99:0|1:16564107_T_G:2384,0,27991:16564107	3	0	7	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.15	2935.45	770	chr1	16564112	.	G	A	2935.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.06;DP=6069;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.24;MQRankSum=4.23;QD=1.31;ReadPosRankSum=0.23;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:665,107:772:99:0|1:16564107_T_G:2388,0,27414:16564107	7	0	3	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	0/1:394,186:580:99:4214,0,12690	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	0/1:409,145:554:99:3013,0,13793	1	0	9	0
chr1	16585649	16585649	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0064	0.0087	0.0063	0.0178	0.0172	0.0154	0.0063	3.84e-05	1	26028	rs758865423	0.0004	0.0031	0.0004	0.0004	0.0021	0.0004	0.0004	0.0010	0.0008	0.0002	4.516e-05	0.0002	0.0002	0.0002	0.0021	0.0005	0.0003	0.0003	0.0001	0.0006	0.0002	5.375e-05	0.0002	7.578e-05	6.282e-05	0.0001	8.889e-05	4.809e-05	0	6.54e-05	0	0	9.429e-05	0	0.0002	0.0005	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	0.022807	0.035714	0.027397	0.013043	0.000000	0.035088	0.021739	0.008197	0.05	111.43	177	chr1	16585649	.	G	A	111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.41;DP=1092;ExcessHet=0;FS=4.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.52;MQRankSum=-0.21;QD=0.45;ReadPosRankSum=0.597;SOR=1.261	GT:AD:DP:GQ:PL	0/1:224,24:248:99:123,0,6228	9	0	1	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1	1821.14	721	chr1	16591991	.	C	T	1821.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=4193;ExcessHet=0.2348;FS=0.753;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.17;MQRankSum=-3.257;QD=1.35;ReadPosRankSum=-0.074;SOR=0.637	GT:AD:DP:GQ:PL	0/1:565,86:651:99:647,0,14544	8	0	2	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	0/1:316,85:401:99:1443,0,8752	7	0	3	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	103.43	587	chr1	16758952	.	G	A	103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.538;DP=4647;ExcessHet=0;FS=5.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.9;MQRankSum=-2.328;QD=0.17;ReadPosRankSum=-0.304;SOR=1.249	GT:AD:DP:GQ:PL	0/1:544,68:612:99:115,0,17500	9	0	1	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	125.14	218	chr1	16759377	.	A	G	125.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.52;DP=1718;ExcessHet=0.2348;FS=6.265;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.1;MQ=52.93;MQRankSum=-7.383;QD=0.31;ReadPosRankSum=-2.476;SOR=1.354	GT:AD:DP:GQ:PL	0/1:181,20:201:21:21,0,4756	8	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	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	1/1:0,39:39:99:1338,117,0	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	0/1:297,67:364:99:992,0,7687	4	0	6	0
chr1	19243991	19243991	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271427:exon3:c.C245T:p.T82M,EMC1:NM_001271428:exon3:c.C245T:p.T82M,EMC1:NM_001375820:exon3:c.C245T:p.T82M,EMC1:NM_001375821:exon3:c.C245T:p.T82M,EMC1:NM_015047:exon3:c.C245T:p.T82M	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	216792	EMC1-related_disorder|not_provided|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.148	0.0121936954801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs869320625	2.189e-05	2.189e-05	2.45e-05	1.925e-05	2.698e-05	1.584e-05	1.356e-05	1.914e-05	1.661e-05	0	0	0	0	0	0	2.698e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50676	D	0.186	0.28860	T	0.988	0.66517	D	0.828	0.59497	P	0.000006	0.62929	D	0.143658	0.996625	0.81001	D	1.67	0.42885	L	0.89	0.45636	T	-1.18	0.31576	N	0.816	0.81162	-0.9312	0.43963	T	0.172	0.51484	T	10	0.7221659	0.73735	D	0.012194	0.30540	T	0.148	0.39182	.	.	0.77875509527	0.77672	0.46665215934089405	0.46584	0.97207340511	0.73401	0.499712109566	0.38788	T	0.015148	0.12759	T	-0.151847	0.28022	T	-0.35904	0.38163	T	0.768307268619537	0.44338	D	0.966103	0.87544	D	0.048998058	0.08630	0.061029535	0.11720	0.05895431	0.11923	0.061029535	0.11720	-7.445	0.57243	T	.	.	0.089	0.25462	B	.;.	.;.	4.771348	0.77247	26.7	0.99878478987883057	0.95491	0.97402	0.74521	D	AEFBI	0.477328	0.52036	N	0.599481369089772	0.73143	5.918114	0.636163549955684	0.77583	6.707588	0.974983052718382	0.29592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	5.08	0.68373	4.929000	0.63156	8.532000	0.77460	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.1379:0.862:0.0	15.580	0.76171	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr1	19243991	.	G	A	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=451;ExcessHet=0;FS=4.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.114;SOR=0.668	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1362,0,1830	9	0	1	0
chr1	21887447	21887447	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.G931A:p.E311K,HSPG2:NM_005529:exon8:c.G931A:p.E311K	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3166520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0186821916866	.	.	8.265e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs200992640	8.893e-06	8.893e-06	9.53e-06	8.251e-06	1.079e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.806	0.03068	T	0.888	0.03152	T	0.0	0.02946	B	0.0	0.01387	B	0.480481	0.04978	N	1.376210	1	0.08975	N	-0.085	0.04774	N	-3.69	0.95317	D	0.28	0.04233	N	0.102	0.08506	-0.2433	0.76540	T	0.618	0.86535	D	10	0.054083526	0.05703	T	0.018682	0.40822	T	0.352	0.67326	0.491	0.57732	0.426084969639	0.42228	0.28324127350891165	0.28237	0.225619827505	0.25111	0.231754183769	0.02101	T	0.308387	0.68048	T	-0.0822328	0.39352	T	-0.18677	0.55893	T	0.0125637296587229	0.00209	T	0.788921	0.42853	T	0.04890592	0.08599	0.04576617	0.06232	0.04890592	0.08599	0.04576617	0.06231	-7.351	0.56558	T	.	.	0.060	0.00904	B	.	.	0.404490	0.07755	4.440	0.52620086053490323	0.04782	0.05690	0.11609	N	AEFDBCI	0.019896	0.00734	N	-1.36308495391848	0.02992	0.1329453	-1.29019578717665	0.04562	0.2154723	0.998196650023082	0.36560	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-0.0238	0.13267	-0.780000	0.04759	-0.314000	0.10017	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.0:0.3433:0.0:0.6567	8.236	0.30787	775	0.48401	Low-density lipoprotein (LDL) receptor class A, conserved site|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2403.43	35	chr1	21887447	.	C	T	2403.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-1.097;SOR=0.727	GT:AD:DP:GQ:PL	0/1:59,89:148:99:2415,0,1371	9	0	1	0
chr1	21983722	21983722	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon5:c.C391T:p.R131C	.	425	1085	12	0	0	12	0.00549954	.	.	.	718664	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.532	.	0.0011	0.0173722	0.0096	0.0010	0.0008	0.0251	0.0002	0.0004	0.0133	0.0540	0.0082923	1282	154602	rs149805485	0.0042	0.0042	0.0027	0.0058	0.0533	0.0041	0.0041	0.0520	0.0514	0.0008	0.0003	0	0.0204	7.489e-05	0.0038	0.0003	0.0055	0.0533	0.0031	0.0031	0.0022	0.0041	0.0567	0.0029	0.0028	0.0512	0.0490	0.0011	0	0.0004	0	0.0247	0	0.0034	0.0002	0.0024	0.0567	0.019	0.50132	D	0.028	0.54934	D	1.0	0.90584	D	0.823	0.59197	P	0.100394	0.19889	N	0.488930	0.999999	0.08975	N	2.59	0.75718	M	-2.51	0.89293	D	-5.75	0.87760	D	0.464	0.50056	-0.2436	0.76532	T	0.468	0.79476	T	10	0.003702402	0.00068	T	.	.	.	0.532	0.80307	.	.	0.399889258716	0.39604	0.6047300115706986	0.60404	0.738108888405	0.63096	0.457349479198	0.32947	T	0.41845	0.77079	T	-0.211407	0.19182	T	-0.0369708	0.67906	D	0.0491754289312339	0.05354	T	0.918108	0.70532	D	0.19427396	0.41170	0.27008674	0.52896	0.19427396	0.41170	0.27008674	0.52895	-10.02	0.74032	D	.	.	0.415	0.60399	A	.;.	.;.	3.340982	0.46033	22.2	0.99582197117975779	0.73099	0.06319	0.12316	N	AEFBI	0.240755	0.36248	N	-0.389966078087591	0.25826	1.40482	-0.597886246141452	0.19547	1.04929	1.53145191743026E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.42	2.43	0.28797	-0.359000	0.07683	0.703000	0.20862	-1.365000	0.01177	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3509:0.6491:0.0:0.0	10.963	0.46608	772	0.48957	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.010101	0.001359	0.002924	0.000000	0.008621	0.003049	0.015152	0.05	2650.43	115	chr1	21983722	.	C	T	2650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.305;DP=1347;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.99;MQRankSum=-2.708;QD=13.12;ReadPosRankSum=-0.42;SOR=0.569	GT:AD:DP:GQ:PL	0/1:93,109:202:99:2662,0,2236	9	0	1	0
chr1	22511813	22511813	A	C	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon9:c.A1804C:p.T602P,ZBTB40:NM_014870:exon11:c.A2140C:p.T714P,ZBTB40:NM_001083621:exon12:c.A2140C:p.T714P	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0147998039284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.18434	T	0.126	0.36765	T	0.0	0.02946	B	0.001	0.04355	B	0.989794	0.08038	N	0.994717	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-1.2	0.32791	N	0.103	0.15046	-0.9333	0.43650	T	0.189	0.54064	T	10	0.044253767	0.03361	T	0.015	0.35150	T	0.153	0.40148	0.116	0.02439	0.379193981924	0.37526	0.14638626159737997	0.14560	0.150298648537	0.16954	0.278579056263	0.07295	T	0.024018	0.18227	T	-0.223312	0.17542	T	-0.558548	0.16513	T	0.0359694212675095	0.02976	T	0.462854	0.13445	T	0.074280046	0.16658	0.09294639	0.21929	0.074280046	0.16658	0.09294639	0.21929	-3.297	0.13698	T	.	.	0.070	0.12181	B	.;.;.	.;.;.	1.257594	0.16549	12.61	0.28703041354361669	0.01487	0.14688	0.18534	N	AEFBI	0.183408	0.31073	N	-1.37546185883262	0.02869	0.1273322	-1.45491284814855	0.02726	0.1259007	0.0252566081396356	0.13636	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.73	-7.03	0.01428	-0.177000	0.09789	-0.042000	0.12656	-0.095000	0.16041	0.019000	0.19563	0.000000	0.08366	0.228000	0.22680	0.2375:0.3156:0.4469:0.0	9.161	0.36185	858	0.34001	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1657.43	43	chr1	22511813	.	A	C	1657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=467;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.743;SOR=0.633	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1669,0,1677	9	0	1	0
chr1	22953111	22953111	C	T	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.G1672A:p.D558N	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0063	0	0	0	0.0427	0.0033	0.0625	0	0.0006145	95	154602	rs183423016	0.0044	0.0033	0.0045	0.0044	0.0047	0.0043	0.0043	0.0046	0.0046	0.0006	0.0021	0.0016	0	0.0095	0.0031	0.0047	0.0029	0.0006	0.0033	0.0033	0.0030	0.0036	0.0044	0.0031	0.0030	0.0040	0.0038	0.0008	0	0.0018	0.0003	0	0.0125	0.0034	0.0044	0.0024	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.008165479	0.00185	T	.	.	.	.	.	.	.	0.39694197178	0.39312	0.6323432629744559	0.63168	.	.	.	.	.	0.004782	0.04195	T	-0.501457	0.00561	T	-0.49158	0.23225	T	.	.	.	0.936106	0.76057	D	0.11265751	0.26614	0.28331494	0.54324	0.11265751	0.26613	0.28331494	0.54323	-3.972	0.23383	T	.	.	0.673	0.71868	P	.;.	.;.	4.717928	0.75867	26.4	0.86755802676307481	0.16751	0.97941	0.78296	D	AEFDBI	0.605307	0.59607	D	.	.	.	.	.	.	0.999511076539664	0.40117	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.67	3.68	0.41359	5.477000	0.66525	5.489000	0.48743	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.8232:0.1767:0.0	11.964	0.52315	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1664.43	34	chr1	22953111	.	C	T	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.436;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.457;SOR=0.744	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1676,0,1210	9	0	1	0
chr1	25837515	25837516	GG	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.117_118del:p.L40Sfs*7,AUNIP:NM_024037:exon2:c.117_118del:p.L40Sfs*7	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	0.0002005	31	154602	rs762902706	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.236e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.411e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	753.39	33	chr1	25837514	.	AGG	A	753.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.501;DP=347;ExcessHet=0;FS=6.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=0.183;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:45:99:0|1:25837514_AGG_A:765,0,990:25837514	9	0	1	0
chr1	25837518	25837518	G	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.115delC:p.L39Sfs*65,AUNIP:NM_024037:exon2:c.115delC:p.L39Sfs*65	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	1.29e-05	2	154602	rs761229800	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.237e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0005	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.414e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	753.39	33	chr1	25837517	.	AG	A	753.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.823;DP=346;ExcessHet=0;FS=6.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=0.023;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:45:99:0|1:25837514_AGG_A:765,0,990:25837514	9	0	1	0
chr1	26058484	26058484	A	T	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon5:c.T737A:p.I246N	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0259062497016	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs751834690	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0003	4.047e-05	4.967e-05	0.0002	3.943e-05	3.94e-05	2.57e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.048	0.40068	D	0.057	0.46406	T	0.207	0.29891	B	0.106	0.31143	B	0.000010	0.62929	D	0.149749	0.982539	0.39903	D	2.215	0.62545	M	0.89	0.45636	T	-3.16	0.64246	D	0.786	0.78262	-1.0011	0.29602	T	0.112	0.40075	T	10	0.64110816	0.69062	D	0.025906	0.48854	D	0.200	0.48430	0.502	0.59460	0.395289904662	0.39143	0.7605954958857244	0.76007	0.657483067834	0.58699	0.639129638672	0.58441	T	0.715226	0.91908	D	-0.282996	0.10352	T	-0.352132	0.38960	T	0.289428681135178	0.24566	T	0.776522	0.40874	T	0.5796899	0.71592	0.33347118	0.59183	0.5796899	0.71593	0.33347118	0.59183	-9.859	0.73063	D	.	.	0.225	0.45702	B	.	.	3.154724	0.42722	21.6	0.97486123199336694	0.34214	0.88036	0.47792	D	AEFGBI	0.410139	0.48113	N	-0.238672972915784	0.31558	1.770739	-0.148059369265145	0.33482	1.915774	0.987068973636989	0.31178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.5	3.15	0.35301	1.989000	0.40328	4.736000	0.44580	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8005:0.0:0.0709:0.1286	7.353	0.25873	720	0.55521	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1242.43	33	chr1	26058484	.	A	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.294;DP=414;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.6;SOR=0.869	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1254,0,1304	9	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	12275.9	45	chr1	26282323	.	A	*	12275.9	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.395;DP=333;ExcessHet=0;FS=12.7;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.87;MQRankSum=0;QD=24.48;ReadPosRankSum=-0.278;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:28:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1156,880,856:26282320	6	0	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8079.96	55	chr1	26282334	.	TGGGGCCG	*	8079.96	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.35;DP=378;ExcessHet=4.5998;FS=16.733;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.89;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.863;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:29:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1204,958,948:26282320	7	0	3	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	7970.94	64	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	7970.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.886;DP=414;ExcessHet=4.5998;FS=13.964;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.9;MQRankSum=0;QD=20.39;ReadPosRankSum=0.282;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,6:29:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1202,958,990:26282320	7	0	3	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|1:0,23:29:69:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1022,69,0:26282320	0	4	6	0
chr1	27332098	27332098	C	T	exonic	TMEM222	.	nonsynonymous SNV	TMEM222:NM_032125:exon3:c.C308T:p.A103V	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.00156299132547	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs139728654	4.104e-06	4.104e-06	4.084e-06	4.125e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	4.967e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.28026	T	0.275	0.22761	T	0.0	0.02946	B	0.002	0.06944	B	0.001845	0.37840	N	0.297439	0.753868	0.29610	N	0.245	0.09735	N	.	.	.	-0.57	0.17417	N	0.303	0.34228	-1.0633	0.10950	T	0.057	0.23866	T	9	0.20928231	0.37285	T	0.001563	0.02471	T	0.150	0.39571	.	.	0.241078983079	0.23725	0.5804440348877591	0.57973	0.332720288705	0.35319	0.544475197792	0.45078	T	0.040032	0.25393	T	-0.057566	0.43286	T	-0.320466	0.42524	T	0.2146901740664	0.21195	T	0.807219	0.71908	T	0.02531691	0.01457	0.06087116	0.11664	0.02531691	0.01457	0.06087116	0.11664	-3.854	0.21614	T	.	.	0.127	0.36275	B	.;.;.;.;.;.	.;.;.;.;.;.	2.796809	0.36783	20.3	0.96920574873995491	0.31617	0.84558	0.43641	D	AEFBI	0.253612	0.37307	N	-0.278093749289238	0.29995	1.668494	-0.0730372287814144	0.36509	2.125614	0.965940508322886	0.28867	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	3.62	0.40616	2.164000	0.42013	2.163000	0.30996	-0.178000	0.10482	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6827:0.0:0.3173	7.102	0.24523	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1559.43	37	chr1	27332098	.	C	T	1559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.488;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.357;SOR=0.694	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1571,0,1925	9	0	1	0
chr1	35746954	35746954	G	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon14:c.C2474A:p.A825D,CLSPN:NM_001330490:exon15:c.C2666A:p.A889D,CLSPN:NM_022111:exon15:c.C2666A:p.A889D	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00764341559897	.	0.000599042	7.413e-05	0	0	0	0	0	0	0.0005	7.76e-05	12	154602	rs534927658	3.626e-05	3.625e-05	2.45e-05	4.813e-05	0.0009	2.828e-05	2.565e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	6.295e-06	9.935e-05	0.0004	4.597e-05	4.593e-05	5.14e-05	4.028e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	4.812e-05	0	0	0	0	0	0	0	0	0.0010	0.061	0.61437	T	0.222	0.34477	T	0.256	0.35064	B	0.058	0.27859	B	0.012656	0.29101	N	0.406109	0.730193	0.33710	D	0.805	0.20218	L	1.68	0.27184	T	-1.78	0.43149	N	0.167	0.19995	-1.0254	0.21952	T	0.051	0.21728	T	10	0.020097435	0.00458	T	0.007643	0.20272	T	0.040	0.10527	0.22	0.14224	0.102598925029	0.09809	0.20164741232760422	0.20081	0.138008884758	0.15561	0.38619530201	0.23132	T	0.018607	0.14973	T	-0.505654	0.00531	T	-0.60332	0.12534	T	0.0444744267734707	0.04506	T	0.671533	0.28809	T	0.22756429	0.45460	0.3683398	0.62126	0.22756429	0.45460	0.3683398	0.62125	-3.939	0.22888	T	.	.	0.098	0.21428	B	.;.;.;.	.;.;.;.	3.318068	0.45624	22.2	0.99252396540917254	0.56924	0.96824	0.71137	D	AEFDBI	0.437166	0.49708	N	0.0574567241906632	0.44486	2.721787	0.216023813836379	0.50737	3.262537	0.998677923555027	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	6.09	5.17	0.70848	4.866000	0.62702	6.917000	0.56917	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8703:0.1297	16.838	0.85827	207	0.91931	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2817.43	33	chr1	35746954	.	G	T	2817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.378;DP=526;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/1:91,116:207:99:2829,0,2280	9	0	1	0
chr1	36178424	36178424	G	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.G1603T:p.A535S,MAP7D1:NM_018067:exon10:c.G1714T:p.A572S,MAP7D1:NM_001286366:exon11:c.G1618T:p.A540S	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00880160566495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	2.736e-06	0	5.518e-06	0.0004	6.4e-07	4.3e-07	7.056e-05	2.942e-05	0	0	0	0	0	0.0004	9.001e-07	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.34621	T	0.363	0.18125	T	0.419	0.40609	B	0.275	0.40079	B	0.001694	0.38271	N	0.000000	1	0.81001	D	1.79	0.46772	L	2.64	0.12780	T	-1.01	0.28906	N	0.218	0.24385	-0.9949	0.31326	T	0.022	0.09238	T	10	0.10526258	0.19447	T	0.008802	0.23221	T	0.041	0.10877	0.175	0.08135	0.161926535498	0.15789	0.1592408061750861	0.15845	0.431555471661	0.43355	0.425890386105	0.28647	T	0.006707	0.06137	T	-0.237887	0.15619	T	-0.579484	0.14592	T	0.210925922063062	0.21001	T	0.848715	0.53056	T	0.079965174	0.18299	0.0939751	0.22222	0.079965174	0.18298	0.0939751	0.22221	-3.861	0.21794	T	.	.	0.085	0.10062	B	.;.;.	.;.;.	2.910457	0.38601	20.8	0.98677189039939472	0.44554	0.85996	0.45198	D	AEFDBCI	0.145189	0.26834	N	-0.397833627590146	0.25546	1.387534	-0.382412573233495	0.25522	1.404013	0.999973243865281	0.50053	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	2.59	0.30091	1.091000	0.30526	3.192000	0.36708	0.676000	0.76740	0.208000	0.24400	1.000000	0.68203	0.354000	0.25750	0.0963:0.1568:0.7469:0.0	9.024	0.35380	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	695.43	34	chr1	36178424	.	G	T	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.202;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.33;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:36178424_G_T:707,0,1787:36178424	9	0	1	0
chr1	36178425	36178425	C	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.C1604T:p.A535V,MAP7D1:NM_018067:exon10:c.C1715T:p.A572V,MAP7D1:NM_001286366:exon11:c.C1619T:p.A540V	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00952563922711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	2.736e-06	0	4.138e-06	0.0004	5.5e-07	1.5e-07	7.048e-05	2.939e-05	0	0	0	0	0	0.0004	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.57480	D	0.14	0.34959	T	0.59	0.44504	P	0.275	0.40079	B	0.001694	0.38271	N	0.000000	0.550373	0.81001	D	1.79	0.46772	L	2.54	0.13916	T	-1.57	0.42575	N	0.138	0.13626	-1.0796	0.07426	T	0.028	0.11882	T	10	0.13770357	0.26194	T	0.009526	0.24947	T	0.059	0.16972	0.249	0.18602	0.102598925029	0.09809	0.19402327189147608	0.19320	0.526218639335	0.50253	0.45193707943	0.32209	T	0.013469	0.11642	T	-0.172023	0.24929	T	-0.484876	0.23930	T	0.816351711750031	0.47504	D	0.885211	0.61002	D	0.1693656	0.37448	0.17590159	0.40087	0.1693656	0.37448	0.17590159	0.40087	-5.237	0.39774	T	.	.	0.090	0.12702	B	.;.;.	.;.;.	3.816944	0.55095	23.6	0.99871579071747996	0.94902	0.93919	0.59572	D	AEFDBCI	0.481727	0.52290	N	-0.0832575852697836	0.38127	2.228298	-0.0575215193603278	0.37165	2.172503	0.999999999997304	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	3.465000	0.52828	4.795000	0.44928	0.599000	0.40250	0.248000	0.24829	1.000000	0.68203	0.359000	0.25863	0.0:1.0:0.0:0.0	16.315	0.82749	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	695.43	34	chr1	36178425	.	C	T	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.23;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:36178424_G_T:707,0,1787:36178424	9	0	1	0
chr1	39310999	39310999	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon25:c.A3284G:p.E1095G	.	430	1086	6	0	0	6	0.00275482	0.8309	0.846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.23801608769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1008774166	5.483e-06	5.472e-06	2.727e-06	8.267e-06	0.0007	2.36e-06	1.71e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.7e-06	0	1.165e-05	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.048	0.76473	D	0.907	0.50062	P	0.574	0.49998	P	.	.	.	.	0.944403	0.41895	D	.	.	.	-0.29	0.88533	T	-6.43	0.93366	D	0.524	0.59053	0.763	0.93952	D	0.800	0.93248	D	9	0.7536801	0.75823	D	0.238016	0.88569	D	0.662	0.87381	0.261	0.20473	0.86476991348	0.86345	0.26161540624014595	0.26074	.	.	0.509648442268	0.40174	T	0.172124	0.88079	T	0.38793	0.89203	D	0.319458	0.89067	D	0.988248679572791	0.78603	D	0.959604	0.87634	D	0.4489126	0.63972	0.6944314	0.82011	0.4489126	0.63972	0.6944314	0.82012	-8.965	0.67659	D	.	.	0.252	0.48654	B	.;.;.;.;.;.	.;.;.;.;.;.	4.405645	0.68111	25.2	0.99916924930059536	0.98449	0.99886	0.99947	D	AEFBI	0.917979	0.88639	D	0.767122628802243	0.84016	8.171224	0.763115421097482	0.87136	9.118418	0.999999988731413	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.322000	0.95579	11.248000	0.90647	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.873	0.78922	570	0.70478	.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	438.43	33	chr1	39310999	.	A	G	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.99;DP=329;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.446;SOR=0.432	GT:AD:DP:GQ:PL	0/1:18,17:35:99:450,0,544	9	0	1	0
chr1	40307755	40307755	C	A	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon18:c.G902T:p.G301V	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	0	225	1	0	0	1	0.00221729	0.0193	0.08	.	1486100	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.887	0.772824508068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372191928	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.964	0.55854	D	0.784	0.57456	P	0.000000	0.84330	D	0.047985	1	0.81001	D	4.495	0.98962	H	-6.29	0.99632	D	-7.58	0.95276	D	0.873	0.87049	1.002	0.97223	D	0.989	0.99701	D	10	0.99255085	0.99791	D	0.772825	0.98205	D	0.887	0.96725	0.869	0.96265	0.973521263946	0.97323	0.9417514987636503	0.94156	1.00163694838	0.74428	0.717937231064	0.69746	T	0.401803	0.75900	T	0.496798	0.94191	D	0.475839	0.94114	D	0.999542832374573	0.97846	D	0.989957	0.96858	D	0.9298715	0.94224	0.8306375	0.90226	0.9298715	0.94225	0.8306375	0.90226	-14.464	0.94467	D	.	.	0.640	0.70507	P	.	.	3.723659	0.53221	23.3	0.97556424223569482	0.34598	0.98706	0.85820	D	AEFDBI	0.762252	0.69972	D	0.785788468520018	0.85207	8.508282	0.667844402789374	0.79948	7.191116	0.999995534054997	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	5.410000	0.66123	7.572000	0.60737	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:1.0:0.0:0.0	17.191	0.86761	413	0.81939	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1349.43	34	chr1	40307755	.	C	A	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.574;DP=409;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.24;ReadPosRankSum=-1.065;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,37:74:99:0|1:40307755_C_A:1361,0,1433:40307755	9	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	289.49	4	chr1	41382209	.	C	CGGGACGCCCGCCTACTTCGGCGGCTG	289.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=86;ExcessHet=0.2348;FS=11.139;InbreedingCoeff=-0.1289;MLEAC=1;MLEAF=0.05;MQ=59.31;MQRankSum=0;QD=18.09;ReadPosRankSum=0.938;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,6:12:99:0|1:41382209_C_CGGGACGCCCGCCTACTTCGGCGGCTG:234,0,234:41382209	9	0	1	0
chr1	43156285	43156285	G	A	exonic	FAM183A	.	stopgain	FAM183A:NM_001101376:exon4:c.G377A:p.W126X	.	.	.	.	.	.	.	.	.	.	.	1325538	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0018	0.000399361	0.0009	0.0001	0.0003	0	0.0006	0.0013	0	0.0005	0.0009314	144	154602	rs149435229	0.0016	0.0016	0.0017	0.0016	0.0019	0.0016	0.0015	0.0019	0.0018	0.0002	0.0006	7.652e-05	0	0.0005	0.0003	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0002	0	0	0.0006	0	0.0024	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.40652	N	0.000000	0.980041	0.39625	D	.	.	.	.	.	.	.	.	.	0.089	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253972	0.78971	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	7.648845	0.96726	36	0.97406878149552589	0.33805	0.84425	0.43507	D	AEFDGBI	0.038151	0.05356	N	0.604688180851144	0.73471	5.971443	0.395382275877115	0.61278	4.325893	0.824809765041219	0.24588	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.07	4.07	0.46726	2.644000	0.46279	4.214000	0.42550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	12.070	0.52912	435	0.80441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1058.43	33	chr1	43156285	.	G	A	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.255;SOR=0.735	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1070,0,948	9	0	1	0
chr1	43930190	43930190	G	A	exonic	ST3GAL3	.	nonsynonymous SNV	ST3GAL3:NM_001270462:exon8:c.G662A:p.R221H,ST3GAL3:NM_001270461:exon9:c.G755A:p.R252H,ST3GAL3:NM_174966:exon10:c.G803A:p.R268H,ST3GAL3:NM_001270460:exon11:c.G1004A:p.R335H,ST3GAL3:NM_001363573:exon11:c.G965A:p.R322H,ST3GAL3:NM_174969:exon11:c.G1049A:p.R350H,ST3GAL3:NM_001270459:exon12:c.G1007A:p.R336H,ST3GAL3:NM_006279:exon12:c.G1097A:p.R366H,ST3GAL3:NM_174964:exon12:c.G1142A:p.R381H,ST3GAL3:NM_174971:exon12:c.G1211A:p.R404H,ST3GAL3:NM_174963:exon13:c.G1304A:p.R435H,ST3GAL3:NM_174968:exon13:c.G1259A:p.R420H	Epileptic encephalopathy, early infantile, 15, Autosomal recessive;Mental retardation, autosomal recessive 12, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	206817	not_specified|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0211494722741	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs572958701	3.01e-05	3.01e-05	2.042e-05	3.988e-05	0.0004	2.282e-05	2.032e-05	0.0002	0.0001	2.987e-05	2.236e-05	7.652e-05	2.519e-05	0	0.0004	1.169e-05	4.969e-05	0.0002	1.313e-05	1.312e-05	1.284e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.416e-05	0	0	0	0.0002	0.155	0.32769	T	0.069	0.50514	T	0.006	0.15093	B	0.003	0.16012	B	0.028253	0.25631	N	0.415063	1	0.20249	N	.	.	.	1.56	0.65006	T	-0.74	0.20791	N	0.232	0.26111	-0.9352	0.43364	T	0.142	0.46294	T	9	0.056435257	0.06326	T	0.021149	0.43873	T	0.021	0.04004	0.62	0.75461	0.652461687722	0.64956	.	.	0.719543112965	0.62140	0.226073414087	0.01690	T	0.097858	0.40111	T	-0.278459	0.10831	T	-0.43511	0.29355	T	0.289073288440704	0.24551	T	0.775622	0.56644	T	0.01991817	0.00534	0.026841143	0.00797	0.01991817	0.00534	0.026841143	0.00796	-4.215	0.32347	T	0.17744362050500495	0.22694	0.079	0.26042	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.039193	0.14197	10.77	0.96700769070920733	0.30773	0.03873	0.09239	N	AEFGBCIJ	0.069104	0.13663	N	-0.937332622458763	0.09978	0.474737	-0.965098834218254	0.10575	0.5334674	0.999938417842289	0.46732	0.743674	0.98306	0	0.630245	0.54622	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	4.5	-2.07	0.06873	0.040000	0.13791	-0.543000	0.08571	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.4454:0.0:0.5546:0.0	11.032	0.46995	143	0.94301	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1542.43	43	chr1	43930190	.	G	A	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.454;DP=485;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.297;SOR=0.896	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1554,0,1308	9	0	1	0
chr1	46511063	46511063	T	A	exonic	DMBX1	.	nonsynonymous SNV	DMBX1:NM_147192:exon3:c.T477A:p.D159E,DMBX1:NM_172225:exon5:c.T462A:p.D154E	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0913191228614	.	.	0.0004	0	0	0	0	0.0003	0	0.0015	0.0003105	48	154602	rs200899250	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	4.473e-05	0.0019	0	0	0.0012	0.0001	0.0005	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0005	0.0023	0	0	0.0034	7.35e-05	0	0.0015	0.565	0.06282	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.084077	0.20717	N	0.553031	0.999731	0.20771	N	-0.205	0.04094	N	-3.07	0.92938	D	0.11	0.05706	N	0.086	0.07673	-0.6266	0.63714	T	0.393	0.74656	T	10	0.006982118	0.00159	T	0.091319	0.75684	D	0.211	0.50185	0.158	0.06178	0.344740032716	0.34089	0.2479999156111008	0.24713	0.32656759674	0.34803	0.417535930872	0.27499	T	0.077742	0.35726	T	-0.509524	0.00505	T	-0.523687	0.19922	T	0.00951277754141228	0.00123	T	0.579842	0.22366	T	0.031391006	0.02970	0.034634586	0.02566	0.031391006	0.02969	0.034634586	0.02566	-2.896	0.09264	T	.	.	0.075	0.05360	B	.;.	.;.	0.066546	0.04760	1.382	0.74093178379257119	0.10567	0.10295	0.15841	N	AEFBI	0.121889	0.23677	N	-1.31706171184087	0.03480	0.15551	-1.22721476300897	0.05476	0.2610475	0.0132203857542701	0.12433	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.32	-0.24	0.12403	-0.262000	0.08706	-1.628000	0.05030	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.1386:0.4024:0.1542:0.3048	1.561	0.02438	85	0.96447	.;.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1040.43	34	chr1	46511063	.	T	A	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.691;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1052,0,1006	9	0	1	0
chr1	47068677	47068677	G	T	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon2:c.G233T:p.C78F	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00343735832487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.04289	T	0.695	0.05825	T	0.998	0.73220	D	0.942	0.67772	D	0.029331	0.25470	U	0.305869	0.996905	0.22861	N	1.87	0.49600	L	-0.31	0.68030	T	-2.02	0.46503	N	0.426	0.46555	-0.8303	0.53282	T	0.265	0.63630	T	10	0.31479478	0.48917	T	0.003437	0.07755	T	0.168	0.42943	0.255	0.19533	0.483670899158	0.47999	0.3433297364309384	0.34245	0.0796842656283	0.08968	0.365582019091	0.20196	T	0.015771	0.13166	T	-0.0564041	0.43466	T	-0.318797	0.42706	T	0.649656653404236	0.38447	D	0.158684	0.01414	T	0.19412911	0.41151	0.14794268	0.34991	0.19412911	0.41151	0.14794268	0.34990	-3.807	0.20909	T	.	.	0.135	0.29255	B	.	.	2.814133	0.37057	20.4	0.82719912944435248	0.14339	0.90590	0.51892	D	AEFGBI	0.256679	0.37556	N	0.0156972215958806	0.42570	2.567372	-0.0814783398956545	0.36155	2.100578	1.81307151160965E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	2.819000	0.47749	3.158000	0.36555	0.487000	0.22268	0.995000	0.38783	0.964000	0.29435	0.017000	0.10941	0.0:0.0:1.0:0.0	9.276	0.36859	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	.	.	.	.	.	.	.	.	0.05	1217.43	38	chr1	47068677	.	G	T	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.261;DP=447;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.311;SOR=0.481	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1229,0,1762	9	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4519.12	9	chr1	50419106	.	G	*	4519.12	.	AC=4;AF=0.2;AN=20;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.68;QD=26.27;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:23:99:1|0:50419101_CCGGCGG_C:969,320,360:50419101	6	0	4	0
chr1	52238481	52238481	G	A	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1064A:p.C355Y,ZFYVE9:NM_007324:exon4:c.G1064A:p.C355Y	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00745861454519	0.0015	0.00119808	0.0017	0.0005	0.0009	0	0.0041	0.0023	0.0011	0.0009	0.00163	252	154602	rs150425258	0.0015	0.0015	0.0014	0.0016	0.0111	0.0015	0.0014	0.0089	0.0081	0.0006	0.0011	0.0161	0	0.0021	0.0111	0.0012	0.0025	0.0011	0.0018	0.0018	0.0018	0.0018	0.0022	0.0016	0.0015	0.0016	0.0014	0.0003	0.0077	0.0022	0.0150	0	0.0031	0.0102	0.0018	0.0033	0.0008	0.053	0.41096	T	0.394	0.16134	T	0.148	0.30574	B	0.049	0.31143	B	0.848682	0.07043	N	1.077970	1	0.08975	N	0.895	0.22405	L	0.8	0.48769	T	-1.74	0.41239	N	0.287	0.40264	-1.0194	0.23910	T	0.062	0.25815	T	10	0.0066120327	0.00150	T	0.007459	0.19792	T	0.036	0.09122	.	.	0.128874641272	0.12493	0.19580028617862139	0.19497	0.191457487141	0.21472	0.302525669336	0.10778	T	0.009153	0.08348	T	-0.452483	0.01092	T	-0.43	0.29935	T	0.010937583888807	0.00157	T	0.529847	0.17555	T	0.06562438	0.14042	0.09003683	0.21091	0.06562438	0.14041	0.09003683	0.21090	-3.876	0.21943	T	.	.	0.070	0.17573	B	.;.;.	.;.;.	1.239124	0.16346	12.48	0.67762937216443309	0.08452	0.26054	0.22881	N	AEFDGBCI	0.072578	0.14489	N	-0.574075614779124	0.19735	1.035197	-0.577896067599742	0.20069	1.079664	0.999999986388764	0.74766	0.730579	0.87903	0	0.588066	0.40923	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	4.88	0.501	0.16130	1.142000	0.31152	1.584000	0.27491	0.676000	0.76740	0.899000	0.31403	0.356000	0.24496	0.581000	0.30918	0.2596:0.2835:0.4569:0.0	5.226	0.14714	335	0.86220	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013092	0.005051	0.016304	0.011696	0.000000	0.025862	0.009146	0.003788	0.05	1649.43	34	chr1	52238481	.	G	A	1649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.022;SOR=0.76	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1661,0,1491	9	0	1	0
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	79.47	45	chr1	77935995	.	G	A	79.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.099;DP=276;ExcessHet=0;FS=20.836;InbreedingCoeff=-0.056;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=-0.956;SOR=4.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,8:27:91:0|1:77935995_G_A:91,0,607:77935995	9	0	1	0
chr1	81990481	81990481	G	T	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3548T:p.G1183V,ADGRL2:NM_001297704:exon21:c.G3548T:p.G1183V,ADGRL2:NM_001330645:exon21:c.G3587T:p.G1196V,ADGRL2:NM_001366002:exon21:c.G3548T:p.G1183V,ADGRL2:NM_001350698:exon23:c.G3728T:p.G1243V,ADGRL2:NM_001366005:exon24:c.G3746T:p.G1249V,ADGRL2:NM_001366006:exon24:c.G3746T:p.G1249V,ADGRL2:NM_001366003:exon28:c.G3728T:p.G1243V,ADGRL2:NM_001366004:exon28:c.G3728T:p.G1243V	.	425	1055	42	0	0	42	0.0195167	.	.	.	3211183	ADGRL2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.362	.	0.0008	0.00259585	0.0021	9.61e-05	0.0005	0	0	0.0013	0.0055	0.0091	0.0018305	283	154602	rs143448377	0.0014	0.0014	0.0011	0.0016	0.0102	0.0013	0.0013	0.0083	0.0081	0.0001	0.0008	0.0030	2.519e-05	9.36e-05	0.0102	0.0008	0.0020	0.0088	0.0010	0.0010	0.0009	0.0011	0.0091	0.0009	0.0008	0.0070	0.0062	0.0002	0	0.0010	0.0012	0.0002	9.414e-05	0.0102	0.0010	0.0028	0.0091	0.001	0.78490	D	0.05	0.48594	T	0.995	0.67487	D	0.929	0.66367	D	0.000338	0.45700	D	0.187285	1	0.81001	D	.	.	.	-0.46	0.70597	T	-4.03	0.76740	D	0.684	0.70878	-0.8069	0.54736	T	0.191	0.54359	T	10	0.0074394643	0.00169	T	.	.	.	0.539	0.80723	.	.	0.082315109003	0.07666	0.4814075198055706	0.48060	0.567196384469	0.52991	0.55849480629	0.47055	T	0.067859	0.82202	T	-0.247787	0.14371	T	-0.122308	0.61613	T	0.141194857536656	0.16377	T	0.914708	0.73561	D	0.56956995	0.71037	0.5168769	0.72086	0.56956995	0.71038	0.5168769	0.72087	-3.675	0.22542	T	.	.	0.162	0.37633	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.611038	0.51059	23.0	0.99109637766004166	0.52699	0.92818	0.56620	D	AEFGBCI	0.951242	0.96562	D	0.221703935337338	0.52252	3.400531	0.261948915020974	0.53333	3.502685	0.999349580085339	0.39222	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	4.6	0.56512	7.460000	0.79850	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.1392:0.8607:0.0	16.018	0.80255	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.006793	0.014620	0.050000	0.017241	0.015244	0.011364	0.1	3669.14	33	chr1	81990481	.	G	T	3669.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.601;DP=623;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.71;SOR=0.702	GT:AD:DP:GQ:PL	0/1:106,68:174:99:1590,0,2767	8	0	2	0
chr1	81990915	81990915	C	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.C3982G:p.P1328A,ADGRL2:NM_001297704:exon21:c.C3982G:p.P1328A,ADGRL2:NM_001330645:exon21:c.C4021G:p.P1341A,ADGRL2:NM_001366002:exon21:c.C3982G:p.P1328A,ADGRL2:NM_001350698:exon23:c.C4162G:p.P1388A,ADGRL2:NM_001366005:exon24:c.C4180G:p.P1394A,ADGRL2:NM_001366006:exon24:c.C4180G:p.P1394A,ADGRL2:NM_001366003:exon28:c.C4162G:p.P1388A,ADGRL2:NM_001366004:exon28:c.C4162G:p.P1388A	.	438	1046	37	1	0	39	0.0183013	.	.	.	3210903	ADGRL2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0008	0.00239617	0.0018	9.617e-05	0.0005	0	0	0.0012	0.0055	0.0076	0.0016171	250	154602	rs142267708	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0072	0.0070	0.0001	0.0008	0.0030	0	9.361e-05	0.0087	0.0008	0.0019	0.0077	0.0009	0.0009	0.0008	0.0009	0.0077	0.0008	0.0007	0.0057	0.0051	0.0002	0	0.0009	0.0012	0.0002	9.407e-05	0.0102	0.0009	0.0024	0.0077	0.375	0.18061	T	0.206	0.27056	T	0.128	0.27003	B	0.075	0.28327	B	0.159877	0.17697	N	0.561955	1	0.81001	D	.	.	.	-0.42	0.70717	T	-2.27	0.50666	N	0.302	0.34120	-0.9602	0.39143	T	0.114	0.40650	T	10	0.0053347647	0.00117	T	.	.	.	0.112	0.31546	.	.	0.082315109003	0.07666	0.4140615702400013	0.41322	0.11031533871	0.12446	0.379887998104	0.22241	T	0.056903	0.80086	T	-0.416679	0.01797	T	-0.366741	0.37271	T	0.0454788217630323	0.04690	T	0.911709	0.69400	D	0.048075262	0.08320	0.07846932	0.17579	0.048075262	0.08320	0.07846932	0.17578	-4.424	0.32472	T	.	.	0.079	0.11461	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.688237	0.21508	15.23	0.84900520384378553	0.15565	0.43642	0.27143	N	AEFBCI	0.589979	0.58665	D	0.00965783698767059	0.42293	2.545568	-0.00654706581580577	0.39417	2.336899	0.999451034309693	0.39788	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.688000	0.61403	4.927000	0.46095	0.599000	0.40250	0.296000	0.25288	0.578000	0.25607	0.855000	0.40485	0.0:1.0:0.0:0.0	18.884	0.92338	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.006793	0.011696	0.050000	0.017241	0.009146	0.011364	0.1	3478.14	33	chr1	81990915	.	C	G	3478.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.88;DP=592;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.267;SOR=0.67	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1769,0,2121	8	0	2	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	358.95	87	chr1	85158755	.	A	G	358.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.747;DP=688;ExcessHet=0.7463;FS=75.313;InbreedingCoeff=-0.2081;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.195;SOR=8.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,20:80:99:0|1:85158755_A_G:191,0,1542:85158755	7	0	3	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	0/1:60,12:77:77:.:.:128,0,1556:.	3	0	7	0
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.016304	0.002924	0.050000	0.017241	0.006098	0.015152	0.1	2130.14	34	chr1	86489017	.	A	G	2130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.151;DP=456;ExcessHet=0.2348;FS=5.225;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.501;SOR=0.474	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1265,0,1103	8	0	2	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	1/1:0,231:231:99:.:.:9835,696,0:.	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|1:81,26:107:99:0|1:99884396_T_C:479,0,2765:99884396	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|1:84,23:107:99:0|1:99884396_T_C:154,0,3102:99884396	5	0	5	0
chr1	109251971	109251971	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon1:c.C1892T:p.T631M	.	415	1101	6	0	0	6	0.00271739	.	.	.	731546	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.249	0.0084220510358	0.0033	0.00119808	0.0039	0.0013	0.0016	0.0001	0.0014	0.0061	0.0033	0.0015	0.0041655	644	154602	rs41279706	0.0053	0.0053	0.0054	0.0052	0.0064	0.0052	0.0052	0.0062	0.0062	0.0008	0.0024	0.0001	7.557e-05	0.0019	0.0040	0.0064	0.0050	0.0017	0.0034	0.0034	0.0035	0.0033	0.0057	0.0032	0.0031	0.0053	0.0051	0.0011	0	0.0029	0	0.0004	0.0021	0	0.0057	0.0028	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999927	0.51308	D	2.295	0.65404	M	4.08	0.03003	T	-4.15	0.75297	D	0.798	0.79406	-1.1757	0.00437	T	0.029	0.12453	T	9	0.023953468	0.00643	T	0.008422	0.22282	T	0.249	0.55752	.	.	0.526083527127	0.52256	0.444074245375542	0.44325	1.21388553281	0.80903	0.695509850979	0.66496	T	0.414316	0.76791	T	-0.263966	0.12439	T	-0.143984	0.59770	T	0.0311747803452138	0.02174	T	0.872813	0.58002	D	0.33937046	0.56229	0.34981853	0.60601	0.33937046	0.56229	0.34981853	0.60601	-9.774	0.72547	D	0.2583078757250682	0.34901	0.085	0.10400	B	.	.	5.225226	0.87703	29.3	0.99883443126596039	0.95892	0.88632	0.48651	D	AEFBCI	0.476490	0.51988	N	0.739437953857987	0.82215	7.708061	0.696107921546824	0.82082	7.680004	0.99999999896488	0.74766	0.736574	0.97449	0	0.626922	0.53725	0	0.732669	0.93749	0	0.616125	0.45549	0	.	.	4.95	4.95	0.64894	3.381000	0.52188	4.105000	0.41886	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:0.8625:0.1375:0.0	15.587	0.76240	764	0.49969	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	3738.43	172	chr1	109251971	.	C	T	3738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.05;DP=1837;ExcessHet=0;FS=0.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.103;SOR=0.729	GT:AD:DP:GQ:PL	0/1:156,138:294:99:3750,0,3704	9	0	1	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05	2435.43	33	chr1	109608722	.	C	T	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/1:98,98:196:99:2447,0,2184	9	0	1	0
chr1	109689279	109689279	T	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.T314C:p.M105T,GSTM1:NM_146421:exon5:c.T314C:p.M105T	.	982	537	0	3	0	6	0.00555556	.	.	.	695968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	0.00678492829244	.	.	3.588e-05	0	0	0	0	0	0.0049	0	5.17e-05	8	154602	rs202002774	5.605e-06	0.0016	5.601e-06	5.609e-06	3.859e-05	1.31e-06	8.9e-07	6.4e-06	2.39e-06	0	0	0	0	0	0	3.849e-06	0	3.859e-05	3.734e-05	0.0034	2.426e-05	5.114e-05	0.0003	9.92e-06	4.75e-06	4.63e-05	1.915e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	0.057	0.39097	T	0.284	0.22084	T	0.773	0.44016	P	0.459	0.46380	P	0.000002	0.62929	U	0.055508	0.989061	0.81001	D	3.345	0.91022	M	4.54	0.03809	T	-5.25	0.84035	D	0.412	0.49146	-1.0963	0.04569	T	0.014	0.05465	T	10	0.3916999	0.54938	T	0.006785	0.17925	T	0.162	0.41843	.	.	0.221734844693	0.21761	0.5243859957062466	0.52362	1.16759706748	0.79672	0.455572098494	0.32704	T	0.314375	0.68606	T	-0.100377	0.36361	T	-0.381961	0.35493	T	0.258686060816388	0.23258	T	0.424358	0.12156	T	0.74832326	0.80771	0.5330875	0.73020	0.74832326	0.80772	0.5330875	0.73021	-6.657	0.62168	T	.	.	0.286	0.51840	B	.;.;.;.;.	.;.;.;.;.	1.642350	0.20957	14.99	0.69312899407550344	0.08932	0.77746	0.38263	D	AEFGBI	0.250440	0.37048	N	-0.312240552772623	0.28683	1.584075	-0.430811864685018	0.24098	1.317746	0.846920786302177	0.24971	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.02	0.25641	1.663000	0.37045	-0.229000	0.10694	0.660000	0.55035	1.000000	0.71638	0.001000	0.17328	0.021000	0.11733	0.0:0.1286:0.0:0.8714	6.059	0.19054	824	0.40336	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	chr1:110231901	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	76.67	.	chr1	109689279	.	T	C	76.67	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=29.25;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	5	1	0	4
chr1	109689287	109689288	CA	-	exonic	GSTM1	.	frameshift deletion	GSTM1:NM_000561:exon5:c.322_323del:p.H108Yfs*13,GSTM1:NM_146421:exon5:c.322_323del:p.H108Yfs*13	.	988	531	0	3	0	6	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183423000	2.809e-06	0.0005	0	5.622e-06	3.859e-06	4.7e-07	1.8e-07	6.4e-07	2.4e-07	0	0	0	0	0	0	3.859e-06	0	0	2.475e-05	0.0023	0	5.095e-05	0.0001	4.11e-06	1.54e-06	.	.	0	0	0.0001	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	76.62	.	chr1	109689286	.	CCA	C	76.62	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=30.26;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	5	1	0	4
chr1	109689289	109689289	-	GG	exonic	GSTM1	.	frameshift insertion	GSTM1:NM_000561:exon5:c.324_325insGG:p.M109Gfs*6,GSTM1:NM_146421:exon5:c.324_325insGG:p.M109Gfs*6	.	989	530	0	3	0	6	0.00562852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241704212	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.729e-05	0.0023	0	7.672e-05	0.0003	9.9e-06	4.75e-06	4.625e-05	1.913e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	76.62	.	chr1	109689289	.	T	TGG	76.62	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=26.12;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	5	1	0	4
chr1	109689300	109689300	G	T	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.G335T:p.G112V,GSTM1:NM_146421:exon5:c.G335T:p.G112V	.	990	529	0	3	0	6	0.0056391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00254084323904	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1179816349	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.48e-05	0.0020	2.416e-05	2.547e-05	0.0001	4.12e-06	1.54e-06	.	.	3.525e-05	0	0.0001	0	0	0	0	0	0	0	0.972	0.02568	T	1.0	0.05727	T	0.001	0.07471	B	0.006	0.12133	B	0.193539	0.16783	N	0.517604	1	0.08975	N	-0.695	0.01866	N	3.96	0.03624	T	1.55	0.01787	N	0.221	0.24758	-1.0500	0.14397	T	0.001	0.00222	T	10	0.024888337	0.00701	T	0.002541	0.05093	T	0.136	0.36778	0.372	0.38340	0.0846915920261	0.08053	0.37431931498027177	0.37345	1.22941327989	0.81299	0.297374427319	0.10010	T	0.025902	0.19278	T	-0.263541	0.12489	T	-0.616335	0.11475	T	0.0328750871121883	0.02450	T	0.50475	0.19406	T	0.15011089	0.34189	0.087273456	0.20275	0.15011089	0.34189	0.087273456	0.20275	-3.923	0.33598	T	.	.	0.223	0.45458	B	.;.;.;.;.	.;.;.;.;.	-2.059496	0.00088	0.002	0.40153318879898264	0.02816	0.00211	0.01201	N	AEFDGBI	0.040038	0.05899	N	-2.43387908591156	0.00023	0.0009779129	-2.44140761310503	0.00031	0.001386376	0.995926402434481	0.34412	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	-6.34	0.01808	-2.119000	0.01411	-20.000000	0.00162	-0.841000	0.02792	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2701:0.2566:0.4732	5.922	0.18327	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	76.67	.	chr1	109689300	.	G	T	76.67	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=29.55;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	5	1	0	4
chr1	109689314	109689314	A	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.A349C:p.N117H,GSTM1:NM_146421:exon5:c.A349C:p.N117H	.	995	526	0	1	0	2	0.00189753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0035593207228	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1363667431	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.238e-05	0.0008	0	2.543e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	0.007	0.61437	D	0.027	0.57104	D	0.953	0.54283	P	0.541	0.48869	P	0.726851	0.06346	U	1.173350	1	0.81001	D	2.535	0.73915	M	4.47	0.04228	T	-2.55	0.56787	D	0.214	0.30233	-0.9856	0.33687	T	0.013	0.05321	T	10	0.23352018	0.40371	T	0.003559	0.08123	T	0.164	0.42212	0.534	0.64293	0.224531998449	0.22054	0.4104308232327156	0.40959	1.06697471988	0.76656	0.264495611191	0.05438	T	0.137855	0.47102	T	-0.193259	0.21780	T	-0.51538	0.20763	T	0.415729910135269	0.29532	T	0.352565	0.08297	T	0.33059093	0.55519	0.15954101	0.37203	0.33059093	0.55519	0.15954101	0.37203	-9.012	0.72693	D	.	.	0.111	0.21728	B	.;.;.;.;.	.;.;.;.;.	2.041384	0.25950	16.94	0.9905595212720979	0.51367	0.87273	0.46762	D	AEFDGBI	0.292070	0.40304	N	-0.258970255628518	0.30745	1.71732	-0.390145311047094	0.25288	1.389861	0.799511939276101	0.24161	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.03	0.25714	2.245000	0.42784	2.689000	0.34074	0.750000	0.87069	0.958000	0.33488	0.003000	0.18671	0.004000	0.06068	0.871:0.0:0.129:0.0	6.008	0.18785	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-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	.	.	.	.	.	.	.	.	0.1667	76.67	.	chr1	109689314	.	A	C	76.67	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=29.14;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689314_A_C:90,6,0:109689314	5	1	0	4
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	0/1:88,40:149:61:61,0,1272	0	0	10	0
chr1	117092779	117092779	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon18:c.G2854A:p.E952K	.	422	1084	16	0	0	16	0.00732601	.	.	.	706616	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.500	.	0.0078	0.00479233	0.0072	0.0012	0.0043	0	0.0020	0.0113	0.0066	0.0024	0.0071215	1101	154602	rs41306197	0.0078	0.0078	0.0077	0.0079	0.0121	0.0077	0.0076	0.0099	0.0090	0.0014	0.0050	0.0384	0	0.0015	0.0121	0.0082	0.0099	0.0022	0.0069	0.0069	0.0075	0.0063	0.0096	0.0065	0.0064	0.0090	0.0088	0.0015	0.0636	0.0065	0.0366	0	0.0008	0.0102	0.0096	0.0133	0.0019	0.039	0.42487	D	0.128	0.34959	T	1.0	0.90584	D	0.998	0.88582	D	0.001813	0.37945	N	0.000000	1	0.81001	D	2.91	0.84121	M	-2.29	0.87591	D	-1.37	0.33998	N	0.647	0.65844	0.222	0.86288	D	0.691	0.89345	D	10	0.009188026	0.00208	T	.	.	.	0.500	0.78350	.	.	0.94980648375	0.94927	0.40208463991760734	0.40124	0.774771022593	0.64964	0.594895720482	0.52183	T	0.023315	0.17820	T	-0.230493	0.16584	T	-0.0928324	0.63949	T	0.0267691115987556	0.01512	T	0.935306	0.75759	D	0.1221448	0.28709	0.118917234	0.28704	0.1221448	0.28708	0.118917234	0.28703	-12.071	0.85195	D	.	.	0.270	0.50370	B	.	.	4.847000	0.79187	27.1	0.99905566058912054	0.97651	0.98527	0.83734	D	AEFDGBCIJ	0.901852	0.84905	D	0.630458009251532	0.75108	6.24836	0.56580612014504	0.72504	5.820292	0.999999999999484	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	8.857000	0.91856	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:1.0:0.0	13.794	0.62652	895	0.25842	.	.	.	.	.	.	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	0.015106	0.025253	0.021739	0.002924	0.050000	0.000000	0.009146	0.007576	0.05	2109.43	33	chr1	117092779	.	G	A	2109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.402;DP=491;ExcessHet=0;FS=1.167;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.28;SOR=0.601	GT:AD:DP:GQ:PL	0/1:85,91:176:99:2121,0,2022	9	0	1	0
chr1	119422169	119422169	T	C	exonic	HSD3B2	.	nonsynonymous SNV	HSD3B2:NM_000198:exon4:c.T668C:p.V223A,HSD3B2:NM_001166120:exon4:c.T668C:p.V223A	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.108876548008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.086	0.40909	T	0.815	0.45525	P	0.679	0.53442	P	0.000002	0.62929	D	0.058872	0.999986	0.54805	D	2.67	0.78151	M	-2.59	0.89822	D	-2.93	0.61284	D	0.486	0.52029	0.253	0.86788	D	0.629	0.86985	D	9	0.8173064	0.80959	D	0.108877	0.78560	D	0.682	0.88348	0.814	0.92925	0.999896452263	0.99989	0.5181679192019256	0.51739	0.576694450929	0.53618	0.60534620285	0.53659	T	0.757609	0.93407	D	0.108683	0.65214	D	-0.0816607	0.64782	T	0.964553475379944	0.66993	D	0.714229	0.32652	T	0.39722496	0.60540	0.30491844	0.56520	0.39722496	0.60540	0.30491844	0.56519	-5.316	0.40101	T	0.30838737677218514	0.40616	0.271	0.54041	B	.;.	.;.	4.177712	0.62865	24.5	0.99707693567709055	0.81074	0.96474	0.69319	D	AEFI	0.544154	0.55919	D	0.285675610912907	0.55421	3.706261	0.230980790095606	0.51573	3.338813	0.163765464656093	0.17633	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.98	3.98	0.45383	4.414000	0.59555	4.842000	0.45294	0.366000	0.20181	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.1041:0.0:0.8959	7.169	0.24885	687	0.59234	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1472.43	33	chr1	119422169	.	T	C	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-2.243;SOR=0.704	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1484,0,1857	9	0	1	0
chr1	119967490	119967490	G	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon8:c.C1396A:p.Q466K,NOTCH2:NM_024408:exon8:c.C1396A:p.Q466K	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	138707	not_provided|Hajdu-Cheney_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.490	0.0540084363161	0.0002	0.00159744	0.0012	0	0.0002	0	0	0.0012	0.0011	0.0039	0.0010608	164	154602	rs141935585	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0045	5.975e-05	0.0004	0.0119	7.559e-05	0	0.0024	0.0002	0.0016	0.0051	0.0006	0.0006	0.0006	0.0006	0.0046	0.0005	0.0005	0.0031	0.0026	2.405e-05	0	0.0001	0.0118	0	0	0.0068	0.0003	0.0014	0.0046	0.05	0.39575	D	0.165	0.30926	T	0.997	0.70673	D	0.992	0.80445	D	0.051790	0.22951	N	0.218587	1	0.81001	D	1.54	0.38927	L	-1.54	0.81640	D	-2.89	0.60665	D	0.275	0.31140	-0.2133	0.77327	T	0.470	0.79605	T	10	0.015744537	0.00331	T	0.054008	0.65690	D	0.490	0.77720	.	.	0.794429864761	0.79251	0.8310143140814363	0.83060	0.724846526864	0.62416	0.630724787712	0.57248	T	0.762811	0.93588	D	-0.260944	0.12791	T	-0.147338	0.59479	T	0.0276478020861148	0.01636	T	0.808919	0.45897	T	0.40501353	0.61078	0.21972813	0.46722	0.4237735	0.62342	0.24696754	0.50216	-6.274	0.48516	T	0.16123221376884006	0.19725	0.099	0.16713	B	.;.	.;.	2.909045	0.38583	20.8	0.99497629346689553	0.67859	0.97994	0.78718	D	AEFBI	0.693048	0.65251	D	0.182510541799373	0.50359	3.226697	0.29721799957346	0.55377	3.700765	0.999999999179144	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.78	0.60666	5.468000	0.66473	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8497:0.1503	14.919	0.70467	861	0.33516	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	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2350.43	38	chr1	119967490	.	G	T	2350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.664;DP=486;ExcessHet=0;FS=4.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.358;SOR=0.441	GT:AD:DP:GQ:PL	0/1:81,92:173:99:2362,0,1972	9	0	1	0
chr1	146134258	146134258	G	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon9:c.C1314G:p.D438E,NBPF10:NM_001302371:exon9:c.C1314G:p.D438E	.	432	1070	19	1	0	21	0.00971772	.	.	.	3409357	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381967314	0.0049	0.0064	0.0049	0.0048	0.0088	0.0048	0.0047	0.0066	0.0058	0.0005	0.0046	0.0007	2.522e-05	0.0058	0.0088	0.0054	0.0046	0.0032	0.0042	0.0048	0.0042	0.0042	0.0058	0.0040	0.0039	0.0053	0.0051	0.0011	0	0.0051	0.0009	0.0002	0.0078	0.0102	0.0058	0.0074	0.0035	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	0.39781	T	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.011097819	0.00244	T	.	.	.	.	.	.	.	.	.	0.061565213573734096	0.06096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472753	0.14054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50490	B	.	.	-0.323164	0.02517	0.299	.	.	.	.	.	.	0.030114	0.02969	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.791000	0.04705	.	.	-0.696000	0.04083	0.005000	0.17040	.	.	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	717.43	54	chr1	146134258	.	G	C	717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.06;DP=565;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.28;MQRankSum=-9.777;QD=3.68;ReadPosRankSum=-1.128;SOR=0.755	GT:AD:DP:GQ:PL	0/1:143,52:195:99:729,0,3825	9	0	1	0
chr1	147908652	147908652	C	T	exonic	GJA8	.	nonsynonymous SNV	GJA8:NM_005267:exon2:c.C697T:p.R233W	Cataract 1, multiple types, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.294019697902	0.0002	0.000199681	0.0001	0	0.0007	0	0	2.998e-05	0	0.0002	9.7e-05	15	154602	rs140512440	5.952e-05	5.951e-05	6.126e-05	5.775e-05	0.0005	4.883e-05	4.561e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0003	3.867e-05	0.0001	0.0001	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0002	1.714e-05	1.129e-05	4.88e-06	1.83e-06	0	0	6.538e-05	0	0	0	0	2.94e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.936	0.67150	D	0.000007	0.62929	D	0.065730	0.999997	0.58761	D	2.045	0.56016	M	-4.56	0.97772	D	-2.26	0.50502	N	0.698	0.70263	1.062	0.98396	D	0.907	0.96932	D	10	0.7287819	0.74154	D	0.29402	0.90660	D	0.690	0.88726	.	.	0.92797645703	0.92724	0.860726395076712	0.86036	.	.	0.451628297567	0.32167	T	0.667243	0.90083	D	0.0264538	0.55249	T	0.162133	0.80936	D	0.339203149080276	0.26592	T	0.89951	0.64815	D	0.3365709	0.56005	0.37050173	0.62298	0.3365709	0.56005	0.37050173	0.62298	-5.668	0.43408	T	0.3295728582200184	0.42763	0.099	0.16626	B	.	.	4.530834	0.71121	25.6	0.99877832547744616	0.95491	0.98995	0.89700	D	AEFDBI	0.908584	0.86409	D	0.351339474185347	0.58810	4.055636	0.29695467454901	0.55361	3.699242	0.9999994761575	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	4.962000	0.63395	2.677000	0.33989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:1.0:0.0:0.0	17.139	0.86625	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2480.43	33	chr1	147908652	.	C	T	2480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.76;DP=491;ExcessHet=0;FS=4.353;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-1.651;SOR=1.038	GT:AD:DP:GQ:PL	0/1:86,92:178:99:2492,0,2030	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	0/1:253,56:309:99:814,0,6688	3	0	7	0
chr1	151851098	151851098	G	A	exonic	THEM5	.	nonsynonymous SNV	THEM5:NM_182578:exon3:c.C419T:p.S140L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0147365966189	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs200369753	1.3e-05	1.3e-05	1.089e-05	1.513e-05	8.115e-05	8.31e-06	6.7e-06	3.765e-05	2.662e-05	2.987e-05	0	0	2.519e-05	1.872e-05	0	5.396e-06	4.967e-05	8.115e-05	6.566e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.313	0.13879	T	0.152	0.32249	T	0.996	0.68779	D	0.692	0.53862	P	0.000002	0.62929	D	0.060066	0.63433	0.30671	N	2.485	0.72352	M	2.09	0.20122	T	-1.09	0.28290	N	0.698	0.70263	-1.0877	0.05925	T	0.036	0.15465	T	10	0.6055141	0.67152	D	0.014737	0.35052	T	0.139	0.37390	0.318	0.29581	0.37262878642	0.36876	0.3398375260303536	0.33896	0.378730719423	0.39278	0.474958658218	0.35364	T	0.003366	0.02768	T	-0.181744	0.23478	T	-0.401985	0.33153	T	0.954387187957764	0.64252	D	0.844815	0.52285	T	0.39320245	0.60259	0.124181315	0.29936	0.39320245	0.60259	0.124181315	0.29935	-6.366	0.49244	T	.	.	0.346	0.56317	A	.	.	3.641685	0.51634	23.1	0.99698970098183159	0.80453	0.73129	0.35775	D	AEFDGBI	0.168903	0.29570	N	0.235913486812584	0.52945	3.46588	0.221393259659165	0.51035	3.289717	0.999996792003761	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.91	4.99	0.65942	3.235000	0.51027	8.345000	0.77002	0.648000	0.52827	0.997000	0.40164	1.000000	0.68203	0.260000	0.23518	0.0:0.162:0.838:0.0	12.997	0.58056	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1272.43	34	chr1	151851098	.	G	A	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.638;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1284,0,1021	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|1:146,14:160:99:0|1:152214821_T_A:146,0,5976:152214821	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|1:146,14:160:99:0|1:152214821_T_A:146,0,5976:152214821	4	0	6	0
chr1	152218845	152218845	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2784C:p.Q928H	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00277398207892	.	0.000199681	0.0004	0	8.637e-05	0.0001	0	0.0001	0.0011	0.0021	0.000304	47	154602	rs199549819	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	0	2.236e-05	0	5.04e-05	0	0.0012	8.993e-05	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0015	7.582e-05	6.286e-05	0.0007	0.0005	2.409e-05	0	0	0	0	0	0.0034	0.0001	0	0.0015	0.014	0.53172	D	0.121	0.35840	T	0.995	0.67487	D	0.839	0.60107	P	.	.	.	.	1	0.08975	N	2.215	0.62545	M	4.54	0.01963	T	-1.48	0.36189	N	0.108	0.09349	-0.8849	0.49365	T	0.007	0.02598	T	9	0.022691846	0.00574	T	0.002774	0.05752	T	0.039	0.10176	0.283	0.23961	0.509228182784	0.50563	0.008687222983592115	0.00832	.	.	0.514081060886	0.40794	T	0.019604	0.15585	T	-0.637546	0.00086	T	-0.707582	0.05421	T	0.0308943800628185	0.02129	T	0.304669	0.05813	T	0.06817321	0.14829	0.06522582	0.13188	0.06817321	0.14829	0.06522582	0.13188	-6.271	0.48493	T	.	.	0.190	0.40794	B	.	.	1.155514	0.15440	11.85	0.57709566375960941	0.05829	0.07031	0.13058	N	AEFBI	0.035298	0.04519	N	-0.200597682536222	0.33109	1.874776	-0.400489424023735	0.24982	1.371237	1.05634643418225E-4	0.05123	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.76	2.81	0.31971	-0.145000	0.10248	.	.	-0.307000	0.06116	0.000000	0.06391	.	.	0.042000	0.14466	0.0:0.8868:0.0:0.1132	9.460	0.37943	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4726.43	304	chr1	152218845	.	C	G	4726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.84;DP=2780;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=-1.131;QD=10.65;ReadPosRankSum=0.523;SOR=0.764	GT:AD:DP:GQ:PL	0/1:250,194:444:99:4738,0,6333	9	0	1	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E	Ichthyosis vulgaris, Autosomal dominant	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	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	32705.3	773	chr1	152308312	.	T	C	32705.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.839;DP=3877;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=58.34;MQRankSum=-14.05;QD=9.17;ReadPosRankSum=3.1;SOR=0.685	GT:AD:DP:GQ:PL	0/1:245,261:506:99:6842,0,6282	9	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1527.16	22	chr1	152910506	.	C	*	1527.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=328;ExcessHet=0.6204;FS=2.516;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=55.83;MQRankSum=-0.909;QD=13.76;ReadPosRankSum=-1.266;SOR=1.025	GT:AD:DP:GQ:PL	0/1:17,6:23:99:160,0,572	9	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1110.25	41	chr1	153760378	.	C	G	1110.25	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.62;DP=1190;ExcessHet=2.8389;FS=304.04;InbreedingCoeff=-0.3798;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.05;SOR=11.598	GT:AD:DP:GQ:PL	0/1:55,44:99:99:224,0,624	4	0	5	1
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	0/1:138,52:190:31:31,0,2939	8	0	2	0
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	756.7	39	chr1	156011827	.	G	A	756.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.875;DP=704;ExcessHet=0.7463;FS=223.895;InbreedingCoeff=-0.1843;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=2.76;ReadPosRankSum=-1.04;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,26:109:99:0|1:156011822_G_A:399,0,2829:156011822	7	0	3	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	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	719.43	34	chr1	156930528	.	G	C	719.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.522;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.706;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,30:80:99:731,0,1301	9	0	1	0
chr1	157544364	157544364	T	C	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.A742G:p.T248A,FCRL5:NM_031281:exon5:c.A742G:p.T248A	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00233255892326	0.0002	0.000199681	0.0014	0.0002	0.0059	0	0	0.0005	0.0066	0.0036	0.001119	173	154602	rs150471028	0.0005	0.0005	0.0004	0.0007	0.0037	0.0005	0.0005	0.0034	0.0033	0	0.0023	3.826e-05	0	0.0001	0.0017	0.0003	0.0007	0.0037	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0002	0.0013	0.0010	0	0	0.0003	0	0	0	0	0.0005	0	0.0023	0.312	0.32141	T	0.246	0.23984	T	0.006	0.13644	B	0.007	0.12992	B	0.005592	0.01086	N	3.156860	1	0.08975	N	-0.02	0.05091	N	2.69	0.12268	T	-0.52	0.16187	N	0.039	0.01577	-0.9764	0.35816	T	0.003	0.00897	T	10	0.0052937865	0.00116	T	0.002333	0.04507	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.12379366770929005	0.12305	0.0670969358633	0.07497	0.2436953336	0.03133	T	0.002525	0.01914	T	-0.702593	0.00035	T	-0.784108	0.02331	T	0.0185076876855515	0.00566	T	0.157784	0.02071	T	0.013218225	0.00053	0.012743719	0.00000	0.013218225	0.00053	0.012743719	0.00000	-4.475	0.30705	T	.	.	0.067	0.08802	B	.;.;.	.;.;.	-1.381155	0.00374	0.007	0.35035392882797511	0.02176	0.00710	0.03005	N	AEFBI	0.055559	0.10200	N	-2.12225312794012	0.00114	0.004894654	-2.18613977114946	0.00120	0.005281627	0.998474159038588	0.37033	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.409000	0.01119	-3.779000	0.02542	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2864:0.0881:0.2148:0.4107	1.389	0.02112	840	0.37365	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	1173.43	37	chr1	157544364	.	T	C	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=532;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.522;SOR=0.836	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1185,0,1774	9	0	1	0
chr1	159015883	159015883	G	A	exonic	IFI16	.	nonsynonymous SNV	IFI16:NM_001206567:exon3:c.G277A:p.A93T,IFI16:NM_001376587:exon3:c.G277A:p.A93T,IFI16:NM_001376592:exon3:c.G277A:p.A93T,IFI16:NM_005531:exon3:c.G277A:p.A93T,IFI16:NM_001364867:exon4:c.G277A:p.A93T,IFI16:NM_001376588:exon4:c.G277A:p.A93T,IFI16:NM_001376589:exon4:c.G277A:p.A93T,IFI16:NM_001376591:exon4:c.G277A:p.A93T	.	428	1078	15	1	0	17	0.00782329	.	.	.	2806089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00359428024699	0.0052	0.00239617	0.0054	0.0013	0.0030	0	0.0023	0.0077	0.0066	0.0049	0.005401	835	154602	rs116270651	0.0063	0.0064	0.0063	0.0064	0.0073	0.0062	0.0062	0.0071	0.0071	0.0007	0.0044	0.0003	0	0.0027	0.0043	0.0073	0.0060	0.0049	0.0053	0.0053	0.0055	0.0052	0.0085	0.0050	0.0049	0.0079	0.0077	0.0014	0.0197	0.0067	0	0	0.0019	0.0068	0.0085	0.0080	0.0046	1.0	0.05262	T	1.0	0.05995	T	0.73	0.42641	P	0.263	0.39594	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.03	0.20959	T	1.4	0.03352	N	0.083	0.05929	-1.0226	0.22866	T	0.004	0.01295	T	9	0.004086405	0.00080	T	0.003594	0.08216	T	0.014	0.01968	.	.	0.191931220699	0.18833	0.044521644251599775	0.04396	0.466751589387	0.46072	0.2459654212	0.03355	T	0.001824	0.03242	T	-0.625759	0.00102	T	-0.663674	0.08021	T	0.00388578336838126	0.00041	T	0.320668	0.06474	T	0.018096011	0.00331	0.031434305	0.01732	0.018096011	0.00331	0.031434305	0.01732	-3.758	0.20178	T	.	.	0.066	0.09675	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.392076	0.02242	0.229	0.56921182028626138	0.05656	0.00037	0.00318	N	AEFGBCI	0.024370	0.01498	N	-1.58288373110136	0.01352	0.05892081	-1.59270044912762	0.01699	0.07721843	0.999999767281762	0.74766	0.730579	0.87903	0	0.52208	0.09955	0	0.59043	0.30614	0	0.648885	0.59868	0	.	.	2.7	-0.242	0.12396	-1.397000	0.02617	-3.098000	0.03063	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6094:0.0:0.1503:0.2403	2.325	0.03961	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003027	0.005051	0.002717	0.000000	0.000000	0.000000	0.006173	0.011364	0.05	1154.43	37	chr1	159015883	.	G	A	1154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.247;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.589;SOR=0.751	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1166,0,1316	9	0	1	0
chr1	159205894	159205894	C	T	exonic	ACKR1	.	nonsynonymous SNV	ACKR1:NM_001122951:exon2:c.C461T:p.S154F,ACKR1:NM_002036:exon2:c.C455T:p.S152F	.	425	1081	15	0	1	16	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	.	0.0006	0.00259585	0.0021	0.0002	0.0003	0.0001	0.0002	0.0006	0.0011	0.0122	0.0018499	286	154602	rs147620003	0.0012	0.0012	0.0008	0.0015	0.0129	0.0011	0.0011	0.0123	0.0120	5.974e-05	0.0004	0.0002	2.519e-05	1.876e-05	0.0036	0.0004	0.0016	0.0129	0.0007	0.0007	0.0007	0.0008	0.0108	0.0006	0.0006	0.0084	0.0076	0.0001	0	0.0003	0	0	9.413e-05	0.0068	0.0006	0.0009	0.0108	0.086	0.33753	T	0.196	0.27943	T	0.887	0.48784	P	0.595	0.50587	P	0.306457	0.14508	N	0.506511	0.988358	0.24419	N	0.345	0.11182	N	1.34	0.34841	T	-0.81	0.22294	N	0.189	0.20660	-1.0754	0.08266	T	0.023	0.09696	T	10	0.008168638	0.00185	T	.	.	.	0.127	0.34888	.	.	0.349204839081	0.34528	0.39414579003088923	0.39329	0.0841297862296	0.09485	0.289785712957	0.08891	T	0.135551	0.46743	T	-0.497793	0.00588	T	-0.477434	0.24720	T	0.0270945296656597	0.01557	T	0.956904	0.83579	D	0.074649796	0.16766	0.08336655	0.19101	0.049851336	0.08915	0.09092037	0.21347	-0.764	0.00772	T	0.2587923289367664	0.34963	0.125	0.26263	B	.;.;.;.	.;.;.;.	3.444626	0.47939	22.5	0.99267088559129502	0.57423	0.28566	0.23589	N	AEFDBCI	0.047740	0.08073	N	-0.218723826749293	0.32365	1.824523	-0.143904829437812	0.33644	1.926659	0.992795635449124	0.32971	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.23	2.07	0.26004	0.969000	0.28967	2.470000	0.32893	-0.184000	0.09925	0.916000	0.31843	0.999000	0.35428	0.413000	0.27073	0.0:0.1704:0.5089:0.3206	7.494	0.26648	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1	3146.14	104	chr1	159205894	.	C	T	3146.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.93;DP=507;ExcessHet=0.2348;FS=7.778;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=1.74;SOR=1.209	GT:AD:DP:GQ:PL	0/1:18,52:70:99:1728,0,465	8	0	2	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	0/1:141,67:214:99:619,0,2685	0	0	9	1
chr1	161599670	161599670	C	T	exonic	FCGR2C	.	unknown	UNKNOWN	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002329	36	154602	rs867055986	1.853e-05	3.63e-05	2.185e-05	1.518e-05	0.0004	1.269e-05	1.088e-05	6.149e-05	3.965e-05	0	0.0001	0	0	0	0.0004	1.623e-05	0	1.167e-05	3.534e-05	5.299e-05	4.114e-05	2.918e-05	7.265e-05	1.334e-05	8.51e-06	1.215e-05	6.37e-06	2.708e-05	0	7.265e-05	0	0	0	0	4.577e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.079868704	0.12898	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.0334465	0.46913	T	-0.28582	0.46205	T	.	.	.	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	-0.138058	0.03420	0.623	0.79083217762414237	0.12583	0.00016	0.00195	N	AEFI	0.028309	0.02470	N	.	.	.	.	.	.	2.43240643371598E-4	0.06141	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.058706	0.01089	0	.	.	0.41	-0.82	0.10280	-2.061000	0.01478	-1.350000	0.05649	-2.483000	0.00269	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	365.43	37	chr1	161599670	.	C	T	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.81;DP=382;ExcessHet=0;FS=2.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.34;MQRankSum=-0.636;QD=5.89;ReadPosRankSum=2.3;SOR=1.262	GT:AD:DP:GQ:PL	0/1:45,17:62:99:377,0,1122	9	0	1	0
chr1	167846128	167846128	A	G	exonic	ADCY10	.	nonsynonymous SNV	ADCY10:NM_001167749:exon17:c.T2114C:p.I705T,ADCY10:NM_001297772:exon20:c.T2297C:p.I766T,ADCY10:NM_018417:exon20:c.T2573C:p.I858T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00729502085192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33418	T	0.068	0.44106	T	0.842	0.49745	P	0.257	0.45773	B	0.013807	0.28724	N	0.299531	0.746814	0.29679	N	2.39	0.68882	M	1.54	0.30133	T	-0.81	0.27876	N	0.833	0.82862	-1.0248	0.22148	T	0.073	0.29515	T	9	0.3635782	0.52924	T	0.007295	0.19334	T	0.186	0.46104	0.598	0.72862	0.365509141856	0.36162	0.5452894207360326	0.54454	0.237806744709	0.26327	0.557313978672	0.46888	T	0.057504	0.30584	T	-0.102996	0.35928	T	-0.385723	0.35053	T	0.789324462413788	0.45645	D	0.764224	0.39120	T	0.114207916	0.26965	0.10086195	0.24128	0.114207916	0.26965	0.10086195	0.24127	-4.214	0.26954	T	.	.	0.542	0.66450	A	.;.;.	.;.;.	2.198950	0.28042	17.67	0.99182046900583209	0.54701	0.76887	0.37747	D	AEFDBI	0.322791	0.42518	N	0.295153804627967	0.55902	3.754388	0.355739544196817	0.58855	4.058714	0.960280346607231	0.28479	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	2.218000	0.42530	4.652000	0.44201	0.756000	0.94297	0.956000	0.33378	0.998000	0.33993	0.955000	0.50612	1.0:0.0:0.0:0.0	12.659	0.56164	700	0.57880	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.42	46	chr1	167846128	.	A	G	46.42	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.798;DP=609;ExcessHet=0.2348;FS=223.757;InbreedingCoeff=-0.0877;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.544;SOR=7.978	GT:AD:DP:GQ:PL	0/1:130,30:160:2:2,0,3044	8	0	2	0
chr1	169550696	169550696	G	A	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon9:c.C1340T:p.P447L	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.399480711972	7.7e-05	.	3.298e-05	0	0	0	0	4.498e-05	0	6.058e-05	2.59e-05	4	154602	rs368387623	1.437e-05	1.437e-05	1.361e-05	1.513e-05	2.987e-05	9.23e-06	7.84e-06	5.75e-06	4.55e-06	2.987e-05	0	0	2.52e-05	0	0	1.079e-05	9.935e-05	1.159e-05	2.629e-05	2.627e-05	0	5.382e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.028	0.46513	D	0.08	0.42086	T	0.997	0.70673	D	0.857	0.61067	P	0.002315	0.36806	N	0.302332	0.999991	0.81001	D	2.585	0.75554	M	-5.09	0.98684	D	-7.03	0.93810	D	0.392	0.43320	1.082	0.98947	D	0.938	0.97954	D	9	0.569925	0.65261	D	0.399481	0.93366	D	0.618	0.85144	.	.	0.912855958394	0.91197	0.852963332444918	0.85258	0.381810344723	0.39529	0.591434836388	0.51697	T	0.431246	0.77943	T	0.249648	0.78567	D	0.228483	0.84594	D	0.836836218833923	0.49071	D	0.880112	0.60710	D	0.12226369	0.28735	0.17847614	0.40520	0.12226369	0.28734	0.17847614	0.40519	-5.715	0.43827	T	0.8736941785216383	0.93362	0.652	0.71022	P	.;.	.;.	3.607858	0.50997	23.0	0.99741095185605277	0.83482	0.88234	0.48071	D	AEFGBCI	0.770964	0.70574	D	0.729697727500512	0.81579	7.555479	0.737095285657593	0.85188	8.507144	0.997104245415345	0.35279	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.49	5.49	0.81022	5.365000	0.65866	11.744000	0.95258	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1155:0.0:0.8845:0.0	10.878	0.46133	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	813.43	34	chr1	169550696	.	G	A	813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=389;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.893;SOR=0.88	GT:AD:DP:GQ:PL	0/1:40,33:73:99:825,0,1002	9	0	1	0
chr1	175403578	175403578	T	G	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.A538C:p.N180H	.	415	1091	16	0	0	16	0.00727934	.	.	.	226705	Parkinson_disease|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.015143269266	0.0040	0.00219649	0.0043	0.0014	0.0017	0	0.0006	0.0049	0.0033	0.0099	0.0043208	668	154602	rs61731112	0.0055	0.0055	0.0053	0.0056	0.0103	0.0054	0.0053	0.0098	0.0095	0.0007	0.0020	0.0008	0	0.0006	0.0040	0.0059	0.0049	0.0103	0.0034	0.0034	0.0036	0.0033	0.0108	0.0032	0.0031	0.0085	0.0076	0.0010	0	0.0017	0.0009	0	0.0011	0	0.0056	0.0043	0.0108	0.059	0.37536	T	0.004	0.74150	D	0.943	0.53072	P	0.646	0.52296	P	0.000002	0.62929	D	0.099447	0.991967	0.41520	D	2.635	0.77114	M	-0.23	0.66652	T	-3.04	0.62863	D	0.45	0.53181	-0.3481	0.73608	T	0.333	0.70051	T	10	0.012104988	0.00261	T	0.015143	0.35698	T	0.235	0.53788	.	.	0.680615255321	0.67789	0.30089657972397504	0.30002	0.594975163302	0.54791	0.480174928904	0.36081	T	0.706665	0.91599	D	-0.35142	0.04638	T	-0.270886	0.47730	T	0.0187850564752614	0.00590	T	0.90061	0.65471	D	0.3260392	0.55144	0.29151744	0.55177	0.3260392	0.55144	0.29151744	0.55176	-6.494	0.50240	T	.	.	0.151	0.33342	B	.;.	.;.	4.181553	0.62951	24.5	0.99696345106303663	0.80316	0.99641	0.98258	D	AEFDBI	0.943134	0.94859	D	0.711461017713127	0.80383	7.282298	0.738660711939347	0.85306	8.541781	0.738967395217989	0.23180	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.882000	0.85748	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.206	0.81949	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.017241	0.012195	0.026515	0.05	1505.43	35	chr1	175403578	.	T	G	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.167;DP=411;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.254;SOR=0.996	GT:AD:DP:GQ:PL	0/1:34,56:90:99:1517,0,915	9	0	1	0
chr1	179087996	179087996	C	T	exonic	TOR3A	.	nonsynonymous SNV	TOR3A:NM_022371:exon4:c.C725T:p.P242L	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0974155190817	.	0.000199681	0.0001	0	0	0	0.0003	6.03e-05	0	0.0004	9.06e-05	14	154602	rs546288971	8.006e-05	8.14e-05	2.723e-05	0.0001	0.0008	6.803e-05	6.357e-05	0.0007	0.0006	0	0	0	0	0.0003	0.0005	1.709e-05	0.0001	0.0008	7.221e-05	7.217e-05	3.854e-05	0.0001	0.0006	3.968e-05	3.125e-05	0.0002	8.985e-05	0	0	0	0	0	0.0005	0	4.41e-05	0	0.0006	0.005	0.63226	D	0.011	0.64786	D	0.989	0.62824	D	0.791	0.57754	P	0.000097	0.51296	D	0.174679	1	0.81001	D	3.54	0.93167	H	1.4	0.33630	T	-6.96	0.93509	D	0.234	0.29429	-0.6584	0.62346	T	0.202	0.55933	T	10	0.19838926	0.35807	T	0.097416	0.76770	D	0.227	0.52620	0.573	0.69695	0.570790795014	0.56744	0.6678901037297662	0.66727	0.303287657907	0.32650	0.439022421837	0.30443	T	0.303937	0.67627	T	-0.352006	0.04602	T	-0.355113	0.38618	T	0.380610548070494	0.28206	T	0.845015	0.52334	T	0.19701724	0.41550	0.1848789	0.41567	0.19701724	0.41550	0.1848789	0.41567	-8.427	0.66138	D	.	.	0.106	0.26451	B	.;.;.	.;.;.	3.549879	0.49897	22.9	0.99684273013473856	0.79507	0.80646	0.40230	D	AEFDBHCI	0.584701	0.58342	D	0.400768499213686	0.61464	4.347979	0.279115994315909	0.54321	3.597486	0.999999999999284	0.74766	0.730579	0.87903	0	0.698795	0.70079	0	0.749866	0.98131	0	0.648885	0.59868	0	.	.	5.33	4.42	0.52775	1.931000	0.39763	4.001000	0.41074	-0.176000	0.10722	0.193000	0.24225	0.999000	0.35428	0.571000	0.30675	0.153:0.7685:0.0:0.0785	8.342	0.31413	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.05	801.43	39	chr1	179087996	.	C	T	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.705;DP=412;ExcessHet=0;FS=1.683;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.493;SOR=0.531	GT:AD:DP:GQ:PL	0/1:56,38:94:99:813,0,1400	9	0	1	0
chr1	180183935	180183935	T	C	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon7:c.T772C:p.F258L,QSOX1:NM_002826:exon7:c.T772C:p.F258L	.	426	1095	1	0	0	1	0.000456413	.	.	.	3308379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.00537943265676	7.7e-05	.	9.084e-05	0	8.637e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs377358722	6.774e-05	6.772e-05	5.31e-05	8.252e-05	0.0010	5.671e-05	5.261e-05	0.0005	0.0003	0	2.237e-05	0	0	0	0.0010	6.117e-05	9.936e-05	0.0002	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.117	0.34095	T	0.192	0.33109	T	0.322	0.35185	B	0.302	0.41118	B	0.000002	0.62929	D	0.140005	0.925755	0.36814	D	2.23	0.63091	M	3.65	0.15843	T	-4.32	0.76655	D	0.302	0.41459	-1.0860	0.06227	T	0.044	0.18783	T	10	0.24672094	0.41941	T	0.005379	0.13801	T	0.174	0.44019	0.413	0.45052	0.239305524855	0.23518	0.6316733159188503	0.63101	0.226845316457	0.25228	0.598880887032	0.52746	T	0.230147	0.59614	T	-0.29542	0.09098	T	-0.425459	0.30451	T	0.401188284158707	0.28987	T	0.688631	0.29780	T	0.4697587	0.65275	0.2551407	0.51192	0.4697587	0.65276	0.2551407	0.51191	-8.59	0.65241	D	.	.	0.725	0.74005	P	.;.	.;.	3.559732	0.50079	22.9	0.75496995653812093	0.11098	0.86389	0.45659	D	AEFDBI	0.222481	0.34697	N	-0.521760001378241	0.21377	1.134048	-0.524155859448656	0.21497	1.163239	0.602208084490153	0.21735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	3.02	0.33970	3.830000	0.55469	4.072000	0.41672	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:0.0821:0.1529:0.765	6.912	0.23520	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	939.43	33	chr1	180183935	.	T	C	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.388;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=0.983;SOR=0.672	GT:AD:DP:GQ:PL	0/1:66,42:108:99:951,0,1624	9	0	1	0
chr1	182527656	182527656	T	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon11:c.T2009G:p.I670S,RGSL1:NM_001366934:exon12:c.T2114G:p.I705S	.	438	1074	10	0	0	10	0.00463392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.00658946	0.0040	0.0207	0.0024	0	0	0.0033	0	0.0001	0.0011449	177	154602	rs112168593	0.0013	0.0013	0.0014	0.0012	0.0242	0.0013	0.0012	0.0228	0.0222	0.0242	0.0031	0.0120	0	0	0.0214	0.0003	0.0033	0.0002	0.0074	0.0074	0.0079	0.0070	0.0232	0.0071	0.0069	0.0220	0.0215	0.0232	0	0.0040	0.0138	0	0	0.0306	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.015	0.00187	N	4.66	0.01756	T	1.36	0.00878	N	0.067	0.03956	.	.	.	.	.	.	.	0.002305597	0.00034	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.16437672724921135	0.16357	.	.	0.313681006432	0.12463	T	1.22E-4	0.00015	T	-0.681751	0.00047	T	-0.734479	0.04127	T	.	.	.	0.135986	0.01074	T	0.044344943	0.07074	0.059720792	0.11255	0.044344943	0.07073	0.059720792	0.11255	-2.989	0.10063	T	.	.	0.071	0.04002	B	.	.	-1.334697	0.00410	0.008	0.27816065459680284	0.01399	0.00167	0.00991	N	AEFBI	0.023133	0.01247	N	.	.	.	.	.	.	0.99797975429368	0.36262	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.36	-8.71	0.00734	-3.871000	0.00389	-3.290000	0.02902	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.439000	0.27649	0.2699:0.3354:0.1355:0.2593	1.035	0.01449	819	0.41190	RGS 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	0.025000	0.015957	0.051724	0.048673	0.083333	0.000000	0.000000	0.000000	0.05	566.43	34	chr1	182527656	.	T	G	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=396;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.93;SOR=0.91	GT:AD:DP:GQ:PL	0/1:56,28:84:99:578,0,1443	9	0	1	0
chr1	182530821	182530821	C	T	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.C2275T:p.H759Y,RGSL1:NM_001366934:exon14:c.C2380T:p.H794Y	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.000925	143	154602	rs144974547	0.0013	0.0012	0.0013	0.0012	0.0240	0.0012	0.0012	0.0225	0.0220	0.0240	0.0030	0.0120	0	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.95	0.22474	T	-0.86	0.23372	N	0.132	0.12770	.	.	.	.	.	.	.	0.004850656	0.00103	T	.	.	.	.	.	.	.	0.154104182512	0.14974	0.12006430632421262	0.11933	.	.	0.235803753138	0.02425	T	0.004882	0.04301	T	-0.681519	0.00047	T	-0.734146	0.04142	T	.	.	.	0.19598	0.02159	T	0.038350973	0.05092	0.0516819	0.08365	0.038350973	0.05092	0.0516819	0.08364	-3.663	0.18773	T	.	.	0.072	0.04356	B	.	.	-0.711441	0.01294	0.069	0.20450242423031911	0.00736	0.02532	0.07044	N	AEFGBI	0.030228	0.03004	N	.	.	.	.	.	.	1.04305301671019E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-2.39	0.06223	0.255000	0.18102	-0.308000	0.10061	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1256:0.4565:0.1231:0.2948	2.042	0.03335	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023515	0.015957	0.032258	0.039823	0.166667	0.000000	0.000000	0.000000	0.05	1668.43	33	chr1	182530821	.	C	T	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.285;DP=383;ExcessHet=0;FS=3.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=-1.226;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,43:78:99:0|1:182530821_C_T:1680,0,1340:182530821	9	0	1	0
chr1	182530822	182530822	A	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.A2276G:p.H759R,RGSL1:NM_001366934:exon14:c.A2381G:p.H794R	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.0009379	145	154602	rs147958249	0.0013	0.0012	0.0013	0.0012	0.0239	0.0012	0.0012	0.0225	0.0219	0.0239	0.0030	0.0120	2.804e-05	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	0.664	0.04643	T	0.781	0.04316	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.955	0.01252	N	2.07	0.20387	T	1.04	0.01332	N	0.051	0.02272	.	.	.	.	.	.	.	0.0041003823	0.00081	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11975255764603225	0.11902	.	.	0.23224376142	0.02138	T	1.98E-4	0.00034	T	-0.780794	0.00011	T	-0.876747	0.00681	T	.	.	.	0.133387	0.01053	T	0.022936882	0.00993	0.02663198	0.00763	0.022936882	0.00993	0.02663198	0.00763	-3.896	0.22243	T	.	.	0.055	0.00412	B	.	.	-1.467085	0.00315	0.005	0.33398853155839092	0.01987	0.00148	0.00897	N	AEFGBI	0.014112	0.00213	N	.	.	.	.	.	.	0.00893469739416133	0.11767	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-5.75	0.02190	-1.406000	0.02596	-2.018000	0.04337	-0.671000	0.04298	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2943:0.1926:0.2978:0.2152	0.432	0.00441	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025926	0.015957	0.032258	0.039823	0.166667	0.076923	0.000000	0.000000	0.05	1668.43	33	chr1	182530822	.	A	G	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.659;DP=383;ExcessHet=0;FS=3.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=-1.156;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,43:78:99:0|1:182530821_C_T:1680,0,1340:182530821	9	0	1	0
chr1	182551123	182551123	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon18:c.G2957A:p.R986H,RGSL1:NM_001366934:exon19:c.G3062A:p.R1021H	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117285555729	0.0009	0.000399361	0.0014	0	0	0	0	0.0032	0	0.0004	0.0003169	49	154602	rs182399502	0.0006	0.0006	0.0005	0.0006	0.0165	0.0006	0.0005	0.0138	0.0128	0.0002	0.0011	0.0122	0	0	0.0165	0.0002	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0006	0.0005	4.811e-05	0	0.0010	0.0138	0	0	0.0272	0.0005	0.0019	0.0002	0.106	0.29688	T	0.008	0.67890	D	0.27	0.31762	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.85	0.24472	T	-1.19	0.30346	N	0.075	0.04913	.	.	.	.	.	.	.	0.0045185685	0.00093	T	0.011729	0.29644	T	.	.	.	.	0.0884992946249	0.08302	0.15745488202864302	0.15666	.	.	0.197746396065	0.00394	T	0.005563	0.05012	T	-0.55625	0.00267	T	-0.633785	0.10130	T	.	.	.	0.50295	0.15803	T	0.02917472	0.02370	0.038722366	0.03805	0.02917472	0.02370	0.038722366	0.03804	-1.357	0.01496	T	.	.	0.081	0.08129	B	.	.	0.014488	0.04385	1.132	0.90745433001771636	0.19995	0.01856	0.05735	N	AEFBHCI	0.014699	0.00246	N	.	.	.	.	.	.	3.1799352647016E-4	0.06498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.68	-2.24	0.06518	-1.438000	0.02523	-1.338000	0.05679	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5079:0.1629:0.3292:0.0	4.975	0.13484	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014223	0.005319	0.017857	0.029915	0.083333	0.000000	0.005208	0.000000	0.05	561.43	34	chr1	182551123	.	G	A	561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.827;DP=365;ExcessHet=0;FS=1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.699;SOR=0.515	GT:AD:DP:GQ:PL	0/1:33,27:60:99:573,0,796	9	0	1	0
chr1	183227547	183227547	A	G	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon10:c.A1318G:p.I440V,LAMC2:NM_018891:exon10:c.A1318G:p.I440V	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1491	31	0	0	31	0.0102887	.	.	.	267281	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00705583072782	0.0011	0.000599042	0.0015	9.61e-05	0.0025	0	0	0.0020	0.0022	0.0008	0.0013842	214	154602	rs147889360	0.0011	0.0011	0.0010	0.0011	0.0277	0.0010	0.0010	0.0242	0.0229	0.0008	0.0023	0.0167	0	0	0.0277	0.0006	0.0023	0.0009	0.0014	0.0014	0.0012	0.0015	0.0027	0.0012	0.0012	0.0021	0.0019	0.0002	0	0.0027	0.0181	0	0	0.0306	0.0011	0.0033	0.0012	0.89	0.02575	T	0.37	0.16473	T	0.002	0.45051	B	0.007	0.42549	B	0.018984	0.27357	N	0.342667	1	0.08975	N	1.04	0.26193	L	2.49	0.16351	T	0.07	0.06138	N	0.251	0.29889	-1.0117	0.26385	T	0.027	0.11751	T	10	0.004930675	0.00106	T	0.007056	0.18704	T	0.032	0.07718	.	.	0.181679512989	0.17746	0.3558394956187867	0.35497	0.0928677804986	0.10486	0.367219299078	0.20432	T	0.045062	0.27007	T	-0.628756	0.00097	T	-0.682108	0.06855	T	0.0260152463091466	0.01408	T	0.572443	0.20452	T	0.017570067	0.00283	0.022053603	0.00238	0.020624548	0.00627	0.021753127	0.00217	-2.714	0.07421	T	0.13715153916806236	0.15064	0.067	0.02609	B	.;.	.;.	0.861831	0.12343	8.882	0.62781003598174046	0.07051	0.22980	0.21926	N	AEFGBCI	0.349449	0.44323	N	-0.759392715148493	0.14379	0.7158105	-0.756529567948807	0.15562	0.8190704	0.999908789422852	0.45458	0.706298	0.61202	0	0.491513	0.07743	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.57	0.531	0.16303	0.570000	0.23357	0.438000	0.18395	-0.076000	0.16278	0.000000	0.06391	0.433000	0.24865	0.963000	0.52385	0.559:0.2425:0.1985:0.0	5.653	0.16903	498	0.76166	.;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	1	0	0	1	0	0	0	0.018630	0.010101	0.024457	0.035088	0.100000	0.017241	0.000000	0.007576	0.05	1568.43	33	chr1	183227547	.	A	G	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.238;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.49;SOR=0.655	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1580,0,1250	9	0	1	0
chr1	183542209	183542209	G	A	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_001174061:exon13:c.G1423A:p.A475T,SMG7:NM_001350222:exon14:c.G544A:p.A182T,SMG7:NM_001375584:exon14:c.G1549A:p.A517T,SMG7:NM_001375585:exon14:c.G1549A:p.A517T,SMG7:NM_173156:exon14:c.G1549A:p.A517T,SMG7:NM_201568:exon14:c.G1549A:p.A517T,SMG7:NM_201569:exon14:c.G1549A:p.A517T,SMG7:NM_001331007:exon15:c.G1636A:p.A546T,SMG7:NM_001350219:exon16:c.G1636A:p.A546T,SMG7:NM_001350220:exon16:c.G1636A:p.A546T,SMG7:NM_001350221:exon16:c.G1636A:p.A546T	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00243736764433	.	.	4.127e-05	0	0	0.0002	0	4.505e-05	0	0	3.23e-05	5	154602	rs762238851	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0002	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	0	0	7.558e-05	0	0.0002	1.709e-05	3.311e-05	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.413	0.13699	T	1.0	0.07568	T	0.0	0.02946	B	0.0	0.01387	B	0.561311	0.11333	N	0.828915	1	0.08975	N	-0.345	0.03330	N	2.25	0.22678	T	0.23	0.11185	N	0.043	0.02462	-0.9496	0.41040	T	0.022	0.09559	T	10	0.026864976	0.00844	T	0.002437	0.04813	T	0.076	0.22200	0.164	0.06842	0.258436476835	0.25460	0.12941891495100005	0.12866	0.129818777364	0.14634	0.250475764275	0.03818	T	0.010948	0.09827	T	-0.493049	0.00626	T	-0.645684	0.09260	T	0.00566275116164346	0.00062	T	0.79972	0.44511	T	0.020865012	0.00661	0.0334215	0.02234	0.020865012	0.00661	0.0334215	0.02234	-3.563	0.17871	T	.	.	0.062	0.02639	B	.;.;.;.;.;.	.;.;.;.;.;.	0.838812	0.12104	8.656	0.86540434697327595	0.16605	0.06901	0.12927	N	AEFBI	0.047227	0.07929	N	-0.984698222213357	0.08929	0.4206251	-0.924479713625084	0.11517	0.587208	0.0567898707025779	0.15068	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	0.237	0.14737	0.559000	0.23190	0.812000	0.21762	0.676000	0.76740	0.000000	0.06391	0.116000	0.22850	0.994000	0.71098	0.3348:0.0:0.5477:0.1175	5.898	0.18190	470	0.78111	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	35	chr1	183542209	.	G	A	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.07;DP=378;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.226;SOR=0.544	GT:AD:DP:GQ:PL	0/1:27,32:59:99:917,0,776	9	0	1	0
chr1	184754587	184754587	T	G	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon1:c.A60C:p.R20S,EDEM3:NM_025191:exon1:c.A60C:p.R20S	.	429	1044	48	1	0	50	0.0233863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	.	0.0119808	0.0072	0.0013	0.0020	0.0414	0.0005	0.0026	0.0076	0.0151	0.0052781	816	154602	rs193034365	0.0030	0.0030	0.0027	0.0033	0.0248	0.0029	0.0029	0.0235	0.0230	0.0005	0.0011	0.0068	0.0248	7.626e-05	0.0128	0.0014	0.0058	0.0135	0.0028	0.0028	0.0029	0.0028	0.0357	0.0026	0.0025	0.0315	0.0299	0.0005	0	0.0016	0.0069	0.0357	0.0002	0.0034	0.0016	0.0052	0.0110	0.987	0.01979	T	0.745	0.04895	T	0.0	0.02946	B	0.0	0.01387	B	0.139084	0.18355	N	0.501789	0.999987	0.18198	N	0	0.06538	N	-0.61	0.71779	T	0.53	0.02808	N	0.111	0.09772	-1.0611	0.11483	T	0.042	0.18076	T	10	0.007667631	0.00174	T	.	.	.	0.094	0.27141	0.619	0.75347	0.5688587536	0.56550	0.2612104138876145	0.26034	0.174374383467	0.19631	0.731880187988	0.71781	T	0.019733	0.15664	T	-0.374854	0.03356	T	-0.279093	0.46896	T	0.039269934940123	0.03559	T	0.305069	0.05837	T	0.09925845	0.23422	0.115757614	0.27944	0.1345001	0.31247	0.115757614	0.27943	-4.335	0.28664	T	.	.	0.104	0.19032	B	.	.	2.720633	0.35583	19.94	0.80142828398531007	0.13064	0.00895	0.03516	N	ALL	.	.	.	-0.544015440680604	0.20671	1.091455	-0.319936607149643	0.27455	1.52358	0.999999999999222	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.76	4.76	0.60189	1.851000	0.38978	8.248000	0.76859	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8045:0.1955	10.384	0.43312	583	0.69484	.	.	.	.	.	.	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	0.014721	0.005208	0.021739	0.008772	0.000000	0.017241	0.012500	0.015267	0.1	2290.14	36	chr1	184754587	.	T	G	2290.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=511;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.21;SOR=0.713	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1283,0,1670	8	0	2	0
chr1	186326198	186326200	TCA	-	exonic	TPR	.	nonframeshift deletion	TPR:NM_003292:exon41:c.5925_5927del:p.D1975del	.	421	1093	6	0	2	8	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0001	0	8.237e-05	0	0.0005	0.0001294	20	154602	rs748538527	8.108e-05	0.0002	6.566e-05	9.665e-05	0.0006	6.899e-05	6.449e-05	0.0005	0.0005	3.003e-05	8.975e-05	0	0.0002	3.758e-05	0	3.796e-05	0.0001	0.0006	4.601e-05	4.597e-05	3.856e-05	5.382e-05	9.653e-05	2.11e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	6.55e-05	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010428	0.005051	0.008242	0.003497	0.000000	0.017241	0.018405	0.003788	0.05	3506.39	33	chr1	186326197	.	TTCA	T	3506.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.741;DP=506;ExcessHet=0;FS=6.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=0.619;SOR=0.369	GT:AD:DP:GQ:PL	0/1:77,90:167:99:3518,0,2916	9	0	1	0
chr1	196673944	196673944	T	A	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon3:c.T332A:p.V111E,CFH:NM_001014975:exon3:c.T332A:p.V111E	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1392763	Age_related_macular_degeneration_4|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|Factor_H_deficiency|Basal_laminar_drusen|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.350	0.313858652385	.	0.000399361	0.0001	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs576819823	4.729e-05	4.788e-05	3.683e-05	5.784e-05	0.0007	3.801e-05	3.482e-05	0.0006	0.0005	0	0	0	0	0	0	9.012e-07	9.95e-05	0.0007	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	0	0	0.0006	0.218	0.19090	T	0.278	0.21812	T	0.959	0.55135	D	0.44	0.45726	B	.	.	.	.	0.578384	0.32353	D	.	.	.	0.01	0.62459	T	-2.4	0.59059	N	0.407	0.44761	-0.7829	0.56138	T	0.212	0.57241	T	9	0.18481752	0.33874	T	0.313859	0.91268	D	0.350	0.67142	0.654	0.79172	0.936195021678	0.93553	0.869237624239863	0.86888	0.320435136763	0.34251	0.426937609911	0.28790	T	0.028569	0.20668	T	-0.15196	0.28005	T	-0.076562	0.65155	T	0.165661890906554	0.18280	T	0.625137	0.26417	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.42563	B	.;.;.	.;.;.	4.246316	0.64416	24.7	0.97701422969332063	0.35436	0.67313	0.33388	D	AEFBI	0.771579	0.70617	D	-0.00422194402697867	0.41664	2.496153	0.0996153952888516	0.44530	2.732971	0.00167385162477552	0.08770	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.47	4.3	0.50540	2.435000	0.44469	4.994000	0.46548	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1663:0.0:0.0:0.8337	8.814	0.34144	545	0.72614	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	713.43	34	chr1	196673944	.	T	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.057;DP=415;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.889;SOR=0.52	GT:AD:DP:GQ:PL	0/1:37,33:70:99:725,0,902	9	0	1	0
chr1	203049733	203049733	C	T	exonic	PPFIA4	.	stopgain	PPFIA4:NM_001304331:exon13:c.C1477T:p.R493X,PPFIA4:NM_001304332:exon13:c.C1477T:p.R493X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.169e-05	0	0	0.0002	0	0	0	0.0001	1.29e-05	2	154602	rs767596639	7.667e-06	9.577e-06	5.543e-06	9.817e-06	2.439e-05	4.11e-06	3.01e-06	4.05e-06	2.79e-06	0	0	0	0	0	0	8.198e-06	0	2.439e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.067956	0.21706	U	0.221425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999489	0.64288	D	-0.0942068	0.63843	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	9.347047	0.98806	40	0.99771366348730284	0.85918	0.91220	0.53096	D	AEFDBI	0.215136	0.34052	N	0.0825186690553071	0.45650	2.817864	0.166245378547797	0.48010	3.022786	0.999987995918358	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	1.090000	0.30514	4.785000	0.44861	0.594000	0.32500	0.942000	0.32722	1.000000	0.68203	0.995000	0.73285	0.2076:0.7924:0.0:0.0	12.656	0.56149	804	0.43891	.;.	.	.	.	.	.	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	2679.14	33	chr1	203049733	.	C	T	2679.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=472;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.268;SOR=0.671	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1205,0,1117	8	0	2	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,45:133:99:.:.:604,0,1800:.	3	0	7	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	438.75	150	chr1	204444147	.	A	G	438.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.263;DP=1122;ExcessHet=1.5895;FS=176.128;InbreedingCoeff=-0.2371;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.71;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,35:134:99:.:.:101,0,2937:.	6	0	4	0
chr1	205620327	205620327	G	A	exonic	ELK4	.	nonsynonymous SNV	ELK4:NM_001973:exon3:c.C719T:p.T240I,ELK4:NM_021795:exon3:c.C719T:p.T240I	.	428	1090	4	0	0	4	0.0018315	.	.	.	3238940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00485244182574	0.0002	.	0.0002	0	8.637e-05	0	0	0.0003	0	6.056e-05	0.0001811	28	154602	rs146453123	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	4.472e-05	0.0049	2.519e-05	0	0.0010	4.137e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	8.82e-05	0.0001	9.694e-05	3.762e-05	2.575e-05	0	0	6.535e-05	0.0043	0	0	0.0068	8.82e-05	0.0005	0	0.066	0.49613	T	0.2	0.46632	T	0.0	0.02946	B	0.0	0.04355	B	0.458014	0.04852	N	1.272640	1	0.08975	N	1.5	0.37844	L	1.74	0.31731	T	-1.28	0.32185	N	0.028	0.00618	-1.0018	0.29401	T	0.039	0.16978	T	10	0.0050910413	0.00110	T	0.004852	0.12161	T	0.027	0.05988	.	.	0.224531998449	0.22054	0.18705025350684212	0.18623	0.14465064476	0.16340	.	.	.	0.33817	0.70746	T	-0.555061	0.00272	T	-0.742935	0.03768	T	0.0195704961100207	0.00660	T	0.486851	0.16939	T	0.030451909	0.02712	0.047192045	0.06744	0.030451909	0.02712	0.047192045	0.06744	-3.937	0.22858	T	.	.	0.075	0.10159	B	.;.	.;.	0.937911	0.13134	9.636	0.94497110314111188	0.24967	0.11866	0.16912	N	AEFBI	0.062387	0.11989	N	-1.18915013707969	0.05163	0.2347327	-1.1800873126502	0.06243	0.2998965	0.795611876203697	0.24093	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	-0.806	0.10327	1.501000	0.35301	3.327000	0.37595	-0.153000	0.12021	0.004000	0.16614	0.437000	0.24884	0.074000	0.16894	0.2547:0.3465:0.3988:0.0	6.300	0.20315	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1373.43	33	chr1	205620327	.	G	A	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.106;SOR=0.701	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1385,0,1878	9	0	1	0
chr1	207717539	207717539	G	A	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon11:c.G1490A:p.G497E	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0240218992012	0.0028	0.000798722	0.0022	0.0003	0.0007	0	0.0008	0.0031	0.0022	0.0027	0.0021022	325	154602	rs186427145	0.0025	0.0025	0.0025	0.0025	0.0028	0.0024	0.0024	0.0027	0.0027	0.0002	0.0007	0.0028	2.519e-05	0.0010	0.0009	0.0028	0.0022	0.0026	0.0017	0.0017	0.0021	0.0014	0.0031	0.0015	0.0015	0.0028	0.0026	0.0003	0	0.0005	0.0023	0	0.0011	0	0.0031	0.0019	0.0017	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.962	0.70672	D	.	.	.	.	0.901532	0.27690	N	3.365	0.91266	M	-0.65	0.72237	T	-5.48	0.85692	D	0.671	0.67908	-0.3510	0.73524	T	0.465	0.79340	T	9	0.060646117	0.07482	T	0.024022	0.47001	T	0.424	0.73226	.	.	0.542808479177	0.53935	0.256220782512593	0.25536	0.662919153663	0.59002	0.32508045435	0.14191	T	0.049615	0.28359	T	-0.259814	0.12921	T	-0.149659	0.59275	T	0.0453611331822632	0.04668	T	0.535446	0.17943	T	0.38793644	0.59885	0.36811057	0.62107	0.38793644	0.59886	0.36811057	0.62106	-11.068	0.80029	D	.	.	0.157	0.34624	B	.	.	3.402943	0.47165	22.4	0.99374803517158505	0.61628	0.88545	0.48522	D	AEFBI	0.231576	0.35478	N	0.415654329274182	0.62281	4.441589	0.22934265178221	0.51481	3.330362	0.00471475255160148	0.10684	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.01	3.01	0.33872	4.379000	0.59342	5.361000	0.48400	0.368000	0.20244	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	10.123	0.41804	884	0.28482	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	2160.43	38	chr1	207717539	.	G	A	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.04;DP=528;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.29;MQRankSum=3.78;QD=10.91;ReadPosRankSum=-0.857;SOR=0.691	GT:AD:DP:GQ:PL	0/1:105,93:198:99:2172,0,2612	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|1:96,17:113:99:0|1:212100360_A_G:108,0,3744:212100360	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|1:96,17:113:99:0|1:212100360_A_G:108,0,3744:212100360	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|1:96,17:113:99:0|1:212100360_A_G:108,0,3744:212100360	6	0	4	0
chr1	214645556	214645556	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5986G:p.S1996G	Stromme syndrome, Autosomal recessive	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00307557025383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420651187	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.402	0.10412	T	0.394	0.15305	T	.	.	.	.	.	.	0.506143	0.05120	N	1.366580	1	0.08975	N	.	.	.	0.78	0.49358	T	-1.06	0.27669	N	0.103	0.08646	-1.0330	0.19490	T	0.053	0.22655	T	10	0.043306947	0.03165	T	0.003076	0.06636	T	0.057	0.16321	.	.	0.0482279557977	0.04254	0.015535985324263656	0.01509	0.0497193645507	0.05451	0.249759674072	0.03742	T	.	.	.	-0.314934	0.07320	T	-0.674671	0.07313	T	0.0314089257149707	0.02212	T	0.489851	0.15048	T	0.026220506	0.01653	0.033440735	0.02239	0.026220506	0.01653	0.033440735	0.02239	-4.957	0.36370	T	.	.	0.056	0.00496	B	.	.	-0.330764	0.02486	0.290	0.60498897640054228	0.06478	0.01885	0.05793	N	AEFBCI	0.021908	0.01031	N	-1.42816029369839	0.02394	0.105666	-1.40199971513235	0.03232	0.150352	0.834263486472987	0.24748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	-2.13	0.06745	-0.281000	0.08489	0.053000	0.14027	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4817:0.0:0.5183:0.0	13.061	0.58416	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1195.43	35	chr1	214645556	.	A	G	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.354;DP=450;ExcessHet=0;FS=2.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.083;SOR=0.468	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1207,0,1459	9	0	1	0
chr1	215680331	215680331	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon62:c.A12112G:p.T4038A	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	858903	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.322929554422	.	.	3.299e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs754979740	4.583e-05	4.583e-05	5.717e-05	3.438e-05	0.0010	3.661e-05	3.347e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.946e-05	9.934e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.551e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.41e-05	0	0	0.137	0.25979	T	0.058	0.46182	T	0.992	0.64738	D	0.887	0.62952	P	0.000296	0.46274	D	0.000000	0.526296	0.31528	N	1.76	0.45711	L	0.4	0.57261	T	-2.37	0.52289	N	0.094	0.07398	-0.7363	0.58642	T	0.216	0.57745	T	10	0.61584055	0.67700	D	0.32293	0.91528	D	0.243	0.54921	.	.	0.837083782604	0.83553	0.4737459772398402	0.47293	0.0335984887463	0.03527	0.322042942047	0.13731	T	0.095618	0.39657	T	-0.157273	0.27182	T	-0.307322	0.43947	T	0.133371478305574	0.15690	T	0.552645	0.19087	T	0.14400096	0.33072	0.17915915	0.40633	0.14400096	0.33072	0.17915915	0.40632	-5.196	0.38901	T	0.457450626276204	0.54020	0.073	0.04558	B	.	.	0.802268	0.11727	8.307	0.90258052451502069	0.19528	0.90504	0.51735	D	AEFBI	0.260781	0.37886	N	0.0634956574525399	0.44764	2.744671	-0.0032997096804105	0.39566	2.347937	0.0170806997554493	0.12909	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	1.880000	0.39263	0.137000	0.15122	0.665000	0.62972	0.963000	0.33788	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.0:1.0	15.186	0.72687	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2041.43	33	chr1	215680331	.	T	C	2041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.627;DP=444;ExcessHet=0;FS=3.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=1.71;SOR=0.448	GT:AD:DP:GQ:PL	0/1:54,77:131:99:2053,0,1273	9	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	57.23	58	chr1	220074013	.	G	A	57.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.835;DP=576;ExcessHet=0.2348;FS=264.61;InbreedingCoeff=-0.2122;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=0.965;SOR=8.379	GT:AD:DP:GQ:PL	0/1:60,20:80:35:35,0,1067	5	0	2	3
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	0/1:50,23:81:49:49,0,686	3	0	7	0
chr1	221739728	221739728	A	G	exonic	DUSP10	.	nonsynonymous SNV	DUSP10:NM_007207:exon2:c.T17C:p.L6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0391790014194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917e-07	1.368e-06	0	1.395e-06	9.076e-07	0	0	.	.	0	0	0	0	0	0	9.076e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.841643	0.07003	N	1.077800	1	0.81001	D	0.975	0.24501	L	3.6	0.04494	T	-0.59	0.17624	N	0.899	0.89912	-1.1115	0.02944	T	0.037	0.16160	T	10	0.7444325	0.75186	D	0.039179	0.58658	D	0.360	0.68052	0.11	0.02049	0.550885202691	0.54745	0.8136111555073962	0.81317	1.28636609278	0.82672	0.773925364017	0.78013	T	0.183662	0.53607	T	0.183493	0.72364	D	0.025799	0.72006	D	0.92934376001358	0.59335	D	0.805419	0.45334	T	0.2390642	0.46793	0.32787758	0.58681	0.2390642	0.46793	0.32787758	0.58681	-2.867	0.08818	T	.	.	0.643	0.70658	P	.	.	4.921596	0.81058	27.5	0.99854874203353206	0.93368	0.95059	0.63288	D	AEFDBHCI	0.897757	0.84029	D	0.687929479768234	0.78842	6.953603	0.725470477654434	0.84313	8.257233	0.999999999999695	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.687403	0.62504	0	0.616125	0.45549	0	.	.	5.61	5.61	0.85347	8.947000	0.92735	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.801	0.78227	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1794.43	37	chr1	221739728	.	A	G	1794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.45;DP=464;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.081;SOR=0.613	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1806,0,1659	9	0	1	0
chr1	222628373	222628373	G	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.G1153A:p.D385N,MIA3:NM_001324063:exon4:c.G1153A:p.D385N,MIA3:NM_198551:exon4:c.G1153A:p.D385N,MIA3:NM_001324064:exon5:c.G661A:p.D221N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0327850061945	.	0.000599042	0.0007	0	0	0	0	0	0.0011	0.0050	0.0005563	86	154602	rs564848897	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	0	0	0	2.52e-05	0	0.0002	2.698e-06	0.0004	0.0049	0.0001	0.0001	6.424e-05	0.0002	0.0044	9.142e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0044	0.008	0.58626	D	0.353	0.70582	T	0.997	0.70673	D	0.921	0.65636	D	.	.	.	.	0.892925	0.35993	D	.	.	.	2.53	0.48769	T	-2.12	0.57275	N	0.243	0.52386	-0.5713	0.65963	T	0.293	0.66460	T	9	0.0072318614	0.00165	T	0.032785	0.54518	D	0.206	0.49396	0.344	0.33788	0.514072065251	0.51050	0.0495651754555107	0.04899	0.351519266258	0.36992	0.327500760555	0.14557	T	0.01311	0.11397	T	-0.555503	0.00270	T	-0.570314	0.15420	T	0.0733242928020612	0.09110	T	0.812519	0.47330	T	0.14263871	0.32817	0.17161663	0.39356	0.14263871	0.32817	0.17161663	0.39356	-4.372	0.29174	T	.	.	0.141	0.30817	B	.;.	.;.	4.028209	0.59550	24.1	0.99912468621328032	0.98167	0.99041	0.90363	D	AEFBI	0.502646	0.53497	D	0.442057289607951	0.63752	4.615298	0.348523991174695	0.58418	4.012244	0.999999997284595	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.753000	0.61880	5.641000	0.49149	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	17.745	0.88328	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	33	chr1	222628373	.	G	A	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=452;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.29;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1430,0,1012	9	0	1	0
chr1	227654936	227654936	G	T	exonic	ZNF678	.	nonsynonymous SNV	ZNF678:NM_001367911:exon3:c.G758T:p.R253I,ZNF678:NM_001367909:exon4:c.G686T:p.R229I,ZNF678:NM_178549:exon4:c.G851T:p.R284I,ZNF678:NM_001367910:exon5:c.G686T:p.R229I	.	.	.	.	.	.	.	.	.	.	.	2376244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00260076746766	.	0.000199681	3.33e-05	0.0001	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs527431317	1.301e-05	1.3e-05	9.537e-06	1.651e-05	0.0002	8.32e-06	6.71e-06	9.799e-05	7.844e-05	0	2.249e-05	0	2.524e-05	0	0	2.699e-06	0	0.0002	3.294e-05	3.284e-05	3.866e-05	2.696e-05	0.0002	1.263e-05	8e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	0	0	0.0002	0.334	0.12961	T	0.152	0.32249	T	0.199	0.29618	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	2.22	0.62911	M	1.83	0.24841	T	-1.28	0.32185	N	0.224	0.25253	-1.0300	0.20454	T	0.056	0.23753	T	9	0.08205789	0.13502	T	0.002601	0.05263	T	0.045	0.12272	0.723	0.85761	0.0846915920261	0.08053	0.020901992842201875	0.02043	0.0186665029899	0.01818	0.261111110449	0.05024	T	0.020573	0.16172	T	-0.411796	0.01934	T	-0.592625	0.13439	T	0.0256272535771132	0.01355	T	0.171083	0.01625	T	0.05159733	0.09499	0.07518834	0.16528	0.05159733	0.09499	0.07518834	0.16528	-6.692	0.51750	T	.	.	0.152	0.42506	B	.;.	.;.	0.804121	0.11749	8.324	0.62820814821451154	0.07061	0.00002	0.00064	N	AEFDBHCI	0.027752	0.02323	N	-1.25634944958282	0.04216	0.1898775	-1.42867694910006	0.02969	0.1376006	4.37243023116353E-4	0.06970	0.566229	0.32551	0	0.653731	0.59785	0	0.575934	0.27490	0	0.674467	0.66132	0	.	.	1.62	-1.01	0.09650	-0.423000	0.07102	.	.	-1.280000	0.01269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3312:0.0:0.6688:0.0	6.072	0.19115	710	0.56735	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	.	.	.	.	.	.	.	.	0.05	1180.43	35	chr1	227654936	.	G	T	1180.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.453;DP=381;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.669;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,44:71:99:1192,0,651	9	0	1	0
chr1	228259762	228259762	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H	.	0	1489	33	0	0	33	0.0109598	.	.	.	2816140	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0080	0.00239617	0.0084	0.0018	0.0030	0	0.0036	0.0133	0.0056	0.0024	0.0078783	1218	154602	rs147633098	0.0093	0.0093	0.0093	0.0093	0.0220	0.0092	0.0091	0.0189	0.0177	0.0016	0.0045	0.0283	0.0001	0.0060	0.0220	0.0102	0.0099	0.0026	0.0067	0.0067	0.0071	0.0063	0.0103	0.0064	0.0062	0.0097	0.0094	0.0017	0.0241	0.0046	0.0202	0	0.0051	0.0272	0.0103	0.0071	0.0017	.	.	.	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20609	N	.	.	.	3.56	0.04696	T	.	.	.	0.073	0.04668	-0.9723	0.36712	T	0.011	0.04321	T	6	0.003629744	0.00066	T	.	.	.	.	.	.	.	0.256793551483	0.25290	0.16994627065651727	0.16914	0.115633920596	0.13049	0.202615946531	0.00537	T	.	.	.	-0.695139	0.00039	T	-0.760908	0.03080	T	0.00463822941397851	0.00050	T	0.20008	0.02257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	-0.010789	0.04210	1.027	0.81329423621141439	0.13632	0.01331	0.04588	N	AEFDBI	0.063747	0.12339	N	-0.793613011190379	0.13475	0.6641176	-0.938894624292241	0.11182	0.5680889	1.9642407017775E-4	0.05898	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.25	-2.54	0.05941	-1.658000	0.02079	-20.000000	0.00162	-0.887000	0.02411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6034:0.0:0.3966:0.0	12.965	0.57880	452	0.79239	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	TRIM11|RP11-245P10.4|TRIM17|GUK1|TRIM11	Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Skin_Sun_Exposed_Lower_leg	.	.	.	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	3074.43	38	chr1	228259762	.	G	A	3074.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.672;DP=541;ExcessHet=0;FS=7.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=-0.65;SOR=0.354	GT:AD:DP:GQ:PL	0/1:77,109:186:99:3086,0,2132	9	0	1	0
chr1	229486489	229486489	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon11:c.C1382T:p.P461L	.	432	1083	7	0	0	7	0.00322135	.	.	.	2058436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.303	.	0.0111	0.00998403	0.0034	0.0310	0.0023	0	0	0.0008	0.0022	0.0010	0.0033117	512	154602	rs35442997	0.0014	0.0015	0.0016	0.0013	0.0350	0.0014	0.0014	0.0334	0.0327	0.0350	0.0027	0.0045	0	0	0.0092	0.0004	0.0026	0.0013	0.0096	0.0096	0.0101	0.0090	0.0322	0.0092	0.0090	0.0308	0.0302	0.0322	0	0.0043	0.0038	0	0	0.0068	0.0004	0.0066	0.0004	0.015	0.52492	D	0.01	0.65728	D	0.901	0.49677	P	0.475	0.46927	P	0.000247	0.46924	N	0.251116	1	0.81001	D	2.645	0.77386	M	1.04	0.40218	T	-7.49	0.95015	D	0.848	0.84401	-1.0437	0.16207	T	0.035	0.15030	T	10	0.011242628	0.00247	T	.	.	.	0.303	0.62400	.	.	0.596373027241	0.59316	0.8607316831539459	0.86037	0.654707559036	0.58537	0.51627779007	0.41103	T	0.689195	0.90947	D	-0.371551	0.03517	T	-0.282109	0.46588	T	0.0792954601727821	0.09895	T	0.863714	0.56064	D	0.663883	0.76106	0.33143714	0.59002	0.663883	0.76107	0.33143714	0.59002	-7.718	0.59133	D	.	.	0.311	0.53853	B	.	.	4.685243	0.75020	26.3	0.99473740723852122	0.66472	0.98688	0.85598	D	AEFBI	0.492064	0.52886	N	0.227933375759623	0.52558	3.429105	0.235388365812326	0.51823	3.361534	0.987688502237334	0.31320	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.21	4.3	0.50540	6.731000	0.74591	8.628000	0.77841	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0737:0.0:0.9263:0.0	13.987	0.63854	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.010101	0.023098	0.014620	0.000000	0.000000	0.006098	0.003788	0.05	1473.43	34	chr1	229486489	.	G	A	1473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.981;DP=468;ExcessHet=0;FS=4.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.334;SOR=0.423	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1485,0,1637	9	0	1	0
chr1	234398495	234398495	A	G	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon26:c.T4130C:p.I1377T	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00428299668018	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0003	0.0011	0.0006	0.0002393	37	154602	rs138599154	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	5.981e-05	0.0001	0.0023	2.524e-05	0	0.0023	7.93e-05	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.655e-05	7.248e-05	0.0002	8.375e-05	7.214e-05	0	6.533e-05	0.0003	0.0006	0	0	0.0001	0.0005	0.0002	0.154	0.24277	T	0.201	0.27503	T	0.116	0.26475	B	0.036	0.22909	B	0.002224	0.36970	N	0.271381	1	0.08975	N	1.39	0.34934	L	3.4	0.05642	T	-0.39	0.13611	N	0.084	0.06059	-0.9643	0.38350	T	0.018	0.07282	T	10	0.010417283	0.00232	T	0.004283	0.10373	T	0.119	0.33137	.	.	0.112648838833	0.10856	0.342553738638931	0.34168	0.0460589994829	0.05005	0.352499783039	0.18289	T	0.010785	0.09704	T	-0.555261	0.00271	T	-0.655875	0.08548	T	0.0275808968812889	0.01628	T	0.747925	0.36851	T	0.048386093	0.08426	0.045727223	0.06218	0.048386093	0.08425	0.045727223	0.06217	-3.179	0.12226	T	.	.	0.065	0.02012	B	.	.	1.996617	0.25370	16.74	0.9079720496356436	0.20046	0.65849	0.32876	D	AEFBI	0.084863	0.17202	N	-0.343161810233035	0.27524	1.510799	-0.252375151000784	0.29689	1.66541	0.999992166360724	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	4.72	0.59248	2.947000	0.48750	6.029000	0.52897	0.750000	0.87069	0.669000	0.28339	0.722000	0.26360	0.993000	0.69303	0.859:0.0:0.141:0.0	9.088	0.35751	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	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	1259.14	34	chr1	234398495	.	A	G	1259.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.11;DP=427;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.18;SOR=0.726	GT:AD:DP:GQ:PL	0/1:35,35:70:99:713,0,801	8	0	2	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	257.43	46	chr1	243330649	.	T	C	257.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.762;DP=835;ExcessHet=0.7463;FS=120.026;InbreedingCoeff=-0.1754;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.49;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:154,47:201:18:.:.:18,0,2811:.	7	0	3	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	575.57	46	chr1	243330650	.	G	A	575.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.207;DP=1009;ExcessHet=1.5895;FS=128.873;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.64;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,52:203:99:.:.:100,0,2673:.	6	0	4	0
chr1	247606052	247606052	C	T	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.C467T:p.S156F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00487272123061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.94	0.52768	P	0.912	0.64797	D	0.003028	0.35542	U	0.000000	1	0.08975	N	2.98	0.85499	M	0.91	0.44856	T	-5.3	0.84387	D	0.169	0.17966	-0.7498	0.57946	T	0.272	0.64401	T	10	0.36200452	0.52807	T	0.004873	0.12224	T	0.128	0.35103	0.705	0.84145	0.590995569847	0.58776	0.28999490554351065	0.28912	0.356607788428	0.37403	0.289806485176	0.08894	T	0.006911	0.06335	T	-0.0855743	0.38805	T	-0.360698	0.37971	T	0.994767665863037	0.86260	D	0.538446	0.18153	T	0.84093624	0.86675	0.766928	0.86234	0.84093624	0.86676	0.766928	0.86235	-11.556	0.82621	D	.	.	0.376	0.58197	A	.	.	2.582214	0.33479	19.35	0.99542504421667777	0.70586	0.01531	0.05040	N	AEFI	0.050604	0.08861	N	-0.232654916858836	0.31801	1.786857	-0.506160876156086	0.21985	1.191972	1.56343494544074E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.8	2.88	0.32617	-0.134000	0.10415	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.0:0.8912:0.0:0.1088	9.383	0.37487	900	0.24599	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	.	.	.	.	.	.	.	.	0.05	2712.43	104	chr1	247606052	.	C	T	2712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.49;DP=899;ExcessHet=0;FS=5.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.049;SOR=1.015	GT:AD:DP:GQ:PL	0/1:141,107:248:99:2724,0,3584	9	0	1	0
chr2	10802598	10802598	T	C	exonic	PDIA6	.	nonsynonymous SNV	PDIA6:NM_005742:exon2:c.A62G:p.Y21C,PDIA6:NM_001282705:exon3:c.A206G:p.Y69C,PDIA6:NM_001282706:exon3:c.A77G:p.Y26C,PDIA6:NM_001282707:exon3:c.A53G:p.Y18C,PDIA6:NM_001282704:exon4:c.A218G:p.Y73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0500904166695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.492e-06	8.209e-06	1.477e-06	1.508e-06	1.551e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	9.476e-07	0	1.551e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	1.06	0.39781	T	-7.55	0.95305	D	0.918	0.98065	-0.0856	0.80427	T	0.368	0.72818	T	10	0.855863	0.84782	D	0.05009	0.64095	D	0.645	0.86536	0.543	0.65589	0.778743473999	0.77670	0.6449372733511507	0.64428	0.936948820389	0.72059	0.70856654644	0.68386	T	0.261593	0.63309	T	0.278216	0.81164	D	0.161862	0.80921	D	0.998817980289459	0.95250	D	0.981402	0.95021	D	0.91655755	0.92915	0.8504035	0.91531	0.91655755	0.92916	0.8504035	0.91532	-16.137	0.97959	D	.	.	0.905	0.84405	P	.;.;.;.;.;.	.;.;.;.;.;.	4.652118	0.74163	26.1	0.99849985314069678	0.92925	0.98367	0.82057	D	AEFBI	0.932045	0.92180	D	0.938702500726902	0.93523	12.096	0.879141792078518	0.94596	12.88739	0.999999999999614	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.430000	0.79505	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.566	0.84437	770	0.49152	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	.	.	.	.	.	.	.	.	0.05	1227.43	39	chr2	10802598	.	T	C	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=459;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1;SOR=0.778	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1239,0,1353	9	0	1	0
chr2	20651060	20651060	-	CATGACGGCGGCGGGGACTC	exonic	HS1BP3	.	frameshift insertion	HS1BP3:NM_022460:exon1:c.3_4insGAGTCCCCGCCGCCGTCATG:p.Q2Efs*28	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440859218	3.046e-05	2.463e-05	3.676e-05	2.343e-05	0.0002	2.172e-05	1.911e-05	4.097e-05	2.107e-05	0	0	0	0	0	0	2.928e-05	6.855e-05	0.0002	1.971e-05	1.97e-05	2.569e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	466.39	27	chr2	20651060	.	G	GCATGACGGCGGCGGGGACTC	466.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.116;DP=219;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=0.211;SOR=1.123	GT:AD:DP:GQ:PL	0/1:7,12:19:99:478,0,258	9	0	1	0
chr2	25743927	25743927	C	G	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon10:c.G1630C:p.E544Q,ASXL2:NM_001369346:exon11:c.G2236C:p.E746Q,ASXL2:NM_018263:exon12:c.G2410C:p.E804Q	Shashi-Pena syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00709644128227	.	.	2.484e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs760941065	5.473e-06	5.472e-06	2.723e-06	8.252e-06	9.276e-05	2.35e-06	1.7e-06	4.579e-05	3.273e-05	0	0	0	0	0	0	0	0	9.276e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.378	0.28120	T	0.996	0.68779	D	0.867	0.61644	P	0.038245	0.24307	N	0.404030	1	0.08975	N	2.045	0.56016	M	2.2	0.18875	T	-0.4	0.13805	N	0.051	0.02272	-1.0090	0.27230	T	0.087	0.33830	T	10	0.07023817	0.10191	T	0.007096	0.18814	T	0.092	0.26621	0.185	0.09388	0.151262610727	0.14761	0.2658854872934252	0.26501	0.363869704645	0.38005	0.329218834639	0.14816	T	0.066304	0.32912	T	-0.381056	0.03069	T	-0.548469	0.17472	T	0.131017088890076	0.15476	T	0.851815	0.54540	D	0.13432796	0.31214	0.04645729	0.06480	0.13432796	0.31214	0.04645729	0.06480	-3.316	0.18219	T	0.11588830251526225	0.10419	0.086	0.16800	B	.;.;.	.;.;.	3.276713	0.44877	22.0	0.95812697034290328	0.27888	0.32322	0.24557	N	AEFGBCI	0.075225	0.15099	N	0.0451371775420274	0.43918	2.67555	0.0182462025221623	0.40562	2.422749	0.999996539438399	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	1.196000	0.31807	7.611000	0.61914	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.8463:0.0:0.1537	9.119	0.35937	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	0	0	.	.	.	.	.	.	.	.	0.05	926.43	33	chr2	25743927	.	C	G	926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.435;DP=381;ExcessHet=0;FS=4.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-1.656;SOR=0.503	GT:AD:DP:GQ:PL	0/1:34,34:68:99:938,0,971	9	0	1	0
chr2	26310072	26310072	C	T	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_153835:exon10:c.G2515A:p.A839T,ADGRF3:NM_001145169:exon12:c.G2905A:p.A969T,ADGRF3:NM_001321971:exon12:c.G2908A:p.A970T,ADGRF3:NM_001145168:exon13:c.G3112A:p.A1038T,ADGRF3:NM_001321975:exon13:c.G1921A:p.A641T	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	7.7e-05	0.00339457	0.0014	9.612e-05	0	0	0	0	0.0033	0.0101	0.0012484	193	154602	rs371242523	0.0006	0.0006	0.0003	0.0009	0.0102	0.0006	0.0006	0.0097	0.0095	0	0	0	0	0	0.0005	4.497e-06	0.0006	0.0102	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0.0034	0	0	0.0120	0.841	0.04081	T	1.0	0.01155	T	0.037	0.23728	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.43672	T	0.36	0.03700	N	0.181	0.19593	-1.0338	0.19236	T	0.035	0.15030	T	9	0.0046133995	0.00096	T	.	.	.	0.088	0.25558	.	.	0.0138822411134	0.00435	0.027274580353201145	0.02677	0.0795081424943	0.08942	0.233527630568	0.02239	T	0.001974	0.01384	T	-0.74447	0.00019	T	-0.832761	0.01214	T	0.0223484822840362	0.00948	T	0.451055	0.13467	T	0.018741146	0.00396	0.04370995	0.05498	0.018741146	0.00396	0.04370995	0.05497	-3.829	0.21238	T	.	.	0.062	0.01859	B	.;.;.	.;.;.	-1.013062	0.00753	0.023	0.619047088175113	0.06826	0.00090	0.00598	N	AEFDBI	0.021585	0.00978	N	-1.78058768847544	0.00594	0.02561184	-1.85622593753423	0.00595	0.02644838	0.999980165823878	0.51787	0.556989	0.30585	1	0.588015	0.36545	0	0.504386	0.09223	2	0.530356	0.10902	0	.	.	5.97	-9.65	0.00450	-1.000000	0.03804	-2.055000	0.04281	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2905:0.2012:0.1973:0.311	0.011	0.00001	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.05	1193.43	52	chr2	26310072	.	C	T	1193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=555;ExcessHet=0;FS=3.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.108;SOR=1.054	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1205,0,1774	9	0	1	0
chr2	27443518	27443518	G	A	exonic	KRTCAP3	.	nonsynonymous SNV	KRTCAP3:NM_001168364:exon5:c.G601A:p.G201R,KRTCAP3:NM_001321325:exon5:c.G601A:p.G201R,KRTCAP3:NM_173853:exon5:c.G601A:p.G201R	.	424	1078	19	1	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0002	0.00319489	0.0023	0	0.0003	0.0001	0	0.0002	0.0022	0.0158	0.0019599	303	154602	rs140860919	0.0010	0.0010	0.0006	0.0015	0.0156	0.0010	0.0010	0.0149	0.0146	5.974e-05	2.236e-05	0	5.038e-05	0	0.0014	8.813e-05	0.0008	0.0156	0.0006	0.0006	0.0003	0.0009	0.0168	0.0005	0.0005	0.0139	0.0128	2.407e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0168	0.561	0.53900	T	0.823	0.45530	T	0.904	0.49848	P	0.267	0.39770	B	0.039479	0.24167	N	0.479309	0.869188	0.37177	D	0.345	0.11182	N	1.04	0.40218	T	0.0	0.90608	N	0.303	0.34228	-1.0207	0.23486	T	0.078	0.31133	T	10	0.0041401386	0.00082	T	.	.	.	0.107	0.30369	0.354	0.35408	0.441636318388	0.43783	0.4181076378756659	0.41726	0.171605658539	0.19324	0.461895823479	0.33571	T	0.007087	0.40791	T	-0.389414	0.02714	T	-0.319169	0.42666	T	0.0249702177853107	0.01269	T	0.705929	0.32487	T	0.13634725	0.31611	0.08662678	0.20084	0.13634725	0.31611	0.08662678	0.20083	-3.204	0.12530	T	.	.	0.089	0.23848	B	.;.;.;.	.;.;.;.	3.575398	0.50375	22.9	0.99734813014918078	0.83047	0.94046	0.59950	D	AEFDBCI	0.647266	0.62250	D	0.16364946476459	0.49460	3.146148	0.27384074030667	0.54015	3.568054	0.999999893844659	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.636168	0.56350	0	.	.	5.83	5.83	0.93059	3.570000	0.53578	5.863000	0.50453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	17.600	0.87923	63	0.97314	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	1582.43	37	chr2	27443518	.	G	A	1582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=450;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.275;SOR=0.517	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1594,0,1487	9	0	1	0
chr2	38959867	38959867	G	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.G1562C:p.S521T,ARHGEF33:NM_001367623:exon16:c.G1562C:p.S521T	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0092	0.00259585	0.0077	0.0037	0.0104	0	0.0029	0.0135	0.0043	0.0035	0.0023286	360	154602	rs201925961	0.0097	0.0093	0.0097	0.0096	0.0127	0.0095	0.0095	0.0104	0.0102	0.0024	0.0096	0.0248	0	0.0068	0.0127	0.0105	0.0101	0.0027	0.0077	0.0077	0.0083	0.0071	0.0110	0.0074	0.0072	0.0104	0.0101	0.0037	0	0.0068	0.0248	0	0.0042	0.0136	0.0110	0.0095	0.0033	0.281	0.15458	T	0.769	0.04492	T	.	.	.	.	.	.	.	.	.	.	0.99891	0.21810	N	0.695	0.17993	N	0.79	0.49068	T	-0.03	0.07444	N	0.065	0.06454	-1.0578	0.12311	T	0.062	0.25887	T	9	0.0036280155	0.00066	T	.	.	.	0.056	0.15993	.	.	0.124217242631	0.12060	0.3194243498274613	0.31855	.	.	0.438303112984	0.30345	T	.	.	.	-0.614037	0.00120	T	-0.643122	0.09443	T	0.00991943828818208	0.00132	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-3.569	0.17410	T	.	.	0.078	0.06896	B	.;.	.;.	2.471970	0.31864	18.87	0.98122794707842576	0.38448	0.81894	0.41209	D	AEFDBCI	0.292932	0.40368	N	-0.252721942049127	0.30994	1.733645	-0.0638757124785495	0.36897	2.153146	0.999977932084475	0.50053	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.12	4.18	0.48473	1.738000	0.37831	6.223000	0.55146	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.24:0.76:0.0	14.663	0.68495	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	0.014170	0.000000	0.024038	0.008333	0.083333	0.000000	0.029126	0.009091	0.05	2310.43	34	chr2	38959867	.	G	C	2310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.855;DP=555;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.813;SOR=0.807	GT:AD:DP:GQ:PL	0/1:128,111:239:99:2322,0,3243	9	0	1	0
chr2	47905551	47905551	-	GCT	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.169_170insAGC:p.Q56_P57insQ	.	.	.	.	.	.	.	.	.	.	.	963527	Intellectual_disability|FBXO11-related_disorder|not_provided|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0137	0	0	0	0	0.0109	0	0.0161	0.0023052	60	26028	rs757840201	0.0104	0.0087	0.0105	0.0102	0.0110	0.0102	0.0102	0.0108	0.0107	0.0064	0.0048	0.0206	0.0019	0.0031	0.0059	0.0110	0.0107	0.0029	0.0073	0.0072	0.0078	0.0067	0.0095	0.0069	0.0068	0.0089	0.0086	0.0058	0.0155	0.0036	0.0238	0.0027	0.0018	0	0.0095	0.0058	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	684.39	28	chr2	47905551	.	G	GGCT	684.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.782;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=25.35;ReadPosRankSum=0.425;SOR=0.551	GT:AD:DP:GQ:PL	0/1:8,19:27:99:696,0,279	9	0	1	0
chr2	54916834	54916834	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon25:c.G3574A:p.D1192N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00809895201272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs972657970	2.86e-06	3.42e-06	1.411e-06	4.35e-06	3.71e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.71e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.124	0.27426	T	0.152	0.32249	T	0.527	0.37646	P	0.085	0.29395	B	.	.	.	.	0.981977	0.24999	N	2.42	0.70002	M	1.05	0.39990	T	-3.12	0.63782	D	0.498	0.53093	-0.9576	0.39626	T	0.126	0.43174	T	9	0.30109063	0.47653	T	0.008099	0.21470	T	0.167	0.42761	.	.	0.260735089382	0.25697	0.5884515333812768	0.58775	0.279803791515	0.30462	0.610818505287	0.54431	T	0.20582	0.56499	T	-0.194347	0.21623	T	-0.516942	0.20605	T	0.936214983463287	0.60504	D	0.865513	0.56452	D	0.18147194	0.39319	0.23908198	0.49247	0.18147194	0.39318	0.23908198	0.49246	-10.177	0.74964	D	.	.	0.106	0.19720	B	.	.	3.670722	0.52193	23.2	0.9980107959391703	0.88550	0.95983	0.67006	D	AEFBI	0.341852	0.43820	N	0.00988720103454968	0.42303	2.546404	0.0333368361447947	0.41274	2.476889	0.536714700807623	0.21219	0.549168	0.22868	0	0.55458	0.17659	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.68	4.8	0.61157	6.629000	0.74129	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0:0.1263:0.8737:0.0	17.144	0.86640	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1219.43	33	chr2	54916834	.	G	A	1219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=413;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.082;SOR=0.794	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1231,0,1182	9	0	1	0
chr2	73701063	73701063	G	A	exonic	NAT8B	.	unknown	UNKNOWN	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	9.073e-05	0	8.637e-05	0	0	0	0	0.0006	7.76e-05	12	154602	rs573495203	6.293e-05	6.293e-05	4.492e-05	8.113e-05	0.0007	5.228e-05	4.845e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0007	3.417e-05	4.967e-05	0.0005	5.91e-05	6.562e-05	6.424e-05	5.372e-05	0.0012	3.076e-05	2.209e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	3987.43	161	chr2	73701063	.	G	A	3987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=1636;ExcessHet=0;FS=0.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.31;SOR=0.779	GT:AD:DP:GQ:PL	0/1:120,148:268:99:3999,0,3070	9	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N,C2orf81:NM_001316764:exon2:c.G172A:p.D58N	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023810	0.010638	0.000000	0.012605	0.000000	0.000000	0.075269	0.023810	0.1	3457.14	33	chr2	74416088	.	C	T	3457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.89;DP=550;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.331;SOR=0.688	GT:AD:DP:GQ:PL	0/1:53,74:127:99:1950,0,1174	8	0	2	0
chr2	85552980	85552980	G	A	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon8:c.C1075T:p.R359C,GGCX:NM_000821:exon9:c.C1246T:p.R416C	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3815755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.654	0.139117761361	.	.	2.471e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs751742099	4.105e-06	5.472e-06	4.084e-06	4.126e-06	2.519e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.022	0.57587	D	0.994	0.66517	D	0.67	0.53116	P	0.000048	0.53742	D	0.157296	0.999999	0.58761	D	1.79	0.46772	L	-3.02	0.92258	D	-2.1	0.47852	N	0.65	0.66101	0.650	0.92545	D	0.779	0.92505	D	10	0.6919238	0.71908	D	0.139118	0.82160	D	0.654	0.86986	0.594	0.72371	0.937555254981	0.93690	0.7282778525437841	0.72771	0.996463915584	0.74250	0.638124108315	0.58296	T	0.59871	0.87107	D	0.0218247	0.54627	T	-0.0372985	0.67884	D	0.717164218425751	0.41556	D	0.966203	0.87589	D	0.12863405	0.30066	0.093322866	0.22036	0.12863405	0.30066	0.093322866	0.22035	-9.295	0.69576	D	0.6709187007620729	0.74585	0.267	0.50101	B	.;.	.;.	5.044625	0.83989	28.2	0.99923407672963049	0.98917	0.91960	0.54637	D	AEFBI	0.695995	0.65448	D	0.577458763713903	0.71770	5.701593	0.604040849108782	0.75234	6.27445	0.999999985965612	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	3.520000	0.53221	7.551000	0.60274	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.827:0.173	11.991	0.52465	584	0.69381	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2174.43	34	chr2	85552980	.	G	A	2174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=511;ExcessHet=0;FS=2.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.92;SOR=0.565	GT:AD:DP:GQ:PL	0/1:105,87:192:99:2186,0,4063	9	0	1	0
chr2	87985747	87985747	G	A	exonic	RGPD1	.	nonsynonymous SNV	RGPD1:NM_001024457:exon1:c.C28T:p.R10C	.	577	943	2	0	0	2	0.00105932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000787956150125	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs776102347	0.0001	0.0001	9.874e-05	0.0001	0.0013	9.261e-05	8.723e-05	0.0010	0.0009	0.0005	0.0003	3.837e-05	0.0013	0	0.0005	3.982e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0004	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0006	0	0.0006	0	0.0034	5.884e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001332	0.000000	0.002890	0.000000	0.000000	0.000000	0.004310	0.000000	0.05	1554.43	34	chr2	87985747	.	G	A	1554.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.146;DP=462;ExcessHet=0;FS=4.828;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.94;MQRankSum=-3.747;QD=9.96;ReadPosRankSum=-1.212;SOR=0.404	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1566,0,2015	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,19:269:45:0|1:94876587_C_A:45,0,10312:94876587	3	0	7	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	591.14	300	chr2	94876599	.	C	T	591.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.31;DP=2159;ExcessHet=0.2348;FS=6.418;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.65;MQRankSum=-14.44;QD=1.02;ReadPosRankSum=-0.377;SOR=1.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,21:280:99:0|1:94876587_C_A:102,0,10782:94876587	8	0	2	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	0/1:300,35:335:99:.:.:417,0,7730:.	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|1:342,33:375:99:0|1:94876670_C_T:356,0,14163:94876670	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	0/1:327,45:372:99:.:.:770,0,13484:.	1	0	9	0
chr2	95275993	95275993	G	A	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.G358A:p.V120M,PROM2:NM_001165978:exon3:c.G358A:p.V120M,PROM2:NM_144707:exon3:c.G358A:p.V120M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00827766716301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294949925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.529	0.07048	T	0.476	0.12037	T	0.034	0.20480	B	0.059	0.26602	B	0.251461	0.15501	N	0.585786	0.999983	0.18198	N	1.725	0.44537	L	1.27	0.36146	T	0.52	0.02853	N	0.372	0.41459	-0.9770	0.35683	T	0.047	0.19958	T	10	0.20596513	0.36842	T	0.008278	0.21928	T	0.082	0.23913	0.713	0.84872	0.0297737177859	0.01360	0.4112654167763644	0.41042	0.34295715848	0.36226	0.385582566261	0.23045	T	0.006327	0.05765	T	-0.227224	0.17018	T	-0.564168	0.15988	T	0.0674886527935567	0.08295	T	0.691931	0.30130	T	0.023884032	0.01167	0.046522837	0.06502	0.023884032	0.01167	0.046522837	0.06502	-2.317	0.04650	T	.	.	0.124	0.26731	B	.;.;.	.;.;.	1.124282	0.15103	11.59	0.81187557590405368	0.13562	0.09527	0.15263	N	AEFDBCI	0.081175	0.16422	N	-1.49591583100846	0.01879	0.08241647	-1.45596716489262	0.02717	0.1254672	0.999960658250678	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	4.77	1.92	0.24912	0.794000	0.26619	3.327000	0.37595	-0.119000	0.14319	0.687000	0.28504	1.000000	0.68203	0.011000	0.09372	0.1731:0.1385:0.6884:0.0	7.491	0.26629	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1456.43	36	chr2	95275993	.	G	A	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.14;DP=438;ExcessHet=0;FS=1.445;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.125;SOR=0.876	GT:AD:DP:GQ:PL	0/1:73,55:128:99:1468,0,1831	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	0/1:141,53:194:99:1057,0,3762	0	0	10	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	0/1:160,127:287:99:2806,0,4224	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	0/1:172,87:259:99:2225,0,4627	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	0/1:208,23:231:76:76,0,8178	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	0/1:164,62:226:99:1455,0,4648	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	0/1:46,30:76:99:.:.:1107,0,1814:.	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|1:79,38:117:99:0|1:95859969_A_AT:1317,0,3139:95859969	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|1:80,38:118:99:0|1:95859969_A_AT:1314,0,3168:95859969	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|1:78,36:114:99:0|1:95859969_A_AT:1277,0,3106:95859969	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	0/1:83,34:117:99:1127,0,2079	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|1:82,29:111:99:0|1:95860002_T_A:970,0,3313:95860002	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|1:83,30:113:99:0|1:95860002_T_A:1009,0,3332:95860002	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|1:80,25:105:99:0|1:95860020_G_A:809,0,3229:95860020	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|1:79,22:101:99:0|1:95860020_G_A:686,0,3216:95860020	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	0/1:63,14:77:99:.:.:399,0,1744:.	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|1:105,28:133:99:0|1:95927222_G_GAT:860,0,4313:95927222	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|1:116,40:156:99:0|1:95927222_G_GAT:1330,0,4739:95927222	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|1:120,51:171:99:0|1:95927222_G_GAT:1780,0,4885:95927222	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|1:138,89:227:99:0|1:95927222_G_GAT:3322,0,5527:95927222	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|1:160,111:271:99:0|1:95927222_G_GAT:4119,0,6340:95927222	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|1:164,113:277:99:0|1:95927222_G_GAT:4150,0,6335:95927222	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|1:132,52:184:99:0|1:95929092_T_C:1728,0,5344:95929092	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|1:156,59:215:99:0|1:95929092_T_C:2008,0,6353:95929092	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|1:178,77:255:99:0|1:95929092_T_C:2697,0,7242:95929092	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|1:178,82:260:99:0|1:95929092_T_C:2907,0,7227:95929092	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|1:183,85:268:99:0|1:95929092_T_C:3018,0,7372:95929092	0	0	10	0
chr2	96354198	96354198	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G610A:p.V204I,NCAPH:NM_001281710:exon9:c.G985A:p.V329I,NCAPH:NM_001281711:exon9:c.G946A:p.V316I,NCAPH:NM_015341:exon9:c.G1018A:p.V340I	.	432	1082	8	0	0	8	0.00368324	.	.	.	3211553	NCAPH-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0055618827627	.	0.00119808	0.0009	0	0.0002	0	0.0002	7.502e-05	0.0022	0.0063	0.0007891	122	154602	rs536560583	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	4.473e-05	0	2.52e-05	5.616e-05	0.0019	6.025e-05	0.0005	0.0058	0.0003	0.0003	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0068	0.23	0.18308	T	0.351	0.36365	T	0.009	0.17989	B	0.017	0.19966	B	0.004686	0.33486	N	0.311859	0.903236	0.27659	N	1.555	0.39373	L	0.94	0.43672	T	0.04	0.06488	N	0.057	0.02964	-1.0486	0.14790	T	0.079	0.31466	T	10	0.009620041	0.00217	T	0.005562	0.14349	T	0.027	0.05988	0.493	0.58048	0.360163838653	0.35632	0.0839256415918071	0.08326	0.162679693252	0.18360	0.395833849907	0.24489	T	0.024314	0.18398	T	-0.586084	0.00177	T	-0.61245	0.11786	T	0.0147583170771568	0.00309	T	0.730127	0.34567	T	0.025312321	0.01455	0.043337874	0.05370	0.028445465	0.02183	0.040646534	0.04439	-3.93	0.22753	T	0.14988255244189536	0.17562	0.087	0.17953	B	.;.;.;.	.;.;.;.	1.788000	0.22733	15.74	0.97489165973505298	0.34230	0.64636	0.32472	D	AEFDBHCI	0.092251	0.18679	N	-0.324180257178981	0.28233	1.555503	-0.213028626270591	0.31066	1.754797	0.999956754152261	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.08	2.08	0.26079	-0.085000	0.11215	1.572000	0.27423	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.979000	0.57723	0.2839:0.0:0.5368:0.1792	3.464	0.07111	287	0.88635	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	2256.14	35	chr2	96354198	.	G	A	2256.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.404;DP=497;ExcessHet=0.2348;FS=3.926;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.004;SOR=0.487	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1042,0,1147	8	0	2	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|1:105,18:123:99:0|1:97185336_GC_G:440,0,4351:97185336	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|1:104,18:122:99:0|1:97185336_GC_G:443,0,4313:97185336	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|1:104,18:122:99:0|1:97185336_GC_G:443,0,4313:97185336	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|1:108,18:126:99:0|1:97185336_GC_G:431,0,4481:97185336	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|1:90,75:165:99:0|1:97513219_T_C:2847,0,3553:97513219	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|1:92,79:171:99:0|1:97513219_T_C:2989,0,3625:97513219	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|1:107,92:199:99:0|1:97513244_G_T:3541,0,4182:97513244	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|1:108,102:210:99:0|1:97513244_G_T:3943,0,4208:97513244	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|1:107,102:209:99:0|1:97513244_G_T:3946,0,4179:97513244	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|1:110,109:219:99:0|1:97513268_C_T:4246,0,4278:97513268	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	0/1:128,92:220:99:.:.:1844,0,4739:.	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|1:111,110:221:99:0|1:97513268_C_T:4265,0,4296:97513268	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|1:110,112:222:99:0|1:97513268_C_T:4308,0,4219:97513268	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	0/1:101,42:143:99:757,0,2422	0	0	10	0
chr2	127702037	127702037	T	C	exonic	SFT2D3	.	nonsynonymous SNV	SFT2D3:NM_032740:exon1:c.T509C:p.V170A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.177002340601	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489189643	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.04897	T	0.745	0.04895	T	0.0	0.02946	B	0.002	0.06944	B	0.040624	0.24037	N	0.352028	1	0.81001	D	-0.265	0.03777	N	0.82	0.48142	T	-0.8	0.22078	N	0.05	0.02179	-1.0344	0.19046	T	0.049	0.20789	T	10	0.08438343	0.14138	T	0.177002	0.85259	D	0.047	0.12962	0.685	0.82271	0.429552544315	0.42571	0.31859135372381026	0.31772	.	.	0.92147809267	0.98435	D	0.004095	0.03502	T	-0.264416	0.12387	T	-0.617592	0.11374	T	0.0352564996565316	0.02851	T	0.515049	0.16594	T	0.044627484	0.07166	0.05751836	0.10469	0.044627484	0.07166	0.05751836	0.10469	-2.386	0.05047	T	.	.	0.069	0.02960	B	.	.	2.053704	0.26112	17.00	0.820684231363912	0.14002	0.04116	0.09590	N	ALL	0.024546	0.01538	N	-1.13455292677325	0.06038	0.2768925	-1.06211893019878	0.08456	0.415861	0.999999999999731	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.47	-1.37	0.08582	0.380000	0.20331	-0.012000	0.13046	0.439000	0.21057	0.996000	0.39380	0.008000	0.19753	0.856000	0.40543	0.0:0.4306:0.0:0.5694	8.293	0.31132	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	.	.	.	.	.	.	.	.	0.05	309.54	7	chr2	127702037	.	T	C	309.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.598;DP=100;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.062;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.35;ReadPosRankSum=-0.808;SOR=0.132	GT:AD:DP:GQ:PL	0/1:3,13:16:75:321,0,75	9	0	1	0
chr2	130115242	130115242	T	C	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon4:c.A608G:p.D203G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.00923769273698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.59928	D	0.0	0.92824	D	0.991	0.64070	D	0.945	0.68163	D	0.000117	0.50451	D	0.000000	0.992803	0.41748	D	2.135	0.59519	M	0.23	0.85393	T	-1.51	0.86988	N	0.667	0.74371	0.202	0.85940	D	0.662	0.88246	D	10	0.6725204	0.70797	D	0.009238	0.24272	T	0.258	0.56959	0.601	0.73226	0.269558022972	0.26553	0.25822168627804276	0.25736	.	.	0.88701915741	0.94884	D	0.007383	0.06790	T	0.054995	0.58982	T	-0.15878	0.58461	T	0.707982897758484	0.41102	D	0.815918	0.78488	T	0.12013627	0.28275	0.096309125	0.22879	0.12013627	0.28275	0.096309125	0.22879	-11.6	0.82848	D	.	.	0.799	0.77227	P	.;.	.;.	2.818665	0.37125	20.4	0.99166154888982294	0.54241	0.70574	0.34647	D	AEFDI	0.161082	0.28709	N	0.020257481258202	0.42777	2.583858	-0.24790922719135	0.29844	1.675333	7.2088409215156E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.525792	0.08840	0	.	.	1.13	1.13	0.19758	4.844000	0.62544	.	.	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.0:1.0	4.529	0.11400	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2989.43	117	chr2	130115242	.	T	C	2989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=1155;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.09;MQRankSum=1.16;QD=10.75;ReadPosRankSum=-0.448;SOR=0.907	GT:AD:DP:GQ:PL	0/1:150,128:278:99:3001,0,3602	9	0	1	0
chr2	130120485	130120485	C	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon3:c.G31C:p.A11P	.	429	1054	39	0	0	39	0.0181649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0019	0.00798722	0.0046	0.0196	0.0025	0	0.0023	0.0041	0.0102	0.0028	0.0029584	77	26028	rs201109823	0.0032	0.0032	0.0031	0.0033	0.0315	0.0031	0.0031	0.0277	0.0262	0.0182	0.0033	0.0122	0	0.0014	0.0315	0.0025	0.0054	0.0030	0.0080	0.0080	0.0082	0.0077	0.0182	0.0076	0.0074	0.0171	0.0167	0.0182	0	0.0069	0.0136	0	0.0009	0.0340	0.0037	0.0071	0.0043	0.0	0.91255	D	0.002	0.79402	D	0.909	0.50183	P	0.665	0.52961	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.51	0.81399	D	-0.65	0.32791	N	0.219	0.31027	-0.6341	0.63397	T	0.381	0.73766	T	7	0.005183339	0.00113	T	.	.	.	0.156	0.40720	.	.	0.101711395817	0.09552	0.022986211366154648	0.02250	.	.	0.474681586027	0.35325	T	0.017655	0.14364	T	-0.322528	0.06693	T	-0.221786	0.52566	T	0.0378075159640915	0.03297	T	0.750425	0.37862	T	0.23493005	0.46320	0.39268032	0.64006	0.23493005	0.46320	0.39268032	0.64006	-3.384	0.14842	T	.	.	0.161	0.35477	B	.;.	.;.	1.710486	0.21783	15.35	0.99195711931916741	0.55112	0.00378	0.01916	N	AEFI	0.057807	0.10798	N	-0.668355262314807	0.16926	0.8667242	-0.938220174050629	0.11197	0.5689714	1.10476958756432E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.899000	0.28049	.	.	0.268000	0.18485	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.027027	0.012195	0.032787	0.067227	0.000000	0.052632	0.006757	0.011811	0.05	1766.43	43	chr2	130120485	.	C	G	1766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.51;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.32;MQRankSum=-3.015;QD=10.77;ReadPosRankSum=1.17;SOR=0.646	GT:AD:DP:GQ:PL	0/1:92,72:164:99:1778,0,2444	9	0	1	0
chr2	130621539	130621539	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon5:c.G880A:p.V294I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0044	0.0292	0.0017	0	0	0	0	0	3.84e-05	1	26028	rs755722598	0.0004	0.0006	0.0005	0.0004	0.0172	0.0004	0.0004	0.0161	0.0156	0.0172	0.0004	0	0	0	0	8.1e-06	0.0008	0	0.0039	0.0052	0.0040	0.0038	0.0137	0.0036	0.0035	0.0128	0.0124	0.0137	0	0.0008	0	0	0	0	4.413e-05	0.0048	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-0.18	0.65747	T	-0.18	0.09796	N	0.06	0.03175	-0.9860	0.33590	T	0.105	0.38366	T	7	0.0048311353	0.00103	T	.	.	.	0.030	0.07022	.	.	0.0884992946249	0.08302	0.047701045604350525	0.04713	.	.	.	.	.	0.015329	0.12882	T	-0.176956	0.24190	T	-0.491961	0.23186	T	0.0200937504063997	0.00710	T	0.59464	0.22023	T	0.087365285	0.20342	0.07073533	0.15064	0.087365285	0.20342	0.07073533	0.15064	-4.491	0.30770	T	.	.	0.111	0.21390	B	.	.	0.116716	0.05149	1.672	0.97199876232161309	0.32806	0.00276	0.01495	N	AEFI	0.023565	0.01332	N	-0.916889831478489	0.10448	0.49926	-1.10120874826737	0.07677	0.3743888	1.11738232398089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.755	-0.238	0.12411	-0.433000	0.07017	.	.	0.314000	0.19222	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.3493:0.0:0.6507:0.0	3.110	0.05973	970	0.06235	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	.	.	.	.	.	.	.	.	0.05	175.43	40	chr2	130621539	.	G	A	175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.236;DP=403;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.79;MQRankSum=-1.199;QD=2.11;ReadPosRankSum=0.148;SOR=0.867	GT:AD:DP:GQ:PL	0/1:68,15:83:99:187,0,1768	9	0	1	0
chr2	131046047	131046047	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375903:exon10:c.G1721A:p.R574Q,ARHGEF4:NM_001375902:exon11:c.G1778A:p.R593Q,ARHGEF4:NM_001375904:exon11:c.G1562A:p.R521Q,ARHGEF4:NM_001375900:exon13:c.G1976A:p.R659Q,ARHGEF4:NM_001367493:exon14:c.G5489A:p.R1830Q,ARHGEF4:NM_015320:exon15:c.G1931A:p.R644Q,ARHGEF4:NM_001375901:exon16:c.G1820A:p.R607Q	.	436	1076	10	0	0	10	0.00462535	.	.	.	3191776	ARHGEF4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	.	0.00479233	0.0018	0	8.655e-05	0	0	7.665e-05	0.0011	0.0128	0.0015524	240	154602	rs528934869	0.0008	0.0008	0.0005	0.0011	0.0116	0.0008	0.0007	0.0110	0.0107	5.978e-05	0	0	5.045e-05	0	0.0017	7.474e-05	0.0010	0.0116	0.0006	0.0006	0.0004	0.0008	0.0149	0.0005	0.0004	0.0122	0.0111	4.812e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0149	0.154	0.44358	T	0.338	0.37589	T	0.999	0.77913	D	0.848	0.60574	P	0.000001	0.62929	D	0.053681	0.999714	0.81001	D	1.75	0.45442	L	1.32	0.47815	T	-0.99	0.26200	N	0.089	0.38335	-0.9670	0.37814	T	0.155	0.48585	T	10	0.006344646	0.00143	T	.	.	.	0.161	0.41658	.	.	0.855232234654	0.85383	0.39499465036624204	0.39414	0.23784296459	0.26331	0.306786000729	0.11421	T	0.01817	0.33316	T	-0.3605	0.04102	T	-0.280222	0.46781	T	0.0713917149893983	0.08845	T	0.864713	0.56210	D	0.116076715	0.27383	0.065911695	0.13428	0.116076715	0.27383	0.065911695	0.13427	-3.861	0.22632	T	.	.	0.090	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	4.182598	0.62975	24.5	0.99658986777332981	0.77820	0.89590	0.50152	D	AEFDBCI	0.460313	0.51055	N	0.315934979267973	0.56967	3.862374	0.360278318778664	0.59129	4.08827	0.999999071813254	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.71	4.83	0.61880	3.611000	0.53881	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0812:0.0:0.9188:0.0	12.493	0.55251	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	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	396.43	34	chr2	131046047	.	G	A	396.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.831;SOR=0.479	GT:AD:DP:GQ:PL	0/1:23,14:37:99:408,0,599	9	0	1	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	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	0.027778	0.013889	0.032303	0.066372	0.000000	0.053571	0.015038	0.008000	0.05	969.43	33	chr2	131252927	.	T	G	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=610;ExcessHet=0;FS=6.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.26;MQRankSum=-0.902;QD=3.22;ReadPosRankSum=0.466;SOR=0.399	GT:AD:DP:GQ:PL	0/1:230,71:301:99:981,0,5357	9	0	1	0
chr2	131479422	131479422	T	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.T341A:p.I114N	.	420	1099	3	0	0	3	0.00136302	.	.	.	707721	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.424	.	.	.	0.0048	0.0514	0.0026	0	0	0.0003	0.0055	6.058e-05	0.0038421	594	154602	rs148497877	0.0002	0.0012	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0002	0	0	0	0.0003	8.994e-06	0.0005	2.319e-05	0.0014	0.0055	0.0013	0.0015	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	0.000287	0.46274	U	0.000000	0.999585	0.47691	D	.	.	.	-0.51	0.70597	T	-3.86	0.72471	D	0.97	0.98065	-0.4281	0.71128	T	0.336	0.70273	T	10	0.013592124	0.00288	T	.	.	.	0.424	0.73226	.	.	0.559044820595	0.55565	0.8252579665916356	0.82483	.	.	0.658026874065	0.61127	T	.	.	.	-0.294385	0.09201	T	-0.182667	0.56277	T	0.0711726129563591	0.08814	T	.	.	.	0.24902523	0.47894	0.29107398	0.55132	0.24902523	0.47894	0.29107398	0.55131	-11.878	0.84251	D	.	.	0.582	0.68135	P	.	.	4.190803	0.63158	24.5	0.96044983805579476	0.28544	0.79371	0.39318	D	AEFGCI	0.742309	0.68597	D	-0.09263090310879	0.37716	2.198237	-0.0865132355096149	0.35948	2.085853	0.978561469127381	0.29935	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	6.887000	0.75425	.	.	0.475000	0.22001	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	8.038	0.29662	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	1	0	0.008466	0.005051	0.020380	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	528.43	39	chr2	131479422	.	T	A	528.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.476;DP=672;ExcessHet=0;FS=1.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.08;MQRankSum=-7.03;QD=1.6;ReadPosRankSum=-0.175;SOR=0.805	GT:AD:DP:GQ:PL	0/1:273,58:331:99:540,0,7174	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	0/1:188,23:211:99:102,0,5050	8	0	2	0
chr2	137056711	137056711	G	T	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon3:c.G431T:p.R144L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0293832748762	0.0002	0.000998403	0.0009	0	0	0	0	0.0003	0.0022	0.0053	0.0007956	123	154602	rs147127072	0.0005	0.0005	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	0	0.0001	3.826e-05	0	3.745e-05	0.0014	0.0002	0.0008	0.0047	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	8.82e-05	0	0.0046	0.658	0.04772	T	0.456	0.13403	T	0.474	0.36620	P	0.22	0.37792	B	0.065785	0.21855	N	0.563993	0.998226	0.22281	N	.	.	.	0.24	0.59583	T	-1.49	0.36385	N	0.266	0.42247	-0.8758	0.50090	T	0.114	0.40627	T	10	0.012000591	0.00260	T	0.029383	0.51906	D	0.164	0.42212	.	.	0.130388298395	0.12655	0.5454276543799753	0.54468	0.599866105322	0.55088	0.229598790407	0.01938	T	0.029984	0.23505	T	-0.435596	0.01373	T	-0.396837	0.33751	T	0.0232207487730708	0.01050	T	0.582642	0.29103	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.28027	B	.;.;.	.;.;.	0.169364	0.05586	2.041	0.95669300730307494	0.27511	0.12580	0.17355	N	AEFDCI	0.138269	0.25951	N	-0.933410484128226	0.10068	0.4793741	-1.00026396637233	0.09780	0.4885643	3.10374162427468E-5	0.03498	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.503917	0.08554	0	.	.	6.07	-4.4	0.03349	-0.165000	0.09957	-1.048000	0.06492	-0.272000	0.06708	0.003000	0.16062	0.000000	0.08366	0.918000	0.45347	0.635:0.0947:0.2703:0.0	11.541	0.49920	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3421.43	33	chr2	137056711	.	G	T	3421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=715;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-0.495;SOR=0.596	GT:AD:DP:GQ:PL	0/1:101,123:224:99:3433,0,2557	9	0	1	0
chr2	137663518	137663518	G	A	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon26:c.G4594A:p.V1532M	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00526817969914	.	0.000199681	0.0004	0	0	0	0	0	0.0035	0.0022	0.0002005	31	154602	rs571404522	0.0001	0.0001	5.597e-05	0.0002	0.0019	9.844e-05	9.258e-05	0.0016	0.0016	0	0	0	0	0	0	0	6.641e-05	0.0019	9.849e-05	9.843e-05	2.569e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.085	0.32769	T	0.103	0.38305	T	.	.	.	.	.	.	0.006197	0.32207	N	0.328023	0.919821	0.27319	N	.	.	.	2.36	0.16089	T	-0.52	0.16187	N	0.189	0.22486	-1.1159	0.02608	T	0.071	0.28904	T	10	0.011755884	0.00256	T	0.005268	0.13464	T	0.151	0.39764	.	.	0.445711490874	0.44190	0.2717668069209804	0.27089	0.138909275846	0.15665	0.478206723928	0.35809	T	0.019616	0.15597	T	-0.448569	0.01152	T	-0.423591	0.30665	T	0.145036857989048	0.16701	T	0.737326	0.35372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31100	B	.;.;.	.;.;.	3.326903	0.45779	22.2	0.99781261104003049	0.86780	0.93323	0.57910	D	AEFI	.	.	.	0.217313461785539	0.52039	3.380629	0.274821124261005	0.54072	3.573506	0.00377180938983097	0.10274	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.01	5.1	0.68917	3.461000	0.52800	6.638000	0.56174	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0758:0.1355:0.7887:0.0	9.938	0.40733	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	0.001010	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	1517.43	38	chr2	137663518	.	G	A	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.616;DP=516;ExcessHet=0;FS=2.071;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.125;SOR=0.522	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1529,0,1903	9	0	1	0
chr2	142960678	142960678	G	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637C:p.D213H,KYNU:NM_003937:exon8:c.G637C:p.D213H,KYNU:NM_001199241:exon9:c.G637C:p.D213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0146019064306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.44029	T	0.028	0.54934	D	0.025	0.19245	B	0.034	0.22546	B	0.000498	0.43931	D	0.260668	0.999998	0.58761	D	2.14	0.59869	M	0.44	0.56609	T	-4.62	0.81431	D	0.522	0.55713	-0.4414	0.70683	T	0.335	0.70166	T	10	0.5629133	0.64889	D	0.014602	0.34823	T	0.184	0.45763	0.411	0.44723	0.861392150857	0.86005	0.7965275537880769	0.79605	0.0950718801951	0.10730	0.50801217556	0.39944	T	0.636928	0.88818	D	-0.00327238	0.51204	T	-0.242477	0.50558	T	0.974040567874908	0.70344	D	0.89611	0.66687	D	0.39649847	0.60489	0.39619872	0.64267	0.39649847	0.60490	0.39619872	0.64267	-9.378	0.73160	D	0.40336162957113375	0.49482	0.186	0.47997	B	.;.;.;.	.;.;.;.	3.586120	0.50577	23.0	0.99065854293338607	0.51598	0.97781	0.77086	D	AEFBI	0.896780	0.83822	D	0.496253117918684	0.66870	5.006543	0.558985198089472	0.72026	5.745163	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	38.86	34	chr2	142960678	.	G	C	38.86	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.692;DP=565;ExcessHet=0;FS=78.072;InbreedingCoeff=-0.1197;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.125;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,16:91:49:0|1:142960678_G_C:49,0,2182:142960678	7	0	1	2
chr2	142960681	142960681	T	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.T640C:p.S214P,KYNU:NM_003937:exon8:c.T640C:p.S214P,KYNU:NM_001199241:exon9:c.T640C:p.S214P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0335923142122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	5.28e-05	1.379e-06	2.78e-06	2.736e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.736e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.54683	T	0.085	0.63109	T	0.89	0.48942	P	0.819	0.59018	P	0.000196	0.48115	D	0.187417	1.000	0.48408	D	3.135	0.88152	M	0.54	0.54911	T	-3.33	0.68412	D	0.66	0.68255	-0.1945	0.77813	T	0.379	0.73602	T	10	0.7908241	0.78645	D	0.033592	0.55087	D	0.347	0.66863	0.495	0.58363	0.881554856286	0.88039	0.9049168597205036	0.90464	0.252831717914	0.27850	0.555888175964	0.46686	T	0.581067	0.86282	D	0.255126	0.79078	D	0.128694	0.78806	D	0.952440440654755	0.63793	D	0.935506	0.75876	D	0.9481054	0.96073	0.9145612	0.96013	0.9481054	0.96073	0.9145612	0.96013	-16.525	0.98447	D	0.7344959636752221	0.81630	0.734	0.77428	P	.;.;.;.	.;.;.;.	3.884118	0.56469	23.7	0.99861853130622813	0.94002	0.94682	0.61969	D	AEFBI	0.899899	0.84481	D	0.666313654930527	0.77428	6.672807	0.618650898546556	0.76293	6.46467	0.999999570512101	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	4.311000	0.58940	4.974000	0.46419	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.727000	0.35000	0.0:0.0:0.0:1.0	15.337	0.73975	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V 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	31.43	102	chr2	142960681	.	T	C	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.364;DP=562;ExcessHet=0;FS=133.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.282;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,16:93:43:0|1:142960678_G_C:43,0,2225:142960678	9	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	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	0/1:130,55:185:62:62,0,2789	2	0	7	1
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.15	2070.45	39	chr2	157799450	.	G	C	2070.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.947;DP=484;ExcessHet=0.7463;FS=1.701;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.03;SOR=0.568	GT:AD:DP:GQ:PL	0/1:41,32:73:99:726,0,1026	7	0	3	0
chr2	159194338	159194338	C	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon14:c.C2221G:p.Q741E,TANC1:NM_001350063:exon15:c.C2455G:p.Q819E,TANC1:NM_001145909:exon17:c.C2800G:p.Q934E,TANC1:NM_001350064:exon17:c.C2803G:p.Q935E,TANC1:NM_033394:exon17:c.C2824G:p.Q942E,TANC1:NM_001350065:exon18:c.C2803G:p.Q935E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0162237660375	.	.	3.313e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs766810880	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.116	0.36497	T	0.869	0.47796	P	0.636	0.51948	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.955	0.23872	L	-0.08	0.63911	T	-1.54	0.37375	N	0.435	0.47395	-0.5770	0.65736	T	0.297	0.66858	T	10	0.36412573	0.52965	T	0.016224	0.37369	T	0.197	0.47942	0.618	0.75232	0.642454921559	0.63950	0.7424170143003654	0.74187	0.826036576079	0.67408	0.603979110718	0.53465	T	0.103331	0.41188	T	-0.0618815	0.42612	T	-0.0669859	0.65841	T	0.265165030956268	0.23539	T	0.939006	0.77019	D	0.32066745	0.54696	0.34912696	0.60542	0.32066745	0.54696	0.34912696	0.60542	-11.091	0.80154	D	.	.	0.225	0.45665	B	.	.	4.267226	0.64895	24.8	0.99265193094458803	0.57356	0.97492	0.75099	D	AEFBI	0.721307	0.67159	D	0.458190575226291	0.64669	4.726754	0.531748674462113	0.70138	5.461278	0.999999999984099	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.080000	0.64267	7.682000	0.65344	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.492	0.95044	640	0.64132	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2246.43	39	chr2	159194338	.	C	G	2246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.42;DP=498;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.367;SOR=0.671	GT:AD:DP:GQ:PL	0/1:76,96:172:99:2258,0,1846	9	0	1	0
chr2	162219117	162219117	A	G	exonic	FAP	.	nonsynonymous SNV	FAP:NM_001291807:exon7:c.T478C:p.F160L,FAP:NM_004460:exon8:c.T553C:p.F185L	.	444	1071	6	1	0	8	0.00372093	.	.	.	707803	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.096	.	0.0045	0.00379393	0.0057	0.0014	0.0025	0	0.0042	0.0081	0.0045	0.0047	0.0060284	932	154602	rs78722278	0.0077	0.0078	0.0078	0.0077	0.0090	0.0076	0.0075	0.0088	0.0088	0.0012	0.0033	0.0015	2.535e-05	0.0040	0.0072	0.0090	0.0066	0.0044	0.0052	0.0052	0.0057	0.0047	0.0088	0.0049	0.0048	0.0082	0.0080	0.0016	0	0.0032	0.0014	0	0.0037	0.0068	0.0088	0.0038	0.0052	0.644	0.04943	T	0.658	0.06554	T	0.0	0.07471	B	0.0	0.37080	B	0.376956	0.13445	N	0.706810	0.989018	0.24345	N	1.73	0.44655	L	1.56	0.29602	T	-1.25	0.31576	N	0.149	0.21449	-1.0266	0.21560	T	0.046	0.19720	T	10	0.0083857775	0.00190	T	.	.	.	0.096	0.27654	0.668	0.80602	0.332646915603	0.32870	0.544332967308418	0.54359	0.11656438583	0.13151	0.381922006607	0.22530	T	0.255272	0.62604	T	-0.619776	0.00110	T	-0.652654	0.08769	T	0.0217926043882547	0.00885	T	0.461354	0.15048	T	0.15334739	0.34764	0.11879058	0.28673	0.15334739	0.34764	0.11879058	0.28673	-6.748	0.52171	T	.	.	0.593	0.71521	P	.;.;.	.;.;.	1.656862	0.21132	15.07	0.9485787993232252	0.25665	0.28551	0.23585	N	AEFBI	0.295096	0.40530	N	-0.370313798676754	0.26531	1.44876	-0.227177701955888	0.30566	1.722142	0.998519735330986	0.37109	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.71	4.48	0.53973	0.523000	0.22632	4.512000	0.43652	0.754000	0.88378	0.008000	0.17931	1.000000	0.68203	0.998000	0.85391	0.5914:0.1215:0.0:0.2871	6.017	0.18836	355	0.85216	Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.008152	0.002924	0.000000	0.000000	0.018293	0.007576	0.05	576.43	33	chr2	162219117	.	A	G	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.019;DP=351;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.729;SOR=0.678	GT:AD:DP:GQ:PL	0/1:16,27:43:99:588,0,366	9	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2238.14	35	chr2	162268086	.	C	T	2238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.375;DP=454;ExcessHet=0.2348;FS=0.615;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.77;SOR=0.619	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1120,0,957	8	0	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	436	1075	9	2	0	13	0.00601017	.	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, 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	0.004028	0.000000	0.006793	0.005848	0.050000	0.008621	0.003049	0.000000	0.1	2010.14	33	chr2	162276886	.	G	A	2010.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.681;DP=461;ExcessHet=0.2348;FS=0.57;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.929;SOR=0.608	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1057,0,1282	8	0	2	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N,CHN1:NM_001822:exon6:c.G514A:p.D172N,CHN1:NM_001025201:exon7:c.G514A:p.D172N,CHN1:NM_001371513:exon7:c.G514A:p.D172N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	329.05	76	chr2	174877875	.	C	T	329.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.755;DP=712;ExcessHet=0;FS=124.89;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=2.03;SOR=7.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:174877873_A_G:340,0,2047:174877873	8	0	1	1
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L,OSBPL6:NM_001201480:exon4:c.C173T:p.P58L,OSBPL6:NM_001201481:exon4:c.C173T:p.P58L,OSBPL6:NM_001201482:exon4:c.C173T:p.P58L,OSBPL6:NM_032523:exon4:c.C173T:p.P58L	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.006793	0.011696	0.000000	0.000000	0.015244	0.045455	0.05	794.43	34	chr2	178324247	.	C	T	794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.005;DP=376;ExcessHet=0;FS=2.235;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.55;SOR=1.087	GT:AD:DP:GQ:PL	0/1:28,32:60:99:806,0,720	9	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6475.1	35	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	6475.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.51;DP=861;ExcessHet=0.2348;FS=1.231;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-5.222;SOR=0.838	GT:AD:DP:GQ:PL	0/1:185,124:309:99:4589,0,7329	8	0	2	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	0/1:12,22:39:95:.:.:142,0,95:.	4	0	4	2
chr2	190294624	190294624	C	T	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.G226A:p.E76K,HIBCH:NM_198047:exon4:c.G226A:p.E76K	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	952868	3-hydroxyisobutyryl-CoA_hydrolase_deficiency	Human_Phenotype_Ontology:HP:6000215,MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.657	0.0987548746421	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs778434126	1.305e-05	1.71e-05	1.23e-05	1.38e-05	0.0022	8.34e-06	6.72e-06	0.0012	0.0010	2.999e-05	0	0	0	0	0.0022	5.416e-06	1.663e-05	0	1.314e-05	1.313e-05	2.572e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.083	0.43085	T	0.268	0.22494	T	0.98	0.65571	D	0.753	0.56122	P	0.000000	0.84330	D	0.047076	1	0.81001	D	1.44	0.36004	L	-0.36	0.73523	T	-2.95	0.63323	D	0.904	0.91047	-0.0475	0.81260	T	0.456	0.78802	T	10	0.79898924	0.79329	D	0.098755	0.76995	D	0.657	0.87135	0.506	0.60078	0.892757099709	0.89169	0.831023251482803	0.83061	0.205256797494	0.22944	0.535796582699	0.43852	T	0.521707	0.92004	D	0.247592	0.78374	D	0.22553	0.84451	D	0.935854852199554	0.60440	D	0.985868	0.95230	D	0.8859431	0.90162	0.6520371	0.79637	0.8859431	0.90163	0.6520371	0.79638	-9.802	0.72718	D	0.3163981401283377	0.41444	0.418	0.66138	A	.;.;.	.;.;.	4.225085	0.63937	24.6	0.99891492711594565	0.96513	0.97481	0.75027	D	AEFBI	0.809437	0.73295	D	0.602451348370505	0.73329	5.948426	0.602602220248434	0.75127	6.25619	0.998787008920485	0.37667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.876000	0.75358	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.043	0.80498	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	740.43	34	chr2	190294624	.	C	T	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.495;DP=413;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.34;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,34:81:99:752,0,1137	9	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	0/1:43,27:70:99:192,0,661	1	0	6	3
chr2	199819526	199819526	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.442_443insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0174	0.0077	0	0	.	0.0237	0.0128	0.0161	0.0008452	22	26028	rs761406357	0.0044	0.0080	0.0044	0.0044	0.0053	0.0043	0.0042	0.0051	0.0050	0.0032	0.0029	0.0074	0.0005	0.0037	0.0047	0.0053	0.0050	0.0023	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.76e-05	0.0001	0	0.0001	0.0003	0	0.0005	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1766.4	44	chr2	199819526	.	T	TAA	1766.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.524;DP=324;ExcessHet=8.8523;FS=0;InbreedingCoeff=-0.6077;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=0.391;SOR=0.667	GT:AD:DP:GQ:PL	0/1:4,7:33:57:610,358,449	9	0	1	0
chr2	201492473	201492473	A	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.T3868C:p.F1290L	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00159744	0.0065	0.0006	0.0199	0	0	0.0015	0.0140	0.0130	0.0010349	160	154602	rs184129762	0.0015	0.0014	0.0011	0.0019	0.0143	0.0014	0.0014	0.0118	0.0114	0.0002	0.0010	3.989e-05	2.811e-05	5.722e-05	0.0143	0.0008	0.0018	0.0123	0.0010	0.0010	0.0008	0.0011	0.0108	0.0008	0.0008	0.0084	0.0076	0.0001	0.0055	0.0006	0	0	9.43e-05	0.0034	0.0010	0.0024	0.0108	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	2.14	0.00347	N	0.066	0.03841	-0.9864	0.33494	T	0.034	0.14769	T	9	0.002725631	0.00042	T	.	.	.	0.042	0.11227	0.213	0.13210	0.0401082797425	0.02173	0.020741532748635407	0.02027	0.15686944455	0.17710	0.318503677845	0.13194	T	.	.	.	-0.712102	0.00031	T	-0.784631	0.02316	T	0.000877498213199432	0.00008	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-3.04	0.10618	T	.	.	0.337	0.55713	B	.	.	0.905654	0.12797	9.314	0.71116001165546405	0.09520	0.00296	0.01581	N	AEFBI	0.022213	0.01082	N	-1.01495353258299	0.08293	0.3883259	-0.902287385471047	0.12041	0.6170562	2.09519457158267E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	2.04	0.25787	0.661000	0.24706	.	.	-0.274000	0.06627	0.001000	0.13787	0.970000	0.29701	0.899000	0.43558	0.2915:0.0:0.5406:0.1679	4.590	0.11694	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009511	0.000000	0.000000	0.011905	0.000000	0.000000	0.017857	0.027027	0.05	1324.43	34	chr2	201492473	.	A	G	1324.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.566;DP=439;ExcessHet=0;FS=3.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.78;SOR=0.78	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1336,0,1843	9	0	1	0
chr2	202983529	202983529	A	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001352679:exon13:c.A1051T:p.I351F,CARF:NM_001282912:exon14:c.A1819T:p.I607F,CARF:NM_001352676:exon14:c.A1525T:p.I509F,CARF:NM_001352678:exon14:c.A1051T:p.I351F,CARF:NM_001282910:exon15:c.A1855T:p.I619F,CARF:NM_001322429:exon15:c.A2047T:p.I683F,CARF:NM_001104586:exon16:c.A2083T:p.I695F,CARF:NM_001282911:exon16:c.A1855T:p.I619F,CARF:NM_001322428:exon16:c.A2083T:p.I695F,CARF:NM_001322427:exon17:c.A2083T:p.I695F,CARF:NM_024744:exon17:c.A2083T:p.I695F	.	447	1069	6	0	0	6	0.00279851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.00300504959566	0.0002	.	0.0003	0	0.0002	0	0	4.531e-05	0	0.0019	0.0002587	40	154602	rs201849758	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0001	7.676e-05	0	0	0.0012	9.374e-05	0.0003	0.0019	0.0001	0.0001	0.0001	0.0002	0.0019	9.151e-05	7.706e-05	0.0010	0.0007	7.236e-05	0	0	0	0	0	0.0032	0.0001	0.0005	0.0019	0.005	0.63226	D	0.326	0.18789	T	0.013	0.16609	B	0.007	0.12992	B	0.000629	0.42799	D	0.104288	0.573	0.32313	D	2.28	0.64929	M	.	.	.	-0.72	0.20358	N	0.274	0.42834	-0.9403	0.42568	T	0.107	0.38832	T	9	0.016831487	0.00356	T	0.003005	0.06427	T	0.173	0.43840	.	.	0.250039746154	0.24611	0.24507498920419754	0.24421	0.317966989377	0.34026	0.341754376888	0.16701	T	0.131616	0.46122	T	-0.311242	0.07639	T	-0.227117	0.52051	T	0.0734342166171135	0.09124	T	0.839916	0.51465	T	0.15259795	0.34633	0.08874653	0.20711	0.15259795	0.34633	0.08874653	0.20711	-3.78	0.20506	T	.	.	0.080	0.13783	B	.;.;.;.;.	.;.;.;.;.	1.601493	0.20470	14.77	0.95508755904834319	0.27110	0.62598	0.31830	D	AEFGI	0.119999	0.23396	N	-0.368050891942807	0.26615	1.453846	-0.234159537018009	0.30322	1.706	5.69325078014256E-4	0.07335	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.63	3.47	0.38831	0.430000	0.21147	.	.	0.756000	0.94297	0.908000	0.31627	0.224000	0.23735	0.990000	0.65344	0.9066:0.0:0.0934:0.0	8.101	0.30015	457	0.78953	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	830.43	34	chr2	202983529	.	A	T	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.145;DP=375;ExcessHet=0;FS=9.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.811;SOR=0.176	GT:AD:DP:GQ:PL	0/1:34,36:70:99:842,0,984	9	0	1	0
chr2	209678637	209678637	C	A	exonic	MAP2	.	nonsynonymous SNV	MAP2:NM_001363911:exon5:c.C328A:p.Q110K,MAP2:NM_001363913:exon5:c.C328A:p.Q110K,MAP2:NM_001375494:exon5:c.C328A:p.Q110K,MAP2:NM_001375499:exon5:c.C328A:p.Q110K,MAP2:NM_001375502:exon5:c.C328A:p.Q110K,MAP2:NM_001375509:exon5:c.C328A:p.Q110K,MAP2:NM_001375510:exon5:c.C328A:p.Q110K,MAP2:NM_001375526:exon5:c.C328A:p.Q110K,MAP2:NM_001375527:exon5:c.C328A:p.Q110K,MAP2:NM_001375528:exon5:c.C328A:p.Q110K,MAP2:NM_001375529:exon5:c.C328A:p.Q110K,MAP2:NM_001375530:exon5:c.C328A:p.Q110K,MAP2:NM_001375531:exon5:c.C328A:p.Q110K,MAP2:NM_001375532:exon5:c.C328A:p.Q110K,MAP2:NM_001375533:exon5:c.C328A:p.Q110K,MAP2:NM_001375535:exon5:c.C328A:p.Q110K,MAP2:NM_001375536:exon5:c.C328A:p.Q110K,MAP2:NM_001375537:exon5:c.C328A:p.Q110K,MAP2:NM_001375538:exon5:c.C328A:p.Q110K,MAP2:NM_001375539:exon5:c.C328A:p.Q110K,MAP2:NM_001375540:exon5:c.C328A:p.Q110K,MAP2:NM_001375541:exon5:c.C328A:p.Q110K,MAP2:NM_001375542:exon5:c.C328A:p.Q110K,MAP2:NM_001375543:exon5:c.C328A:p.Q110K,MAP2:NM_001375544:exon5:c.C328A:p.Q110K,MAP2:NM_001375545:exon5:c.C328A:p.Q110K,MAP2:NM_001375546:exon5:c.C328A:p.Q110K,MAP2:NM_001375548:exon5:c.C328A:p.Q110K,MAP2:NM_002374:exon5:c.C328A:p.Q110K,MAP2:NM_031845:exon5:c.C328A:p.Q110K,MAP2:NM_031847:exon5:c.C328A:p.Q110K,MAP2:NM_001039538:exon6:c.C328A:p.Q110K,MAP2:NM_001363910:exon6:c.C328A:p.Q110K,MAP2:NM_001375474:exon6:c.C328A:p.Q110K,MAP2:NM_001375495:exon6:c.C328A:p.Q110K,MAP2:NM_001375496:exon6:c.C328A:p.Q110K,MAP2:NM_001375497:exon6:c.C328A:p.Q110K,MAP2:NM_001375498:exon6:c.C328A:p.Q110K,MAP2:NM_001375500:exon6:c.C328A:p.Q110K,MAP2:NM_001375501:exon6:c.C328A:p.Q110K,MAP2:NM_001375503:exon6:c.C328A:p.Q110K,MAP2:NM_001375504:exon6:c.C328A:p.Q110K,MAP2:NM_001375505:exon6:c.C328A:p.Q110K,MAP2:NM_001375506:exon6:c.C328A:p.Q110K,MAP2:NM_001375507:exon6:c.C328A:p.Q110K,MAP2:NM_001375508:exon6:c.C328A:p.Q110K,MAP2:NM_001375534:exon6:c.C328A:p.Q110K,MAP2:NM_001375583:exon6:c.C328A:p.Q110K,MAP2:NM_001375493:exon7:c.C328A:p.Q110K	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.015733869454	0.0004	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003363	52	154602	rs138065981	0.0005	0.0005	0.0005	0.0006	0.0059	0.0005	0.0005	0.0044	0.0038	0.0001	0.0003	0.0003	0	0	0.0059	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	7.223e-05	0	0.0005	0.0006	0	0	0	0.0006	0.0009	0.0002	0.001	0.91255	D	0.923	0.92824	T	0.997	0.70673	D	0.977	0.78936	D	0.000088	0.51296	D	0.000000	0.999917	0.51042	D	2.175	0.60977	M	2.03	0.20959	T	-0.57	0.67241	N	0.456	0.54757	-1.1130	0.02824	T	0.074	0.30023	T	10	0.055562258	0.06092	T	0.015734	0.36624	T	0.196	0.47777	.	.	0.268702046668	0.26493	0.39222613536877304	0.39137	0.411919561254	0.41941	0.77146166563	0.77643	T	0.434603	0.78163	T	-0.257727	0.13167	T	-0.250499	0.49767	T	0.0715834465914999	0.08871	T	0.978627	0.92475	D	0.36543626	0.58246	0.2970841	0.55741	0.36543626	0.58246	0.2970841	0.55741	-3.15	0.11879	T	.	.	0.222	0.51891	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.475762	0.69783	25.4	0.99587142264947204	0.73395	0.98265	0.81073	D	AEFGI	0.752294	0.69284	D	0.358737731209353	0.59202	4.097746	0.427853965149935	0.63305	4.56179	0.999999861544069	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	6.494000	0.73569	5.898000	0.50850	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.412	0.90499	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	532.43	35	chr2	209678637	.	C	A	532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.394;DP=359;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.381;SOR=0.963	GT:AD:DP:GQ:PL	0/1:26,23:49:99:544,0,621	9	0	1	0
chr2	216122121	216122121	G	A	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon6:c.G551A:p.R184H	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00403088899827	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0	6.066e-05	0.0001294	20	154602	rs61752200	9.851e-05	9.85e-05	8.168e-05	0.0001	0.0038	8.511e-05	7.981e-05	0.0026	0.0022	2.987e-05	4.472e-05	3.826e-05	0	0	0.0038	8.903e-05	0.0001	0.0001	0.0001	0.0001	8.994e-05	0.0002	0.0008	8.66e-05	7.252e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0.0034	0.0001	0.0005	0.0008	0.179	0.22053	T	0.303	0.20164	T	0.001	0.07471	B	0.002	0.06944	B	0.001745	0.00822	N	2.651550	1	0.08975	N	0.06	0.08197	N	1.48	0.31731	T	0.36	0.03700	N	0.116	0.10483	-1.0663	0.10246	T	0.048	0.20355	T	10	0.03489968	0.01716	T	0.004031	0.09587	T	0.020	0.03691	.	.	0.257342827899	0.25358	0.20059215172771536	0.19976	0.971778868319	0.73390	0.260984778404	0.05008	T	0.111173	0.42646	T	-0.490415	0.00646	T	-0.705555	0.05527	T	0.0205425225578992	0.00754	T	0.369963	0.08710	T	0.03827622	0.05070	0.038111523	0.03610	0.03827622	0.05070	0.038111523	0.03609	-4.249	0.27455	T	.	.	0.065	0.01909	B	.;.	.;.	-0.453521	0.02021	0.181	0.78634872101477438	0.12386	0.06657	0.12675	N	AEFBCI	0.115376	0.22687	N	-1.75245388934732	0.00672	0.02900261	-1.90625382178999	0.00476	0.02107284	0.999999996246622	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	-10.2	0.00305	-2.533000	0.01017	-3.551000	0.02702	-0.892000	0.02379	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3868:0.3753:0.0881:0.1498	4.092	0.09446	875	0.30485	Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A;Ku70/Ku80, N-terminal alpha/beta|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	0.001008	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.05	727.43	36	chr2	216122121	.	G	A	727.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.468;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.601;SOR=0.733	GT:AD:DP:GQ:PL	0/1:26,31:57:99:739,0,590	9	0	1	0
chr2	217809892	217809892	G	A	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon28:c.C4850T:p.T1617M,TNS1:NM_001308023:exon28:c.C4829T:p.T1610M,TNS1:NM_022648:exon30:c.C4892T:p.T1631M	.	420	1101	1	0	0	1	0.000453926	.	.	.	2364013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0352747906961	.	.	7.417e-05	9.614e-05	0.0003	0	0	5.997e-05	0	6.058e-05	5.82e-05	9	154602	rs758979599	5.2e-05	5.2e-05	4.902e-05	5.502e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.953e-05	2.987e-05	0.0001	0	5.038e-05	3.745e-05	0.0003	4.498e-05	9.936e-05	8.117e-05	9.201e-05	9.193e-05	8.994e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	5.842e-05	4.239e-05	4.827e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.122	0.27663	T	0.066	0.53426	T	1.0	0.90584	D	0.955	0.69585	D	0.000145	0.49130	D	0.137270	0.683874	0.33260	D	1.39	0.34934	L	1.51	0.30937	T	-1.99	0.45949	N	0.523	0.56662	-1.0350	0.18857	T	0.109	0.39320	T	10	0.22896606	0.39814	T	0.035275	0.56238	D	0.137	0.36984	0.44	0.49484	0.266724437049	0.26276	0.25080430415334676	0.24994	0.586849640528	0.54273	0.568106532097	0.48410	T	0.068177	0.33390	T	-0.250291	0.14062	T	-0.3716	0.36702	T	0.330059379339218	0.26227	T	0.911709	0.71494	D	0.04405431	0.06974	0.07519513	0.16528	0.04405431	0.06973	0.07519513	0.16528	-4.125	0.25658	T	.	.	0.074	0.07365	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.264420	0.64833	24.8	0.99781381184217377	0.86780	0.96498	0.69439	D	AEFDBI	0.472845	0.51778	N	0.291477854118713	0.55716	3.735686	0.285883904583775	0.54715	3.635622	0.999998418780407	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.38	3.5	0.39181	6.708000	0.74483	7.613000	0.61989	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0826:0.0:0.9174:0.0	12.280	0.54076	940	0.13648	Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	797.43	38	chr2	217809892	.	G	A	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.36;SOR=0.58	GT:AD:DP:GQ:PL	0/1:39,29:68:99:809,0,939	9	0	1	0
chr2	218072830	218072830	C	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon6:c.C331A:p.R111S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0143507460869	.	0.00139776	0.0004	0.0029	0.0034	0	0	0	0	0	0.0001617	25	154602	rs139730449	0.0001	0.0001	0.0002	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0003	0	0	0	0.0012	3.431e-05	0.0006	2.53e-05	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	0.0003	0	0	0	0	8.819e-05	0.0024	0	0.019	0.61437	D	0.031	0.57587	D	.	.	.	.	.	.	0.635928	0.10643	N	0.768768	1	0.81001	D	1.1	0.28011	L	1.62	0.28189	T	-1.73	0.41239	N	0.391	0.47949	-1.0259	0.21788	T	0.075	0.30086	T	8	0.011500865	0.00251	T	0.014351	0.34408	T	0.134	0.36365	0.577	0.70217	0.527958119908	0.52444	0.26982269490165733	0.26895	0.051584769685	0.05677	0.282365530729	0.07825	T	0.023188	0.23072	T	-0.445911	0.01194	T	-0.416348	0.31495	T	0.0338290306445298	0.02609	T	0.636336	0.25008	T	0.2544487	0.48473	0.22803141	0.47832	0.2544487	0.48473	0.22803141	0.47831	-8.574	0.64917	D	.	.	0.312	0.53936	B	.;.	.;.	2.747361	0.36003	20.1	0.9786890060290212	0.36520	0.81991	0.41290	D	AEFDBHCI	0.756317	0.69562	D	-0.120842671469494	0.36484	2.109609	-0.140111393588641	0.33790	1.936693	0.999999844529767	0.74766	0.65861	0.49226	0	0.61073	0.52368	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	4.08	4.08	0.46880	3.670000	0.54305	2.480000	0.32936	0.545000	0.25583	0.990000	0.36992	0.868000	0.27561	0.194000	0.21720	0.0:1.0:0.0:0.0	14.607	0.68081	894	0.26265	RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN 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	0.001182	0.000000	0.018519	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1152.43	35	chr2	218072830	.	C	A	1152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=443;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.322;SOR=0.496	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1164,0,1374	9	0	1	0
chr2	218083120	218083120	G	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon11:c.G1366A:p.E456K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0186849884476	0.0012	0.000399361	0.0006	0.0001	8.693e-05	0	0	0.0010	0.0011	0	0.0005433	84	154602	rs200129236	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0007	0.0001	0.0149	2.519e-05	0	0.0015	0.0001	0.0017	2.32e-05	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0002	0.0002	0.0002	0	0	0.0159	0	0	0	0.0004	0.0009	0	0.004	0.65419	D	0.025	0.56640	D	0.888	0.48822	P	0.287	0.40572	B	0.028882	0.25534	N	0.277746	0.999881	0.31661	N	1.845	0.48678	L	0.36	0.57880	T	-1.66	0.50175	N	0.489	0.52297	-1.0068	0.27912	T	0.068	0.27913	T	10	0.0051163733	0.00111	T	0.018685	0.40835	T	0.045	0.12272	.	.	0.552980905328	0.54955	0.20619499349635356	0.20536	0.0534819132666	0.05892	0.432508707047	0.29552	T	0.055442	0.30008	T	-0.290384	0.09598	T	-0.338737	0.40487	T	0.0154080583417271	0.00345	T	0.827217	0.49813	T	0.1329763	0.30946	0.14783856	0.34969	0.1329763	0.30946	0.14783856	0.34969	-6.404	0.49540	T	.	.	0.134	0.28976	B	.;.	.;.	3.981834	0.58545	24.0	0.99352112623511657	0.60615	0.68777	0.33931	D	AEFDBI	0.099755	0.20073	N	-0.0543728196602777	0.39407	2.323422	0.0141178274503136	0.40368	2.408114	0.999903451704761	0.45458	0.553676	0.25195	0	0.378119	0.05977	1	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.83	2.89	0.32713	1.620000	0.36586	6.511000	0.55808	0.657000	0.54293	0.965000	0.33920	1.000000	0.68203	0.898000	0.43474	0.0:0.2674:0.7326:0.0	8.391	0.31691	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	0.004582	0.000000	0.012295	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1906.43	34	chr2	218083120	.	G	A	1906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.656;DP=427;ExcessHet=0;FS=6.454;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=3.06;SOR=0.98	GT:AD:DP:GQ:PL	0/1:35,77:112:99:1918,0,743	9	0	1	0
chr2	218217496	218217496	G	C	exonic	ARPC2	.	nonsynonymous SNV	ARPC2:NM_005731:exon1:c.G26C:p.R9P,ARPC2:NM_152862:exon2:c.G26C:p.R9P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.104189998129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.277	0.60337	T	0.998	0.73220	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.72	0.79541	M	.	.	.	-4.67	0.85247	D	0.866	0.86297	-0.1087	0.79898	T	0.459	0.78981	T	9	0.8234941	0.81540	D	0.10419	0.77863	D	0.513	0.79156	0.502	0.59460	0.703440646678	0.70086	0.9333937753216618	0.93318	2.37341502255	0.96965	0.81335234642	0.84006	D	0.315394	0.68700	T	0.398118	0.89803	D	0.334093	0.89675	D	0.998154938220978	0.93375	D	0.916908	0.72182	D	0.95587873	0.96863	0.92379576	0.96664	0.95587873	0.96863	0.92379576	0.96665	-3.952	0.23083	T	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.392167	0.90332	31	0.99638235360310656	0.76510	0.83946	0.43035	D	ALL	0.958715	0.97865	D	0.869358285525551	0.90180	10.28843	0.837871592239494	0.92288	11.34079	0.999999999999366	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.45	5.45	0.79688	6.355000	0.72985	9.595000	0.81054	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.235	0.86879	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	325.43	52	chr2	218217496	.	G	C	325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.16;DP=423;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=0.74;SOR=0.628	GT:AD:DP:GQ:PL	0/1:34,17:51:99:337,0,865	9	0	1	0
chr2	218367740	218367740	C	T	exonic	CATIP	.	nonsynonymous SNV	CATIP:NM_001320865:exon10:c.C973T:p.H325Y,CATIP:NM_198559:exon10:c.C940T:p.H314Y	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0262518304468	0.0006	0.000798722	0.0009	0.0004	0.0004	0	0	0.0014	0.0020	0	0.0005369	83	154602	rs150944493	0.0005	0.0005	0.0005	0.0005	0.0031	0.0004	0.0004	0.0020	0.0017	0.0006	0.0002	0.0147	0	0	0.0031	0.0001	0.0015	3.513e-05	0.0006	0.0006	0.0006	0.0007	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0	6.533e-05	0.0147	0	0	0.0034	0.0004	0.0014	0	0.223	0.18757	T	0.071	0.43531	T	0.461	0.36363	P	0.136	0.33270	B	0.000495	0.43931	D	0.230900	0.993053	0.41822	D	2.24	0.63355	M	.	.	.	-3.1	0.63554	D	0.492	0.52563	-0.7493	0.57972	T	0.181	0.52767	T	9	0.0077836215	0.00177	T	0.026252	0.49171	D	0.142	0.37995	.	.	0.607079148747	0.60392	0.8207463829069734	0.82031	0.434749923973	0.43605	.	.	.	0.314752	0.68641	T	-0.180417	0.23675	T	-0.168972	0.57538	T	0.442093282938004	0.30506	T	0.763824	0.39073	T	0.25898048	0.48949	0.36099914	0.61532	0.25898048	0.48949	0.36099914	0.61531	-8.469	0.64224	D	.	.	0.195	0.41602	B	.	.	3.554999	0.49998	22.9	0.85886972175312049	0.16175	0.96071	0.67401	D	AEFGBHCIJ	0.544703	0.55952	D	0.017719886886968	0.42660	2.574669	0.0581083538128608	0.42465	2.568987	0.99999999999978	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	4.9	4.9	0.63643	3.984000	0.56632	5.789000	0.49856	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.390000	0.26558	0.0:1.0:0.0:0.0	17.671	0.88120	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.017663	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	559.48	36	chr2	218367740	.	C	T	559.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0567;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.637;SOR=0.738	GT:AD:DP:GQ:PL	0/1:21,19:40:99:571,0,540	9	0	1	0
chr2	219178513	219178513	C	G	exonic	RETREG2	.	nonsynonymous SNV	RETREG2:NM_024293:exon1:c.C161G:p.T54R	.	387	1129	6	0	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	.	0.00119808	0.0044	0.0034	0	0	0	0	0	0.0108	0.0002264	35	154602	rs556058840	0.0002	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0037	0.0036	4.129e-05	0	0	0	2.932e-05	0.0005	2.68e-05	0.0004	0.0041	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.243e-05	0.0028	0.0023	0	0	0	0	0.0002	0	0	2.942e-05	0.0005	0.0042	0.022	0.48642	D	0.085	0.41074	T	0.181	0.29111	B	0.022	0.19653	B	0.010796	0.29783	N	0.311804	0.811917	0.28990	N	.	.	.	1.52	0.30669	T	-0.51	0.15986	N	0.286	0.32370	-1.0649	0.10572	T	0.038	0.16505	T	10	0.0051938593	0.00113	T	.	.	.	0.063	0.18251	0.464	0.53404	0.117191471859	0.11215	0.3117791947927422	0.31090	0.208122492365	0.23283	0.945761620998	0.99645	D	0.005132	0.04570	T	-0.460042	0.00983	T	-0.432779	0.29619	T	0.0543628626999794	0.06250	T	0.530047	0.17581	T	0.07831767	0.17829	0.11772964	0.28420	0.07831767	0.17828	0.11772964	0.28420	-1.647	0.02094	T	.	.	0.115	0.23113	B	.	.	2.520039	0.32562	19.08	0.92797263799539431	0.22319	0.94190	0.60386	D	ALL	0.198985	0.32581	N	-0.378774148038991	0.26227	1.429756	-0.24696250717891	0.29875	1.677426	0.999999999280449	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	4.19	3.28	0.36691	1.932000	0.39773	1.542000	0.27234	-0.309000	0.06099	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.2081:0.6907:0.0:0.1012	5.818	0.17768	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002805	0.000000	0.002041	0.007752	0.000000	0.000000	0.000000	0.000000	0.05	375.43	33	chr2	219178513	.	C	G	375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-2.429;SOR=0.804	GT:AD:DP:GQ:PL	0/1:34,17:51:99:387,0,780	9	0	1	0
chr2	236392065	236392065	C	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon10:c.G1201A:p.E401K,IQCA1:NM_001270585:exon11:c.G1345A:p.E449K,IQCA1:NM_024726:exon11:c.G1324A:p.E442K	.	430	1090	1	1	0	3	0.00137426	.	.	.	3274834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.791	0.248301215959	.	0.000199681	2.484e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs531718193	6.159e-06	6.156e-06	1.362e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	4.498e-06	1.657e-05	3.478e-05	6.563e-06	6.561e-06	0	1.342e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.071	0.60972	T	0.931	0.51899	P	0.566	0.49756	P	0.000035	0.55875	D	0.000000	0.999866	0.50061	D	.	.	.	-3.84	0.95826	D	-3.12	0.63782	D	0.531	0.55972	1.034	0.97789	D	0.914	0.97147	D	10	0.43228185	0.57569	T	0.248301	0.89004	D	0.791	0.93108	0.43	0.47843	0.799318804817	0.79744	0.43483806764513905	0.43400	0.26906606016	0.29422	0.616847395897	0.55284	T	0.100519	0.40640	T	0.265277	0.80014	D	0.240129	0.85152	D	0.939521193504333	0.61105	D	0.930207	0.74183	D	0.434774	0.63064	0.35814106	0.61295	0.434774	0.63065	0.35814106	0.61295	-10.488	0.76778	D	.	.	0.158	0.38818	B	.;.;.	.;.;.	4.474945	0.69770	25.4	0.99890277745731437	0.96436	0.94083	0.60061	D	AEFBI	0.471470	0.51700	N	0.636983693576377	0.75527	6.322097	0.631230612236041	0.77221	6.637501	0.999996880180609	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.45	5.45	0.79688	3.852000	0.55642	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.081	0.86473	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	766.43	35	chr2	236392065	.	C	T	766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.059;DP=396;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.746;SOR=0.501	GT:AD:DP:GQ:PL	0/1:43,30:73:99:778,0,1243	9	0	1	0
chr2	237829503	237829503	G	A	splicing	RBM44	NM_001080504:exon13:c.2886+1G>A	.	.	.	432	1087	3	0	0	3	0.00137804	1.0000	0.74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.693e-06	0	0	0	0	0	0	7.084e-05	6.5e-06	1	154602	rs752073129	2.064e-06	2.052e-06	1.368e-06	2.767e-06	2.356e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	0	1.669e-05	2.356e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053832	0.58835	T	-0.057507	0.66506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.937596	0.81456	27.6	0.98563371276581047	0.43012	0.88797	0.48900	D	AEFI	.	.	.	0.840581064304605	0.88565	9.626404	0.608889785560796	0.75585	6.336499	0.9460824412164	0.27690	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.057018	0.00518	0	0.942246	0.60427	4.37	4.37	0.51830	4.305000	0.58905	11.398000	0.92662	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	0.0:0.0:1.0:0.0	12.802	0.56974	982	0.03397	.;.;.	.	.	.	.	.	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	669.43	34	chr2	237829503	.	G	A	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.408;SOR=0.608	GT:AD:DP:GQ:PL	0/1:49,28:77:99:681,0,1298	9	0	1	0
chr2	240011654	240011654	C	T	exonic	NDUFA10	.	nonsynonymous SNV	NDUFA10:NM_001322019:exon6:c.G712A:p.E238K,NDUFA10:NM_001322020:exon6:c.G712A:p.E238K,NDUFA10:NM_004544:exon6:c.G712A:p.E238K	Leigh syndrome, Autosomal recessive, Mitochondrial	0	1488	33	1	0	35	0.011624	.	.	.	142140	Leigh_syndrome|Mitochondrial_complex_I_deficiency,_nuclear_type_1|Mitochondrial_complex_1_deficiency,_nuclear_type_22|not_specified|not_provided	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.944	.	0.0054	0.00279553	0.0054	0.0002	0.0090	0.0001	0.0009	0.0070	0.0055	0.0039	0.0055562	859	154602	rs35462421	0.0064	0.0065	0.0064	0.0064	0.0089	0.0063	0.0063	0.0082	0.0079	0.0007	0.0089	0.0049	2.519e-05	0.0013	0.0078	0.0071	0.0075	0.0042	0.0057	0.0057	0.0061	0.0053	0.0094	0.0054	0.0053	0.0084	0.0081	0.0013	0	0.0094	0.0046	0	0.0003	0.0068	0.0090	0.0085	0.0046	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	-4.65	0.97938	D	-3.44	0.71997	D	0.85	0.85132	0.909	0.95808	D	0.939	0.97992	D	10	0.015003979	0.00339	T	.	.	.	0.944	0.98851	.	.	0.998418483434	0.99840	0.686272988779664	0.68567	0.675064112378	0.59680	0.497707843781	0.38508	T	0.635256	0.88747	D	0.201883	0.74068	D	0.524463	0.95107	D	0.0317793008590996	0.02271	T	.	.	.	0.8467275	0.87094	0.7498531	0.85214	0.8685694	0.88750	0.7033316	0.82516	-11.085	0.80122	D	0.7238999482498457	0.80517	0.933	0.85307	P	.;.;.;.;.;.	.;.;.;.;.;.	5.074703	0.84663	28.4	0.99931280116912635	0.99387	0.95946	0.66841	D	AEFDBCI	0.680303	0.64404	D	0.777496287506538	0.84680	8.355947	0.687277347417095	0.81413	7.520644	0.999999990447188	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	6.516000	0.73665	7.141000	0.57652	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	14.478	0.67141	970	0.06235	.;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.020202	0.008152	0.005848	0.050000	0.008621	0.015244	0.011364	0.05	962.43	33	chr2	240011654	.	C	T	962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.614;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.227;SOR=0.743	GT:AD:DP:GQ:PL	0/1:62,45:107:99:974,0,1623	9	0	1	0
chr3	9706053	9706053	C	T	exonic	CPNE9	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020442573	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000057	0.53742	D	0.068440	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.334	0.37820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489422	0.93981	D	0.465245	0.93904	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.320346	0.96393	36	0.92335944669080161	0.21733	0.79742	0.39574	D	AEFDBI	0.271005	0.38695	N	-0.125872344584525	0.36269	2.094117	-0.366136187097601	0.26015	1.434237	0.0783981018663456	0.15787	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.28	1.32	0.20897	1.235000	0.32274	0.190000	0.15733	-0.889000	0.02397	0.992000	0.37556	0.950000	0.28999	0.725000	0.34934	0.5712:0.4288:0.0:0.0	15.131	0.72200	702	0.57624	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	438.43	34	chr3	9706053	.	C	T	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.777;DP=385;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.96;ReadPosRankSum=2.49;SOR=0.373	GT:AD:DP:GQ:PL	0/1:42,21:63:99:450,0,983	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	0/1:166,62:228:99:.:.:404,0,4229:.	4	0	6	0
chr3	33051775	33051775	T	C	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon6:c.A545G:p.N182S,GLB1:NM_000404:exon9:c.A938G:p.N313S,GLB1:NM_001079811:exon9:c.A848G:p.N283S,GLB1:NM_001317040:exon10:c.A1082G:p.N361S	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1881717	Mucopolysaccharidosis,_MPS-IV-B|GM1_gangliosidosis	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582|MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.837	0.238503213061	.	.	8.317e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs781080459	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.42199	D	0.046	0.53426	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.24	0.98905	D	-4.25	0.79316	D	0.934	0.93959	1.099	0.99607	D	0.960	0.98707	D	10	0.9799812	0.97948	D	0.238503	0.88590	D	0.837	0.94877	0.947	0.99346	0.997450325136	0.99742	0.9297148710068579	0.92949	0.472138376322	0.46452	0.577498972416	0.49734	T	0.709504	0.91702	D	0.161464	0.70337	D	-0.00584422	0.69957	D	0.956986546516418	0.64895	D	0.952005	0.94289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.27732	B	.;.;.;.	.;.;.;.	4.197151	0.63305	24.6	0.9986227672858532	0.94093	0.99190	0.92559	D	AEFBI	0.955592	0.97354	D	0.755680592968838	0.83276	7.974788	0.752951828765005	0.86377	8.869797	0.999999999996419	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	7.629000	0.82391	7.918000	0.74374	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.650	0.76836	762	0.50290	.;.;Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1364.43	41	chr3	33051775	.	T	C	1364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.442;DP=445;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.298;SOR=0.822	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1376,0,1391	9	0	1	0
chr3	38274346	38274349	CACC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_456del:p.T152Sfs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	350.39	37	chr3	38274345	.	GCACC	G	350.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.38;DP=541;ExcessHet=0;FS=142.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=2.15;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,33:212:99:0|1:38274345_GCACC_G:362,0,6953:38274345	9	0	1	0
chr3	38274348	38274348	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	34.58	37	chr3	38274348	.	C	*	34.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.114;DP=891;ExcessHet=0.2348;FS=142.249;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.07;ReadPosRankSum=1.96;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,33:212:99:0|1:38274345_GCACC_G:362,0,6953:38274345	9	0	1	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	360.13	37	chr3	38274349	.	C	CTGGG	360.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.839;DP=761;ExcessHet=0.2348;FS=142.933;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=2.74;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,32:211:99:0|1:38274345_GCACC_G:337,0,6956:38274345	9	0	1	0
chr3	42397291	42397291	G	A	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon5:c.C415T:p.R139W,LYZL4:NM_144634:exon5:c.C415T:p.R139W	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0002	0.00159744	0.0031	0.0006	0.0016	0	0	0.0003	0	0.0102	0.0009056	140	154602	rs138004276	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	9.279e-05	0.0001	0	8.123e-05	0	0.0028	5.415e-05	0.0005	0.0095	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0045	0.0002	0	6.538e-05	0	0	9.429e-05	0	8.82e-05	0.0005	0.0071	0.01	0.56456	D	0.027	0.55341	D	1.0	0.90584	D	0.973	0.72923	D	0.389053	0.13282	N	0.592403	0.77996	0.29344	N	2.87	0.83286	M	0.86	0.46777	T	-2.68	0.57275	D	0.715	0.71765	-0.6997	0.60453	T	0.256	0.62597	T	10	0.013158828	0.00280	T	.	.	.	0.179	0.44899	.	.	0.634904748024	0.63190	0.7144575453191662	0.71388	0.847429405182	0.68384	0.530724227428	0.43136	T	0.092617	0.39041	T	-0.393943	0.02536	T	-0.331684	0.41283	T	0.110055275520833	0.13429	T	0.724828	0.33863	T	0.07667175	0.17355	0.08060356	0.18247	0.07667175	0.17355	0.08060356	0.18247	-5.462	0.41511	T	.	.	0.289	0.52119	B	.;.	.;.	3.219503	0.43859	21.8	0.99827369673458943	0.90939	0.24294	0.22348	N	AEFDBI	0.194999	0.32205	N	0.17852302297527	0.50170	3.20952	0.0242087600576607	0.40842	2.443923	0.990863900237671	0.32294	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	2.89	0.32713	0.348000	0.19784	1.736000	0.28364	0.665000	0.62972	0.333000	0.25615	0.505000	0.25225	0.039000	0.14166	0.0:0.0:0.6126:0.3874	9.423	0.37724	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005097	0.005319	0.002732	0.011834	0.000000	0.000000	0.003086	0.007576	0.05	861.43	38	chr3	42397291	.	G	A	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.344;SOR=0.705	GT:AD:DP:GQ:PL	0/1:45,35:80:99:873,0,1030	9	0	1	0
chr3	42637080	42637080	T	C	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.T1376C:p.I459T,NKTR:NM_005385:exon13:c.T1376C:p.I459T,NKTR:NM_001349125:exon15:c.T617C:p.I206T,NKTR:NM_001349126:exon15:c.T272C:p.I91T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00289098595567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.578	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.797903	0.06751	N	1.091020	1	0.08975	N	1.04	0.26193	L	2.82	0.10871	T	0.32	0.03955	N	0.026	0.02088	-0.9533	0.40398	T	0.016	0.06616	T	10	0.051080167	0.04936	T	0.002891	0.06104	T	0.044	0.11924	0.318	0.29581	0.043077524339	0.03247	0.044061209714319066	0.04350	0.182636527527	0.20529	0.440671503544	0.30668	T	0.018833	0.15112	T	-0.349114	0.04783	T	-0.739254	0.03922	T	0.0993457169052594	0.12285	T	0.60154	0.22486	T	0.048046563	0.08311	0.053824186	0.09140	0.048046563	0.08310	0.053824186	0.09139	-2.846	0.08615	T	.	.	0.110	0.21353	B	.;.	.;.	0.768406	0.11385	7.997	0.58603708594918114	0.06031	0.07460	0.13477	N	AEFBI	0.063228	0.12207	N	-1.06058826062295	0.07381	0.3427204	-1.01715573256436	0.09408	0.4679015	0.99988424441403	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	2.02	0.25641	1.865000	0.39117	0.525000	0.19198	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.227000	0.22653	0.0:0.2847:0.1586:0.5567	4.631	0.11886	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	59.43	82	chr3	42637080	.	T	C	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.608;DP=515;ExcessHet=0;FS=143.279;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.957;SOR=7.476	GT:AD:DP:GQ:PL	0/1:50,18:68:71:71,0,902	9	0	1	0
chr3	43081193	43081193	C	T	exonic	POMGNT2	.	nonsynonymous SNV	POMGNT2:NM_032806:exon2:c.G239A:p.R80H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	428186	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8|not_specified|not_provided	MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.523	0.0683729784988	7.7e-05	0.00219649	0.0016	0	0.0010	0	0	0.0003	0.0011	0.0095	0.0013971	216	154602	rs146511234	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0009	0.0096	0.0094	8.961e-05	0.0004	0.0009	0	0	0.0017	0.0004	0.0010	0.0102	0.0007	0.0007	0.0006	0.0008	0.0097	0.0006	0.0005	0.0075	0.0067	9.62e-05	0	0.0008	0.0012	0	0	0.0068	0.0005	0.0005	0.0097	0.245	0.17410	T	0.096	0.39340	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	-1.13	0.77719	T	-0.83	0.22727	N	0.294	0.33250	-0.0975	0.80155	T	0.543	0.83199	D	10	0.013193697	0.00281	T	0.068373	0.70432	D	0.523	0.79765	.	.	0.810970745285	0.80919	0.6337372634800732	0.63307	0.324009235068	0.34560	0.549831688404	0.45834	T	0.022684	0.17449	T	-0.0681046	0.41629	T	0.137215	0.79364	D	0.0292454005402922	0.01874	T	0.908709	0.67605	D	0.17236485	0.37923	0.13219658	0.31728	0.17561443	0.38429	0.14412016	0.34226	-4.199	0.26737	T	0.08799753225949004	0.05229	0.091	0.13550	B	.;.	.;.	3.263657	0.44646	22.0	0.99584584847473789	0.73218	0.96685	0.70394	D	AEFDBI	0.723811	0.67331	D	0.615708035024157	0.74167	6.086976	0.640756827587087	0.77925	6.773946	0.999999999981156	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	4.149000	0.57864	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.930	0.92535	688	0.59122	.;.	.	.	.	.	.	Likely benign	0	0	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	0.015152	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1573.43	33	chr3	43081193	.	C	T	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=494;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.571;SOR=0.601	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1585,0,1709	9	0	1	0
chr3	47867325	47867325	G	A	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon11:c.C1403T:p.S468F,MAP4:NM_001384680:exon12:c.C2681T:p.S894F,MAP4:NM_001384802:exon12:c.C1517T:p.S506F,MAP4:NM_001384808:exon12:c.C1517T:p.S506F,MAP4:NM_001384826:exon12:c.C2534T:p.S845F,MAP4:NM_001384842:exon12:c.C2534T:p.S845F,MAP4:NM_001385676:exon12:c.C2579T:p.S860F,MAP4:NM_001384746:exon13:c.C2750T:p.S917F,MAP4:NM_001384753:exon13:c.C2675T:p.S892F,MAP4:NM_001384780:exon13:c.C2702T:p.S901F,MAP4:NM_001384786:exon13:c.C2804T:p.S935F,MAP4:NM_001384806:exon13:c.C2750T:p.S917F,MAP4:NM_001384828:exon13:c.C2804T:p.S935F,MAP4:NM_001384840:exon13:c.C2657T:p.S886F,MAP4:NM_001384843:exon13:c.C2750T:p.S917F,MAP4:NM_001384851:exon13:c.C2657T:p.S886F,MAP4:NM_001384853:exon13:c.C2705T:p.S902F,MAP4:NM_001384864:exon13:c.C2795T:p.S932F,MAP4:NM_001384866:exon13:c.C2648T:p.S883F,MAP4:NM_001384870:exon13:c.C2657T:p.S886F,MAP4:NM_001384877:exon13:c.C1640T:p.S547F,MAP4:NM_001384681:exon14:c.C2864T:p.S955F,MAP4:NM_001384707:exon14:c.C2789T:p.S930F,MAP4:NM_001384730:exon14:c.C2918T:p.S973F,MAP4:NM_001384734:exon14:c.C2873T:p.S958F,MAP4:NM_001384776:exon14:c.C2816T:p.S939F,MAP4:NM_001384779:exon14:c.C2771T:p.S924F,MAP4:NM_001384782:exon14:c.C2873T:p.S958F,MAP4:NM_001384794:exon14:c.C2708T:p.S903F,MAP4:NM_001384804:exon14:c.C2747T:p.S916F,MAP4:NM_001384813:exon14:c.C1685T:p.S562F,MAP4:NM_001384814:exon14:c.C2873T:p.S958F,MAP4:NM_001384816:exon14:c.C2918T:p.S973F,MAP4:NM_001384824:exon14:c.C2798T:p.S933F,MAP4:NM_001384831:exon14:c.C2726T:p.S909F,MAP4:NM_001384832:exon14:c.C2873T:p.S958F,MAP4:NM_001384836:exon14:c.C2864T:p.S955F,MAP4:NM_001384837:exon14:c.C2819T:p.S940F,MAP4:NM_001384839:exon14:c.C2666T:p.S889F,MAP4:NM_001384845:exon14:c.C2621T:p.S874F,MAP4:NM_001384846:exon14:c.C2828T:p.S943F,MAP4:NM_001384847:exon14:c.C2771T:p.S924F,MAP4:NM_001384850:exon14:c.C2789T:p.S930F,MAP4:NM_001384867:exon14:c.C2666T:p.S889F,MAP4:NM_001384868:exon14:c.C2864T:p.S955F,MAP4:NM_001384874:exon14:c.C2783T:p.S928F,MAP4:NM_001384876:exon14:c.C2873T:p.S958F,MAP4:NM_001385664:exon14:c.C6188T:p.S2063F,MAP4:NM_001385677:exon14:c.C2873T:p.S958F,MAP4:NM_001385684:exon14:c.C2828T:p.S943F,MAP4:NM_001385685:exon14:c.C2771T:p.S924F,MAP4:NM_001134364:exon15:c.C2987T:p.S996F,MAP4:NM_001384676:exon15:c.C2942T:p.S981F,MAP4:NM_001384737:exon15:c.C2912T:p.S971F,MAP4:NM_001384744:exon15:c.C2915T:p.S972F,MAP4:NM_001384756:exon15:c.C2942T:p.S981F,MAP4:NM_001384774:exon15:c.C2942T:p.S981F,MAP4:NM_001384778:exon15:c.C2354T:p.S785F,MAP4:NM_001384791:exon15:c.C2915T:p.S972F,MAP4:NM_001384796:exon15:c.C2924T:p.S975F,MAP4:NM_001384797:exon15:c.C2870T:p.S957F,MAP4:NM_001384798:exon15:c.C2987T:p.S996F,MAP4:NM_001384820:exon15:c.C2912T:p.S971F,MAP4:NM_001384834:exon15:c.C2897T:p.S966F,MAP4:NM_001384838:exon15:c.C2960T:p.S987F,MAP4:NM_001384849:exon15:c.C2948T:p.S983F,MAP4:NM_001384871:exon15:c.C2915T:p.S972F,MAP4:NM_001384873:exon15:c.C2909T:p.S970F,MAP4:NM_001384879:exon15:c.C2987T:p.S996F,MAP4:NM_001384892:exon15:c.C2897T:p.S966F,MAP4:NM_001385665:exon15:c.C2987T:p.S996F,MAP4:NM_001385675:exon15:c.C2909T:p.S970F,MAP4:NM_001385681:exon15:c.C2924T:p.S975F,MAP4:NM_002375:exon15:c.C2987T:p.S996F,MAP4:NM_001384679:exon16:c.C2993T:p.S998F,MAP4:NM_001384731:exon16:c.C2993T:p.S998F,MAP4:NM_001384736:exon16:c.C3038T:p.S1013F,MAP4:NM_001384738:exon16:c.C3023T:p.S1008F,MAP4:NM_001384748:exon16:c.C3023T:p.S1008F,MAP4:NM_001384788:exon16:c.C3038T:p.S1013F,MAP4:NM_001384875:exon16:c.C2978T:p.S993F,MAP4:NM_001385686:exon16:c.C3038T:p.S1013F,MAP4:NM_001385688:exon16:c.C6191T:p.S2064F,MAP4:NM_001385689:exon16:c.C6308T:p.S2103F,MAP4:NM_001384729:exon17:c.C2987T:p.S996F,MAP4:NM_001384745:exon17:c.C3074T:p.S1025F,MAP4:NM_001384795:exon17:c.C3074T:p.S1025F,MAP4:NM_001385682:exon17:c.C6422T:p.S2141F,MAP4:NM_001385687:exon17:c.C6422T:p.S2141F	.	428	1074	17	3	0	23	0.0105942	.	.	.	3210110	not_provided|MAP4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.672	0.295561311245	0.0032	0.00179712	0.0031	0.0009	0.0029	0	0.0006	0.0045	0.0033	0.0019	0.0032276	499	154602	rs150907099	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0052	0.0006	0.0031	0.0007	2.519e-05	0.0004	0.0031	0.0053	0.0045	0.0016	0.0034	0.0034	0.0033	0.0035	0.0054	0.0032	0.0031	0.0048	0.0046	0.0010	0.0143	0.0054	0.0006	0.0002	0.0004	0	0.0052	0.0052	0.0019	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.665	0.42610	L	-3.48	0.94584	D	-4.37	0.79482	D	0.484	0.69825	0.339	0.88170	D	0.820	0.93952	D	9	0.011303484	0.00248	T	0.295561	0.90710	D	0.672	0.87868	.	.	0.616639467345	0.61354	0.6311990139498651	0.63053	0.517218207095	0.49593	0.640708565712	0.58665	T	0.739265	0.93866	D	-0.126497	0.32064	T	0.052058	0.73719	D	0.0389167667814701	0.03495	T	0.972478	0.90093	D	0.48620215	0.66275	0.563218	0.74723	0.48620215	0.66276	0.563218	0.74724	-14.682	0.96504	D	.	.	0.796	0.80786	P	.;.;.;.;.	.;.;.;.;.	5.382233	0.90195	31	0.99838993567598544	0.91972	0.95999	0.67077	D	AEFBI	0.497048	0.53173	N	0.622024777006955	0.74568	6.155068	0.603569509033206	0.75198	6.268456	0.999941365784735	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.29	0.50359	4.186000	0.58135	9.893000	0.82289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0817:0.0:0.9183:0.0	12.216	0.53716	9	0.99126	.;.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	602.43	33	chr3	47867325	.	G	A	602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=387;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=-0.403;SOR=1.123	GT:AD:DP:GQ:PL	0/1:52,26:78:99:614,0,1302	9	0	1	0
chr3	48460226	48460226	G	A	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_001271023:exon8:c.G893A:p.R298Q,ATRIP:NM_032166:exon8:c.G1172A:p.R391Q,ATRIP:NM_130384:exon8:c.G1172A:p.R391Q,ATRIP:NM_001271022:exon9:c.G791A:p.R264Q	.	431	1086	5	0	0	5	0.00229674	.	.	.	734117	not_specified|not_provided|ATRIP-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.133	0.0316245628926	0.0005	0.000599042	0.0008	0	0.0003	0	0.0003	0.0003	0	0.0039	0.000705	109	154602	rs142899473	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0039	0.0038	8.961e-05	0.0002	0	0	0.0001	0.0016	0.0003	0.0007	0.0043	0.0004	0.0004	0.0003	0.0006	0.0046	0.0003	0.0003	0.0031	0.0026	7.215e-05	0	6.539e-05	0	0	0.0002	0	0.0005	0.0005	0.0046	0.393	0.37750	T	0.039	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000070	0.52346	D	0.195617	0.778644	0.29357	N	2.77	0.80896	M	0.97	0.42502	T	-0.81	0.24026	N	0.327	0.41360	-0.8530	0.51760	T	0.186	0.53556	T	9	0.009278595	0.00210	T	0.031625	0.53663	D	0.133	0.36157	.	.	0.423360453849	0.41956	0.2351661102112964	0.23431	0.928783125732	0.71741	0.290582060814	0.09006	T	0.078342	0.35868	T	-0.31884	0.06992	T	-0.230912	0.51684	T	0.118749482938802	0.14308	T	0.914708	0.70532	D	0.067357965	0.14579	0.076467335	0.16938	0.067357965	0.14578	0.076467335	0.16938	-2.923	0.09600	T	.	.	0.113	0.22245	B	.;.;.;.	.;.;.;.	5.019412	0.83409	28.0	0.999461364681548	0.99901	0.93534	0.58479	D	AEFBI	0.625718	0.60881	D	0.589722624014539	0.72534	5.820651	0.581147360748954	0.73589	5.995233	0.999885969783384	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.92	0.64147	4.847000	0.62565	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:0.0:0.7111:0.2889	11.297	0.48518	13	0.98894	.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1679.43	35	chr3	48460226	.	G	A	1679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.534;DP=479;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.741;SOR=0.624	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1691,0,1970	9	0	1	0
chr3	48662268	48662268	G	C	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon1:c.C367G:p.R123G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0516227902453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.55	0.71068	T	-0.9	0.24244	N	0.108	0.09349	-0.9598	0.39218	T	0.146	0.47056	T	9	0.066880584	0.09238	T	0.051623	0.64738	D	0.183	0.45592	0.168	0.07302	0.421714571039	0.41790	0.1670929949419266	0.16629	0.985944068956	0.73906	0.25840601325	0.04703	T	0.199837	0.55723	T	-0.176212	0.24302	T	-0.490893	0.23298	T	0.0539714429026635	0.06184	T	0.770923	0.40135	T	0.11712007	0.27615	0.19552003	0.43233	0.11712007	0.27615	0.19552003	0.43232	-3.27	0.13353	T	.	.	0.060	0.00979	B	.	.	1.653640	0.21093	15.05	0.95445407176075014	0.26957	0.02760	0.07451	N	AEFDGBHCI	0.119171	0.23271	N	-1.03029946650001	0.07980	0.3725731	-1.04934925088641	0.08720	0.4301531	0.999999749920934	0.74766	0.766844	0.99359	0	0.606814	0.50340	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	4.68	-1.19	0.09091	0.259000	0.18174	1.286000	0.25382	0.672000	0.70159	0.001000	0.13787	0.001000	0.17328	0.323000	0.25040	0.0:0.2372:0.2791:0.4837	9.003	0.35254	3	0.99430	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2477.43	35	chr3	48662268	.	G	C	2477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=511;ExcessHet=0;FS=4.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.338;SOR=0.844	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2489,0,2078	9	0	1	0
chr3	48694930	48694930	T	C	exonic	IP6K2	.	nonsynonymous SNV	IP6K2:NM_001190316:exon3:c.A527G:p.H176R,IP6K2:NM_001190317:exon3:c.A536G:p.H179R	.	390	1126	6	0	0	6	0.00265722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0126109212999	.	0.000199681	0.0016	0	0	0	0	0.0002	0	0.0038	0.0002652	41	154602	rs200668427	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0012	4.888e-05	0.0003	0.0032	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	9.625e-05	0	6.534e-05	0	0	0	0	8.822e-05	0	0.0035	0.0	0.91255	D	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.66	0.52416	T	-0.26	0.11185	N	0.131	0.29197	-1.0820	0.06965	T	0.063	0.26244	T	9	0.0056069493	0.00124	T	0.012611	0.31334	T	0.057	0.16321	0.088	0.00943	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.479594	0.00743	T	-0.465044	0.26053	T	0.104573277152844	0.12852	T	0.378962	0.09121	T	.	.	.	.	.	.	.	.	-2.934	0.09967	T	.	.	0.157	0.40213	B	.;.;.;.;.;.	.;.;.;.;.;.	2.112772	0.26887	17.27	0.98038988957422435	0.37774	0.76133	0.37317	D	ALL	0.273553	0.38893	N	-0.545773530887192	0.20616	1.08812	-0.40201580517333	0.24937	1.368489	0.999999999952624	0.74766	0.730579	0.87903	0	0.577304	0.33150	0	0.749866	0.98131	0	0.654926	0.60358	0	.	.	4.46	3.3	0.36912	0.975000	0.29046	3.552000	0.39052	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.1054:0.0:0.8946	6.622	0.22004	2	0.99499	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001569	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.011538	0.05	1603.43	34	chr3	48694930	.	T	C	1603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=416;ExcessHet=0;FS=2.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.974;SOR=0.484	GT:AD:DP:GQ:PL	0/1:41,62:103:99:1615,0,1006	9	0	1	0
chr3	49115902	49115902	G	A	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon10:c.C1166T:p.T389I,USP19:NM_001351103:exon10:c.C1211T:p.T404I,USP19:NM_001351104:exon10:c.C1217T:p.T406I,USP19:NM_001351106:exon10:c.C1211T:p.T404I,USP19:NM_001351108:exon10:c.C1172T:p.T391I,USP19:NM_006677:exon10:c.C1205T:p.T402I,USP19:NM_001199160:exon11:c.C1508T:p.T503I,USP19:NM_001199161:exon11:c.C1514T:p.T505I,USP19:NM_001199162:exon11:c.C1478T:p.T493I,USP19:NM_001351098:exon11:c.C1475T:p.T492I,USP19:NM_001351099:exon11:c.C1505T:p.T502I,USP19:NM_001351100:exon11:c.C1511T:p.T504I,USP19:NM_001351101:exon11:c.C1514T:p.T505I,USP19:NM_001351105:exon11:c.C1358T:p.T453I,USP19:NM_001351107:exon11:c.C1469T:p.T490I	.	422	1094	6	0	0	6	0.00273473	.	.	.	4083758	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.168	0.00880763665752	0.0002	0.000199681	0.0003	0	0	0	0	1.546e-05	0	0.0027	0.0002458	38	154602	rs199766552	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0011	4.115e-05	0.0002	0.0025	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	9.24e-05	0.0016	0.0013	9.63e-05	0	6.539e-05	0	0	0	0	8.825e-05	0	0.0027	0.002	0.72154	D	0.01	0.69154	D	0.971	0.57185	D	0.724	0.55036	P	0.000292	0.46274	D	0.253749	0.999971	0.58761	D	0.695	0.17993	N	2.04	0.38073	T	-1.88	0.49846	N	0.53	0.58117	-0.9830	0.34305	T	0.157	0.48993	T	10	0.023425221	0.00612	T	0.008808	0.23245	T	0.168	0.42943	.	.	0.143184338766	0.13958	0.25448269893987546	0.25362	0.509059477772	0.49044	0.639447689056	0.58486	T	0.030859	0.22997	T	-0.358208	0.04232	T	-0.293794	0.45376	T	0.18055938799829	0.19270	T	0.941106	0.78031	D	0.13090499	0.30530	0.29620686	0.55652	0.13090499	0.30530	0.29620686	0.55651	-4.558	0.32347	T	.	.	0.161	0.51068	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.341309	0.66608	25.0	0.99881598818765638	0.95733	0.99571	0.97563	D	AEFDBI	0.884881	0.81493	D	0.74976070804033	0.82890	7.875722	0.82153586737776	0.91250	10.79215	0.99999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.446000	0.96756	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.474	0.99171	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2700.43	34	chr3	49115902	.	G	A	2700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.45;DP=518;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.7;SOR=0.77	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2712,0,2334	9	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	674.14	34	chr3	49685734	.	T	G	674.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.942;DP=1000;ExcessHet=0.2348;FS=15.949;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.2;MQRankSum=-16.25;QD=1.13;ReadPosRankSum=-3.62;SOR=2.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,22:288:83:0|1:49685734_T_G:83,0,10867:49685734	8	0	2	0
chr3	49903228	49903228	C	T	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon1:c.G382A:p.A128T,MST1R:NM_001318913:exon1:c.G382A:p.A128T,MST1R:NM_002447:exon1:c.G382A:p.A128T	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00981177451762	.	.	8.465e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs769845082	3.436e-06	4.104e-06	4.104e-06	2.762e-06	1.159e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.314e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.39	0.32355	T	0.917	0.50750	P	0.18	0.35854	B	0.823413	0.09161	N	0.926907	1	0.08975	N	1.54	0.38927	L	2.86	0.10482	T	-0.91	0.27669	N	0.134	0.19325	-1.0561	0.12750	T	0.031	0.13242	T	10	0.0857507	0.14508	T	0.009812	0.25586	T	0.111	0.31313	0.318	0.29581	0.270889551736	0.26708	0.3988196515856671	0.39796	0.312029139703	0.33506	0.320726573467	0.13531	T	0.050043	0.28480	T	-0.342505	0.05217	T	-0.629131	0.10480	T	0.228234186768532	0.21867	T	0.877212	0.60027	D	0.15953326	0.35832	0.19206059	0.42700	0.15953326	0.35831	0.19206059	0.42699	-4.58	0.32372	T	.	.	0.085	0.17402	B	.;.;.;.	.;.;.;.	1.978371	0.25134	16.65	0.95796381212897763	0.27844	0.17317	0.19784	N	AEFDGBHCI	0.188299	0.31557	N	-0.292953244059772	0.29419	1.631291	-0.388290375777704	0.25345	1.39325	0.999999951714329	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	4.96	4.02	0.45968	0.535000	0.22822	3.208000	0.36786	0.599000	0.40250	0.000000	0.06391	0.149000	0.23162	0.972000	0.54974	0.2335:0.6435:0.123:0.0	10.363	0.43191	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;Sema domain|Sema 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	2110.43	36	chr3	49903228	.	C	T	2110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.788;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.467;SOR=0.721	GT:AD:DP:GQ:PL	0/1:65,74:139:99:2122,0,1682	9	0	1	0
chr3	50289579	50289579	T	C	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon7:c.A647G:p.Y216C	.	429	1072	20	1	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0049	0.00239617	0.0071	0.0013	0.0050	0.0004	0.0014	0.0105	0.0078	0.0045	0.0036998	572	154602	rs34364099	0.0058	0.0058	0.0058	0.0059	0.0065	0.0057	0.0057	0.0064	0.0064	0.0008	0.0023	0.0098	7.847e-05	0.0007	0.0064	0.0065	0.0060	0.0045	0.0043	0.0043	0.0045	0.0042	0.0062	0.0041	0.0040	0.0057	0.0055	0.0011	0.0768	0.0029	0.0104	0.0002	0.0007	0.0034	0.0062	0.0047	0.0044	0.183	0.21718	T	0.095	0.39492	T	0.008	0.14655	B	0.009	0.14300	B	0.000747	0.42006	N	0.283664	0.998617	0.45166	D	0.335	0.10427	N	-0.12	0.64630	T	-4.4	0.77308	D	0.11	0.09772	-0.9694	0.37324	T	0.116	0.40942	T	10	0.0038838685	0.00074	T	.	.	.	0.138	0.37187	.	.	0.695661859615	0.69303	0.12998815443157535	0.12923	.	.	0.331011980772	0.15088	T	0.197609	0.55434	T	-0.46194	0.00956	T	-0.432176	0.29688	T	0.0182960750494103	0.00548	T	0.715628	0.32820	T	0.20409873	0.42509	0.18446688	0.41501	0.20409873	0.42509	0.18446688	0.41500	-6.108	0.47174	T	.	.	0.047	0.00109	B	.;.	.;.	1.218396	0.16123	12.33	0.57756060330256087	0.05840	0.36228	0.25485	N	AEFBCI	0.083179	0.16849	N	-0.708489046188582	0.15783	0.7984209	-0.660277316162749	0.17958	0.957195	0.999834550519059	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	2.51	0.29435	2.062000	0.41039	0.720000	0.21004	-0.218000	0.08083	0.953000	0.33222	0.168000	0.23319	0.198000	0.21837	0.0:0.7363:0.0:0.2637	8.777	0.33924	3	0.99430	Interferon-related developmental regulator, N-terminal;Interferon-related developmental regulator, N-terminal	.	.	.	.	rs34364099	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05	1698.43	33	chr3	50289579	.	T	C	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.484;DP=477;ExcessHet=0;FS=1.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.216;SOR=0.79	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1710,0,2094	9	0	1	0
chr3	58163173	58163173	C	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon42:c.C6969A:p.F2323L,FLNB:NM_001164318:exon43:c.C7008A:p.F2336L,FLNB:NM_001457:exon43:c.C7041A:p.F2347L,FLNB:NM_001164317:exon44:c.C7134A:p.F2378L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	291363	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.819	0.619735841105	0.0004	0.000399361	0.0006	0	0.0005	0.0001	0.0002	0.0008	0	0.0007	0.0005563	86	154602	rs139325959	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	2.987e-05	0.0005	0	0	0.0002	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0005	4.81e-05	0	0.0003	0	0	0	0	0.0007	0.0009	0.0008	0.009	0.72154	D	0.002	0.79402	D	0.343	0.35524	B	0.457	0.46994	P	0.000000	0.84330	D	0.085942	0.999964	0.81001	D	4	0.96753	H	-2.92	0.91748	D	-5.23	0.83899	D	0.795	0.86191	0.836	0.94850	D	0.867	0.95570	D	10	0.544053	0.63882	D	0.619736	0.96704	D	0.819	0.94200	0.878	0.96734	0.907146702657	0.90621	0.7181845656283848	0.71761	0.664439988566	0.59081	0.812714219093	0.83908	D	0.91636	0.98466	D	0.149337	0.69205	D	0.345485	0.90137	D	0.312008829859245	0.25497	T	0.995	0.98241	D	0.6150099	0.73497	0.505847	0.71439	0.6150099	0.73498	0.505847	0.71439	-13.405	0.90962	D	.	.	0.996	0.96223	P	.;.;.;.;.	.;.;.;.;.	3.947488	0.57808	23.9	0.99032708541698877	0.50830	0.93401	0.58119	D	AEFGBHCIJ	0.726830	0.67537	D	-0.0160203433218901	0.41130	2.454767	-0.0619533859048216	0.36978	2.158986	0.999965420133808	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.39	2.62	0.30337	2.229000	0.42634	2.215000	0.31401	-0.773000	0.03420	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.6498:0.0:0.3502	9.118	0.35930	617	0.66297	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1693.43	33	chr3	58163173	.	C	A	1693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.822;DP=444;ExcessHet=0;FS=7.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.717;SOR=1.326	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1705,0,1575	9	0	1	0
chr3	64658741	64658741	A	G	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon4:c.T730C:p.W244R,ADAMTS9:NM_182920:exon4:c.T730C:p.W244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0148853496304	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423412179	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.18956	T	0.348	0.17696	T	0.0	0.02946	B	0.0	0.01387	B	0.168753	0.17438	N	0.596536	0.943989	0.28595	N	-0.175	0.04276	N	0.3	0.61089	T	-1.33	0.33197	N	0.283	0.32037	-1.0355	0.18700	T	0.082	0.32237	T	10	0.06912777	0.09874	T	0.014885	0.35296	T	0.055	0.15663	0.403	0.43408	0.331619326243	0.32766	0.2480851996275321	0.24722	0.338253355066	0.35799	0.286027848721	0.08346	T	0.044253	0.26758	T	-0.256815	0.13276	T	-0.506044	0.21723	T	0.0304810968003591	0.02064	T	0.341266	0.07400	T	0.06304186	0.13231	0.061800756	0.11993	0.06304186	0.13230	0.061800756	0.11992	-0.323	0.00486	T	.	.	0.147	0.44293	B	.;.;.	.;.;.	0.159286	0.05500	1.965	0.49196751643335379	0.04169	0.25154	0.22613	N	AEFDBI	0.112355	0.22211	N	-1.14790889582476	0.05813	0.2660434	-1.08063686844056	0.08081	0.3958353	0.00267297194446538	0.09624	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	6.01	-0.391	0.11826	0.243000	0.17880	0.310000	0.17073	-0.534000	0.04951	0.016000	0.19238	0.000000	0.08366	0.025000	0.12405	0.6527:0.0:0.3473:0.0	9.444	0.37852	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1529.43	34	chr3	64658741	.	A	G	1529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.219;DP=472;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.435;SOR=0.559	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1541,0,1868	9	0	1	0
chr3	69109111	69109111	G	T	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon3:c.C1667A:p.P556Q,LMOD3:NM_001304418:exon4:c.C1667A:p.P556Q	Nemaline myopathy 10, Autosomal recessive	435	1071	16	0	0	16	0.00741427	.	.	.	215293	not_specified|Nemaline_myopathy_10|not_provided	MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.234	.	0.0003	0.00299521	0.0020	0.0002	0.0003	0	0	0.0007	0	0.0089	0.0010349	160	154602	rs201205115	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0002	0	0	1.904e-05	0.0038	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0071	0.0004	0.0004	0.0052	0.0045	4.821e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0071	0.001	0.78490	D	0.045	0.49390	D	0.622	0.39964	P	0.11	0.31460	B	.	.	.	.	0.999999	0.58761	D	1.7	0.43825	L	2.6	0.13204	T	-5.59	0.86527	D	0.753	0.76203	-1.1277	0.01896	T	0.039	0.16849	T	9	0.009101003	0.00206	T	.	.	.	0.234	0.53644	.	.	0.441221003447	0.43743	0.4030161126887055	0.40217	0.0810768927185	0.09121	0.657460093498	0.61046	T	0.054363	0.29704	T	-0.241252	0.15189	T	-0.115872	0.62140	T	0.115575303002286	0.13992	T	0.625137	0.24143	T	0.59228265	0.72275	0.81371063	0.89136	0.59228265	0.72276	0.81371063	0.89137	-9.812	0.72778	D	.	.	0.657	0.71193	P	.;.;.	.;.;.	3.986647	0.58650	24.0	0.96878609923570203	0.31450	0.95287	0.64137	D	AEFDBHCI	0.801815	0.72742	D	0.30940619591794	0.56629	3.828033	0.390226168124508	0.60962	4.289849	0.99999999999988	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.53	5.53	0.82530	6.791000	0.74907	11.825000	0.97352	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.2	0.81882	349	0.85513	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004145	0.000000	0.004076	0.003497	0.000000	0.000000	0.003049	0.007576	0.05	605.43	36	chr3	69109111	.	G	T	605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.837;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.751;SOR=0.747	GT:AD:DP:GQ:PL	0/1:35,26:61:99:617,0,848	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|1:48,27:75:99:0|1:75730450_C_T:989,0,1898:75730450	0	0	10	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	0/1:110,21:131:99:.:.:210,0,4332:.	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|1:96,36:132:99:0|1:75736891_G_A:1223,0,3882:75736891	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|1:106,36:142:99:0|1:75736891_G_A:1193,0,4343:75736891	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|1:103,33:136:99:0|1:75736891_G_A:1076,0,4226:75736891	1	0	9	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	0/1:87,17:104:99:125,0,3080	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|1:96,18:114:99:0|1:75737092_C_T:467,0,3971:75737092	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|1:97,18:115:99:0|1:75737092_C_T:464,0,4019:75737092	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|1:100,18:118:99:0|1:75737092_C_T:455,0,4145:75737092	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|1:96,18:114:99:0|1:75737092_C_T:467,0,3977:75737092	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|1:85,10:95:99:0|1:75737092_C_T:164,0,3501:75737092	1	0	9	0
chr3	75737503	75737503	T	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2120C:p.N707T,ZNF717:NM_001290208:exon5:c.A2120C:p.N707T,ZNF717:NM_001290209:exon5:c.A1970C:p.N657T,ZNF717:NM_001324027:exon5:c.A2120C:p.N707T	.	329	1190	3	0	0	3	0.00125892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.000625535279908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	0.895327	0.36045	D	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.117	0.10626	-0.9611	0.38974	T	0.018	0.07612	T	9	0.05207154	0.05184	T	6.26E-4	0.00303	T	0.091	0.26358	.	.	0.0138822411134	0.00435	0.007749801125605798	0.00739	.	.	0.288034617901	0.08636	T	.	.	.	-0.226952	0.17053	T	-0.563777	0.16024	T	0.0743140232152075	0.09244	T	0.0631937	0.00460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.722317	0.10914	7.584	0.62505135950074286	0.06980	0.00330	0.01723	N	AEFDBHCI	0.050091	0.08720	N	-1.39371744401217	0.02696	0.1194333	-1.5759170739318	0.01803	0.08210552	0.999999003011436	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.57	-3.14	0.04928	-2.740000	0.00869	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.175:0.279:0.1766:0.3694	0.575	0.00656	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	.	.	.	.	.	.	.	.	0.05	265.43	221	chr3	75737503	.	T	G	265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.12;DP=1603;ExcessHet=0;FS=10.032;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-3.796;QD=1.69;ReadPosRankSum=0.422;SOR=1.716	GT:AD:DP:GQ:PL	0/1:137,20:157:99:277,0,5072	9	0	1	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	0/1:106,55:161:99:.:.:1883,0,4209:.	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|1:126,58:184:99:0|1:75737590_A_G:1996,0,5071:75737590	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|1:122,63:185:99:0|1:75737590_A_G:2278,0,4933:75737590	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|1:127,60:187:99:0|1:75737590_A_G:2137,0,5152:75737590	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|1:123,56:179:99:0|1:75737590_A_G:1981,0,4996:75737590	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|1:108,51:159:99:0|1:75737590_A_G:1816,0,4381:75737590	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|1:156,33:189:99:0|1:75737814_C_T:904,0,6103:75737814	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|1:163,21:184:99:0|1:75737881_T_C:245,0,6561:75737881	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|1:159,16:175:99:0|1:75737881_T_C:125,0,6604:75737881	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|1:159,14:173:97:0|1:75737881_T_C:97,0,6608:75737881	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|1:190,17:207:99:0|1:75737994_T_C:142,0,7794:75737994	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|1:181,17:198:99:0|1:75737994_T_C:169,0,7549:75737994	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	0/1:96,11:107:29:29,0,2919	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	0/1:64,13:77:99:132,0,1765	1	0	9	0
chr3	98025612	98025612	G	T	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.C193A:p.L65I	.	435	1073	13	1	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4e-05	0.00119808	0.0010	0.0001	0.0002	0	0	3.038e-05	0.0011	0.0071	0.0008279	128	154602	rs373571752	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0005	0.0070	0.0068	0	6.722e-05	0	2.522e-05	0	0.0026	4.409e-05	0.0004	0.0075	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.545e-05	0	0	0	0	4.411e-05	0	0.0083	.	.	.	0.066	0.44501	T	0.994	0.66517	D	0.96	0.70309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.42050	.	.	.	.	.	.	.	0.008395404	0.00190	T	.	.	.	.	.	.	.	0.380564188046	0.37663	0.3712657671114812	0.37040	.	.	.	.	.	0.029975	0.21354	T	-0.436084	0.01364	T	-0.396152	0.33832	T	.	.	.	0.926807	0.73035	D	0.040386066	0.05755	0.10034804	0.23989	0.040386066	0.05754	0.10034804	0.23988	-5.38	0.40726	T	.	.	0.160	0.35352	B	.;.	.;.	3.592328	0.50700	23.0	0.99037997461322957	0.50962	0.90578	0.51870	D	AEFBHCI	0.325211	0.42686	N	.	.	.	.	.	.	0.459144162129251	0.20609	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.04	0.34171	3.155000	0.50398	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.382000	0.26379	0.1782:0.0:0.8218:0.0	9.468	0.37989	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	938.43	41	chr3	98025612	.	G	T	938.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.681;DP=401;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.803;SOR=0.578	GT:AD:DP:GQ:PL	0/1:45,42:87:99:950,0,1154	9	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	146.44	142	chr3	99790960	.	T	C	146.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.024;DP=1076;ExcessHet=0.2348;FS=125.682;InbreedingCoeff=-0.2316;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.85;SOR=7.808	GT:AD:DP:GQ:PL	0/1:98,38:136:99:152,0,1696	4	0	2	4
chr3	100166377	100166377	C	T	exonic	CMSS1	.	nonsynonymous SNV	CMSS1:NM_001167924:exon5:c.C344T:p.S115F,CMSS1:NM_032359:exon5:c.C398T:p.S133F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.0544932559133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.033	0.53072	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.051873	1	0.81001	D	2.265	0.64440	M	1.52	0.30669	T	-4.31	0.76576	D	0.698	0.71942	-0.8406	0.52607	T	0.198	0.55286	T	9	0.80531895	0.79879	D	0.054493	0.65878	D	0.408	0.72022	0.671	0.80903	0.749366424934	0.74710	0.6406780989571664	0.64002	0.196713787658	0.22038	0.661002039909	0.61553	T	0.139928	0.48854	T	0.25078	0.78674	D	0.122452	0.78397	D	0.995071709156036	0.86786	D	0.953605	0.82243	D	0.9362004	0.94861	0.8940613	0.94554	0.9362004	0.94861	0.8940613	0.94555	-11.086	0.80128	D	.	.	0.657	0.71221	P	.;.;.	.;.;.	5.208925	0.87404	29.2	0.99827948561704316	0.91026	0.96812	0.71072	D	AEFDGIJ	0.774341	0.70808	D	0.769268469231454	0.84153	8.209028	0.75987147129781	0.86892	9.037498	0.999999752633225	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.6	5.6	0.84997	6.018000	0.70464	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.174	0.89688	504	0.75712	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	773.43	34	chr3	100166377	.	C	T	773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.594;DP=380;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=2.01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:39,33:72:99:785,0,948	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|1:17,15:32:99:0|1:100775333_T_C:219,0,190:100775333	1	0	9	0
chr3	107378225	107378225	T	C	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.T638C:p.I213T	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0058	0.00559105	0.0074	0.0024	0.0058	0	0.0006	0.0095	0.0044	0.0099	0.0074191	1147	154602	rs34158098	0.0084	0.0084	0.0082	0.0085	0.0196	0.0082	0.0082	0.0167	0.0156	0.0019	0.0085	0.0086	0	0.0011	0.0196	0.0091	0.0083	0.0086	0.0061	0.0061	0.0063	0.0058	0.0093	0.0057	0.0056	0.0087	0.0085	0.0019	0.0022	0.0076	0.0101	0	0.0002	0.0034	0.0093	0.0085	0.0073	0.43	0.09543	T	1.0	0.01155	T	0.037	0.20876	B	0.012	0.16012	B	0.597005	0.05624	N	1.266050	1	0.08975	N	1.245	0.31408	L	0.94	0.43672	T	-2.17	0.49018	N	0.092	0.07125	-1.0270	0.21429	T	0.054	0.22808	T	10	0.005481869	0.00121	T	.	.	.	0.042	0.11227	.	.	0.0297737177859	0.01360	0.03753949567111663	0.03699	0.0705823064649	0.07905	0.360315144062	0.19431	T	0.003405	0.02809	T	-0.648829	0.00074	T	-0.697098	0.05987	T	0.0016111737451026	0.00016	T	0.456654	0.13107	T	0.0464914	0.07790	0.07059691	0.15018	0.0464914	0.07790	0.07059691	0.15018	-2.911	0.09253	T	.	.	0.182	0.39494	B	.	.	0.570465	0.09389	6.170	0.18592314549731387	0.00591	0.03232	0.08247	N	AEFBI	0.056594	0.10474	N	-0.993376873215944	0.08745	0.4111896	-1.00403197990642	0.09696	0.4839018	0.0260931468295475	0.13691	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.57	1.82	0.24209	-0.041000	0.12036	-0.022000	0.12912	0.609000	0.47794	0.001000	0.13787	0.000000	0.08366	0.135000	0.19760	0.0:0.1031:0.177:0.7199	5.281	0.14987	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.025253	0.010870	0.011696	0.000000	0.017241	0.015244	0.007576	0.05	1825.43	36	chr3	107378225	.	T	C	1825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.534;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.02;SOR=0.681	GT:AD:DP:GQ:PL	0/1:63,73:136:99:1837,0,1676	9	0	1	0
chr3	112126994	112126994	T	G	exonic	GCSAM	.	nonsynonymous SNV	GCSAM:NM_001190260:exon3:c.A138C:p.Q46H,GCSAM:NM_001190259:exon4:c.A189C:p.Q63H,GCSAM:NM_152785:exon4:c.A183C:p.Q61H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0002	0.00399361	0.0013	0	0	0.0174	0	4.52e-05	0.0011	0.0003	0.0012354	191	154602	rs74831119	0.0006	0.0006	0.0006	0.0006	0.0195	0.0006	0.0006	0.0183	0.0179	0	0	0	0.0195	3.748e-05	0.0002	3.571e-05	0.0007	0.0003	0.0007	0.0007	0.0005	0.0009	0.0191	0.0006	0.0006	0.0160	0.0149	0	0	0	0	0.0191	0	0	4.41e-05	0.0005	0.0019	0.085	0.33254	T	0.14	0.33666	T	0.103	0.25884	B	0.085	0.29395	B	0.333358	0.04144	N	1.478470	1	0.08975	N	1.445	0.36358	L	.	.	.	-1.75	0.49352	N	0.224	0.32481	-1.0315	0.19970	T	0.028	0.11926	T	9	0.002620846	0.00040	T	.	.	.	0.039	0.10176	0.107	0.01868	0.0551355673512	0.04727	0.05094661677769747	0.05036	0.574526423145	0.53482	0.216872990131	0.01137	T	0.176057	0.52586	T	-0.494201	0.00616	T	-0.469688	0.25551	T	0.0188061930268627	0.00591	T	.	.	.	0.06024162	0.12337	0.06429073	0.12864	0.06024162	0.12337	0.06429073	0.12864	-4.414	0.30692	T	0.22054275236106247	0.29732	0.159	0.36355	B	.;.;.;.;.	.;.;.;.;.	1.076365	0.14590	11.15	0.98531162043900555	0.42595	0.08162	0.14126	N	AEFDBCI	0.070243	0.13937	N	-1.13298851662832	0.06064	0.278175	-1.17056193406193	0.06406	0.308271	0.999999492952914	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.79	-0.414	0.11743	0.017000	0.13294	-0.527000	0.08657	-0.123000	0.13640	0.001000	0.13787	0.000000	0.08366	0.156000	0.20513	0.1587:0.1767:0.1651:0.4994	0.853	0.01102	830	0.39242	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1020.43	33	chr3	112126994	.	T	G	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.048;DP=396;ExcessHet=0;FS=3.071;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.951;SOR=0.999	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1032,0,685	9	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.05	2417.43	37	chr3	114350760	.	C	T	2417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.545;DP=496;ExcessHet=0;FS=7.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.406;SOR=0.374	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2429,0,2284	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	0/1:57,23:80:18:18,0,1096	4	0	6	0
chr3	121487389	121487389	T	A	exonic	POLQ	.	stopgain	POLQ:NM_199420:exon16:c.A5542T:p.K1848X	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.303e-05	0	0	0	0	4.504e-05	0	6.072e-05	2.59e-05	4	154602	rs757184831	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0003	1.61e-05	1.416e-05	6.092e-05	4.043e-05	0	0	0	0	0	0.0003	1.709e-05	4.968e-05	0.0001	6.57e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.007596	0.31308	N	0.366664	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.667	0.67564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453337	0.92630	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.693518	0.96770	36	0.99608622989018281	0.74694	0.86377	0.45645	D	AEFDBI	0.249491	0.36971	N	0.616981174195137	0.74247	6.100553	0.460944737967961	0.65425	4.821929	0.0937711946008333	0.16190	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.66	4.49	0.54177	1.815000	0.38620	3.520000	0.38893	0.665000	0.62972	0.729000	0.28913	1.000000	0.68203	0.778000	0.36829	0.0:0.0707:0.1365:0.7928	7.844	0.28576	274	0.89249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1494.43	36	chr3	121487389	.	T	A	1494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.997;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.543;SOR=0.64	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1506,0,1327	9	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:78,42:120:99:231,0,1616	0	0	7	3
chr3	123955845	123955845	G	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366335:exon5:c.C350G:p.T117R	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0340101483177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.171	0.18239	-1.0912	0.05335	T	0.059	0.24834	T	8	0.08301461	0.13765	T	0.03401	0.55380	D	0.030	0.07022	.	.	0.356897458496	0.35304	.	.	.	.	.	.	.	0.022028	0.17054	T	-0.0654578	0.42051	T	-0.331802	0.41268	T	0.0696924750473244	0.08608	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22282	B	.	.	1.345652	0.17528	13.22	0.96071586476479354	0.28626	0.63290	0.32043	D	AEFGBI	0.182323	0.30965	N	-0.610083649503819	0.18640	0.9693889	-0.563239010380719	0.20455	1.102105	0.947279609381334	0.27745	0.706298	0.61202	0	0.633656	0.55848	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.08	1.29	0.20717	0.535000	0.22822	3.608000	0.39244	-0.275000	0.06596	0.832000	0.30162	0.996000	0.32793	0.410000	0.27006	0.6655:0.0:0.1785:0.1561	3.853	0.08472	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	739.43	34	chr3	123955845	.	G	C	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.046;DP=388;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.21;SOR=0.445	GT:AD:DP:GQ:PL	0/1:33,32:65:99:751,0,784	9	0	1	0
chr3	128915213	128915213	C	T	exonic	CFAP92	.	stopgain	CFAP92:NM_001348520:exon14:c.G2313A:p.W771X,CFAP92:NM_001348521:exon15:c.G2217A:p.W739X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	1.427e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000262	0.46590	D	0.155080	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.413241	0.97535	37	0.99430643213232006	0.64227	0.98437	0.82768	D	AEFDBI	0.066606	0.13052	N	0.77148202557775	0.84294	8.248098	0.620154437761453	0.76405	6.484936	0.999960766005551	0.48965	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.31	5.31	0.75063	5.645000	0.67582	2.871000	0.35267	0.549000	0.26987	0.999000	0.42656	0.994000	0.32194	0.915000	0.45038	0.0:1.0:0.0:0.0	14.821	0.69699	600	0.68026	.	.	.	.	.	.	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	1194.43	34	chr3	128915213	.	C	T	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.29;DP=414;ExcessHet=0;FS=1.542;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.323;SOR=0.864	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1206,0,1727	9	0	1	0
chr3	128965581	128965581	T	C	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon8:c.A410G:p.N137S,CFAP92:NM_001348521:exon9:c.A410G:p.N137S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.48038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.59783	A	.	.	3.125863	0.42218	21.5	0.92978479245851642	0.22560	0.77555	0.38145	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.985691377833118	0.30932	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.956275	0.63725	5.48	5.48	0.80675	3.841000	0.55557	7.652000	0.63756	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.0:0.0:1.0	11.963	0.52307	608	0.67185	.	.	.	.	.	.	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	2019.43	34	chr3	128965581	.	T	C	2019.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.324;DP=480;ExcessHet=0;FS=2.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.908;SOR=0.922	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2031,0,1713	9	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	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	0.950000	0.49671	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	.	.	.	.	.	.	.	.	0.05	180.48	36	chr3	130421334	.	G	C	180.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.689;DP=368;ExcessHet=0.7463;FS=106.729;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.653;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,6:46:86:0|1:130421334_G_C:86,0,1626:130421334	9	0	1	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1438.56	46	chr3	130421335	.	G	C	1438.56	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,6:46:86:0|1:130421334_G_C:86,0,1626:130421334	5	0	2	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|1:39,6:45:89:0|1:130421334_G_C:89,0,1604:130421334	1	0	6	3
chr3	130565072	130565072	A	G	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.A740G:p.Y247C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.0341706164559	0.0003	0.000399361	0.0001	0.0007	0	0	0	1.5e-05	0	0.0003	0.0001035	16	154602	rs187765736	8.484e-05	8.482e-05	6.807e-05	0.0001	0.0005	7.21e-05	6.797e-05	0.0004	0.0004	0.0004	0	0	0	0	0.0003	4.857e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.695e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0.0009	0.0002	0.162	0.23541	T	0.002	0.79402	D	0.828	0.46021	P	0.52	0.48197	P	0.356386	0.13737	N	0.662431	1	0.08975	N	2.585	0.75554	M	-1.7	0.83072	D	-2.66	0.56945	D	0.381	0.42247	-0.5496	0.66802	T	0.432	0.77355	T	10	0.09465328	0.16848	T	0.034171	0.55491	D	0.396	0.71084	.	.	0.260249123532	0.25628	0.4042719208634835	0.40343	0.27678225461	0.30148	0.352663248777	0.18313	T	0.210184	0.57060	T	-0.258224	0.13108	T	-0.254664	0.49354	T	0.10632034801284	0.13039	T	0.678032	0.28700	T	0.31761444	0.54437	0.28182268	0.54166	0.31761444	0.54437	0.28182268	0.54165	-7.044	0.54354	T	.	.	0.120	0.24733	B	.	.	1.385912	0.17977	13.48	0.79853184302477787	0.12930	0.22349	0.21716	N	AEFBI	0.145927	0.26926	N	-0.973294173072837	0.09177	0.4332482	-1.12853218820765	0.07159	0.3471937	1.33274751317059E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	-0.673	0.10802	0.421000	0.20999	2.369000	0.32418	-0.729000	0.03740	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.3174:0.3471:0.0:0.3354	6.766	0.22755	671	0.60868	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1156.43	34	chr3	130565072	.	A	G	1156.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.119;DP=399;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.465;SOR=0.409	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1168,0,1113	9	0	1	0
chr3	130571225	130571225	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon6:c.C2809T:p.R937W	.	431	1084	7	0	0	7	0.00321839	.	.	.	438256	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.0780525447816	0.0033	0.000798722	0.0027	0.0009	0.0022	0	0.0014	0.0041	0.0034	0.0006	0.0006015	93	154602	rs111457392	0.0034	0.0034	0.0035	0.0032	0.0061	0.0033	0.0032	0.0045	0.0039	0.0010	0.0029	0.0024	0	0.0009	0.0061	0.0039	0.0031	0.0010	0.0022	0.0022	0.0022	0.0021	0.0050	0.0020	0.0019	0.0041	0.0037	0.0006	0	0.0050	0.0020	0	0.0009	0	0.0030	0.0024	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000067	0.52346	D	0.000000	1	0.08975	N	3.23	0.89537	M	-1.48	0.81150	T	-7.42	0.94814	D	0.759	0.75742	-0.1707	0.78411	T	0.630	0.87021	D	10	0.09041521	0.15750	T	0.078053	0.72915	D	0.502	0.78475	.	.	0.65729183307	0.65442	0.852140444280563	0.85176	0.352803517232	0.37101	0.565125703812	0.47990	T	0.538262	0.84143	D	-0.149589	0.28376	T	0.0146844	0.71286	D	0.104826968530216	0.12878	T	0.954105	0.82551	D	0.760357	0.81474	0.43731967	0.67155	0.760357	0.81476	0.43731967	0.67156	-10.675	0.77845	D	.	.	0.255	0.48998	B	.	.	3.833933	0.55435	23.6	0.99891192713163335	0.96513	0.09176	0.14984	N	AEFBI	0.406518	0.47897	N	0.139886643783906	0.48332	3.046928	-0.0528989722998284	0.37364	2.186816	1.17220063802798E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	-0.348	0.11987	-0.020000	0.12466	-0.580000	0.08381	0.599000	0.40250	0.206000	0.24378	0.004000	0.18990	0.519000	0.29452	0.682:0.2126:0.1054:0.0	9.841	0.40164	597	0.68309	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002518	0.005051	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1778.43	38	chr3	130571225	.	C	T	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=480;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.531;SOR=0.782	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1790,0,1246	9	0	1	0
chr3	150568244	150568244	A	C	exonic	EIF2A	.	nonsynonymous SNV	EIF2A:NM_001319044:exon7:c.A580C:p.T194P,EIF2A:NM_001319043:exon8:c.A688C:p.T230P,EIF2A:NM_001319045:exon9:c.A748C:p.T250P,EIF2A:NM_001319046:exon9:c.A121C:p.T41P,EIF2A:NM_032025:exon9:c.A763C:p.T255P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0213425064669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.53900	D	0.056	0.47097	T	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.73	0.79844	M	1.41	0.33630	T	-3.0	0.62343	D	0.65	0.71232	-0.3658	0.73089	T	0.323	0.69221	T	10	0.70100224	0.72443	D	0.021343	0.44093	T	0.553	0.81544	0.699	0.83592	0.784700991407	0.78271	0.743168788842752	0.74262	0.616629423173	0.56118	0.708202362061	0.68333	T	0.485356	0.81229	T	0.267661	0.80231	D	0.147	0.79975	D	0.947994828224182	0.62800	D	0.933407	0.75038	D	0.7038058	0.78265	0.74330014	0.84827	0.7038058	0.78267	0.74330014	0.84827	-13.337	0.92037	D	.	.	0.918	0.84045	P	.;.;.;.	.;.;.;.	4.822277	0.78552	26.9	0.9964849368424693	0.77130	0.99682	0.98627	D	AEFBI	0.969621	0.99199	D	0.668070418135055	0.77542	6.694877	0.58825442757094	0.74097	6.079336	0.999999805332197	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	8.887000	0.92083	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	16.407	0.83516	928	0.17405	.;Translation initiation factor, beta propellor-like domain;.;Translation initiation factor, beta propellor-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	107.73	59	chr3	150568244	.	A	C	107.73	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.15;DP=336;ExcessHet=0;FS=56.17;InbreedingCoeff=0.1222;MLEAC=2;MLEAF=0.25;MQ=59.89;MQRankSum=0;QD=3.17;ReadPosRankSum=1.05;SOR=5.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,11:34:99:.:.:114,0,351:.	3	0	1	6
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	0/1:72,73:145:99:1764,0,1884	7	0	3	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,33:118:99:.:.:870,0,2684:.	3	0	6	1
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S,SLC33A1:NM_001363883:exon1:c.C352T:p.P118S,SLC33A1:NM_004733:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	330.74	139	chr3	155853646	.	G	A	330.74	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=785;ExcessHet=0.7463;FS=110.027;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=1.52;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,33:125:99:0|1:155853644_G_C:319,0,2870:155853644	7	0	3	0
chr3	157437630	157437630	G	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon2:c.G248C:p.G83A	.	429	1049	42	2	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0003	0.00459265	0.0132	0	0.0021	0	0	0.0056	0.0060	0.0248	0.00326	504	154602	rs148943471	0.0031	0.0032	0.0024	0.0038	0.0239	0.0030	0.0030	0.0230	0.0227	0.0003	0.0011	0.0084	2.762e-05	0.0003	0.0177	0.0017	0.0047	0.0239	0.0023	0.0023	0.0018	0.0029	0.0209	0.0021	0.0021	0.0176	0.0164	0.0005	0	0.0014	0.0081	0.0002	9.413e-05	0.0170	0.0025	0.0033	0.0209	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.035426	0.01802	N	2.026420	0.99764	0.58761	N	2.105	0.58435	M	3.21	0.07125	T	0.02	0.06739	N	0.055	0.02658	-0.9854	0.33735	T	0.012	0.04605	T	10	0.0038408637	0.00073	T	.	.	.	0.080	0.23350	.	.	0.190952846119	0.18690	0.4614426320875624	0.46062	0.247234570018	0.27269	0.649283289909	0.59884	T	0.04848	0.28029	T	-0.715397	0.00029	T	-0.78147	0.02409	T	0.00553688543206395	0.00060	T	0.592841	0.21881	T	0.030456103	0.02712	0.05540971	0.09715	0.030456103	0.02712	0.05540971	0.09714	-3.097	0.11262	T	.	.	0.088	0.11654	B	.	.	2.130164	0.27123	17.35	0.86441003015604689	0.16538	0.59410	0.30907	D	ALL	0.181830	0.30915	N	-0.680120344081012	0.16590	0.8465395	-0.518097625390096	0.21662	1.172889	0.999999997809444	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.18	1.06	0.19341	1.529000	0.35602	1.344000	0.25758	0.618000	0.50648	0.978000	0.35038	0.791000	0.26863	0.939000	0.47918	0.0:0.3428:0.2557:0.4015	7.024	0.24111	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.000000	0.009642	0.008772	0.000000	0.008929	0.009259	0.030534	0.05	837.43	35	chr3	157437630	.	G	C	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-2.271;SOR=0.693	GT:AD:DP:GQ:PL	0/1:29,29:58:99:849,0,724	9	0	1	0
chr3	157442738	157442738	T	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon3:c.T905C:p.V302A	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0268136438354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.022	0.57587	D	0.969	0.56768	D	0.832	0.59730	P	0.000367	0.45194	D	0.198841	0.995121	0.81001	D	2.43	0.70455	M	2.89	0.10196	T	-3.19	0.64593	D	0.341	0.38232	-0.9998	0.29973	T	0.092	0.35228	T	10	0.45706624	0.59055	T	0.026814	0.49694	D	0.381	0.69863	0.725	0.85937	0.61513531927	0.61202	0.771251246932743	0.77075	0.664077401662	0.59052	0.384255051613	0.22858	T	0.202573	0.56079	T	-0.164931	0.26005	T	-0.474688	0.25012	T	0.962833523750305	0.66483	D	0.840916	0.51656	T	0.36167428	0.57964	0.3791893	0.62980	0.36167428	0.57964	0.3791893	0.62980	-8.138	0.62006	D	.	.	0.683	0.72250	P	.	.	4.531872	0.71148	25.6	0.99634010860210587	0.76203	0.96158	0.67799	D	AEFGBCI	0.815904	0.73777	D	0.581646817757659	0.72030	5.741953	0.475410305670346	0.66363	4.942557	0.999999999999814	0.74766	0.645754	0.44609	0	0.563428	0.19063	0	0.696353	0.63694	0	0.723	0.93126	0	.	.	5.86	5.86	0.93936	7.565000	0.81337	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.923000	0.45890	0.0:0.0:0.0:1.0	16.248	0.82278	778	0.48011	LamG-like jellyroll fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2122.43	36	chr3	157442738	.	T	C	2122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.809;DP=481;ExcessHet=0;FS=1.198;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.74;SOR=0.599	GT:AD:DP:GQ:PL	0/1:88,83:171:99:2134,0,2228	9	0	1	0
chr3	172295450	172295450	C	A	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon8:c.C937A:p.P313T,FNDC3B:NM_022763:exon8:c.C937A:p.P313T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00810622615147	.	0.000399361	0.0007	0	0	0.0001	0	2.997e-05	0	0.0046	0.0005239	81	154602	rs555695775	0.0003	0.0003	0.0001	0.0004	0.0045	0.0003	0.0003	0.0041	0.0040	0	2.236e-05	0	0	0	0.0003	6.296e-06	0.0002	0.0045	0.0002	0.0002	8.994e-05	0.0002	0.0046	0.0001	9.231e-05	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.092	0.31682	T	0.113	0.36901	T	0.221	0.30336	B	0.246	0.38861	B	0.000001	0.84330	D	0.097214	0.838426	0.35027	D	0.235	0.09667	N	0.43	0.56772	T	-2.35	0.51968	N	0.181	0.21969	-0.9801	0.34979	T	0.134	0.44700	T	10	0.008096218	0.00184	T	0.008106	0.21495	T	0.116	0.32463	0.443	0.49975	0.171220215726	0.16700	0.4019756284087958	0.40113	0.761476978541	0.64281	0.574085831642	0.49255	T	0.098924	0.40322	T	-0.476345	0.00777	T	-0.45606	0.27030	T	0.149171564207564	0.17037	T	0.755224	0.37818	T	0.20746177	0.42952	0.13956109	0.33296	0.19216152	0.40875	0.14004917	0.33395	-5.331	0.40249	T	.	.	0.248	0.48624	B	.;.;.	.;.;.	3.100322	0.41782	21.4	0.99677429846915178	0.79043	0.62573	0.31823	D	AEFBHCI	0.081810	0.16559	N	0.155143756783092	0.49056	3.110297	0.290316180966948	0.54972	3.660936	0.999999819556546	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.67347	0.61138	0	0.711	0.71501	0	.	.	5.98	5.06	0.67838	0.975000	0.29046	3.892000	0.40300	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.1581:0.6102:0.1522:0.0795	4.643	0.11947	929	0.16858	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	646.43	47	chr3	172295450	.	C	A	646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=408;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.45;SOR=0.936	GT:AD:DP:GQ:PL	0/1:56,33:89:99:658,0,1315	9	0	1	0
chr3	183379378	183379378	G	A	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon3:c.C194T:p.T65M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.042092774022	0.0003	.	0.0003	0	0.0003	0	0	0.0005	0	0	0.0002458	38	154602	rs200353022	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0.0005	0.0040	0	9.368e-05	0.0002	0.0002	0.0005	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0	0	0.0004	0.0029	0	9.422e-05	0	0.0002	0.0005	0	0.001	0.78490	D	0.007	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	0.000721	0.42129	D	0.214818	0.692141	0.33337	D	2.75	0.80375	M	-0.05	0.63403	T	-4.02	0.80340	D	0.808	0.81957	0.237	0.86537	D	0.446	0.78209	T	10	0.034393996	0.01646	T	0.042093	0.60282	D	0.314	0.63588	.	.	0.863614663845	0.86229	0.8776161832569945	0.87728	0.714357934396	0.61881	0.595325767994	0.52245	T	0.077352	0.35633	T	-0.0926492	0.37638	T	-0.0807176	0.64851	T	0.294734567403793	0.24786	T	0.983302	0.94582	D	0.2013564	0.42143	0.25767472	0.51488	0.2013564	0.42143	0.25767472	0.51487	-9.737	0.72480	D	.	.	0.228	0.46037	B	.;.;.;.;.;.	.;.;.;.;.;.	4.741089	0.76452	26.5	0.99901175500161477	0.97275	0.87529	0.47098	D	AEFBI	0.454476	0.50717	N	0.673489635596879	0.77896	6.763797	0.603698854282559	0.75210	6.27009	0.919846800638901	0.26614	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.47	4.59	0.56297	5.080000	0.64267	8.706000	0.78122	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0786:0.0:0.9214:0.0	13.180	0.59069	506	0.75555	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.;.;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1824.43	33	chr3	183379378	.	G	A	1824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.866;DP=497;ExcessHet=0;FS=2.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.162;SOR=0.479	GT:AD:DP:GQ:PL	0/1:93,75:168:99:1836,0,2342	9	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M,CHRD:NM_001304474:exon12:c.C329T:p.T110M,CHRD:NM_003741:exon12:c.C1439T:p.T480M,CHRD:NM_001304473:exon13:c.C329T:p.T110M	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005629	0.000000	0.001366	0.002959	0.000000	0.000000	0.015625	0.015625	0.05	1567.43	42	chr3	184383641	.	C	T	1567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=549;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.31;SOR=0.772	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1579,0,1725	9	0	1	0
chr3	185254016	185254016	C	A	exonic	EHHADH	.	stopgain	EHHADH:NM_001966:exon1:c.G7T:p.E3X	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002088	0.37271	N	0.303092	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.56662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.246944	0.97341	37	0.99533333375611421	0.70025	0.80449	0.40084	D	ALL	0.218205	0.34323	N	0.779319782442578	0.84795	8.388935	0.622112593625657	0.76549	6.511524	1.0	0.98316	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.85	4.85	0.62375	1.316000	0.33226	1.695000	0.28095	0.599000	0.40250	0.863000	0.30666	0.910000	0.28117	0.952000	0.50033	0.0:1.0:0.0:0.0	13.658	0.61824	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1055.43	35	chr3	185254016	.	C	A	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.671;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.237;SOR=0.696	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1067,0,657	9	0	1	0
chr3	185473330	185473330	G	A	exonic	MAP3K13	.	nonsynonymous SNV	MAP3K13:NM_001242317:exon10:c.G1378A:p.A460T,MAP3K13:NM_004721:exon11:c.G1999A:p.A667T,MAP3K13:NM_001242314:exon12:c.G1999A:p.A667T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0103814971554	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs564401067	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.568e-06	6.563e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.023	0.48642	D	0.232	0.30828	T	0.994	0.66517	D	0.723	0.54990	P	0.000118	0.50451	D	0.132994	1	0.81001	D	2.505	0.72935	M	2.52	0.14160	T	-1.0	0.29933	N	0.336	0.43610	-1.1065	0.03388	T	0.042	0.17869	T	10	0.25680017	0.43089	T	0.010381	0.26850	T	0.230	0.53062	0.456	0.52102	0.439749870471	0.43592	0.5981172159055558	0.59742	0.236333348273	0.26171	0.582455396652	0.50431	T	0.034621	0.23393	T	-0.0780641	0.40029	T	-0.253056	0.49516	T	0.66992449760437	0.39334	D	0.744226	0.36553	T	0.07174946	0.15907	0.13698144	0.32754	0.07174946	0.15907	0.13698144	0.32753	-3.472	0.16195	T	.	.	0.639	0.70483	P	.;.;.;.	.;.;.;.	3.291544	0.45147	22.1	0.99803525434769669	0.88817	0.93791	0.59201	D	AEFGBCI	0.680770	0.64435	D	0.0894741811099624	0.45974	2.845002	0.121520214530351	0.45650	2.824554	0.999999995210059	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.47	4.59	0.56297	6.705000	0.74467	3.039000	0.36073	-0.681000	0.04224	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.0:0.1329:0.867:0.0	16.264	0.82389	739	0.53257	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3122.43	33	chr3	185473330	.	G	A	3122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.541;DP=510;ExcessHet=0;FS=0.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=1.79;SOR=0.624	GT:AD:DP:GQ:PL	0/1:83,115:198:99:3134,0,2003	9	0	1	0
chr3	186564152	186564152	T	A	exonic	TBCCD1	.	nonsynonymous SNV	TBCCD1:NM_001134415:exon2:c.A178T:p.I60F,TBCCD1:NM_018138:exon2:c.A178T:p.I60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.164145886734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.92824	D	0.997	0.70673	D	0.944	0.68059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	-0.84	0.74265	T	-2.4	0.70314	N	0.909	0.91047	0.150	0.85059	D	0.540	0.83056	D	10	0.6040953	0.67076	D	0.164146	0.84332	D	0.578	0.82968	0.511	0.60846	0.775400501834	0.77333	0.7466056534558287	0.74606	0.713192987955	0.61806	0.631625235081	0.57376	T	0.283072	0.65583	T	0.150616	0.69326	D	-0.0214273	0.68935	D	0.935144603252411	0.60314	D	0.906409	0.67021	D	0.42050147	0.62125	0.48524758	0.70205	0.42050147	0.62126	0.48524758	0.70205	-3.613	0.18045	T	.	.	0.394	0.74760	A	.;.;.;.	.;.;.;.	4.273020	0.65030	24.8	0.98915821851861052	0.48454	0.99057	0.90596	D	AEFGBI	0.716190	0.66810	D	0.722665942790203	0.81118	7.448024	0.71303107920468	0.83367	8.003413	0.999999999994703	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	5.780000	0.68607	6.121000	0.53786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	13.998	0.63929	850	0.35610	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1372.43	33	chr3	186564152	.	T	A	1372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=420;ExcessHet=0;FS=7.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.833;SOR=1.193	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1384,0,1547	9	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	868.97	2	chr3	195725265	.	C	T	868.97	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.29;DP=65;ExcessHet=0;FS=7.901;MLEAC=7;MLEAF=0.5;MQ=29.22;MQRankSum=0.981;QD=23.49;ReadPosRankSum=0.655;SOR=4.743	GT:AD:DP:GQ:PL	0/1:6,11:17:99:283,0,103	4	2	1	3
chr3	195778848	195778848	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12732G:p.S4244R,MUC4:NM_001322468:exon19:c.C10572G:p.S3524R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.001674397991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.26852	T	0.083	0.41573	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.34	0.40218	T	-1.4	0.41046	N	0.145	0.14622	-1.0635	0.10902	T	0.045	0.19152	T	8	0.09230414	0.16243	T	0.001674	0.02753	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.03665769502132762	0.03612	.	.	0.276885211468	0.07062	T	.	.	.	-0.243001	0.14968	T	-0.58683	0.13941	T	0.155504221895699	0.17533	T	0.715328	0.32778	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56825	A	.;.	.;.	0.623142	0.09915	6.675	0.37993338942710736	0.02536	0.03384	0.08490	N	AEFBI	0.078138	0.15761	N	-0.971185810290453	0.09223	0.4356208	-1.07755433378981	0.08143	0.399099	1.43074782780278E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.85	0.884	0.18317	-0.012000	0.12637	0.749000	0.21222	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6596:0.3404	5.245	0.14808	597	0.68309	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5031.43	312	chr3	195778848	.	G	C	5031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.235;DP=2865;ExcessHet=0;FS=0.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.35;MQRankSum=-5.545;QD=13.71;ReadPosRankSum=2.03;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,154:367:99:0|1:195778793_G_A:5043,0,7113:195778793	9	0	1	0
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	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	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.1875	991.7	23	chr3	195779396	.	C	T	991.7	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.859;DP=1661;ExcessHet=0.9691;FS=0.824;InbreedingCoeff=0.0254;MLEAC=3;MLEAF=0.188;MQ=58.18;MQRankSum=-12.3;QD=2.24;ReadPosRankSum=2.41;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,15:211:40:0|1:195779356_C_G:40,0,8175:195779356	5	0	3	2
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	0|1:197,214:418:99:0|1:195781522_A_G:7934,0,7684:195781522	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	0/1:195,130:466:99:5892,0,9855	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	0/1:155,126:318:99:3200,0,14334	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	0/1:354,126:492:99:3865,0,16978	3	0	4	3
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	4304.11	426	chr3	195783070	.	A	*	4304.11	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.32;DP=4524;ExcessHet=0.8432;FS=3.312;InbreedingCoeff=-0.0992;MLEAC=1;MLEAF=0.063;MQ=58.02;MQRankSum=-12.82;QD=3.4;ReadPosRankSum=-3.095;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,343:724:99:0|1:195783051_T_*:2154,0,15362:195783051	7	0	1	2
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3231.45	189	chr3	195783086	.	A	*	3231.45	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.924;DP=4290;ExcessHet=1.8123;FS=1.145;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.125;MQ=57.7;MQRankSum=-8.752;QD=1.46;ReadPosRankSum=-4.574;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,343:714:99:0|1:195783051_T_*:2189,0,14872:195783051	6	0	2	2
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2590.63	269	chr3	195783332	.	T	*	2590.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.628;DP=2091;ExcessHet=0.0072;FS=7.129;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=53.41;MQRankSum=-3.165;QD=3.64;ReadPosRankSum=5.36;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,50:166:99:.:.:1687,0,4671:.	6	3	1	0
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2541.63	269	chr3	195783335	.	C	*	2541.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.946;DP=2053;ExcessHet=0.0072;FS=7.183;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=52.66;MQRankSum=-2.923;QD=3.62;ReadPosRankSum=5.65;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,50:166:99:.:.:1687,0,4671:.	6	3	1	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	6741.53	262	chr3	195783346	.	A	*	6741.53	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.81;DP=1982;ExcessHet=0;FS=0;InbreedingCoeff=0.6581;MLEAC=9;MLEAF=0.75;MQ=54.66;MQRankSum=1.23;QD=8.5;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,302:388:99:0|1:195783321_A_C:7166,2992,2685:195783321	2	3	1	4
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1207.13	3	chr3	195787579	.	G	*	1207.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.431;DP=745;ExcessHet=0.0952;FS=7.978;InbreedingCoeff=0.3407;MLEAC=4;MLEAF=0.2;MQ=49.95;MQRankSum=0.967;QD=2.23;ReadPosRankSum=-0.967;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,30:213:99:0|1:195787508_T_C:709,0,7585:195787508	7	1	2	0
chr3	195787581	195787581	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	59.43	3	chr3	195787581	.	G	*	59.43	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.967;DP=741;ExcessHet=0.2065;FS=4.68;InbreedingCoeff=0.2001;MLEAC=4;MLEAF=0.2;MQ=34.84;MQRankSum=0.967;QD=0.12;ReadPosRankSum=-0.967;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,30:213:99:0|1:195787508_T_C:709,0,7585:195787508	7	1	2	0
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1013.42	34	chr3	195787584	.	A	*	1013.42	.	AC=4;AF=0.222;AN=18;DP=772;ExcessHet=0.0197;FS=7.978;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=51.31;QD=1.89;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,30:213:99:0|1:195787508_T_C:709,0,7585:195787508	6	1	2	1
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	382.1	14	chr3	195787598	.	GCAT	*	382.1	.	AC=4;AF=0.2;AN=20;DP=738;ExcessHet=0.0135;FS=5.722;InbreedingCoeff=0.5208;MLEAC=4;MLEAF=0.2;MQ=44.27;QD=0.73;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,30:213:99:0|1:195787508_T_C:709,0,7585:195787508	7	1	2	0
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.05	1523.43	33	chr3	196886230	.	G	A	1523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.612;DP=478;ExcessHet=0;FS=3.749;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=1.61;SOR=0.764	GT:AD:DP:GQ:PL	0/1:98,63:161:99:1535,0,2741	9	0	1	0
chr4	2208153	2208153	C	A	exonic	POLN	.	nonsynonymous SNV	POLN:NM_181808:exon5:c.G548T:p.G183V	.	439	1076	7	0	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00486440235815	0.0002	0.000399361	0.0005	0	0.0004	0	0	0.0007	0.0022	0.0003	0.0004851	75	154602	rs145476355	0.0003	0.0003	0.0003	0.0004	0.0061	0.0003	0.0003	0.0045	0.0039	0.0005	0.0004	0.0055	0	0	0.0061	0.0002	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0002	7.218e-05	0	0.0004	0.0055	0	0	0.0136	0.0003	0.0005	0.0004	0.022	0.48642	D	0.224	0.25591	T	0.002	0.09854	B	0.002	0.06944	B	0.037286	0.01831	N	1.961470	1	0.08975	N	0	0.06538	N	3.67	0.04188	T	0.28	0.04233	N	0.109	0.09490	-0.9578	0.39589	T	0.009	0.03403	T	10	0.0064322352	0.00146	T	0.004864	0.12192	T	0.011	0.01250	.	.	0.213573922156	0.20996	0.2078983465201546	0.20705	0.0941472671673	0.10632	0.219302907586	0.01270	T	0.001787	0.01205	T	-0.5354	0.00357	T	-0.666293	0.07848	T	0.0106703783804796	0.00150	T	0.304969	0.05824	T	0.047347385	0.08078	0.062223263	0.12138	0.047347385	0.08078	0.062223263	0.12138	-3.459	0.15863	T	.	.	0.076	0.07272	B	.;.	.;.	0.380614	0.07526	4.173	0.84431217527668567	0.15288	0.01763	0.05540	N	AEFI	0.060293	0.11448	N	-1.21011174215368	0.04852	0.2198662	-1.18068658858636	0.06232	0.2993641	1.23107835998426E-4	0.05386	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.27	1.55	0.22356	0.035000	0.13685	0.858000	0.22201	-0.229000	0.07765	0.001000	0.13787	0.230000	0.23777	0.058000	0.15825	0.0819:0.3097:0.4678:0.1406	4.525	0.11382	618	0.66225	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.004076	0.014620	0.000000	0.025862	0.009146	0.000000	0.05	908.43	35	chr4	2208153	.	C	A	908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=402;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.229;SOR=0.651	GT:AD:DP:GQ:PL	0/1:51,33:84:99:920,0,1371	9	0	1	0
chr4	2304695	2304695	G	A	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C1555T:p.P519S,ZFYVE28:NM_001172659:exon8:c.C1435T:p.P479S,ZFYVE28:NM_020972:exon8:c.C1645T:p.P549S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0318257990511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173469192	9.587e-06	9.577e-06	1.499e-05	4.13e-06	1.16e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.483	0.11795	T	0.001	0.12183	B	0.001	0.06944	B	0.131522	0.02812	N	1.787970	1	0.08975	N	-1.795	0.00292	N	0.49	0.55775	T	-1.22	0.30964	N	0.045	0.01740	-0.9291	0.44270	T	0.036	0.15334	T	10	0.018920451	0.00416	T	0.031826	0.53814	D	0.108	0.30607	0.083	0.00760	0.158540857583	0.15491	0.22120886381997534	0.22035	0.0446812176792	0.04828	0.238459214568	0.02653	T	0.003428	0.02839	T	-0.310239	0.07727	T	-0.683413	0.06777	T	0.0761929930526001	0.09493	T	0.654235	0.26451	T	0.021792248	0.00802	0.041105717	0.04597	0.021792248	0.00802	0.041105717	0.04597	-3.303	0.14285	T	.	.	0.057	0.05360	B	.;.;.	.;.;.	-0.894172	0.00935	0.036	0.90709433690000707	0.19960	0.02981	0.07832	N	AEFBI	0.062020	0.11895	N	-1.63602413402654	0.01095	0.04753957	-1.63931461358868	0.01432	0.06475107	0.998889715486014	0.37891	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.01	-7.02	0.01433	-0.031000	0.12237	-0.227000	0.10711	-0.169000	0.11342	0.002000	0.15269	0.000000	0.08366	0.046000	0.14843	0.5852:0.107:0.102:0.2058	3.471	0.07132	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	.	.	.	.	.	.	.	.	0.05	1644.43	43	chr4	2304695	.	G	A	1644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.994;DP=600;ExcessHet=0;FS=4.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.414;SOR=0.49	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1656,0,1471	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	0/1:73,26:99:27:27,0,1224	4	0	4	2
chr4	2696483	2696483	G	A	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001256666:exon16:c.G2524A:p.V842I,FAM193A:NM_001256668:exon16:c.G2524A:p.V842I,FAM193A:NM_003704:exon16:c.G2524A:p.V842I,FAM193A:NM_001256667:exon17:c.G2590A:p.V864I,FAM193A:NM_001366316:exon18:c.G3226A:p.V1076I,FAM193A:NM_001366318:exon18:c.G3397A:p.V1133I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00839883582262	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs758641625	2.326e-05	2.326e-05	2.178e-05	2.475e-05	4.472e-05	1.674e-05	1.477e-05	1.83e-05	1.582e-05	2.987e-05	4.472e-05	0	0	1.872e-05	0	2.608e-05	0	1.159e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.059	0.41364	T	0.196	0.29843	T	0.066	0.28093	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	1.32	0.35590	T	-0.72	0.20358	N	0.306	0.38541	-1.0748	0.08390	T	0.082	0.32148	T	10	0.13361701	0.25430	T	0.008399	0.22231	T	0.039	0.10176	0.23	0.15705	0.0675242888579	0.06100	0.2853525383445503	0.28448	1.07010202158	0.76782	0.449056863785	0.31815	T	0.015864	0.19191	T	-0.324509	0.06535	T	-0.518008	0.20497	T	0.228325967701328	0.21872	T	0.794021	0.43594	T	0.09696867	0.22850	0.080216736	0.18127	0.09696867	0.22850	0.080216736	0.18127	-7.863	0.60838	D	.	.	0.091	0.13221	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.901048	0.38450	20.7	0.99163263419850356	0.54155	0.91682	0.54040	D	ALL	0.778285	0.71083	D	-0.168476162308607	0.34452	1.966605	-0.0985241867208637	0.35452	2.051217	1.0	0.98316	0.706548	0.73137	0	0.52208	0.09955	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.42	0.52775	7.304000	0.78201	5.841000	0.50249	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0792:0.0:0.9207:0.0	12.719	0.56503	628	0.65206	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1521.43	36	chr4	2696483	.	G	A	1521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.451;SOR=0.723	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1533,0,1417	9	0	1	0
chr4	3463546	3463546	T	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon2:c.T95C:p.V32A,DOK7:NM_001301071:exon2:c.T95C:p.V32A,DOK7:NM_001363811:exon2:c.T95C:p.V32A,DOK7:NM_173660:exon2:c.T95C:p.V32A	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.655968771858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.28646	T	0.027	0.57104	D	0.998	0.73220	D	0.985	0.76457	D	0.002399	0.36650	U	0.000000	0.744356	0.33857	D	2.25	0.63811	M	-3.03	0.92307	D	-2.06	0.47175	N	0.247	0.27910	0.817	0.94625	D	0.808	0.93515	D	10	0.5409583	0.63716	D	0.655969	0.97099	D	0.419	0.72855	0.323	0.30387	0.93986945358	0.93924	0.4642547186380733	0.46344	0.00437898189715	0.00387	0.824047088623	0.85649	D	0.148554	0.48716	T	0.098788	0.64161	D	-0.0958744	0.63716	T	0.853980720043182	0.50512	D	0.805919	0.54741	T	0.13861032	0.32050	0.19804727	0.43618	0.13861032	0.32050	0.19804727	0.43617	-9.565	0.75300	D	0.4899207447858611	0.56701	0.636	0.81093	P	.;.;.	.;.;.	3.739246	0.53529	23.4	0.98374775546964277	0.40791	0.91754	0.54192	D	AEFDBCI	0.640530	0.61819	D	0.407203395496311	0.61818	4.388124	0.302603758906484	0.55692	3.732115	0.999999999857867	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.83	2.83	0.32150	1.109000	0.30749	2.735000	0.34419	0.537000	0.25018	0.982000	0.35529	1.000000	0.68203	0.347000	0.25591	0.0:0.0:0.0:1.0	10.158	0.42011	884	0.28482	.;Pleckstrin homology domain|Pleckstrin homology domain|Dok-7, PH 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	31.69	6	chr4	3463546	.	T	C	31.69	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.83;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.0728;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.085;SOR=0.446	GT:AD:DP:GQ:PL	0/1:10,3:13:43:43,0,292	9	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	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	0/1:104,44:148:99:338,0,2056	1	0	9	0
chr4	15003452	15003452	C	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.C779A:p.P260Q,CPEB2:NM_001177382:exon1:c.C779A:p.P260Q,CPEB2:NM_001177383:exon1:c.C779A:p.P260Q,CPEB2:NM_001177384:exon1:c.C779A:p.P260Q,CPEB2:NM_182485:exon1:c.C779A:p.P260Q,CPEB2:NM_182646:exon1:c.C779A:p.P260Q	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.000798722	0.0104	0	0	.	.	0.0333	0.1	0.0067	0.0005045	78	154602	rs537061668	0.0065	0.0059	0.0065	0.0066	0.0071	0.0064	0.0064	0.0070	0.0069	0.0009	0.0022	0.0059	0	0.0097	0.0014	0.0071	0.0053	0.0021	0.0057	0.0057	0.0059	0.0054	0.0093	0.0054	0.0052	0.0087	0.0085	0.0018	0.0099	0.0014	0.0049	0	0.0082	0.0034	0.0093	0.0028	0.0027	0.278	0.15613	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999784	0.20372	N	.	.	.	0.56	0.54540	T	-0.38	0.14000	N	0.115	0.11912	-1.0375	0.18078	T	0.067	0.27468	T	7	0.0047171116	0.00099	T	.	.	.	0.026	0.05648	.	.	0.151262610727	0.14761	0.16694878466902682	0.16614	0.296207634344	0.32004	0.813390254974	0.84013	D	.	.	.	-0.601185	0.00143	T	-0.625306	0.10773	T	0.00839786589639127	0.00101	T	.	.	.	.	.	.	.	.	.	.	.	-4.36	0.29010	T	.	.	0.067	0.13127	B	.;.	.;.	1.827806	0.23222	15.93	0.92489614042115387	0.21923	0.00749	0.03116	N	ALL	0.042349	0.06559	N	-0.707538709865783	0.15809	0.8000295	-0.788237943674239	0.14783	0.7742541	0.99999972090335	0.74766	0.623204	0.39778	0	0.218748	0.04544	0	0.378051	0.06126	2	0.249971	0.05119	0	.	.	2.09	-0.107	0.12930	-0.723000	0.05056	1.575000	0.27440	-0.584000	0.04686	0.000000	0.06391	1.000000	0.68203	0.794000	0.37478	0.4712:0.3624:0.0:0.1664	2.858	0.05235	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002950	0.014706	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	295.43	36	chr4	15003452	.	C	A	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=312;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.415;SOR=0.34	GT:AD:DP:GQ:PL	0/1:15,11:26:99:307,0,375	9	0	1	0
chr4	44690732	44690732	G	A	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345869:exon11:c.G379A:p.E127K,GUF1:NM_001345867:exon12:c.G379A:p.E127K,GUF1:NM_001345868:exon12:c.G1351A:p.E451K,GUF1:NM_021927:exon12:c.G1351A:p.E451K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.027228511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.151	0.32355	T	0.483	0.36807	P	0.084	0.29270	B	0.000000	0.84330	D	0.044648	0.999997	0.58761	D	1.425	0.35738	L	-0.44	0.69777	T	-1.02	0.26843	N	0.678	0.68516	-0.7650	0.57132	T	0.198	0.55343	T	10	0.44480088	0.58328	T	0.027229	0.50063	D	0.106	0.30130	0.438	0.49157	0.842945499789	0.84144	0.7515191998654405	0.75098	0.132474847726	0.14931	0.59063744545	0.51583	T	0.084903	0.37382	T	0.0267813	0.55294	T	-0.199307	0.54712	T	0.888736486434937	0.53936	D	0.928407	0.73561	D	0.27672786	0.50733	0.27259743	0.53172	0.27672786	0.50733	0.27259743	0.53171	-5.787	0.44461	T	0.25379783692869345	0.34329	0.178	0.38924	B	.	.	3.892468	0.56649	23.8	0.99677755678728241	0.79043	0.98934	0.88834	D	AEFGBI	0.692350	0.65204	D	0.241992807260551	0.53243	3.494207	0.388038753990774	0.60825	4.274781	0.999999999721605	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	5.334000	0.65697	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1353:0.8647:0.0	15.891	0.79076	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	777.43	33	chr4	44690732	.	G	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.264;DP=378;ExcessHet=0;FS=1.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.063;SOR=0.479	GT:AD:DP:GQ:PL	0/1:37,34:71:99:789,0,905	9	0	1	0
chr4	48067638	48067638	C	G	exonic	TXK	.	stoploss	TXK:NM_003328:exon15:c.G1583C:p.X528S	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.29294	0.09343	T	-0.658565	0.08363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.584058	0.09523	6.302	0.66881994369223285	0.08189	0.82640	0.41840	D	AEFDBI	.	.	.	0.245509567436155	0.53418	3.51065	0.0102926123987032	0.40192	2.394748	0.341507473387616	0.19588	0.162113	0.03585	0	0.097471	0.02872	0	0.063197	0.01477	0	0.24566	0.04862	0	0.268177	0.33586	4.95	3.21	0.35933	0.375000	0.20248	0.305000	0.17021	-0.190000	0.09434	0.937000	0.32526	0.988000	0.31051	0.147000	0.20199	0.0:0.8491:0.0:0.1509	12.452	0.55022	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1082.43	35	chr4	48067638	.	C	G	1082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.024;DP=419;ExcessHet=0;FS=3.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.621;SOR=0.428	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1094,0,1548	9	0	1	0
chr4	55959703	55959703	A	C	exonic	CEP135	.	nonsynonymous SNV	CEP135:NM_025009:exon6:c.A636C:p.E212D	.	.	.	.	.	.	.	.	.	.	.	207122	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0002	0.00139776	0.0018	0	0	0.0023	0.0165	0.0012	0.0088	0.0003	0.0014812	229	154602	rs76941356	0.0008	0.0008	0.0008	0.0008	0.0042	0.0008	0.0008	0.0037	0.0035	0	2.236e-05	0	0.0042	0.0145	0.0002	0.0001	0.0013	0.0006	0.0015	0.0015	0.0007	0.0024	0.0037	0.0014	0.0013	0.0024	0.0020	0	0	0	0	0.0037	0.0182	0	0.0002	0	0.0014	0.116	0.29029	T	0.251	0.23638	T	0.997	0.70673	D	0.885	0.62825	P	0.000000	0.84330	D	0.052714	0.955715	0.43003	D	1.745	0.45235	L	0.6	0.53731	T	-2.0	0.46146	N	0.113	0.28732	-0.6319	0.63490	T	0.282	0.65350	T	10	0.00460732	0.00096	T	.	.	.	0.175	0.44197	0.099	0.01433	0.646850752827	0.64392	0.6351119569953729	0.63445	0.251755120529	0.27752	0.488244026899	0.37194	T	0.023593	0.17984	T	-0.396993	0.02423	T	-0.346394	0.39619	T	0.04095710092542	0.03863	T	0.80472	0.45334	T	0.17123732	0.37746	0.17740516	0.40340	0.16657594	0.37001	0.18162265	0.41036	-6.3	0.48722	T	.	.	0.182	0.39596	B	.;.	.;.	2.141521	0.27274	17.41	0.99129589597126089	0.53222	0.76127	0.37314	D	AEFBCI	0.184522	0.31185	N	0.176201410251694	0.50057	3.199559	0.17120673194429	0.48277	3.045764	0.016922862607621	0.12891	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	3.53	0.39533	2.252000	0.42849	3.563000	0.39095	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9234:0.0:0.0766:0.0	10.819	0.45795	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	954.43	35	chr4	55959703	.	A	C	954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.449;DP=428;ExcessHet=0;FS=2.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.421;SOR=0.454	GT:AD:DP:GQ:PL	0/1:71,46:117:99:966,0,1836	9	0	1	0
chr4	76778813	76778813	C	G	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon11:c.C5627G:p.S1876C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0319539014024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	2.726e-06	1.377e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.981e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000125	0.49741	D	0.087556	0.999771	0.48980	D	2.375	0.68372	M	1.39	0.33842	T	-4.06	0.74582	D	0.4	0.44090	-0.6620	0.62188	T	0.229	0.59447	T	10	0.59825563	0.66765	D	0.031954	0.53910	D	0.273	0.58883	0.578	0.70347	0.289027227714	0.28505	0.3124690685352161	0.31159	1.02529329724	0.75255	0.562951624393	0.47684	T	0.29403	0.66672	T	-0.0405544	0.45866	T	-0.29603	0.45141	T	0.994166374206543	0.85300	D	0.920008	0.71084	D	0.48425344	0.66157	0.3684818	0.62137	0.48425344	0.66158	0.3684818	0.62137	-8.359	0.63491	D	.	.	0.114	0.24934	B	.;.	.;.	3.834066	0.55435	23.6	0.99139464395587895	0.53491	0.98914	0.88555	D	AEFBI	0.731266	0.67840	D	0.547794251636959	0.69948	5.430169	0.483533915266744	0.66900	5.012524	0.999999997574727	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	4.557000	0.60491	3.991000	0.40989	0.549000	0.26987	0.868000	0.30757	0.999000	0.35428	0.482000	0.28611	0.0:1.0:0.0:0.0	18.710	0.91617	769	0.49307	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1444.43	33	chr4	76778813	.	C	G	1444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.236;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.369;SOR=0.722	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1456,0,1704	9	0	1	0
chr4	86753030	86753030	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080683:exon20:c.G3188A:p.G1063E,PTPN13:NM_080685:exon20:c.G3188A:p.G1063E	.	4	1450	65	3	0	71	0.0238977	.	.	.	709495	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.075	.	0.0051	0.00599042	0.0072	0.0016	0.0023	0.0001	0.0014	0.0058	0.0046	0.0257	0.0067593	1045	154602	rs61757792	0.0076	0.0077	0.0070	0.0081	0.0249	0.0074	0.0074	0.0240	0.0237	0.0012	0.0022	0.0079	7.603e-05	0.0018	0.0101	0.0071	0.0075	0.0249	0.0048	0.0049	0.0046	0.0050	0.0264	0.0045	0.0044	0.0226	0.0212	0.0014	0	0.0044	0.0069	0	0.0014	0	0.0064	0.0052	0.0264	0.072	0.34982	T	0.015	0.61642	D	0.897	0.49385	P	0.624	0.51529	P	0.001153	0.40056	U	0.000000	0.97235	0.81001	D	1.935	0.51832	L	0.75	0.51228	T	-2.13	0.48354	N	0.375	0.41952	-0.9357	0.43288	T	0.118	0.41451	T	10	0.007902771	0.00179	T	.	.	.	0.075	0.21907	.	.	0.631643887469	0.62863	0.36882168391493325	0.36796	0.0557682884687	0.06166	0.54100227356	0.44587	T	0.089488	0.38383	T	-0.472092	0.00825	T	-0.433318	0.29558	T	0.0327344485482899	0.02427	T	0.778122	0.41194	T	0.12600833	0.29525	0.18099791	0.40935	0.12600833	0.29525	0.18099791	0.40935	-3.895	0.22227	T	.	.	0.150	0.39477	B	.;.;.	.;.;.	4.097530	0.61070	24.3	0.86576947811205285	0.16629	0.82451	0.41677	D	AEFGBI	0.211529	0.33731	N	0.0797420084746258	0.45518	2.807024	0.0835819587956253	0.43722	2.66822	0.00666001195444328	0.11274	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	4.96	4.12	0.47504	3.392000	0.52279	11.824000	0.97325	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.1714:0.0:0.8286:0.0	9.523	0.38314	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.009511	0.000000	0.000000	0.017241	0.012195	0.022727	0.05	1788.43	35	chr4	86753030	.	G	A	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.356;SOR=0.719	GT:AD:DP:GQ:PL	0/1:74,77:151:99:1800,0,1804	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	0|1:0,5:14:99:0|1:87615730_ATAG_A:903,398,352:87615730	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	0|1:0,5:14:99:0|1:87615730_ATAG_A:887,393,514:87615730	4	2	4	0
chr4	94662433	94662433	C	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon11:c.C622G:p.L208V,PDLIM5:NM_001256428:exon11:c.C1231G:p.L411V,PDLIM5:NM_001011513:exon12:c.C1270G:p.L424V,PDLIM5:NM_006457:exon12:c.C1597G:p.L533V,PDLIM5:NM_001256427:exon13:c.C1288G:p.L430V,PDLIM5:NM_001256426:exon16:c.C1684G:p.L562V	.	424	1090	8	0	0	8	0.00365631	.	.	.	2679121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.610	0.0943881906345	.	0.000199681	6.593e-05	9.61e-05	0	0	0	5.997e-05	0	0.0002	6.47e-05	10	154602	rs114255444	7.619e-05	7.257e-05	7.499e-05	7.738e-05	0.0032	6.404e-05	5.984e-05	0.0021	0.0017	0.0002	6.726e-05	0	0	0	0.0032	4.493e-05	0.0003	0.0002	4.599e-05	4.594e-05	5.14e-05	4.032e-05	0.0001	2.109e-05	1.527e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0	0.002	0.72154	D	0.037	0.74150	D	0.948	0.67487	P	0.812	0.67560	P	0.000041	0.55875	D	0.077207	1	0.81001	D	2.765	0.80766	M	-2.39	0.88377	D	-2.07	0.50012	N	0.654	0.67564	0.650	0.92549	D	0.785	0.92708	D	10	0.5017696	0.61590	D	0.094388	0.76243	D	0.610	0.84719	.	.	0.928294165333	0.92756	0.5240608340404989	0.52330	0.530212423702	0.50563	0.565879702568	0.48096	T	0.083596	0.86098	T	0.0178459	0.54090	T	0.047537	0.73421	D	0.499638348817825	0.32616	T	0.970103	0.90356	D	0.4697714	0.65276	0.42369685	0.66232	0.4697714	0.65276	0.42369685	0.66232	-11.3	0.81278	D	.	.	0.313	0.58611	B	.;.;.;.;.;.	.;.;.;.;.;.	4.670575	0.74647	26.2	0.99812836718519138	0.89620	0.96118	0.67615	D	AEFGBI	0.632619	0.61316	D	0.692393778031861	0.79133	7.01398	0.663576961320819	0.79625	7.122133	0.999999948087747	0.74766	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.85	4.96	0.65153	2.034000	0.40767	5.839000	0.50231	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.971000	0.54645	0.1463:0.7817:0.0:0.072	9.230	0.36596	872	0.31118	Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1264.43	41	chr4	94662433	.	C	G	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.395;DP=444;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.937;SOR=0.781	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1276,0,1479	9	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P	.	259	1180	76	7	0	90	0.0367347	.	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	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	0.020141	0.010101	0.004076	0.038012	0.050000	0.025862	0.024390	0.022727	0.05	2195.43	34	chr4	95841007	.	G	C	2195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.7;DP=500;ExcessHet=0;FS=11.501;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.588;SOR=1.279	GT:AD:DP:GQ:PL	0/1:99,80:179:99:2207,0,2329	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	0/1:102,26:128:99:142,0,2693	2	0	8	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,29:99:31:.:.:31,0,1122:.	3	0	6	1
chr4	103161453	103161453	C	A	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon18:c.G1772T:p.S591I,CENPE:NM_001813:exon19:c.G1847T:p.S616I	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0199999303879	0.0002	.	1.66e-05	0	0	0	0	3.008e-05	0	0	1.94e-05	3	154602	rs144782566	4.063e-05	4.036e-05	3.342e-05	4.794e-05	0.0009	3.188e-05	2.915e-05	0.0004	0.0002	0	0	0	0	0	0.0009	3.454e-05	0.0001	8.942e-05	2.631e-05	2.627e-05	2.571e-05	2.694e-05	5.886e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.886e-05	0	0	0.003	0.68238	D	0.21	0.27235	T	0.008	0.14655	B	0.001	0.10090	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.5	0.67874	T	-0.77	0.40660	N	0.136	0.21969	-1.0122	0.26228	T	0.108	0.39075	T	9	0.043705106	0.03248	T	0.02	0.42500	T	0.063	0.18251	.	.	0.576539395642	0.57322	0.04023553371420526	0.03969	0.0431053341588	0.04645	0.346014976501	0.17333	T	0.037303	0.24427	T	-0.191963	0.21971	T	-0.377607	0.36003	T	0.0287682600764864	0.01803	T	0.525647	0.17968	T	0.1252473	0.29365	0.09330758	0.22033	0.1252473	0.29365	0.09330758	0.22032	-4.671	0.33051	T	0.2152650057572829	0.28938	0.084	0.12938	B	.;.;.;.	.;.;.;.	0.644785	0.10131	6.877	0.68445240213857128	0.08660	0.02491	0.06969	N	AEFBI	0.036820	0.04968	N	-1.45543978445712	0.02174	0.09572169	-1.53238438647964	0.02100	0.09605534	0.999798190606738	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	5.32	-7.91	0.01031	-0.397000	0.07329	0.118000	0.14877	-0.341000	0.05685	0.000000	0.06391	0.489000	0.25143	0.333000	0.25271	0.2139:0.4803:0.1141:0.1916	4.205	0.09942	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1206.43	35	chr4	103161453	.	C	A	1206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.159;DP=492;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.286;SOR=0.633	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1218,0,1663	9	0	1	0
chr4	112438645	112438645	T	C	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon12:c.T3116C:p.L1039P,ALPK1:NM_001102406:exon13:c.T3350C:p.L1117P,ALPK1:NM_025144:exon13:c.T3350C:p.L1117P	.	432	1083	5	2	0	9	0.00413793	0.8979	0.82	.	709131	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.429	.	0.0088	0.00359425	0.0073	0.0021	0.0038	0	0.0119	0.0108	0.0033	0.0004	0.0074837	1157	154602	rs35756863	0.0100	0.0100	0.0103	0.0097	0.0119	0.0099	0.0098	0.0117	0.0116	0.0015	0.0043	0.0026	2.52e-05	0.0111	0.0024	0.0119	0.0079	0.0005	0.0076	0.0076	0.0081	0.0071	0.0118	0.0072	0.0071	0.0111	0.0108	0.0026	0.0242	0.0073	0.0014	0.0002	0.0082	0.0136	0.0118	0.0076	0.0008	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.81	0.81869	M	2.36	0.16089	T	-2.46	0.53736	N	0.967	0.98065	-1.0999	0.04103	T	0.070	0.28445	T	10	0.014673233	0.00308	T	.	.	.	0.429	0.73590	.	.	0.54351673446	0.54005	.	.	0.598181219092	0.54992	0.659662127495	0.61361	T	0.144918	0.48178	T	-0.363675	0.03926	T	-0.284139	0.46379	T	0.0152199683013924	0.00334	T	0.865513	0.56452	D	0.80445546	0.84192	0.8646585	0.92498	0.8653628	0.88499	0.8646585	0.92499	-15.323	0.96564	D	0.8576460359881409	0.92203	0.982	0.91469	P	.;.;.	.;.;.	5.219620	0.87595	29.3	0.99914917463294939	0.98309	0.98625	0.84843	D	AEFBI	0.971011	0.99317	D	0.655612135686672	0.76734	6.541156	0.648756628216427	0.78519	6.892431	0.999856749232754	0.44174	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	7.584000	0.81862	7.477000	0.59216	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.361	0.74187	801	0.44448	.;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.05	1465.43	57	chr4	112438645	.	T	C	1465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.697;DP=539;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.111;SOR=0.71	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1477,0,1508	9	0	1	0
chr4	113365098	113365098	G	C	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2221C:p.E741Q,ANK2:NM_001354280:exon19:c.G2242C:p.E748Q,ANK2:NM_001354281:exon19:c.G2221C:p.E741Q,ANK2:NM_001354279:exon20:c.G2257C:p.E753Q,ANK2:NM_001354282:exon20:c.G2257C:p.E753Q,ANK2:NM_001354277:exon37:c.G4309C:p.E1437Q,ANK2:NM_001354260:exon38:c.G4408C:p.E1470Q,ANK2:NM_001354268:exon38:c.G4495C:p.E1499Q,ANK2:NM_001354271:exon38:c.G4408C:p.E1470Q,ANK2:NM_001354273:exon38:c.G4393C:p.E1465Q,ANK2:NM_001354274:exon38:c.G4459C:p.E1487Q,ANK2:NM_001354228:exon39:c.G4594C:p.E1532Q,ANK2:NM_001354245:exon39:c.G4531C:p.E1511Q,ANK2:NM_001354249:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354257:exon39:c.G4432C:p.E1478Q,ANK2:NM_001354258:exon39:c.G4594C:p.E1532Q,ANK2:NM_001354264:exon39:c.G4528C:p.E1510Q,ANK2:NM_001354266:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354267:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354269:exon39:c.G4480C:p.E1494Q,ANK2:NM_001354276:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354236:exon40:c.G4591C:p.E1531Q,ANK2:NM_001354240:exon40:c.G4738C:p.E1580Q,ANK2:NM_001354253:exon40:c.G4468C:p.E1490Q,ANK2:NM_001354261:exon40:c.G4552C:p.E1518Q,ANK2:NM_001354262:exon40:c.G4531C:p.E1511Q,ANK2:NM_001354270:exon40:c.G4468C:p.E1490Q,ANK2:NM_001354275:exon40:c.G4531C:p.E1511Q,ANK2:NM_020977:exon40:c.G4693C:p.E1565Q,ANK2:NM_001148:exon41:c.G10948C:p.E3650Q,ANK2:NM_001354225:exon41:c.G4705C:p.E1569Q,ANK2:NM_001354230:exon41:c.G4672C:p.E1558Q,ANK2:NM_001354231:exon41:c.G4735C:p.E1579Q,ANK2:NM_001354232:exon41:c.G4729C:p.E1577Q,ANK2:NM_001354235:exon41:c.G4690C:p.E1564Q,ANK2:NM_001354241:exon41:c.G4738C:p.E1580Q,ANK2:NM_001354242:exon41:c.G4735C:p.E1579Q,ANK2:NM_001354243:exon41:c.G4630C:p.E1544Q,ANK2:NM_001354246:exon41:c.G4690C:p.E1564Q,ANK2:NM_001354255:exon41:c.G4630C:p.E1544Q,ANK2:NM_001354265:exon41:c.G4690C:p.E1564Q,ANK2:NM_001127493:exon42:c.G4666C:p.E1556Q,ANK2:NM_001354237:exon42:c.G4771C:p.E1591Q,ANK2:NM_001354244:exon42:c.G4627C:p.E1543Q,ANK2:NM_001354254:exon42:c.G4642C:p.E1548Q,ANK2:NM_001354256:exon42:c.G4627C:p.E1543Q,ANK2:NM_001354272:exon42:c.G4564C:p.E1522Q,ANK2:NM_001354239:exon43:c.G4663C:p.E1555Q,ANK2:NM_001354252:exon43:c.G4663C:p.E1555Q	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	188400	Cardiac_arrhythmia,_ankyrin-B-related|not_provided|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0647824733808	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746987182	2.805e-05	2.805e-05	3.539e-05	2.063e-05	8.945e-05	2.087e-05	1.878e-05	2.985e-05	2.022e-05	0	8.945e-05	0	0	0	0	3.148e-05	3.312e-05	0	5.919e-05	5.911e-05	3.858e-05	8.076e-05	0.0001	3.08e-05	2.212e-05	4.766e-05	3.339e-05	0	0	6.551e-05	0	0	0	0	0.0001	0.0005	0	0.052	0.72154	T	0.142	0.70582	T	0.999	0.77913	D	0.998	0.88582	D	0.012406	0.29184	N	0.233665	0.997647	0.44063	D	2.66	0.77858	M	-1.96	0.85091	D	-0.61	0.58733	N	0.312	0.41754	-0.2301	0.76885	T	0.397	0.74923	T	10	0.56864035	0.65193	D	0.064782	0.69382	D	0.694	0.88913	0.386	0.40624	0.828232658422	0.82660	0.4294400424720736	0.42861	0.381822959478	0.39529	0.478410691023	0.35837	T	0.497164	0.96160	T	0.152096	0.69463	D	0.156546	0.80593	D	0.455002371823956	0.30981	T	0.908809	0.77964	D	0.41477168	0.61742	0.3254056	0.58456	0.41477168	0.61742	0.3254056	0.58455	-11.508	0.82372	D	0.16366731299911888	0.20181	0.268	0.52401	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.508166	0.70568	25.5	0.99783662158133613	0.87043	0.98373	0.82117	D	AEFBI	0.841014	0.75824	D	0.387982213936239	0.60770	4.269693	0.410425418929245	0.62213	4.433082	0.999970313135306	0.50053	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	4.46	0.53567	6.379000	0.73086	7.474000	0.59184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0739:0.0:0.9261:0.0	13.889	0.63231	626	0.65439	.;.;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.;Death domain|Death domain|Death 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	1469.43	34	chr4	113365098	.	G	C	1469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=443;ExcessHet=0;FS=1.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.27;SOR=0.544	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1481,0,1773	9	0	1	0
chr4	118282880	118282880	C	G	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon12:c.G2271C:p.R757S	Mental retardation, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.0791151522307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.03	0.54159	D	0.984	0.60733	D	0.88	0.62516	P	0.000001	0.84330	D	0.092640	0.985025	0.40226	D	0.165	0.08973	N	-2.31	0.87750	D	-1.34	0.33401	N	0.442	0.48042	-0.1698	0.78433	T	0.517	0.81903	D	10	0.38958955	0.54793	T	0.079115	0.73159	D	0.528	0.80067	0.537	0.64730	0.801236475193	0.79937	0.8055341132898387	0.80508	0.418444487779	0.42431	0.412324309349	0.26778	T	0.16079	0.50477	T	0.0687046	0.60691	T	-0.139087	0.60197	T	0.832176685333252	0.48700	D	0.737326	0.35372	T	0.2765532	0.50716	0.15489325	0.36332	0.2765532	0.50716	0.15489325	0.36331	-6.977	0.53866	T	.	.	0.426	0.60983	A	.	.	3.379174	0.46730	22.3	0.99479091863968205	0.66795	0.90523	0.51769	D	ALL	0.540864	0.55725	D	0.148132273511903	0.48725	3.081158	0.186802457122497	0.49122	3.119396	1.0	0.98316	0.634777	0.41761	0	0.0	0.00010	3	0.643519	0.47002	0	0.592323	0.36904	0	.	.	5.88	3.21	0.35933	0.460000	0.21635	-0.140000	0.11527	0.549000	0.26987	0.997000	0.40164	0.038000	0.21505	0.999000	0.91618	0.0:0.6465:0.0:0.3535	9.451	0.37889	952	0.10565	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	764.43	33	chr4	118282880	.	C	G	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.158;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.964;SOR=0.664	GT:AD:DP:GQ:PL	0/1:50,32:82:99:776,0,1313	9	0	1	0
chr4	121037369	121037369	G	C	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.C602G:p.T201S	.	436	1077	9	0	0	9	0.00416089	.	.	.	2820144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.204	0.0216872234593	0.0005	0.000199681	0.0010	0	0.0011	0	0	0.0013	0.0011	0.0007	0.0008667	134	154602	rs200466645	0.0007	0.0007	0.0007	0.0007	0.0146	0.0007	0.0007	0.0121	0.0111	0.0002	0.0012	0.0096	0	5.616e-05	0.0146	0.0004	0.0014	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0007	9.622e-05	0	0.0012	0.0112	0	0	0.0068	0.0005	0.0047	0.0002	0.276	0.15717	T	0.507	0.10930	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.65	0.52642	T	-0.44	0.14588	N	0.455	0.49237	-0.8705	0.50491	T	0.244	0.61319	T	10	0.008491099	0.00192	T	0.021687	0.44492	T	0.204	0.49076	0.196	0.10839	0.763780976484	0.76162	0.2937056347189592	0.29283	0.254108365317	0.27978	0.424705028534	0.28483	T	0.020045	0.15851	T	-0.203961	0.20235	T	-0.111304	0.62506	T	0.0608263988505474	0.07298	T	0.829717	0.49530	T	0.1737543	0.38141	0.15245628	0.35868	0.1737543	0.38141	0.15245628	0.35868	-2.469	0.05573	T	.	.	0.109	0.20780	B	.	.	2.484811	0.32052	18.93	0.987535742626932	0.45694	0.99237	0.93252	D	AEFBI	0.955310	0.97306	D	0.707482115093681	0.80125	7.225069	0.73993664393508	0.85405	8.570237	0.99999999998645	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	8.119000	0.89444	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.135	0.98019	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	1	0	0.009063	0.000000	0.010870	0.023392	0.000000	0.017241	0.003049	0.000000	0.05	2361.43	133	chr4	121037369	.	G	C	2361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=1196;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.259;SOR=0.789	GT:AD:DP:GQ:PL	0/1:85,89:174:99:2373,0,2121	9	0	1	0
chr4	125450146	125450146	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G9136A:p.A3046T,FAT4:NM_001291303:exon10:c.G9136A:p.A3046T,FAT4:NM_024582:exon10:c.G9130A:p.A3044T	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0097811890529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.14497	T	0.003	0.76473	D	0.92	0.51019	P	0.582	0.50238	P	0.114002	0.19292	U	0.268989	0.999641	0.48019	D	0.985	0.24966	L	0.81	0.48460	T	-1.49	0.38540	N	0.429	0.49237	-1.0516	0.13954	T	0.133	0.44661	T	10	0.27152833	0.44691	T	0.009781	0.25518	T	0.097	0.27909	0.436	0.48828	0.260580752073	0.25663	0.4072337811848174	0.40639	0.350990176469	0.36944	0.44729244709	0.31575	T	0.079482	0.36140	T	-0.0856307	0.38796	T	-0.360779	0.37964	T	0.53413745406617	0.33887	D	0.89801	0.64352	D	0.09152507	0.21449	0.10410685	0.24996	0.09152507	0.21449	0.10410685	0.24995	-4.692	0.33307	T	.	.	0.084	0.09723	B	.;.	.;.	2.974956	0.39663	21.0	0.99778197859703555	0.86519	0.95142	0.63592	D	AEFBI	0.434717	0.49565	N	0.334696669842401	0.57937	3.963259	0.445197975597489	0.64409	4.695434	0.868095149753161	0.25359	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	5.329000	0.65670	9.921000	0.82504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.8554:0.1446	15.745	0.77702	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1899.43	109	chr4	125450146	.	G	A	1899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.425;DP=1171;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.903;SOR=0.614	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1911,0,2556	9	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	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	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	89.43	69	chr4	127704250	.	G	C	89.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.437;DP=367;ExcessHet=0;FS=143.25;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.25;SOR=6.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:127704250_G_C:101,0,1010:127704250	9	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	89.63	69	chr4	127704251	.	G	C	89.63	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.145;DP=318;ExcessHet=0;FS=143.25;InbreedingCoeff=-0.0663;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.25;SOR=6.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:127704250_G_C:101,0,1010:127704250	9	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	194.97	74	chr4	134199956	.	C	T	194.97	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.043;DP=669;ExcessHet=0.2348;FS=150.836;InbreedingCoeff=-0.2091;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.51;SOR=8.155	GT:AD:DP:GQ:PL	0/1:44,23:67:99:135,0,665	6	0	2	2
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L,PABPC4L:NM_001363585:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	352.14	44	chr4	134200395	.	C	G	352.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.175;DP=1193;ExcessHet=0.2348;FS=392.746;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.83;SOR=9.022	GT:AD:DP:GQ:PL	0/1:139,44:183:45:45,0,2615	8	0	2	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|1:59,20:79:99:0|1:140563137_C_G:146,0,1776:140563137	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|1:59,20:79:99:0|1:140563137_C_G:146,0,1776:140563137	0	0	9	1
chr4	143214872	143214872	A	G	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon9:c.A2896G:p.I966V,USP38:NM_032557:exon9:c.A2896G:p.I966V,USP38:NM_001290326:exon10:c.A1531G:p.I511V	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00388176495288	7.7e-05	0.00219649	0.0013	0	0.0004	0	0.0002	0.0005	0.0022	0.0074	0.0011966	185	154602	rs34511898	0.0007	0.0007	0.0005	0.0009	0.0097	0.0006	0.0006	0.0077	0.0070	0.0002	0.0004	0	5.043e-05	0	0.0097	0.0003	0.0010	0.0063	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	9.62e-05	0	0.0004	0	0	0	0.0034	0.0004	0.0014	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002323	0.36766	N	0.266852	0.990221	0.24198	N	-1.87	0.00254	N	3.3	0.06368	T	0.22	0.04694	N	0.034	0.00942	-0.9532	0.40416	T	0.005	0.01615	T	10	0.0028949678	0.00046	T	0.003882	0.09117	T	0.099	0.28413	.	.	0.208000267992	0.20380	0.07072708280217306	0.07009	0.100027882419	0.11303	0.287045925856	0.08494	T	0.018406	0.14841	T	-0.714274	0.00030	T	-0.795196	0.02025	T	0.00843170338910793	0.00102	T	0.679332	0.28809	T	0.031801905	0.03088	0.028243097	0.01043	0.031801905	0.03087	0.028243097	0.01043	-3.337	0.16812	T	.	.	0.064	0.01645	B	.;.	.;.	1.087629	0.14711	11.26	0.41531138822335889	0.03002	0.56177	0.30051	D	AEFBI	0.060810	0.11582	N	-0.659996962292792	0.17169	0.8812293	-0.332924558462829	0.27042	1.497827	0.987969778514954	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.88	5.0	0.66209	1.853000	0.38998	3.928000	0.40516	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0837:0.0:0.9163:0.0	12.481	0.55184	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.006793	0.026946	0.000000	0.000000	0.000000	0.003788	0.05	1298.43	86	chr4	143214872	.	A	G	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.351;DP=560;ExcessHet=0;FS=4.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.196;SOR=0.385	GT:AD:DP:GQ:PL	0/1:68,52:120:99:1310,0,1853	9	0	1	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S	.	441	1040	41	0	0	41	0.0193305	.	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.005051	0.013587	0.040936	0.000000	0.025862	0.006098	0.022727	0.05	802.43	33	chr4	174259787	.	T	C	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.276;DP=378;ExcessHet=0;FS=2.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.433;SOR=0.687	GT:AD:DP:GQ:PL	0/1:35,32:67:99:814,0,880	9	0	1	0
chr4	174977762	174977762	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2237T:p.T746M,ADAM29:NM_001130705:exon3:c.C2237T:p.T746M,ADAM29:NM_001130703:exon4:c.C2237T:p.T746M,ADAM29:NM_001130704:exon4:c.C2237T:p.T746M,ADAM29:NM_014269:exon5:c.C2237T:p.T746M,ADAM29:NM_001278125:exon6:c.C2237T:p.T746M,ADAM29:NM_001278126:exon6:c.C2237T:p.T746M	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00347788547916	.	.	0.0007	0	0.0004	0	0	0.0005	0.0022	0.0026	7.76e-05	12	154602	rs142711835	0.0004	0.0004	0.0002	0.0005	0.0065	0.0003	0.0003	0.0048	0.0042	0	0.0004	0.0007	0	1.874e-05	0.0065	0.0001	0.0008	0.0029	0.0002	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.415e-05	0	0.0004	0.0003	0	0	0.0035	0.0002	0.0010	0.0031	0.138	0.25873	T	0.009	0.66756	D	0.991	0.64070	D	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.5	0.02032	T	-0.17	0.09627	N	0.24	0.27077	-0.8499	0.51975	T	0.005	0.01651	T	8	0.0114863515	0.00251	T	0.003478	0.07878	T	0.053	0.14996	.	.	0.209622950755	0.20551	0.09652196550229174	0.09584	0.0750720904169	0.08422	0.265156507492	0.05521	T	0.002436	0.01826	T	-0.613562	0.00120	T	-0.659663	0.08290	T	0.0399643401919718	0.03683	T	0.585041	0.21304	T	0.016273126	0.00187	0.029660968	0.01328	0.016273126	0.00187	0.029660968	0.01328	-4.435	0.30028	T	.	.	0.077	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	0.610561	0.09792	6.556	0.96266335432899974	0.29234	0.00393	0.01973	N	AEFBI	0.024951	0.01629	N	-0.783625961754949	0.13736	0.6788855	-0.979396958444803	0.10248	0.5149442	2.33857128395381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.582	0.16594	-0.240000	0.08970	-4.095000	0.02345	0.437000	0.21030	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.802:0.0:0.198	6.178	0.19672	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.007576	0.05	6905.43	34	chr4	174977762	.	C	T	6905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=954;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=-0.988;QD=11.89;ReadPosRankSum=0.833;SOR=0.616	GT:AD:DP:GQ:PL	0/1:288,293:581:99:6917,0,6570	9	0	1	0
chr4	186609920	186609920	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon15:c.G9949A:p.D3317N	.	434	1084	4	0	0	4	0.00184162	.	.	.	709287	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.349	0.0962073401596	0.0002	0.000199681	0.0006	0.0002	0.0003	0.0001	0	0.0003	0.0022	0.0025	0.0004722	73	154602	rs199989457	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0005	0.0023	0.0022	0.0001	0.0003	0	5.038e-05	1.873e-05	0.0007	0.0005	0.0005	0.0026	0.0004	0.0004	0.0005	0.0002	0.0027	0.0003	0.0003	0.0016	0.0013	0.0001	0	0	0	0	0	0	0.0005	0.0005	0.0027	0.041	0.41915	D	0.248	0.23914	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	4.67	0.01735	T	-1.53	0.37178	N	0.759	0.75742	-0.5681	0.66090	T	0.013	0.05081	T	10	0.05082819	0.04874	T	0.096207	0.76563	D	0.349	0.67049	.	.	0.432154444652	0.42834	0.519538591575162	0.51876	0.49701952007	0.48195	0.648297071457	0.59744	T	0.117551	0.43771	T	-0.554586	0.00274	T	-0.574638	0.15027	T	0.0596797902304094	0.07118	T	0.60154	0.22486	T	0.19423354	0.41165	0.115783885	0.27951	0.19423354	0.41165	0.115783885	0.27950	-3.675	0.18950	T	.	.	0.242	0.47665	B	.;.	.;.	3.890713	0.56604	23.8	0.99435982602710948	0.64522	0.98907	0.88457	D	AEFBI	0.942213	0.94651	D	0.412761421925094	0.62121	4.423162	0.403800005964557	0.61800	4.385445	0.999999999999777	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.22	5.22	0.72285	7.844000	0.85149	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:1.0:0.0:0.0	18.975	0.92708	864	0.32732	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1160.43	36	chr4	186609920	.	C	T	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1172,0,1053	9	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.1	1468.99	61	chr5	840546	.	A	G	1468.99	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.664;DP=1302;ExcessHet=0.2348;FS=11.033;InbreedingCoeff=-0.0938;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-17.52;QD=2.73;ReadPosRankSum=-4.324;SOR=2.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,55:316:99:0|1:840529_G_C:1479,0,10604:840529	8	0	2	0
chr5	40852672	40852672	T	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.T1340C:p.L447P	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.012432885817	.	0.000199681	9.895e-05	9.625e-05	0.0003	0	0	9.004e-05	0	0.0001	0.0001229	19	154602	rs143022216	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	8.723e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.808e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000422	0.44522	D	0.000000	1	0.81001	D	2.27	0.64531	M	2.27	0.17431	T	-5.98	0.89334	D	0.867	0.86404	-1.0765	0.08043	T	0.098	0.36677	T	10	0.6851915	0.71519	D	0.012433	0.30996	T	0.429	0.73590	.	.	0.415055319159	0.41122	0.7552021941774799	0.75467	0.249479662165	0.27528	0.438466489315	0.30368	T	0.170054	0.51765	T	0.00419462	0.52231	T	0.0742255	0.75193	D	0.214120922741859	0.21166	T	0.437256	0.12012	T	0.899575	0.91345	0.88316613	0.93784	0.899575	0.91346	0.88316613	0.93784	-8.8	0.66400	D	.	.	0.255	0.48928	B	.	.	2.917260	0.38715	20.8	0.98911227897141518	0.48381	0.87934	0.47649	D	AEFBI	0.765485	0.70196	D	0.437832267151663	0.63516	4.586854	0.337237355742674	0.57743	3.941146	0.999999998517306	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.830000	0.75110	7.179000	0.57745	0.665000	0.62972	0.898000	0.31380	0.999000	0.35428	0.509000	0.29221	0.0:0.0:0.0:1.0	13.392	0.60274	480	0.77422	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.005435	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	2106.43	34	chr5	40852672	.	T	C	2106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.817;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.295;SOR=0.66	GT:AD:DP:GQ:PL	0/1:92,88:180:99:2118,0,2452	9	0	1	0
chr5	56859791	56859791	A	G	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon3:c.A710G:p.Q237R	46XY sex reversal 6, Autosomal dominant	0	1486	33	3	0	39	0.0129525	.	.	.	246988	not_provided|not_specified|46,XY_sex_reversal_6	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0006	0.000798722	0.0018	0.0003	0.0065	0	0	0.0015	0.0102	0.0020	0.0015394	238	154602	rs55694258	0.0009	0.0009	0.0009	0.0010	0.0219	0.0009	0.0009	0.0188	0.0176	0.0008	0.0039	0.0015	0	1.873e-05	0.0219	0.0007	0.0016	0.0020	0.0009	0.0009	0.0009	0.0010	0.0024	0.0008	0.0007	0.0018	0.0016	0.0003	0	0.0024	0.0020	0	9.411e-05	0.0272	0.0009	0.0038	0.0004	0.006	0.61437	D	0.481	0.11864	T	0.0	0.02946	B	0.0	0.01387	B	0.587908	0.11078	N	0.837756	0.999939	0.19363	N	0.805	0.20218	L	-0.34	0.68474	T	-0.26	0.11185	N	0.188	0.20528	-1.0356	0.18668	T	0.115	0.40695	T	10	0.0047872365	0.00101	T	.	.	.	0.137	0.36984	.	.	0.767770749785	0.76565	0.31167554021633687	0.31080	0.279873614581	0.30470	0.311512827873	0.12135	T	0.055951	0.30151	T	-0.456778	0.01029	T	-0.430062	0.29928	T	0.00589602414781587	0.00065	T	0.490351	0.15073	T	0.11099415	0.26231	0.0930921	0.21972	0.11099415	0.26231	0.0930921	0.21971	-2.332	0.04733	T	0.13438310379934096	0.14510	0.086	0.10691	B	.	.	0.535943	0.09045	5.828	0.96312841096384838	0.29387	0.16668	0.19494	N	AEFBI	0.065049	0.12665	N	-1.08706520600638	0.06880	0.3180284	-1.11087423519471	0.07492	0.3646073	0.997200512597275	0.35373	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	-3.69	0.04162	0.455000	0.21555	0.471000	0.18712	0.756000	0.94297	0.073000	0.22155	0.001000	0.17328	0.102000	0.18378	0.3117:0.428:0.0612:0.1991	4.332	0.10510	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	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	0.021148	0.005051	0.024457	0.046784	0.100000	0.025862	0.015244	0.000000	0.05	1058.43	34	chr5	56859791	.	A	G	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=363;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=0.989;SOR=0.739	GT:AD:DP:GQ:PL	0/1:10,43:53:99:1070,0,123	9	0	1	0
chr5	73447402	73447429	CGGCGGCCGCGCCGTGCGGTGGCGGGGG	-	exonic	FOXD1	.	frameshift deletion	FOXD1:NM_004472:exon1:c.934_961del:p.P312Sfs*252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59.1	.	chr5	73447401	.	TCGGCGGCCGCGCCGTGCGGTGGCGGGGG	T	59.1	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.524;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,246	4	0	1	5
chr5	75091304	75091304	A	C	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon22:c.T5258G:p.L1753R,ANKRD31:NM_001372053:exon23:c.T5429G:p.L1810R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.111300731309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.536115	0.32015	D	2.175	0.60977	M	0.62	0.53302	T	-2.16	0.48850	N	0.818	0.81360	-0.4146	0.71563	T	0.219	0.58201	T	7	0.32827377	0.50099	T	0.111301	0.78903	D	0.231	0.53208	0.592	0.72123	0.324436698001	0.32047	0.4334824194705021	0.43265	.	.	0.446837604046	0.31512	T	0.134526	0.46582	T	0.00921274	0.52917	T	-0.224543	0.52299	T	0.968923926353455	0.68410	D	0.765223	0.39255	T	0.68806475	0.77406	0.7303932	0.84070	0.68806475	0.77408	0.7303932	0.84071	-3.561	0.17296	T	.	.	0.768	0.75820	P	.;.	.;.	4.592418	0.72660	25.9	0.99692932394309353	0.80044	0.90900	0.52474	D	AEFBI	0.512492	0.54068	D	0.392221919617404	0.60999	4.295452	0.440081407134247	0.64082	4.655465	0.999986021535768	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	4.818000	0.62347	11.108000	0.86264	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.614	0.55925	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	924.43	34	chr5	75091304	.	A	C	924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=399;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.375;SOR=0.551	GT:AD:DP:GQ:PL	0/1:50,44:94:99:936,0,1051	9	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	338.25	123	chr5	75146001	.	A	G	338.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.389;DP=800;ExcessHet=2.8389;FS=86.742;InbreedingCoeff=-0.316;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.96;SOR=9.297	GT:AD:DP:GQ:PL	0/1:63,17:80:73:73,0,1300	5	0	5	0
chr5	80437332	80437332	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_001284237:exon3:c.C647T:p.S216L,ZFYVE16:NM_014733:exon3:c.C647T:p.S216L,ZFYVE16:NM_001105251:exon4:c.C647T:p.S216L,ZFYVE16:NM_001284236:exon4:c.C647T:p.S216L,ZFYVE16:NM_001349434:exon4:c.C647T:p.S216L	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00600571349863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.06030	T	0.372	0.16376	T	0.002	0.09854	B	0.004	0.10090	B	0.219894	0.16163	N	0.518702	0.99782	0.22489	N	0.55	0.14455	N	1.14	0.38397	T	-0.89	0.24026	N	0.093	0.11769	-0.9933	0.31749	T	0.040	0.17106	T	10	0.044118315	0.03334	T	0.006006	0.15668	T	0.030	0.07022	0.275	0.22687	0.352262096564	0.34836	0.12811700135283888	0.12736	0.0426833663064	0.04603	0.292248100042	0.09250	T	0.004795	0.04206	T	-0.319811	0.06912	T	-0.697163	0.05982	T	0.0301871709525585	0.02018	T	0.746025	0.36642	T	0.043378968	0.06748	0.04774323	0.06944	0.043378968	0.06748	0.04774323	0.06944	-3.981	0.23518	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	1.839313	0.23369	15.99	0.36170304872751802	0.02312	0.22143	0.21646	N	AEFBI	0.041230	0.06241	N	-0.902758784211391	0.10778	0.5167009	-0.794847114495535	0.14622	0.7649157	0.0438572772105586	0.14588	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.24	-0.48	0.11483	-0.065000	0.11575	0.787000	0.21533	0.549000	0.26987	0.336000	0.25640	0.997000	0.33255	0.971000	0.54645	0.0:0.5682:0.0:0.4318	10.014	0.41175	872	0.31118	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1702.43	86	chr5	80437332	.	C	T	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.252;DP=726;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.13;SOR=0.605	GT:AD:DP:GQ:PL	0/1:47,63:110:99:1714,0,1292	9	0	1	0
chr5	119134101	119134101	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.C2177T:p.A726V,DMXL1:NM_001290322:exon12:c.C1658T:p.A553V,DMXL1:NM_005509:exon12:c.C2177T:p.A726V,DMXL1:NM_001349239:exon13:c.C2177T:p.A726V,DMXL1:NM_001349240:exon13:c.C2177T:p.A726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.14605528956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312697686	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	0.94	0.43672	T	-3.78	0.71519	D	0.89	0.90251	-0.5095	0.68305	T	0.301	0.67176	T	9	0.77610016	0.77471	D	0.146055	0.82820	D	0.500	0.78350	0.357	0.35897	0.379559396232	0.37572	0.8436559584663397	0.84326	0.363131982536	0.37948	0.868579685688	0.92364	D	0.272763	0.76941	T	0.216773	0.75470	D	0.0736025	0.75151	D	0.996248662471771	0.88951	D	0.988501	0.96026	D	0.8040572	0.84165	0.68002355	0.81200	0.8040572	0.84167	0.68002355	0.81201	-8.713	0.65830	D	.	.	0.934	0.85795	P	.;.	.;.	4.738853	0.76397	26.5	0.99919780542108916	0.98654	0.98302	0.81423	D	AEFBI	0.870749	0.79184	D	0.801052545216315	0.86171	8.800886	0.777876996050408	0.88216	9.499908	0.999999999224703	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	7.651000	0.63703	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.467	0.94937	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	42.02	131	chr5	119134101	.	C	T	42.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.412;DP=695;ExcessHet=0.2348;FS=314.114;InbreedingCoeff=-0.1029;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.18;ReadPosRankSum=1.26;SOR=8.789	GT:AD:DP:GQ:PL	0/1:80,28:108:50:50,0,1746	8	0	2	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	151.08	54	chr5	128288438	.	C	G	151.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.632;DP=606;ExcessHet=0.2633;FS=262.712;InbreedingCoeff=-0.4006;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.15;SOR=8.409	GT:AD:DP:GQ:PL	0/1:71,33:104:71:71,0,801	2	0	2	6
chr5	132603440	132603440	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon14:c.A2348G:p.E783G	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152207	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	0.00599465479304	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374550615	7.526e-06	7.524e-06	5.446e-06	9.627e-06	0.0002	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.45318	T	0.996	0.68779	D	0.883	0.62698	P	0.000000	0.84330	D	0.051486	1	0.81001	D	1.935	0.51832	L	.	.	.	.	.	.	0.728	0.72925	-1.1234	0.02127	T	0.034	0.14552	T	10	0.64749825	0.69411	D	0.005995	0.15638	T	0.291	0.61040	.	.	0.698509492642	0.69590	0.2630429116726125	0.26217	.	.	0.518446564674	0.41407	T	0.322394	0.69341	T	0.221623	0.75929	D	0.0805698	0.75615	D	0.936691701412201	0.60589	D	0.825317	0.48765	T	0.26030654	0.49087	0.31124777	0.57132	0.26030654	0.49087	0.31124777	0.57131	-6.287	0.48619	T	0.3079365990184664	0.40570	0.128	0.27373	B	.;.;.;.	.;.;.;.	4.209821	0.63596	24.6	0.99929517713596949	0.99279	0.99062	0.90669	D	AEFBI	0.910600	0.86873	D	0.626936297376999	0.74884	6.209182	0.656036641075826	0.79062	7.003457	0.999999990051678	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	8.676000	0.90929	9.278000	0.79691	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.301	0.73652	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	901.43	34	chr5	132603440	.	A	G	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.562;DP=410;ExcessHet=0;FS=2.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.015;SOR=0.529	GT:AD:DP:GQ:PL	0/1:53,41:94:99:913,0,1368	9	0	1	0
chr5	132603986	132603986	G	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon15:c.G2464C:p.D822H	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152208	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00228876179948	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782501	5.475e-06	5.472e-06	5.448e-06	5.503e-06	0.0002	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.298e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.41239	T	0.001	0.07471	B	0.003	0.08700	B	0.018534	0.27462	N	0.444430	0.998705	0.23691	N	1.39	0.34934	L	.	.	.	.	.	.	0.212	0.23632	-1.0304	0.20325	T	0.029	0.12409	T	10	0.11068222	0.20698	T	0.002289	0.04397	T	0.021	0.04004	0.415	0.45380	0.443999229985	0.44019	0.26529107436185095	0.26442	.	.	0.365473985672	0.20180	T	0.143182	0.47916	T	-0.130523	0.31413	T	-0.425263	0.30473	T	0.256202459335327	0.23148	T	0.827017	0.49049	T	0.036515236	0.04506	0.07757694	0.17296	0.036515236	0.04506	0.07757694	0.17296	-5.522	0.42073	T	0.3779003437927019	0.47268	0.140	0.30765	B	.;.;.;.	.;.;.;.	3.011011	0.40265	21.1	0.95105397780120438	0.26185	0.83094	0.42241	D	AEFDBCI	0.330173	0.43029	N	-0.52541795849528	0.21260	1.126994	-0.365345658435262	0.26038	1.435722	0.99991048555616	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	1.78	0.23918	2.480000	0.44865	3.909000	0.40397	-0.153000	0.12021	0.983000	0.35670	1.000000	0.68203	0.982000	0.59238	0.3725:0.1281:0.4994:0.0	5.826	0.17808	832	0.38914	.;.;.;.	.	.	.	.	.	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	1483.43	34	chr5	132603986	.	G	C	1483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.026;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.057;SOR=0.682	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1495,0,1372	9	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	828.45	73	chr5	139887481	.	C	T	828.45	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.427;DP=978;ExcessHet=0.7463;FS=254.507;InbreedingCoeff=-0.2159;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.58;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,19:111:14:0|1:139887481_C_T:14,0,2942:139887481	6	0	3	1
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	248.99	170	chr5	141173766	.	G	A	248.99	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.053;DP=1428;ExcessHet=0.2348;FS=204.026;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.239;SOR=9.704	GT:AD:DP:GQ:PL	0/1:127,44:182:65:65,0,2165	2	0	2	6
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	0/1:159,40:199:99:.:.:392,0,3797:.	1	0	8	1
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K,PCDHGB5:NM_032099:exon1:c.G1268A:p.R423K	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;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	0.015609	0.000000	0.005435	0.011696	0.000000	0.017241	0.024390	0.022727	0.05	2579.43	126	chr5	141399395	.	G	A	2579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.976;DP=855;ExcessHet=0;FS=2.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.206;SOR=0.696	GT:AD:DP:GQ:PL	0/1:133,111:244:99:2591,0,3162	9	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	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	0/1:188,95:283:99:387,0,3882	3	0	7	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,PCDHGB6:NM_032100:exon1:c.A193G:p.K65E	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|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	0.042347	0.025253	0.023098	0.053797	0.050000	0.043103	0.042945	0.049242	0.05	1758.43	40	chr5	141408395	.	A	G	1758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.191;DP=641;ExcessHet=0;FS=3.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.7;MQRankSum=-7.886;QD=9.56;ReadPosRankSum=0.408;SOR=0.665	GT:AD:DP:GQ:PL	0/1:102,82:184:99:1770,0,2725	9	0	1	0
chr5	141431930	141431930	C	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C1171A:p.P391T,PCDHGA12:NM_032094:exon1:c.C1171A:p.P391T	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0313314703212	.	.	0.0002	0	8.64e-05	0	0	2.999e-05	0	0.0015	0.000194	30	154602	rs761060241	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	6.709e-05	0	0	0	0.0005	8.454e-05	9.935e-05	0.0013	9.198e-05	9.194e-05	2.569e-05	0.0002	0.0017	5.527e-05	4.364e-05	0.0008	0.0006	4.827e-05	0	6.543e-05	0	0	0	0	4.409e-05	0	0.0017	0.0	0.91255	D	0.001	0.92824	D	0.998	0.73220	D	0.987	0.80445	D	.	.	.	.	1	0.81001	D	2.775	0.80997	M	0.79	0.49068	T	-7.53	0.95131	D	0.664	0.67304	-0.2101	0.77412	T	0.339	0.70510	T	9	0.27943584	0.45516	T	0.031331	0.53437	D	0.360	0.68052	0.814	0.92925	0.794422777162	0.79250	0.13680685460401348	0.13604	.	.	.	.	.	0.123924	0.44861	T	-0.320438	0.06862	T	-0.257691	0.49054	T	0.394380861057874	0.28730	T	0.959004	0.86318	D	0.6788195	0.76905	0.739071	0.84577	0.6788195	0.76907	0.739071	0.84578	-10.574	0.77271	D	.	.	0.370	0.59011	A	.;.	.;.	4.156617	0.62392	24.5	0.99710275408573001	0.81283	0.93780	0.59170	D	AEFDBI	0.460954	0.51092	N	0.561410418673282	0.70781	5.551961	0.449031870741221	0.64656	4.725656	0.999995646182114	0.74766	0.65757	0.49021	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604282	0.37693	0	.	.	4.84	3.96	0.45097	3.364000	0.52052	.	.	0.599000	0.40250	0.623000	0.27939	1.000000	0.68203	0.997000	0.79791	0.0:0.856:0.144:0.0	14.924	0.70505	818	0.41518	.;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	2440.43	33	chr5	141431930	.	C	A	2440.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.265;DP=521;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.497;SOR=0.712	GT:AD:DP:GQ:PL	0/1:109,85:194:99:2452,0,3111	9	0	1	0
chr5	150372183	150372200	AGTGAGGAGGGATCTGAA	-	exonic	TCOF1	.	nonframeshift deletion	TCOF1:NM_001008657:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001135243:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001135244:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001195141:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001371623:exon7:c.817_834del:p.G276_E281del	Treacher Collins syndrome 1, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	425627	not_provided|not_specified|Treacher_Collins_syndrome_1|TCOF1-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.000998403	0.0018	0.0003	0.0013	0	0.0014	0.0024	0.0012	0.0018	0.0002305	6	26028	rs528897827	0.0037	0.0038	0.0039	0.0036	0.0045	0.0037	0.0036	0.0044	0.0043	0.0007	0.0015	0.0001	2.519e-05	0.0016	0.0005	0.0045	0.0031	0.0015	0.0026	0.0026	0.0025	0.0026	0.0049	0.0024	0.0023	0.0040	0.0036	0.0008	0.0022	0.0049	0	0	0.0032	0	0.0035	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1346.39	33	chr5	150372182	.	TAGTGAGGAGGGATCTGAA	T	1346.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.652;DP=404;ExcessHet=0;FS=0.828;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.196;SOR=0.569	GT:AD:DP:GQ:PL	0/1:52,36:88:99:1358,0,2059	9	0	1	0
chr5	154917072	154917072	G	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon13:c.C1778G:p.P593R,GEMIN5:NM_015465:exon13:c.C1781G:p.P594R	.	431	1087	4	0	0	4	0.00183655	.	.	.	2825472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.401	0.0795522734574	0.0028	0.000998403	0.0026	0.0012	0.0009	0.0001	0.0014	0.0035	0.0022	0.0029	0.0024385	377	154602	rs142530738	0.0033	0.0033	0.0033	0.0033	0.0037	0.0032	0.0032	0.0036	0.0035	0.0004	0.0011	0.0058	0.0001	0.0018	0.0023	0.0037	0.0031	0.0031	0.0021	0.0021	0.0023	0.0019	0.0029	0.0019	0.0018	0.0026	0.0025	0.0007	0	0.0029	0.0058	0	0.0013	0	0.0029	0.0028	0.0010	0.015	0.52492	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	1.905	0.50856	L	-0.76	0.73417	T	-4.7	0.79829	D	0.492	0.52563	0.086	0.83917	D	0.521	0.82110	D	10	0.013405383	0.00284	T	0.079552	0.73260	D	0.401	0.71479	.	.	0.85813251465	0.85676	0.5380153124538929	0.53726	0.43770971806	0.43814	0.546659111977	0.45386	T	0.170664	0.51849	T	-0.220047	0.17986	T	-0.0912802	0.64065	T	0.0155009347057922	0.00350	T	0.827017	0.49049	T	0.6690375	0.76381	0.32615092	0.58524	0.6690375	0.76382	0.32615092	0.58523	-12.122	0.85440	D	.	.	0.130	0.27791	B	.	.	4.662185	0.74425	26.2	0.99829653782715055	0.91112	0.92897	0.56815	D	AEFDBHCI	0.746158	0.68861	D	0.656795516520746	0.76809	6.555502	0.649985530509611	0.78608	6.910906	0.999999778201974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.08	0.68373	6.229000	0.72245	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.068:0.0:0.932:0.0	15.002	0.71140	873	0.30802	WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	536.43	33	chr5	154917072	.	G	C	536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.129;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/1:22,25:47:99:548,0,472	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|1:309,178:489:99:0|1:157052552_AC_A:6544,0,12347:157052552	1	4	5	0
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W,TRIM7:NM_203293:exon7:c.C1348T:p.R450W,TRIM7:NM_203294:exon7:c.C724T:p.R242W,TRIM7:NM_203295:exon7:c.C724T:p.R242W,TRIM7:NM_203296:exon7:c.C724T:p.R242W	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012208	0.005263	0.006812	0.020588	0.000000	0.017544	0.003067	0.015267	0.1	1812.14	33	chr5	181195354	.	G	A	1812.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.7;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.006;SOR=0.727	GT:AD:DP:GQ:PL	0/1:28,45:73:99:1240,0,746	8	0	2	0
chr6	4032374	4032374	G	A	exonic	PRPF4B	.	nonsynonymous SNV	PRPF4B:NM_003913:exon2:c.G857A:p.R286H	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	0.0018	0.000998403	0.0040	0.0002	0.0003	0.0023	0.0174	0.0049	0.0100	0.0001	0.0033311	515	154602	rs45509297	0.0028	0.0028	0.0027	0.0029	0.0026	0.0028	0.0027	0.0025	0.0025	8.961e-05	0.0003	0.0052	0.0009	0.0165	0.0003	0.0026	0.0022	0.0001	0.0033	0.0033	0.0026	0.0042	0.0040	0.0031	0.0030	0.0036	0.0034	0.0001	0	0.0002	0.0049	0.0023	0.0188	0	0.0040	0.0009	0.0004	0.002	0.72154	D	0.117	0.36365	T	0.988	0.62325	D	0.52	0.48197	P	0.000005	0.62929	D	0.000000	0.999783	0.49076	D	1.59	0.40313	L	-0.44	0.69777	T	-0.97	0.25770	N	0.278	0.31478	-0.6626	0.62161	T	0.216	0.57732	T	10	0.006115675	0.00138	T	.	.	.	0.177	0.44549	.	.	0.587019249841	0.58375	0.0039168402482609044	0.00366	0.881774026821	0.69799	0.524154186249	0.42212	T	0.044904	0.26958	T	-0.2849	0.10154	T	-0.175901	0.56901	T	0.0499941572531356	0.05499	T	0.945505	0.79230	D	0.13211302	0.30773	0.131003	0.31465	0.13211302	0.30773	0.131003	0.31464	-6.57	0.50823	T	.	.	0.158	0.34992	B	.	.	4.024187	0.59457	24.1	0.99930672251191555	0.99334	0.98727	0.86082	D	AEFBI	0.740606	0.68480	D	0.426179049560821	0.62865	4.509797	0.443718479225165	0.64315	4.683828	0.999999999962352	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.313000	0.65584	11.898000	0.99275	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.841000	0.39698	0.0:0.0:1.0:0.0	20.279	0.98503	510	0.75209	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003067	0.000000	0.05	729.43	37	chr6	4032374	.	G	A	729.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.678;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.352;SOR=0.781	GT:AD:DP:GQ:PL	0/1:48,29:77:99:741,0,1243	9	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	131.78	78	chr6	7411419	.	G	C	131.78	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.634;DP=940;ExcessHet=1.5895;FS=160.175;InbreedingCoeff=-0.3345;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.831;SOR=10.2	GT:AD:DP:GQ:PL	0/1:71,31:102:45:45,0,1204	4	0	4	2
chr6	18171430	18171430	A	C	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon7:c.A485C:p.Q162P,KDM1B:NM_153042:exon7:c.A485C:p.Q162P	.	430	1056	32	4	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00648607289885	0.0034	0.00319489	0.0032	0.0005	0.0017	0	0.0002	0.0036	0.0055	0.0069	0.0030465	471	154602	rs149734475	0.0028	0.0028	0.0027	0.0030	0.0085	0.0028	0.0027	0.0069	0.0067	0.0004	0.0016	3.826e-05	0	0.0004	0.0085	0.0028	0.0030	0.0074	0.0021	0.0021	0.0023	0.0019	0.0050	0.0019	0.0019	0.0035	0.0033	0.0003	0	0.0010	0	0.0002	0.0002	0.0136	0.0038	0.0028	0.0050	0.042	0.41637	D	0.087	0.40747	T	.	.	.	.	.	.	0.335157	0.04154	N	1.560660	1	0.81001	D	1.7	0.43825	L	1.48	0.31731	T	-0.76	0.21215	N	0.54	0.56748	-1.0950	0.04752	T	0.041	0.17657	T	10	0.008307725	0.00188	T	0.006486	0.17072	T	0.137	0.36984	.	.	0.312529679308	0.30857	0.751307291187119	0.75077	1.13811683318	0.78839	0.326103448868	0.14345	T	.	.	.	-0.453143	0.01082	T	-0.41968	0.31112	T	0.020574591945722	0.00757	T	0.913209	0.69822	D	.	.	.	.	.	.	.	.	-5.21	0.39043	T	.	.	0.116	0.30686	B	.;.	.;.	3.203952	0.43583	21.8	0.99065892226933139	0.51598	0.78064	0.38461	D	AEFGBI	0.314278	0.41918	N	-0.161843836512971	0.34733	1.986093	-0.0136219713147727	0.39097	2.31317	0.999994216246781	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.42	4.24	0.49486	3.879000	0.55850	7.874000	0.72122	0.691000	0.84096	0.945000	0.32849	1.000000	0.68203	0.993000	0.69303	0.8603:0.1397:0.0:0.0	12.498	0.55282	749	0.51929	Zinc finger, CW-type|Zinc finger, CW-type;.	.	.	.	.	rs149734475	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.006793	0.005848	0.050000	0.000000	0.015244	0.015152	0.05	1037.43	33	chr6	18171430	.	A	C	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.337;DP=398;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.231;SOR=0.714	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1049,0,1263	9	0	1	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del	.	267	1249	4	2	0	8	0.00319234	.	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1249.39	35	chr6	21595020	.	CGGGGGCGGCCAT	C	1249.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.503;DP=406;ExcessHet=0;FS=1.311;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.14;ReadPosRankSum=-1.642;SOR=1	GT:AD:DP:GQ:PL	0/1:21,33:54:99:1261,0,780	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	0/1:42,19:64:99:.:.:129,0,422:.	5	0	5	0
chr6	24596121	24596121	-	GTCC	exonic	KIAA0319	.	frameshift insertion	KIAA0319:NM_001168376:exon2:c.417_418insGGAC:p.W140Gfs*31,KIAA0319:NM_001350404:exon2:c.534_535insGGAC:p.W179Gfs*31,KIAA0319:NM_001350406:exon2:c.417_418insGGAC:p.W140Gfs*31,KIAA0319:NM_001168375:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001168377:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350403:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350405:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350407:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350408:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_014809:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001168374:exon4:c.525_526insGGAC:p.W176Gfs*31,KIAA0319:NM_001350409:exon4:c.96_97insGGAC:p.W33Gfs*31,KIAA0319:NM_001350410:exon4:c.96_97insGGAC:p.W33Gfs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1659.39	33	chr6	24596121	.	A	AGTCC	1659.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=472;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=-1.12;SOR=0.848	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1671,0,1908	9	0	1	0
chr6	26017608	26017608	G	A	exonic	H1-1	.	nonsynonymous SNV	H1-1:NM_005325:exon1:c.C125T:p.S42F	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	0.0004	0.00519169	0.0031	0	0.0011	0.0020	0	0.0005	0	0.0185	0.0027749	429	154602	rs117409123	0.0015	0.0015	0.0010	0.0021	0.0199	0.0015	0.0015	0.0191	0.0188	2.987e-05	0.0011	0.0019	0.0020	1.872e-05	0.0036	0.0002	0.0021	0.0199	0.0011	0.0011	0.0008	0.0015	0.0232	0.0010	0.0009	0.0197	0.0184	0.0001	0	0.0004	0.0009	0.0039	0	0.0034	0.0003	0.0019	0.0232	0.004	0.65419	D	0.023	0.57104	D	0.999	0.77913	D	0.995	0.83170	D	0.005132	0.33071	N	0.303017	0.999696	0.48338	D	3.655	0.94224	H	1.76	0.25996	T	-4.73	0.80085	D	0.63	0.64393	-0.6444	0.62957	T	0.173	0.51548	T	10	0.011164337	0.00245	T	.	.	.	0.246	0.55340	.	.	0.465975295344	0.46225	0.4152561661665899	0.41441	.	.	0.565297365189	0.48014	T	0.436153	0.78264	T	-0.23248	0.16323	T	-0.0924373	0.63978	T	0.0975846548426396	0.12089	T	0.907509	0.67274	D	0.714415	0.78851	0.70422626	0.82566	0.714415	0.78853	0.70422626	0.82567	-11.151	0.80479	D	.	.	0.844	0.79468	P	.	.	3.952823	0.57923	23.9	0.99579891445651514	0.72921	0.52608	0.29172	D	ALL	0.221011	0.34569	N	0.274098392782029	0.54840	3.648676	0.0141882615851617	0.40373	2.408363	0.999999999725645	0.74766	0.378867	0.05890	3	0.587068	0.34093	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.2	4.2	0.48814	2.184000	0.42205	9.227000	0.79333	0.676000	0.76740	0.703000	0.28654	1.000000	0.68203	0.002000	0.04165	0.0:0.294:0.706:0.0	11.914	0.52035	479	0.77495	Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	2118.43	33	chr6	26017608	.	G	A	2118.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.141;DP=514;ExcessHet=0;FS=2.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.275;SOR=0.529	GT:AD:DP:GQ:PL	0/1:97,94:191:99:2130,0,2510	9	0	1	0
chr6	26545291	26545291	T	C	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0388961168683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.008	0.67890	D	0.997	0.70673	D	0.997	0.86255	D	0.000007	0.62929	D	0.000000	0.996416	0.43191	D	.	.	.	.	.	.	-4.53	0.78388	D	0.641	0.65330	-0.3647	0.73123	T	0.323	0.69212	T	8	0.7389529	0.74820	D	0.038896	0.58494	D	0.286	0.60456	0.541	0.65304	0.326275561783	0.32232	0.22689486886573745	0.22604	0.432901375486	0.43465	0.642388820648	0.58903	T	0.532768	0.83861	D	0.152116	0.69465	D	-0.0192721	0.69076	D	0.991724848747253	0.82061	D	0.79582	0.43907	T	0.8983934	0.91239	0.8107355	0.88947	0.8983934	0.91241	0.8107355	0.88947	-10.676	0.77851	D	.	.	0.640	0.70503	P	.	.	4.065148	0.60355	24.2	0.99764135443354984	0.85335	0.75721	0.37089	D	AEFBCI	0.482858	0.52354	N	0.332952614309297	0.57846	3.953785	0.228619213290326	0.51441	3.326618	0.994572453587749	0.33701	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.15	3.15	0.35301	2.141000	0.41792	6.554000	0.55920	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	9.989	0.41032	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1194.43	37	chr6	26545291	.	T	C	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.904;DP=406;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.41;SOR=0.513	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1206,0,1347	9	0	1	0
chr6	26545468	26545468	G	A	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.G262A:p.D88N	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0047	0.0105831	0.0057	0.0143	0.0022	0.0075	0	0.0009	0.0049	0.0312	0.0049999	773	154602	rs34511704	0.0025	0.0026	0.0019	0.0032	0.0262	0.0025	0.0024	0.0253	0.0249	0.0120	0.0025	4.454e-05	0.0043	3.881e-05	0.0070	0.0006	0.0042	0.0262	0.0057	0.0057	0.0053	0.0061	0.0292	0.0054	0.0053	0.0253	0.0238	0.0138	0.0110	0.0032	0	0.0042	0	0.0034	0.0009	0.0052	0.0292	0.023	0.48186	D	0.052	0.47581	T	0.284	0.32165	B	0.218	0.37679	B	0.000005	0.62929	D	0.000000	0.97212	0.25618	N	.	.	.	.	.	.	-3.94	0.73378	D	0.191	0.20925	-1.0059	0.28186	T	0.074	0.29770	T	8	0.0047082305	0.00099	T	.	.	.	0.149	0.39377	.	.	0.229543500084	0.22568	0.12692977292968816	0.12618	0.592345308843	0.54628	0.386521339417	0.23178	T	0.27839	0.65104	T	-0.260621	0.12828	T	-0.612141	0.11812	T	0.0685672644446638	0.08448	T	0.857514	0.54691	D	0.33108982	0.55559	0.31346735	0.57343	0.33108982	0.55559	0.31346735	0.57343	-6.869	0.53070	T	.	.	0.096	0.15475	B	.	.	3.571292	0.50303	22.9	0.99899455706022633	0.97199	0.91555	0.53775	D	AEFBCI	0.364117	0.45278	N	-0.0508662545877477	0.39563	2.335146	-0.0386817125047097	0.37985	2.23153	0.999815831251024	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.83	3.83	0.43287	4.447000	0.59762	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.0:0.0:1.0:0.0	14.028	0.64118	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.020202	0.004076	0.008772	0.000000	0.000000	0.003049	0.007576	0.05	1519.43	38	chr6	26545468	.	G	A	1519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.529;DP=513;ExcessHet=0;FS=2.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.15;SOR=0.87	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1531,0,1927	9	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	438.25	75	chr6	27310582	.	G	A	438.25	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.12;DP=778;ExcessHet=2.8389;FS=220.933;InbreedingCoeff=-0.4801;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.511;SOR=9.641	GT:AD:DP:GQ:PL	0/1:65,29:94:99:173,0,1374	2	0	5	3
chr6	27957298	27957298	C	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.C58G:p.R20G	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0006	0.00998403	0.0054	0.0009	0.0004	0.0093	0	0.0002	0.0044	0.0331	0.004877	754	154602	rs150850606	0.0026	0.0026	0.0016	0.0036	0.0349	0.0025	0.0025	0.0339	0.0335	0.0010	0.0004	0	0.0055	0	0.0036	0.0002	0.0045	0.0349	0.0022	0.0022	0.0013	0.0032	0.0504	0.0020	0.0019	0.0452	0.0432	0.0010	0	6.54e-05	0	0.0064	0	0	0.0002	0.0033	0.0504	0.021	0.49117	D	0.244	0.24123	T	0.353	0.33698	B	0.157	0.34536	B	0.609690	0.10879	U	0.689868	0.999958	0.19072	N	1.43	0.35840	L	5.38	0.01033	T	-4.1	0.74900	D	0.085	0.06190	-0.8977	0.48224	T	0.002	0.00526	T	10	0.0022549927	0.00033	T	.	.	.	0.028	0.06331	.	.	0.275215494804	0.27121	0.3425048101534829	0.34163	0.123300978965	0.13890	0.182806894183	0.00122	T	0.094839	0.39497	T	-0.57761	0.00199	T	-0.580161	0.14530	T	0.019914893059643	0.00692	T	0.0368963	0.00256	T	0.24605127	0.47570	0.25376707	0.51030	0.24605127	0.47570	0.25376707	0.51030	-10.698	0.77976	D	.	.	0.165	0.36475	B	.	.	2.493447	0.32177	18.96	0.9869077426091637	0.44752	0.24863	0.22524	N	AEFGBI	0.115878	0.22766	N	-0.456082648638188	0.23534	1.264502	-0.473239551149825	0.22894	1.245783	0.0726778210527276	0.15609	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.93	3.05	0.34272	-0.511000	0.06404	-4.993000	0.01895	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.2007:0.6919:0.0:0.1074	5.479	0.16004	481	0.77356	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2259.43	35	chr6	27957298	.	C	G	2259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=469;ExcessHet=0;FS=2.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.202;SOR=0.996	GT:AD:DP:GQ:PL	0/1:74,82:156:99:2271,0,1830	9	0	1	0
chr6	29673620	29673620	C	T	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G275A:p.R92Q,ZFP57:NM_001109809:exon5:c.G491A:p.R164Q	Diabetes mellitus, transient neonatal, 1	0	1503	19	0	0	19	0.00628099	.	.	.	299746	not_provided|Monogenic_diabetes|Diabetes_mellitus,_transient_neonatal,_1|Transitory_neonatal_diabetes_mellitus	MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0011	0.0139776	0.0068	0.0039	0.0018	0.0106	0	0.0003	0.0047	0.0378	0.0059702	923	154602	rs200541066	0.0032	0.0032	0.0021	0.0043	0.0398	0.0031	0.0031	0.0387	0.0382	0.0049	0.0021	3.832e-05	0.0062	3.825e-05	0.0049	0.0003	0.0061	0.0398	0.0037	0.0037	0.0028	0.0047	0.0599	0.0034	0.0033	0.0542	0.0520	0.0040	0	0.0026	0	0.0060	0	0.0034	0.0004	0.0033	0.0599	0.366	0.11696	T	0.716	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.620697	0.10781	N	0.753424	1	0.08975	N	.	.	.	3.5	0.05014	T	0.22	0.07444	N	0.034	0.01068	-0.9143	0.46311	T	0.002	0.00738	T	10	0.0022684336	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0846915920261	0.08053	0.07343996282041032	0.07280	0.484552586258	0.47362	0.288189262152	0.08659	T	0.033722	0.23030	T	-0.777633	0.00011	T	-0.86403	0.00801	T	0.00256213137071298	0.00027	T	0.580242	0.20999	T	0.02677811	0.01780	0.044516083	0.05784	0.03501257	0.04041	0.045016915	0.05964	-3.44	0.15683	T	.	.	0.109	0.26514	B	.;.;.	.;.;.	0.104313	0.05051	1.595	0.67320172402372191	0.08319	0.02443	0.06880	N	AEFBI	0.116802	0.22908	N	-2.34229440237499	0.00036	0.001566646	-2.35604353455089	0.00050	0.002183283	0.978084408889132	0.29885	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.36	-3.73	0.04112	0.248000	0.17971	.	.	-1.957000	0.00479	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.0874:0.3646:0.1792:0.3687	3.284	0.06518	856	0.34373	.;.;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	1	0	0.008715	0.000000	0.005435	0.010638	0.000000	0.000000	0.000000	0.034091	0.05	1114.43	33	chr6	29673620	.	C	T	1114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.174;DP=419;ExcessHet=0;FS=3.853;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.67;SOR=1.132	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1126,0,1136	9	0	1	0
chr6	30340549	30340549	A	G	exonic	TRIM39;TRIM39-RPP21	.	nonsynonymous SNV	TRIM39-RPP21:NM_001199119:exon5:c.A848G:p.E283G,TRIM39:NM_001369521:exon7:c.A848G:p.E283G,TRIM39:NM_001369522:exon7:c.A848G:p.E283G,TRIM39:NM_172016:exon7:c.A848G:p.E283G,TRIM39:NM_001369523:exon8:c.A848G:p.E283G,TRIM39:NM_021253:exon8:c.A938G:p.E313G	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0006	0.0115815	0.0065	0.0020	0.0005	0.0106	0	0.0003	0.0046	0.0380	0.0056274	870	154602	rs61758102	0.0030	0.0030	0.0018	0.0042	0.0407	0.0029	0.0029	0.0396	0.0391	0.0015	0.0006	0.0004	0.0060	0	0.0036	0.0002	0.0054	0.0407	0.0025	0.0025	0.0016	0.0036	0.0590	0.0023	0.0022	0.0534	0.0512	0.0010	0	0.0001	0.0006	0.0060	0	0	0.0003	0.0014	0.0590	0.031	0.45039	D	0.28	0.37173	T	0.373	0.34173	B	0.179	0.35808	B	0.006413	0.32054	N	0.260847	0.962912	0.38318	D	1.1	0.28011	L	0.0	0.62608	T	-3.28	0.68764	D	0.136	0.28732	-0.8770	0.49997	T	0.135	0.44875	T	10	0.0029112995	0.00047	T	.	.	.	0.058	0.16647	.	.	0.259504319725	0.25562	0.6511736240182044	0.65053	0.137210899291	0.15472	.	.	.	0.097204	0.39979	T	-0.359508	0.04157	T	-0.263422	0.48482	T	0.0260405041037394	0.01412	T	.	.	.	0.0684415	0.14910	0.121030994	0.29205	0.0684415	0.14910	0.121030994	0.29204	-5.635	0.48197	T	.	.	0.219	0.57775	B	.;.;.;.;.;.	.;.;.;.;.;.	3.711685	0.52989	23.3	0.99889453305637876	0.96359	0.83468	0.42583	D	AEFBHCI	0.456240	0.50819	N	0.149963396011878	0.48810	3.088757	0.311801805080077	0.56232	3.786317	0.999999999360383	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.015000	0.49286	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.214	0.59270	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005447	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.030303	0.05	934.43	34	chr6	30340549	.	A	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.225;DP=391;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.588;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,38:75:99:946,0,878	9	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6052.9	520	chr6	31026275	.	A	*	6052.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.832;DP=4129;ExcessHet=0.0405;FS=2.444;InbreedingCoeff=0.375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=5.13;ReadPosRankSum=0.308;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,262:262:99:1|1:31026245_ACCACAGGCT_A:11776,789,0:31026245	8	1	1	0
chr6	31029723	31029723	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4292_4293insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST,MUC22:NM_001318484:exon3:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1463_S1464insAGSETTTASTAGSETTTAST,MUC22:NM_001322469:exon4:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.S1474_G1777delinsAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0039	0.0019	0.0019	0.0048	0.0018	0.0018	0.0035	0.0033	0.0009	0.0031	0.0051	0.0041	0.0091	0.0048	0.0016	0.0028	0.0011	0.0002	0.0025	0.0002	0.0001	0.0009	0.0001	8.245e-05	0.0002	6.649e-05	0	0	0.0001	0.0006	0.0003	0.0005	0	0.0002	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	7344.32	591	chr6	31029723	.	A	AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	7344.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.739;DP=5741;ExcessHet=0.2348;FS=3.207;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.47;MQRankSum=-0.522;QD=10.93;ReadPosRankSum=-8.751;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,158:190:99:.:.:4653,0,769:.	8	0	1	1
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG,MUC22:NM_001318484:exon3:c.4389_4390insGCAGGC:p.T1463_S1464insAG,MUC22:NM_001322469:exon4:c.4389_4390insGCAGGC:p.S1466_G1777delinsAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	17752.2	624	chr6	31029811	.	T	TGCAGGC	17752.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.743;DP=6298;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.33;MQRankSum=3.96;QD=9.61;ReadPosRankSum=-2.884;SOR=0.707	GT:AD:DP:GQ:PL	0/1:304,813:1117:99:17763,0,5917	8	0	1	1
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA,MUC22:NM_001318484:exon3:c.4390_4391insCTGAGACCACCACAGCCTCCACTG:p.S1464_G1465insETTTASTA,MUC22:NM_001322469:exon4:c.4390_4391insCTGAGACCACCACAGCCTCCACTG:p.G1465_G1777delinsETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	20470.0	624	chr6	31029812	.	T	TCTGAGACCACCACAGCCTCCACTG	20470.0	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2;DP=6472;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.063;MQ=59.47;MQRankSum=3.98;QD=7.35;ReadPosRankSum=1.98;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:303,813:1117:99:.:.:17764,0,5894:.	7	0	1	2
chr6	31116313	31116313	G	T	exonic	CDSN	.	nonsynonymous SNV	CDSN:NM_001264:exon2:c.C1302A:p.S434R	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	710398	not_provided|CDSN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0011	0.000998403	0.0028	9.747e-05	0.0011	0	0.0223	0.0027	0.0034	0.0002	0.002445	378	154602	rs150846158	0.0022	0.0022	0.0022	0.0022	0.0020	0.0021	0.0021	0.0017	0.0017	0.0002	0.0020	3.829e-05	0	0.0173	0.0012	0.0018	0.0018	0.0006	0.0030	0.0030	0.0023	0.0037	0.0024	0.0027	0.0027	0.0021	0.0020	0.0003	0.0011	0.0018	0	0.0002	0.0229	0	0.0024	0.0005	0.0002	0.005	0.63226	D	0.011	0.64786	D	.	.	.	.	.	.	0.292282	0.14746	N	0.573438	1	0.81001	D	.	.	.	3.18	0.07478	T	-3.46	0.67705	D	0.334	0.37509	-0.9901	0.32576	T	0.011	0.04369	T	10	0.0070687234	0.00161	T	.	.	.	0.107	0.30369	0.326	0.30873	0.280181792013	0.27631	0.2104646889606678	0.20962	0.687456490586	0.60386	0.341345727444	0.16640	T	0.081672	0.36652	T	-0.477192	0.00768	T	-0.462221	0.26357	T	0.0607472863872461	0.07285	T	0.731927	0.34732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.65158	A	.	.	3.396617	0.47056	22.4	0.99714549867426672	0.81563	0.57276	0.30334	D	AEFDBI	0.126843	0.24395	N	0.0610725092561053	0.44653	2.735463	0.0182607160661245	0.40562	2.422795	0.999951877079739	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.09	1.28	0.20656	0.673000	0.24883	.	.	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.3559:0.0:0.6441:0.0	5.630	0.16782	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	1	0	0	1	0	1	0	0.000533	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	1828.43	83	chr6	31116313	.	G	T	1828.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.888;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.555;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,50:119:99:0|1:31116298_G_C:1840,0,2618:31116298	9	0	1	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.1	1502.14	157	chr6	31271120	.	C	G	1502.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.65;DP=1431;ExcessHet=0.2348;FS=1.572;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=52.39;MQRankSum=-0.146;QD=5.4;ReadPosRankSum=2.86;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,53:174:99:.:.:860,0,3051:.	8	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	17174.2	173	chr6	31271153	.	A	*	17174.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.37;DP=1625;ExcessHet=2.4664;FS=1.091;InbreedingCoeff=-0.2;MLEAC=2;MLEAF=0.1;MQ=51.68;MQRankSum=-0.192;QD=13.25;ReadPosRankSum=-1.535;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,60:179:99:.:.:7487,4956,4843:.	8	0	2	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.2	1482.57	199	chr6	31355338	.	T	C	1482.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.315;DP=1447;ExcessHet=1.5895;FS=10.624;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.63;MQRankSum=-10.92;QD=2.32;ReadPosRankSum=-0.008;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,15:170:99:0|1:31355338_T_C:163,0,6305:31355338	6	0	4	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,26:190:99:0|1:31355425_T_C:580,0,6572:31355425	3	0	7	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13397.7	47	chr6	31356247	.	C	*	13397.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.58;DP=1059;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.2493;MLEAC=3;MLEAF=0.15;MQ=50.89;MQRankSum=-3.36;QD=14.28;ReadPosRankSum=-1.328;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,31:33:54:.:.:1350,54,0:.	8	1	1	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7390.36	18	chr6	31356717	.	AGGT	*	7390.36	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=449;ExcessHet=1.4371;FS=10.967;InbreedingCoeff=-0.0989;MLEAC=2;MLEAF=0.1;MQ=55.4;MQRankSum=-5.386;QD=17.89;ReadPosRankSum=-1.751;SOR=1.461	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42:42:99:1|1:31356711_C_CGG:1890,126,0:31356711	9	1	0	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53:53:99:1|1:31356711_C_CGG:2385,160,0:31356711	3	5	2	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2756.94	78	chr6	31412383	.	TG	*	2756.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.105;DP=609;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,72:72:99:.:.:3197,217,0:.	8	1	1	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	13877.4	79	chr6	31412384	.	G	*	13877.4	.	AC=6;AF=0.3;AN=20;DP=615;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=27.7;SOR=1.633	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,72:72:99:.:.:3197,217,0:.	5	1	4	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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|1:71,29:100:99:0|1:31625601_T_C:649,0,2392:31625601	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|1:71,29:100:99:0|1:31625601_T_C:649,0,2392:31625601	0	0	10	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S,TNXB:NM_001365276:exon36:c.G11539A:p.G3847S,TNXB:NM_019105:exon36:c.G11533A:p.G3845S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	46	1439	32	5	0	42	0.0143836	.	.	.	1683144	See_cases|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020742	0.010204	0.012228	0.042553	0.000000	0.017241	0.030675	0.026515	0.1	322.34	14	chr6	32043548	.	C	T	322.34	.	AC=2;AF=0.1;AN=20;DP=92;ExcessHet=0;FS=0;InbreedingCoeff=0.9079;MLEAC=2;MLEAF=0.1;MQ=40;QD=27.08;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,8:8:24:345,24,0	9	1	0	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N	.	421	1020	78	3	0	84	0.039548	.	.	.	3500764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	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	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	Likely benign	0	0	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	0.051198	0.025253	0.065217	0.031915	0.100000	0.094828	0.070122	0.034091	0.1	5601.12	34	chr6	32405014	.	C	T	5601.12	.	AC=2;AF=0.1;AN=20;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.19;SOR=0.788	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5624,522,0	9	1	0	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14871.3	264	chr6	32521981	.	T	*	14871.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.364;DP=1956;ExcessHet=5.1594;FS=8.865;InbreedingCoeff=-0.4141;MLEAC=4;MLEAF=0.2;MQ=52.74;MQRankSum=-4.675;QD=7.98;ReadPosRankSum=-3.763;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,19:41:99:0|1:32521930_A_C:633,0,867:32521930	6	0	4	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	45	1469	6	2	0	10	0.00339213	0.9999	0.734	YES	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.05556	1325.05	198	chr6	32580272	.	T	C	1325.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.34;DP=1138;ExcessHet=0;FS=3.223;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=39.74;MQRankSum=0.203;QD=27.61;ReadPosRankSum=2.01;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,33:48:99:0|1:32580272_T_C:1336,0,531:32580272	8	0	1	1
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	13132.2	287	chr6	32581836	.	G	A	13132.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.499;DP=3426;ExcessHet=0.7463;FS=1.28;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=56.65;MQRankSum=-9.658;QD=9.75;ReadPosRankSum=1.18;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:664,145:809:99:.:.:4090,0,27445:.	9	0	1	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	26398.6	196	chr6	32584177	.	CG	*	26398.6	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1758;ExcessHet=0.0657;FS=0.744;InbreedingCoeff=0.3939;MLEAC=3;MLEAF=0.15;MQ=51.98;MQRankSum=3.87;QD=25.38;ReadPosRankSum=2.53;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,64:74:99:0|1:32584151_G_A:2657,0,227:32584151	7	0	3	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,64:74:99:0|1:32584151_G_A:2657,0,227:32584151	4	3	3	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1	3008.14	164	chr6	32589684	.	A	G	3008.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.962;DP=1899;ExcessHet=0.2348;FS=0.674;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=48.1;MQRankSum=-0.036;QD=5.54;ReadPosRankSum=1.15;SOR=0.828	GT:AD:DP:GQ:PL	0/1:267,67:334:99:1989,0,10989	8	0	2	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	7853.28	315	chr6	32641522	.	A	G	7853.28	.	AC=3;AF=0.15;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=3;MLEAF=0.15;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,137:137:99:.:.:4080,411,0:.	8	1	1	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	24716.5	74	chr6	32666525	.	A	*	24716.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.75;DP=862;ExcessHet=0.2348;FS=0.765;InbreedingCoeff=-0.1111;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=28.91;ReadPosRankSum=0.933;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,90:90:99:1|1:32666522_A_ACC:4002,271,0:32666522	7	1	2	0
chr6	36225308	36225308	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3223A:p.E1075K	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	.	0.0083	0.00559105	0.0083	0.0012	0.0049	0	0.0091	0.0105	0.0112	0.0103	0.0082987	1283	154602	rs142171063	0.0094	0.0094	0.0091	0.0097	0.0135	0.0092	0.0092	0.0111	0.0102	0.0020	0.0055	0.0052	0.0002	0.0081	0.0135	0.0102	0.0091	0.0093	0.0075	0.0075	0.0074	0.0076	0.0120	0.0071	0.0070	0.0113	0.0110	0.0014	0.0022	0.0078	0.0052	0.0002	0.0064	0.0170	0.0120	0.0081	0.0074	0.005	0.63226	D	0.086	0.43721	T	0.912	0.50421	P	0.498	0.47596	P	0.000089	0.51296	D	0.129355	0.99986	0.81001	D	1.765	0.45800	L	-0.52	0.70717	T	-2.66	0.58248	D	0.903	0.90363	-0.4452	0.70559	T	0.413	0.76048	T	10	0.013104111	0.00279	T	.	.	.	0.442	0.74518	.	.	0.774720261517	0.77264	0.8641290524401819	0.86376	0.567022438611	0.52971	0.75238609314	0.74798	T	0.162972	0.50785	T	-0.129283	0.31612	T	0.0519048	0.73710	D	0.0249159672370973	0.01261	T	0.935306	0.81731	D	0.64164495	0.74919	0.53257245	0.72991	0.64164495	0.74920	0.53257245	0.72991	-8.051	0.61417	D	.	.	0.266	0.50054	B	.;.;.	.;.;.	5.149429	0.86240	28.8	0.99543335025107649	0.70648	0.86249	0.45493	D	AEFDGBHCI	0.883812	0.81302	D	0.734200740686734	0.81876	7.625519	0.765997048586827	0.87348	9.190829	1.0	0.98316	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	6.04	0.98025	5.697000	0.67954	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1337:0.8663:0.0	15.993	0.80014	567	0.70732	PWWP domain|PWWP domain|BR140-related, PWWD 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	0.017120	0.005051	0.016304	0.002924	0.000000	0.017241	0.039634	0.011364	0.05	1362.43	36	chr6	36225308	.	G	A	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.281;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.932;SOR=0.703	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1374,0,1398	9	0	1	0
chr6	41034129	41034129	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon3:c.C438A:p.D146E	.	408	1089	23	2	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0065	0.00499201	0.0086	0.0022	0.0040	0.0018	0.0055	0.0109	0.0104	0.0114	0.0081629	1262	154602	rs147669667	0.0096	0.0096	0.0094	0.0098	0.0120	0.0095	0.0094	0.0112	0.0110	0.0011	0.0054	0.0030	0.0020	0.0049	0.0120	0.0105	0.0090	0.0118	0.0067	0.0067	0.0067	0.0067	0.0112	0.0063	0.0062	0.0094	0.0091	0.0015	0.0219	0.0064	0.0043	0.0019	0.0048	0.0068	0.0100	0.0128	0.0112	0.28	0.15509	T	0.165	0.30926	T	0.756	0.43409	P	0.678	0.53406	P	0.000043	0.53742	D	0.000000	0.80733	0.29043	N	1.32	0.33002	L	1.05	0.39990	T	-0.68	0.19509	N	0.624	0.63883	-1.0917	0.05254	T	0.065	0.26702	T	10	0.010130048	0.00227	T	.	.	.	0.105	0.29889	0.448	0.50793	0.444505407614	0.44072	0.32841712452372535	0.32754	0.55956992757	0.52493	0.606204330921	0.53781	T	0.009612	0.08738	T	-0.43467	0.01390	T	-0.386762	0.34931	T	0.049045115221159	0.05331	T	0.69513	0.30474	T	0.14271234	0.32830	0.1266743	0.30504	0.14271234	0.32830	0.1266743	0.30503	-6.381	0.49361	T	.	.	0.646	0.74223	P	.;.	.;.	2.804785	0.36903	20.4	0.99652718392113959	0.77380	0.75210	0.36814	D	AEFDBI	0.343576	0.43934	N	0.117645046854027	0.47287	2.956471	0.146321850026763	0.46946	2.932529	0.999932144858726	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.91	0.44383	1.751000	0.37967	2.856000	0.35172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0996:0.0:0.9004:0.0	9.162	0.36191	454	0.79125	ZU5 domain|ZU5 domain|ZU5 domain;ZU5 domain|ZU5 domain|ZU5 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	0.009577	0.005102	0.012228	0.008772	0.000000	0.017241	0.015244	0.000000	0.05	1709.43	43	chr6	41034129	.	G	T	1709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.861;DP=441;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.231;SOR=0.715	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1721,0,1257	9	0	1	0
chr6	42745487	42745487	T	C	exonic	TBCC	.	nonsynonymous SNV	TBCC:NM_003192:exon1:c.A587G:p.K196R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0230696324998	.	.	9.312e-06	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs747041669	1.37e-06	1.368e-06	1.362e-06	1.377e-06	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	2.258e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.04081	T	0.287	0.21210	T	0.012	0.16265	B	0.062	0.26930	B	0.001123	0.40136	N	0.268180	0.939648	0.37268	D	2.47	0.71715	M	-1.0	0.76037	T	-0.78	0.21644	N	0.168	0.17828	-0.9692	0.37366	T	0.135	0.44875	T	10	0.07663259	0.11996	T	0.02307	0.46009	T	0.142	0.37995	0.372	0.38340	0.537262924806	0.53376	0.6791546308973043	0.67854	.	.	0.402836292982	0.25464	T	0.017635	0.14352	T	-0.276615	0.11030	T	-0.452347	0.27436	T	0.0817720362510145	0.10213	T	0.70163	0.31127	T	0.11132611	0.26309	0.12608822	0.30372	0.11132611	0.26309	0.12608822	0.30371	-3.337	0.14219	T	.	.	0.118	0.24054	B	.	.	2.582406	0.33487	19.35	0.91494635040747962	0.20768	0.78062	0.38459	D	ALL	0.376261	0.46047	N	-0.38408761096165	0.26036	1.417872	-0.245952724110293	0.29911	1.679674	0.999999998875378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	2.45	0.28953	1.776000	0.38223	2.729000	0.34373	0.609000	0.47794	0.997000	0.40164	0.999000	0.35428	0.970000	0.54328	0.454:0.0:0.0:0.546	9.665	0.39143	575	0.70088	Tubulin binding cofactor C-like domain|C-CAP/cofactor C-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	1028.43	34	chr6	42745487	.	T	C	1028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.595;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.23;SOR=0.739	GT:AD:DP:GQ:PL	0/1:35,36:71:99:1040,0,992	9	0	1	0
chr6	43553416	43553416	A	G	exonic	XPO5	.	nonsynonymous SNV	XPO5:NM_020750:exon14:c.T1529C:p.L510S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.00614673704469	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs918045040	4.817e-06	5.473e-06	5.47e-06	4.156e-06	5.416e-06	2e-06	1.29e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.416e-06	1.663e-05	0	2.629e-05	2.627e-05	3.855e-05	1.345e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.049	0.39820	D	0.205	0.27145	T	0.0	0.02946	B	0.001	0.04355	B	0.014884	0.28400	N	0.374411	0.620042	0.30788	N	0.695	0.17993	N	-0.59	0.71543	T	-3.76	0.71276	D	0.357	0.39861	-1.0509	0.14147	T	0.086	0.33578	T	10	0.24167225	0.41349	T	0.006147	0.16111	T	0.246	0.55340	0.551	0.66716	0.318725805183	0.31479	0.5481017413941294	0.54736	0.527734072401	0.50377	0.400847673416	0.25187	T	0.365502	0.73091	T	-0.0343083	0.46788	T	-0.287058	0.46078	T	0.40423721075058	0.29101	T	0.638236	0.25169	T	0.35169512	0.57198	0.24354513	0.49800	0.35169512	0.57198	0.24354513	0.49799	-10.685	0.77902	D	.	.	0.162	0.35767	B	.	.	3.207423	0.43650	21.8	0.9933972776342973	0.60131	0.88373	0.48271	D	AEFBI	0.176315	0.30352	N	-0.140480786579472	0.35641	2.049767	0.057691036119573	0.42444	2.567377	0.552085577578993	0.21342	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.44	0.53164	2.729000	0.46998	9.237000	0.79396	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.6405:0.2149:0.1446:0.0	4.108	0.09518	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1064.43	34	chr6	43553416	.	A	G	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.914;DP=442;ExcessHet=0;FS=2.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-1.247;SOR=0.578	GT:AD:DP:GQ:PL	0/1:79,53:132:99:1076,0,1999	9	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:91,48:139:99:159,0,1499	1	0	6	3
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	568.29	157	chr6	52403967	.	A	G	568.29	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.479;DP=1388;ExcessHet=0.7463;FS=107.752;InbreedingCoeff=-0.2121;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.31;SOR=8.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:205,31:236:49:.:.:49,0,5075:.	6	0	3	1
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.1	3423.14	34	chr6	56640283	.	G	C	3423.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.752;DP=572;ExcessHet=0.2348;FS=1.971;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=2.04;SOR=0.819	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1721,0,1745	8	0	2	0
chr6	57054057	57054057	A	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.A1477G:p.I493V,KIAA1586:NM_001286275:exon4:c.A1357G:p.I453V,KIAA1586:NM_001286276:exon4:c.A1357G:p.I453V,KIAA1586:NM_020931:exon4:c.A1558G:p.I520V	.	434	1086	2	0	0	2	0.000919963	.	.	.	2359511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00167628844764	0.0002	.	0.0001	0.0001	0	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs147271286	6.925e-05	6.978e-05	6.959e-05	6.891e-05	0.0043	5.793e-05	5.404e-05	0.0030	0.0026	0.0005	4.511e-05	0	0	0	0.0043	3.604e-05	0.0002	6.992e-05	3.287e-05	3.283e-05	5.14e-05	1.346e-05	5.885e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.885e-05	0.0005	0	0.205	0.20230	T	0.35	0.23638	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999988	0.18198	N	0.695	0.17993	N	2.02	0.21119	T	-0.28	0.11547	N	0.227	0.25499	-0.9079	0.47109	T	0.007	0.02598	T	9	0.054757535	0.05881	T	0.001676	0.02753	T	0.019	0.03383	.	.	0.0551355673512	0.04727	0.02415413279898782	0.02366	0.030042904158	0.03099	0.56442296505	0.47891	T	0.012204	0.10769	T	-0.447951	0.01161	T	-0.689544	0.06415	T	0.0354195467243455	0.02880	T	0.555444	0.19245	T	0.050615285	0.09171	0.0693522	0.14601	0.050615285	0.09171	0.0693522	0.14601	-4.039	0.24385	T	.	.	0.069	0.03811	B	.;.	.;.	1.368456	0.17782	13.37	0.79567598744896406	0.12800	0.73597	0.35999	D	AEFBCI	0.070436	0.13982	N	-0.760185516113316	0.14358	0.7145654	-0.60024960902381	0.19486	1.045725	0.101579239144028	0.16383	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.85	1.41	0.21461	2.957000	0.48830	0.761000	0.21315	0.665000	0.62972	0.766000	0.29311	0.000000	0.08366	0.998000	0.85391	0.7673:0.0:0.2327:0.0	5.627	0.16769	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	626.43	34	chr6	57054057	.	A	G	626.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=417;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.08;ReadPosRankSum=1.78;SOR=0.794	GT:AD:DP:GQ:PL	0/1:71,32:103:99:638,0,1715	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	0/1:66,88:154:99:2415,0,1546	8	0	2	0
chr6	87341239	87341239	C	T	exonic	SMIM8	.	nonsynonymous SNV	SMIM8:NM_001287445:exon3:c.C149T:p.S50F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000480547746474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs371533520	2.031e-05	7.952e-06	8.234e-06	3.206e-05	1.899e-05	7.94e-06	4.32e-06	5.05e-06	2.4e-06	0	0	0.0002	0	0	0	1.899e-05	0	0	3.956e-05	3.946e-05	3.864e-05	4.053e-05	5.888e-05	1.72e-05	1.133e-05	1.974e-05	1.126e-05	0	0	0	0.0006	0	0	0	5.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.062897205	0.08113	T	4.81E-4	0.00133	T	.	.	.	.	0.0401082797425	0.02173	.	.	.	.	.	.	.	0.015622	0.13069	T	-0.466168	0.00899	T	-0.907394	0.00452	T	.	.	.	0.348865	0.07732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45762	B	.	.	0.407018	0.07781	4.468	0.60750775516981637	0.06539	0.00435	0.02127	N	AEFDBHCI	0.023184	0.01257	N	.	.	.	.	.	.	0.00717249068661772	0.11402	0.106106	0.02776	0	0.067934	0.01796	0	0.125526	0.03468	0	0.041654	0.00081	2	.	.	0.69	-1.38	0.08554	-1.401000	0.02608	.	.	-0.365000	0.05478	0.000000	0.06391	.	.	0.318000	0.24924	.	.	.	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	654.43	37	chr6	87341239	.	C	T	654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.47;DP=415;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.306;SOR=1.101	GT:AD:DP:GQ:PL	0/1:36,27:63:99:666,0,784	9	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	619.04	57	chr6	87418396	.	G	C	619.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.755;DP=604;ExcessHet=1.5895;FS=224.048;InbreedingCoeff=-0.2907;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.865;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,24:69:47:.:.:47,0,598:.	5	0	4	1
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G,CRYBG1:NM_001371242:exon4:c.A2600G:p.E867G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	205.43	37	chr6	106519808	.	A	G	205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.628;DP=660;ExcessHet=0;FS=229.984;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=0.89;SOR=8.608	GT:AD:DP:GQ:PL	0/1:105,46:151:99:217,0,2439	9	0	1	0
chr6	106521329	106521329	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A2897G:p.E966G,CRYBG1:NM_001371242:exon4:c.A4121G:p.E1374G	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	7.7e-05	0.00479233	0.0036	0.0003	0.0003	0	0	4.501e-05	0.0022	0.0255	0.0030207	467	154602	rs201797268	0.0014	0.0014	0.0008	0.0021	0.0229	0.0014	0.0014	0.0220	0.0217	0.0002	6.711e-05	0	5.038e-05	0	0.0017	2.608e-05	0.0015	0.0229	0.0008	0.0008	0.0004	0.0012	0.0232	0.0007	0.0006	0.0197	0.0184	0.0002	0	0	0	0	0	0	4.411e-05	0	0.0232	0.034	0.44029	D	0.045	0.49390	D	0.998	0.73220	D	0.878	0.62312	P	0.501860	0.05096	N	1.239110	0.659091	0.30465	N	.	.	.	-0.8	0.73845	T	-1.62	0.38924	N	0.225	0.25253	-0.4352	0.70890	T	0.494	0.80830	T	10	0.0041195154	0.00081	T	.	.	.	0.323	0.64522	.	.	0.876007074002	0.87480	0.38657576976020197	0.38572	0.101216265927	0.11446	0.394491821527	0.24300	T	0.017161	0.14051	T	-0.253455	0.13678	T	-0.118593	0.61918	T	0.020368446620459	0.00737	T	0.570043	0.20293	T	0.07832549	0.17829	0.07597949	0.16782	0.07832549	0.17828	0.07597949	0.16782	-3.917	0.22557	T	.	.	0.097	0.15609	B	.;.	.;.	2.192876	0.27962	17.64	0.99762023113990628	0.85172	0.44345	0.27298	N	ALL	0.103433	0.20723	N	0.317689826139538	0.57057	3.871678	0.205870227503103	0.50173	3.212148	0.999999999999261	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	1.726000	0.37706	4.663000	0.44246	-0.041000	0.17446	0.772000	0.29380	0.999000	0.35428	0.187000	0.21511	1.0:0.0:0.0:0.0	12.707	0.56435	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1740.43	37	chr6	106521329	.	A	G	1740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.405;DP=519;ExcessHet=0;FS=2.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.55;SOR=0.827	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1752,0,2169	9	0	1	0
chr6	118816260	118816260	G	A	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378366:exon11:c.C1724T:p.T575M,MCM9:NM_001378360:exon12:c.C1850T:p.T617M,MCM9:NM_001378364:exon12:c.C1792T:p.R598W,MCM9:NM_001378356:exon13:c.C1996T:p.R666W,MCM9:NM_001378359:exon13:c.C1850T:p.T617M,MCM9:NM_001378357:exon14:c.C1996T:p.R666W,MCM9:NM_001378367:exon14:c.C1652T:p.T551M,MCM9:NM_017696:exon14:c.C1996T:p.R666W	Ovarian dysgenesis 4, Autosomal recessive	430	1082	10	0	0	10	0.00459982	.	.	.	3398002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	.	.	0.00339457	0.0049	0.0034	0.0077	0.0021	0.0062	0.0063	0.0109	0.0035	0.0015977	247	154602	rs75607191	0.0080	0.0077	0.0082	0.0079	0.0093	0.0079	0.0079	0.0091	0.0091	0.0026	0.0029	0.0022	0.0017	0.0049	0.0016	0.0093	0.0074	0.0031	0.0057	0.0057	0.0059	0.0054	0.0086	0.0054	0.0052	0.0080	0.0078	0.0027	0	0.0035	0.0037	0.0039	0.0055	0	0.0086	0.0052	0.0033	0.035	0.43708	D	0.023	0.57104	D	0.001	0.07471	B	0.0	0.01387	B	0.666421	0.10381	N	0.853391	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.84	0.22944	N	0.053	0.02462	-0.9581	0.39534	T	0.013	0.04843	T	10	0.004149258	0.00082	T	.	.	.	0.099	0.28413	.	.	0.320256813643	0.31633	0.30725911437981607	0.30638	0.123927475785	0.13947	0.179488107562	0.00089	T	0.077157	0.35589	T	-0.539637	0.00336	T	-0.538533	0.18440	T	0.0126444460694241	0.00212	T	0.581942	0.21082	T	0.040088743	0.05657	0.03386222	0.02353	0.04614843	0.07674	0.03386222	0.02353	-6.545	0.50633	T	.	.	0.079	0.10304	B	.;.	.;.	1.392080	0.18050	13.52	0.81215365544448126	0.13576	0.07522	0.13536	N	AEFBI	0.105012	0.20994	N	-0.728929134106233	0.15211	0.7646582	-0.808616265274746	0.14286	0.7457212	0.0705744822745053	0.15533	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	-0.273	0.12276	0.074000	0.14525	0.082000	0.14403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0738:0.3051:0.2439:0.3773	3.743	0.08063	457	0.78953	.;.	.	.	.	.	rs75607191	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	0.001340	0.000000	0.000000	0.005952	0.000000	0.000000	0.000000	0.000000	0.05	1012.43	42	chr6	118816260	.	G	A	1012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=3.05;SOR=0.607	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1024,0,824	9	0	1	0
chr6	129315940	129315940	A	C	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon26:c.A3914C:p.E1305A,LAMA2:NM_001079823:exon26:c.A3914C:p.E1305A	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0203989777683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.07619	T	.	.	.	0.991	0.64070	D	0.903	0.64103	P	0.000000	0.84330	D	0.052414	0.999987	0.54805	D	1.975	0.53506	M	1.28	0.35960	T	-1.7	0.40468	N	0.522	0.61511	-1.0727	0.08830	T	0.091	0.34765	T	10	0.4822521	0.60501	T	0.020399	0.42987	T	0.250	0.55888	0.624	0.75916	0.591496729656	0.58826	0.5642072691617266	0.56347	0.408498947633	0.41690	0.572437286377	0.49023	T	0.027508	0.34472	T	-0.0411517	0.45778	T	-0.296888	0.45053	T	0.958801805973053	0.65367	D	0.931007	0.74365	D	0.77534455	0.82369	0.6995639	0.82301	0.77534455	0.82371	0.6995639	0.82302	-5.356	0.40494	T	0.4703109063851091	0.55089	0.136	0.29615	B	.;.;.	.;.;.	4.668467	0.74591	26.2	0.97670078092111579	0.35247	0.99040	0.90348	D	AEFBI	0.863447	0.78199	D	0.579507800537866	0.71896	5.721228	0.61645052462553	0.76134	6.435381	0.999918774594531	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	8.863000	0.91893	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.718	0.77447	836	0.38045	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	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	2107.43	33	chr6	129315940	.	A	C	2107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.713;DP=450;ExcessHet=0;FS=3.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.098;SOR=0.969	GT:AD:DP:GQ:PL	0/1:61,75:136:99:2119,0,1581	9	0	1	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.010870	0.017544	0.000000	0.043103	0.009146	0.018939	0.05	883.43	38	chr6	139242800	.	G	A	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-1.224;SOR=0.735	GT:AD:DP:GQ:PL	0/1:59,35:94:99:895,0,1567	9	0	1	0
chr6	142075893	142075893	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon3:c.C484T:p.R162W,NMBR:NM_001324307:exon4:c.C484T:p.R162W,NMBR:NM_002511:exon4:c.C928T:p.R310W	.	433	1065	24	0	0	24	0.0111421	.	.	.	699344	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.392	0.0443608226075	0.0048	0.00319489	0.0046	0.0016	0.0042	0.0001	0.0023	0.0066	0.0044	0.0024	0.0046118	713	154602	rs142626832	0.0057	0.0057	0.0057	0.0056	0.0083	0.0056	0.0055	0.0064	0.0063	0.0010	0.0048	0.0046	0	0.0029	0.0083	0.0064	0.0060	0.0023	0.0044	0.0044	0.0047	0.0042	0.0079	0.0042	0.0040	0.0068	0.0063	0.0010	0	0.0079	0.0032	0.0004	0.0009	0.0068	0.0068	0.0057	0.0023	0.001	0.78490	D	0.029	0.54541	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	1.18	0.37746	T	-2.34	0.51811	N	0.936	0.94196	-0.7555	0.57646	T	0.156	0.48824	T	10	0.03532988	0.01777	T	0.044361	0.61452	D	0.392	0.70764	.	.	0.804686868852	0.80285	0.8196599033719563	0.81922	0.306287977142	0.32927	0.715474963188	0.69387	T	0.35663	0.72345	T	-0.0837222	0.39107	T	0.110409	0.77600	D	0.0728350477732559	0.09043	T	0.918408	0.70674	D	0.5702802	0.71076	0.59424245	0.76447	0.5702802	0.71077	0.59424245	0.76448	-10.551	0.77139	D	.	.	0.720	0.73784	P	.	.	4.135081	0.61910	24.4	0.99905509036723072	0.97651	0.86661	0.45989	D	AEFDCI	0.803252	0.72845	D	0.380703883405565	0.60376	4.225956	0.270218235454805	0.53809	3.54804	0.0607733084802156	0.15208	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	0.912	0.18476	1.996000	0.40396	0.884000	0.22419	0.670000	0.69193	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.4259:0.5741	15.314	0.73770	929	0.16858	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	0.010070	0.010101	0.013587	0.014620	0.000000	0.008621	0.006098	0.000000	0.1	3338.14	33	chr6	142075893	.	G	A	3338.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.68;DP=555;ExcessHet=0.2348;FS=0.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.66;SOR=0.655	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1526,0,1279	8	0	2	0
chr6	148543716	148543716	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1529T:p.S510L,SASH1:NM_001346508:exon11:c.C2018T:p.S673L,SASH1:NM_001346509:exon11:c.C1895T:p.S632L,SASH1:NM_001346505:exon18:c.C2111T:p.S704L,SASH1:NM_015278:exon18:c.C2246T:p.S749L,SASH1:NM_001346506:exon19:c.C1874T:p.S625L	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00640577562844	0.0002	0.000998403	0.0007	0	0.0003	0	0	6.241e-05	0.0012	0.0067	0.0006468	100	154602	rs138913048	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.123e-05	2.541e-05	0	2.558e-05	0	0.0018	2.577e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	0	0	0	0	0.0102	4.41e-05	0	0.0054	0.071	0.35165	T	0.472	0.31527	T	0.001	0.07471	B	0.002	0.06944	B	0.033633	0.24874	N	0.439290	0.966398	0.38527	D	2.045	0.56016	M	1.08	0.39401	T	-2.36	0.52128	N	0.192	0.25253	-1.0389	0.17648	T	0.062	0.25923	T	10	0.004956901	0.00106	T	0.006406	0.16841	T	0.057	0.16321	.	.	0.619004339632	0.61592	0.3150039992461185	0.31413	0.131701140582	0.14851	0.410920679569	0.26585	T	0.025131	0.21720	T	-0.524104	0.00416	T	-0.524662	0.19824	T	0.047493846159901	0.05053	T	0.886911	0.61435	D	0.11728575	0.27653	0.08419998	0.19352	0.097044855	0.22867	0.08497029	0.19586	-5.259	0.39536	T	0.1646277008792782	0.20356	0.085	0.15832	B	.;.	.;.	2.750962	0.36054	20.1	0.99472638887301112	0.66419	0.96891	0.71503	D	AEFDBI	0.267913	0.38451	N	-0.15132286854229	0.35178	2.017341	-0.0761912689404787	0.36376	2.116221	0.999999931408953	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.83	4.83	0.61880	4.221000	0.58371	3.308000	0.37439	0.599000	0.40250	0.997000	0.40164	0.998000	0.33993	0.268000	0.23719	0.0:0.9122:0.0:0.0878	10.732	0.45302	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.1	2292.14	36	chr6	148543716	.	C	T	2292.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.863;DP=467;ExcessHet=0.2348;FS=1.843;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.167;SOR=0.852	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1255,0,1309	8	0	2	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	369.45	255	chr6	149378547	.	A	G	369.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.947;DP=1056;ExcessHet=0.7463;FS=165.392;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=2.26;SOR=10.473	GT:AD:DP:GQ:PL	0/1:196,52:248:99:143,0,4492	7	0	3	0
chr6	167966010	167966010	A	G	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001291964:exon31:c.A5072G:p.N1691S,AFDN:NM_001366319:exon31:c.A5195G:p.N1732S,AFDN:NM_001366320:exon31:c.A5201G:p.N1734S,AFDN:NM_001366321:exon31:c.A5180G:p.N1727S	.	361	1158	3	0	0	3	0.00129366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0146330820705	.	0.000399361	0.0001	0.0007	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs570431188	3.148e-05	3.078e-05	2.4e-05	3.916e-05	0.0004	2.386e-05	2.125e-05	0.0002	0.0002	0	8.403e-05	0	2.798e-05	0	0.0004	8.341e-06	6.897e-05	0.0003	9.193e-05	9.185e-05	7.711e-05	0.0001	0.0010	5.524e-05	4.362e-05	0.0004	0.0003	9.626e-05	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0010	0.222	0.19361	T	0.21	0.26714	T	0.0	0.02946	B	0.001	0.04355	B	0.323950	0.14224	N	0.691920	0.99999	0.26500	N	1.525	0.38595	L	3.74	0.03951	T	-0.81	0.22294	N	0.059	0.07398	-0.9394	0.42711	T	0.003	0.00994	T	9	0.017754346	0.00381	T	0.014633	0.34872	T	0.080	0.23350	0.18	0.08751	0.043077524339	0.03247	0.162663734501286	0.16186	.	.	.	.	.	0.023079	0.70060	T	-0.589973	0.00168	T	-0.78904	0.02191	T	0.021687271521823	0.00873	T	0.805919	0.45429	T	0.040872682	0.05915	0.02856619	0.01105	0.040872682	0.05915	0.02856619	0.01105	-2.726	0.07523	T	.	.	0.069	0.03736	B	.;.;.;.	.;.;.;.	0.879320	0.12522	9.054	0.81187520863439511	0.13562	0.66241	0.33010	D	AEFDBI	0.094559	0.19117	N	-0.77663213839146	0.13920	0.6893732	-0.801007497539816	0.14471	0.7562783	0.999968952471454	0.48965	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.85	-4.72	0.03032	0.880000	0.27798	0.214000	0.15995	0.756000	0.94297	0.994000	0.38300	0.000000	0.08366	0.997000	0.79791	0.2934:0.4897:0.2169:0.0	7.276	0.25455	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2037.43	33	chr6	167966010	.	A	G	2037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.08;DP=498;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.902;SOR=0.811	GT:AD:DP:GQ:PL	0/1:89,88:177:99:2049,0,2290	9	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D,SMOC2:NM_022138:exon12:c.A1348G:p.N450D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	4	1504	13	1	0	15	0.00496196	.	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003064	0.000000	0.004087	0.014620	0.000000	0.000000	0.000000	0.003817	0.05	436.43	35	chr6	168664103	.	A	G	436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.274;DP=342;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=-0.643;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,23:57:99:448,0,826	9	0	1	0
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	0/1:36,43:81:99:.:.:1638,0,1255:.	5	0	5	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|1:16,19:35:99:0|1:290724_A_G:271,0,154:290724	3	0	6	1
chr7	1936767	1936767	C	T	exonic	MAD1L1	.	nonsynonymous SNV	MAD1L1:NM_001304525:exon2:c.G95A:p.R32H,MAD1L1:NM_001304524:exon15:c.G1451A:p.R484H,MAD1L1:NM_001304523:exon16:c.G1727A:p.R576H,MAD1L1:NM_001013836:exon17:c.G1727A:p.R576H,MAD1L1:NM_001013837:exon17:c.G1727A:p.R576H,MAD1L1:NM_003550:exon17:c.G1727A:p.R576H	Lymphoma, somatic (3);Prostate cancer, somatic	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00974158001716	0.0004	.	0.0016	0	0	0	0	0.0026	0	0.0012	0.0005498	85	154602	rs201154265	0.0011	0.0011	0.0011	0.0012	0.0018	0.0011	0.0011	0.0012	0.0012	0.0001	7.808e-05	0.0010	5.347e-05	0.0002	0.0018	0.0013	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	6.532e-05	0.0009	0	9.409e-05	0	0.0010	0.0019	0.0010	0.16	0.28395	T	0.117	0.39492	T	0.028	0.19712	B	0.014	0.16862	B	0.001842	0.37840	N	0.283615	1	0.08975	N	0.81	0.20779	L	1.88	0.23884	T	-2.39	0.56630	N	0.149	0.19055	-1.0943	0.04854	T	0.037	0.16160	T	10	0.013055682	0.00278	T	0.009742	0.25427	T	0.035	0.08770	.	.	0.202949470691	0.19918	0.1748863263074709	0.17407	0.142616884564	0.16085	0.494232356548	0.38026	T	0.396544	0.75514	T	-0.672914	0.00053	T	-0.752601	0.03386	T	0.0073815817526415	0.00085	T	0.667933	0.27701	T	0.07151845	0.15840	0.10127591	0.24239	0.096358486	0.22694	0.09634044	0.22887	-4.601	0.37844	T	.	.	0.066	0.04198	B	.;.;.;.;.;.	.;.;.;.;.;.	0.011208	0.04358	1.118	0.96024781848136276	0.28486	0.04808	0.10529	N	AEFDGBCI	0.059712	0.11298	N	-1.47780404249584	0.02007	0.08819427	-1.58392639126945	0.01753	0.07975893	0.999999104900415	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.77	-4.92	0.02848	-0.163000	0.09986	-4.350000	0.02203	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1172:0.3464:0.0:0.5364	6.795	0.22905	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	0.002049	0.000000	0.001366	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	392.43	36	chr7	1936767	.	C	T	392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.031;DP=361;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.486;SOR=0.402	GT:AD:DP:GQ:PL	0/1:23,16:39:99:404,0,618	9	0	1	0
chr7	4860226	4860226	C	G	exonic	PAPOLB	.	nonsynonymous SNV	PAPOLB:NM_020144:exon1:c.G1585C:p.G529R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00569580012353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.09621	T	0.088	0.25022	B	0.045	0.24526	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0270	0.21429	T	0.057	0.23942	T	8	0.12337512	0.23419	T	0.005696	0.14742	T	0.049	0.13647	.	.	0.370608029945	0.36667	0.15260380103135684	0.15182	0.134033539515	0.15102	0.242401435971	0.03010	T	.	.	.	-0.273004	0.11424	T	-0.629928	0.10420	T	0.101087149149884	0.12476	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.	.	1.935340	0.24581	16.45	0.42693050946042072	0.03164	0.95188	0.63763	D	AEFGBI	0.337765	0.43545	N	-0.654240595800082	0.17337	0.8912466	-0.598098565084437	0.19542	1.048975	5.54759051862418E-4	0.07304	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.48	2.66	0.30672	3.737000	0.54781	1.814000	0.28986	0.549000	0.26987	0.997000	0.40164	0.004000	0.18990	0.193000	0.21690	0.0:0.7535:0.1579:0.0886	8.331	0.31348	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1680.43	35	chr7	4860226	.	C	G	1680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.775;DP=476;ExcessHet=0;FS=3.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.335;SOR=0.968	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1692,0,2105	9	0	1	0
chr7	6330718	6330718	G	A	exonic	FAM220A	.	nonsynonymous SNV	FAM220A:NM_001037163:exon2:c.C437T:p.P146L	.	411	1097	14	0	0	14	0.00634058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00344751853347	0.0016	0.00139776	0.0010	0.0048	0.0005	0	0	0.0007	0.0022	0.0009	0.0009961	154	154602	rs75910050	0.0008	0.0008	0.0008	0.0008	0.0220	0.0008	0.0008	0.0189	0.0177	0.0066	0.0011	0.0005	2.519e-05	0	0.0220	0.0005	0.0022	0.0008	0.0021	0.0021	0.0021	0.0021	0.0053	0.0019	0.0018	0.0047	0.0045	0.0053	0	0.0012	0.0006	0	0	0.0034	0.0010	0.0028	0.0008	0.408	0.10212	T	0.468	0.12316	T	0.007	0.14184	B	0.005	0.11217	B	0.919104	0.08499	N	0.950055	1	0.08975	N	0.55	0.14455	N	3.23	0.06931	T	-2.74	0.58248	D	0.106	0.09066	-0.9274	0.44516	T	0.010	0.03765	T	10	0.0046599805	0.00098	T	0.003448	0.07786	T	0.049	0.13647	.	.	0.104622674875	0.10061	0.04310566517497903	0.04255	0.0417253464101	0.04484	0.242958009243	0.03063	T	0.001488	0.00934	T	-0.668667	0.00056	T	-0.732042	0.04236	T	0.00722983047872792	0.00083	T	0.548745	0.18852	T	0.027243165	0.01890	0.047713682	0.06934	0.027243165	0.01890	0.047713682	0.06933	-3.466	0.15959	T	.	.	0.125	0.26482	B	.;.	.;.	0.233142	0.06140	2.588	0.98839569530909077	0.47102	0.02741	0.07418	N	AEFBI	0.051587	0.09128	N	-1.23948508893055	0.04439	0.2003722	-1.23595987054278	0.05342	0.2543025	2.40447898683566E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.22	0.04808	-1.862000	0.01745	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.0958:0.4499:0.1961:0.2582	4.092	0.09448	873	0.30802	SIPAR domain;SIPAR 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	0.010574	0.000000	0.009511	0.043860	0.000000	0.000000	0.003049	0.003788	0.05	1760.43	34	chr7	6330718	.	G	A	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=1190;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.91;SOR=0.57	GT:AD:DP:GQ:PL	0/1:104,74:178:99:1772,0,2595	9	0	1	0
chr7	27156238	27156238	T	C	exonic	HOXA7	.	nonsynonymous SNV	HOXA7:NM_006896:exon1:c.A308G:p.K103R	.	415	1095	12	0	0	12	0.00544959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	.	0.0056	0.0141773	0.0102	0.0323	0.0193	0	0	0.0040	0.0173	0.0204	0.0060154	930	154602	rs35510017	0.0035	0.0035	0.0032	0.0039	0.0200	0.0034	0.0034	0.0188	0.0183	0.0200	0.0096	0.0050	7.596e-05	0	0.0195	0.0018	0.0066	0.0168	0.0087	0.0087	0.0080	0.0094	0.0200	0.0083	0.0081	0.0189	0.0184	0.0200	0	0.0122	0.0046	0	9.406e-05	0.0578	0.0021	0.0175	0.0184	0.191	0.21066	T	0.421	0.14075	T	0.893	0.49136	P	0.402	0.44547	B	0.000058	0.53742	D	0.123621	0.868877	0.35525	D	1.59	0.40313	L	-2.75	0.90792	D	-0.79	0.21860	N	0.368	0.40963	0.207	0.86025	D	0.426	0.76969	T	10	0.0062873065	0.00142	T	.	.	.	0.361	0.68141	.	.	0.870290592605	0.86902	0.4730644349732166	0.47225	1.07468009698	0.76925	0.681364357471	0.64464	T	0.067694	0.33267	T	-0.394623	0.02510	T	-0.32403	0.42131	T	0.0216822671136913	0.00873	T	0.571443	0.20372	T	0.16014619	0.35936	0.25390467	0.51046	0.16014619	0.35936	0.25390467	0.51045	-4.448	0.30203	T	.	.	0.081	0.08224	B	.	.	3.368921	0.46543	22.3	0.98907069079365495	0.48290	0.93334	0.57939	D	ALL	0.699897	0.65709	D	0.38223975594174	0.60459	4.235092	0.433716534570468	0.63678	4.606424	0.999999999999995	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.581474	0.35302	0	.	.	5.59	5.59	0.84677	5.803000	0.68791	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.771	0.77938	203	0.92088	.	.	.	.	.	.	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	0.033941	0.097938	0.036685	0.038012	0.000000	0.017241	0.003125	0.011450	0.05	1039.43	34	chr7	27156238	.	T	C	1039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.35;DP=378;ExcessHet=0;FS=1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=1.5;SOR=0.85	GT:AD:DP:GQ:PL	0/1:21,41:62:99:1051,0,507	9	0	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1020.39	56	chr7	28956680	.	A	AGCTGCG	1020.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.289;DP=535;ExcessHet=0;FS=5.275;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.282;SOR=1.44	GT:AD:DP:GQ:PL	0/1:33,27:60:99:1032,0,1295	9	0	1	0
chr7	30971980	30971980	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G482A:p.R161Q	Growth hormone deficiency, isolated, type IB	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.14232649169	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1423511225	1.231e-05	1.231e-05	1.225e-05	1.238e-05	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	7.493e-05	0	1.079e-05	3.312e-05	0	6.578e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999978	0.81001	D	3.63	0.94006	H	1.22	0.37052	T	-3.89	0.73151	D	0.945	0.95256	-0.1733	0.78347	T	0.316	0.68602	T	9	0.98841184	0.99257	D	0.142326	0.82470	D	0.598	0.84074	0.967	0.99679	0.567895071198	0.56453	0.8721766384150222	0.87183	0.519879735987	0.49802	0.502553582191	0.39183	T	0.581754	0.86315	D	0.310365	0.83774	D	0.208042	0.83563	D	0.998424291610718	0.94111	D	0.969503	0.97531	D	0.89280576	0.90749	0.8049431	0.88580	0.89280576	0.90750	0.8049431	0.88581	-11.308	0.81320	D	0.7420922183359305	0.82418	0.433	0.61342	A	.;.	.;.	5.601100	0.92456	32	0.99939332263391323	0.99734	0.98719	0.85981	D	AEFDGBI	0.892877	0.83026	D	0.919001468993172	0.92659	11.55222	0.811484327488168	0.90581	10.473	0.999999995018801	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	4.66	0.57857	9.568000	0.97316	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.209000	0.22154	0.0:0.0:1.0:0.0	15.093	0.71881	926	0.17793	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2358.43	40	chr7	30971980	.	G	A	2358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=482;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.05;SOR=0.63	GT:AD:DP:GQ:PL	0/1:63,87:150:99:2370,0,1349	9	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/1:44,28:84:99:211,0,698	4	0	6	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	0/1:60,30:119:18:.:.:147,0,755:.	4	0	6	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	167.71	61	chr7	48103309	.	A	G	167.71	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.007;DP=721;ExcessHet=0.2348;FS=139.147;InbreedingCoeff=-0.1766;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.014;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,16:99:25:.:.:25,0,2386:.	6	0	2	2
chr7	55152588	55152588	G	A	exonic	EGFR	.	nonsynonymous SNV	EGFR:NM_001346897:exon5:c.G536A:p.R179H,EGFR:NM_001346899:exon5:c.G536A:p.R179H,EGFR:NM_001346898:exon6:c.G671A:p.R224H,EGFR:NM_001346900:exon6:c.G512A:p.R171H,EGFR:NM_005228:exon6:c.G671A:p.R224H,EGFR:NM_201282:exon6:c.G671A:p.R224H,EGFR:NM_201283:exon6:c.G671A:p.R224H,EGFR:NM_201284:exon6:c.G671A:p.R224H	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	833665	Hereditary_cancer-predisposing_syndrome|EGFR-related_lung_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN130014	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0464735616129	.	.	5.829e-05	0	0	0	0	6.082e-05	0	0.0002	4.53e-05	7	154602	rs759106015	2.053e-05	2.121e-05	1.634e-05	2.476e-05	0.0002	1.456e-05	1.264e-05	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	1.619e-05	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.129	0.56192	T	0.991	0.90584	D	0.829	0.77976	P	0.000002	0.62929	D	0.098646	0.99594	0.46701	D	1.915	0.51223	L	-0.02	0.62918	T	-1.09	0.30555	N	0.49	0.53445	-0.3251	0.74278	T	0.396	0.74836	T	10	0.46462157	0.59494	T	0.046474	0.62475	D	0.196	0.47777	0.598	0.72862	0.70270300816	0.70012	0.5241999765727162	0.52343	1.54032423807	0.87701	0.526009619236	0.42472	T	0.443514	0.87115	T	-0.161655	0.26506	T	-0.233314	0.51451	T	0.676087915897369	0.39611	D	0.952605	0.85096	D	0.5014509	0.67180	0.2179561	0.46481	0.5014509	0.67181	0.2179561	0.46480	-3.743	0.25892	T	0.15882935053039832	0.19272	0.142	0.37274	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.958466	0.81967	27.7	0.99948131899816983	0.99923	0.91275	0.53206	D	AEFDBI	0.529802	0.55076	D	0.616046071119135	0.74188	6.090574	0.616197070354043	0.76115	6.432054	0.999999483995998	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.3	5.3	0.74745	4.414000	0.59555	8.369000	0.77044	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.508	0.87649	947	0.11584	Furin-like cysteine-rich domain;.;Furin-like cysteine-rich domain;.;.;Furin-like cysteine-rich domain;Furin-like cysteine-rich 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	1754.43	34	chr7	55152588	.	G	A	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=471;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.376;SOR=0.604	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1766,0,1174	9	0	1	0
chr7	75987922	75987922	C	A	splicing	TMEM120A	NM_031925:exon8:c.691+1G>T;NM_001317803:exon8:c.691+1G>T;NM_001363462:exon7:c.794+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310573	0.83789	D	0.20834	0.83579	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.059350	0.94461	34	0.99147864305022659	0.53737	0.98013	0.78872	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999990251921	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.117559	0.03655	0	0.972978	0.75373	3.41	3.41	0.38145	6.093000	0.71069	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.077	0.71751	602	0.67834	.;.;.;.;.	.	.	.	.	.	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	2454.43	45	chr7	75987922	.	C	A	2454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=593;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.42;SOR=0.637	GT:AD:DP:GQ:PL	0/1:88,98:186:99:2466,0,2093	9	0	1	0
chr7	87426904	87426904	A	T	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon16:c.T1910A:p.I637N,ABCB4:NM_018849:exon16:c.T1910A:p.I637N,ABCB4:NM_018850:exon16:c.T1910A:p.I637N	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	4	1512	6	0	0	6	0.0019802	.	.	.	1037823	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.0932750935927	0.0002	.	0.0001	0	8.7e-05	0	0	4.519e-05	0.0011	0.0005	0.0001229	19	154602	rs202167250	0.0001	0.0001	7.352e-05	0.0001	0.0009	9.051e-05	8.534e-05	0.0006	0.0005	0	4.473e-05	3.828e-05	0	0	0.0009	6.206e-05	0.0002	0.0007	0.0001	0.0001	6.456e-05	0.0002	0.0015	7.623e-05	6.32e-05	0.0007	0.0005	0	0	6.593e-05	0	0	0	0	0.0001	0	0.0015	0.483	0.08188	T	0.589	0.11227	T	0.0	0.02946	B	0.009	0.14300	B	0.001481	0.00791	N	3.438500	1	0.08975	N	0.625	0.15840	N	-2.18	0.86722	D	-1.02	0.26843	N	0.198	0.23253	-0.7332	0.58801	T	0.418	0.76408	T	10	0.024738103	0.00691	T	0.093275	0.76044	D	0.254	0.56428	.	.	0.279370189704	0.27548	0.2983255275896754	0.29745	0.483371570109	0.47292	0.421390205622	0.28028	T	0.191927	0.54692	T	-0.362237	0.04005	T	-0.415374	0.31606	T	0.0402595698833466	0.03738	T	0.818018	0.47523	T	0.076635785	0.17344	0.06567997	0.13346	0.076635785	0.17343	0.06567997	0.13345	-2.072	0.03644	T	0.0714429026924326	0.02843	0.071	0.05668	B	.;.;.;.;.	.;.;.;.;.	1.087697	0.14711	11.26	0.38176797181275923	0.02559	0.06549	0.12562	N	AEFBI	0.207359	0.33354	N	-1.46172775267772	0.02126	0.09355688	-1.49467651410227	0.02387	0.1097215	0.0130269239081041	0.12406	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.92	-2.36	0.06282	0.201000	0.17074	0.089000	0.14491	-0.051000	0.17024	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.5119:0.0:0.206:0.282	4.658	0.12014	469	0.78175	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	506.43	33	chr7	87426904	.	A	T	506.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.361;DP=347;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.203;SOR=1.022	GT:AD:DP:GQ:PL	0/1:21,19:40:99:518,0,596	9	0	1	0
chr7	93101794	93101794	G	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.C4304T:p.A1435V,SAMD9:NM_017654:exon3:c.C4304T:p.A1435V	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00661034606428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.0	0.92824	D	0.997	0.70673	D	0.887	0.62952	P	0.000144	0.49130	D	0.078191	0.960491	0.38183	D	2.35	0.67516	M	1.81	0.25182	T	-1.17	0.29933	N	0.527	0.55626	-1.0346	0.18983	T	0.107	0.38906	T	10	0.5147096	0.62299	D	0.00661	0.17444	T	0.188	0.46444	0.343	0.33626	0.405839309607	0.40195	0.25079414112991283	0.24993	0.655654456788	0.58598	0.497941374779	0.38541	T	0.016555	0.13660	T	-0.0574532	0.43303	T	-0.320304	0.42542	T	0.974688947200775	0.70612	D	0.867113	0.56785	D	0.1291053	0.30164	0.11630892	0.28078	0.1291053	0.30164	0.11630892	0.28077	-5.699	0.43685	T	0.4739927135675689	0.55390	0.533	0.66042	A	.;.	.;.	3.682887	0.52433	23.2	0.99880291061353033	0.95653	0.97376	0.74358	D	AEFBI	0.667246	0.63544	D	0.397249371701293	0.61272	4.326125	0.321927718060265	0.56830	3.847072	0.999999813156593	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.35	4.35	0.51454	7.122000	0.76789	9.581000	0.81029	0.654000	0.53741	0.996000	0.39380	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	15.932	0.79459	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2151.43	40	chr7	93101794	.	G	A	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.427;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.421;SOR=0.673	GT:AD:DP:GQ:PL	0/1:93,83:176:99:2163,0,2613	9	0	1	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	0/1:161,42:203:99:.:.:258,0,3730:.	0	0	10	0
chr7	97009871	97009871	G	C	exonic	DLX6	.	nonsynonymous SNV	DLX6:NM_005222:exon3:c.G706C:p.D236H	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.0873183123038	.	.	3.32e-05	0.0001	0	0	0	1.503e-05	0.0022	0	2.59e-05	4	154602	rs778865296	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0002	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	0	0	0	1.873e-05	0.0002	4.497e-06	4.969e-05	2.319e-05	6.567e-06	1.312e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.431	0.17821	T	0.029	0.54541	D	.	.	.	.	.	.	0.000002	0.62929	D	0.131604	1	0.81001	D	.	.	.	-2.85	0.91363	D	-3.09	0.64246	D	0.325	0.56833	0.544	0.91153	D	0.806	0.93450	D	10	0.33623612	0.50767	T	0.087318	0.74912	D	0.481	0.77142	0.212	0.13066	0.683361847445	0.68066	0.5741661920938673	0.57345	1.72559754066	0.90647	0.75704407692	0.75490	T	0.024963	0.18762	T	0.0932867	0.63557	D	-0.0401307	0.67692	D	0.988691926002502	0.78995	D	0.921608	0.72088	D	.	.	.	.	.	.	.	.	-13.112	0.89818	D	.	.	0.620	0.69690	P	.;.	.;.	4.980708	0.82498	27.8	0.99556063098952685	0.71459	0.96373	0.68821	D	AEFDBHCI	0.939735	0.94073	D	0.725129506815512	0.81280	7.48528	0.739172407432315	0.85347	8.553119	0.999999999998267	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	7.943000	0.87192	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.974	0.97297	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	34	chr7	97009871	.	G	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=417;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1293,0,1224	9	0	1	0
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009639	0.013889	0.000000	0.004464	0.000000	0.000000	0.021127	0.021277	0.05	500.43	34	chr7	98617646	.	C	T	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=314;ExcessHet=0;FS=1.149;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.154;SOR=0.604	GT:AD:DP:GQ:PL	0/1:25,21:46:99:512,0,672	9	0	1	0
chr7	100173918	100173918	A	G	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon5:c.T809C:p.M270T	.	425	1087	10	0	0	10	0.00457875	.	.	.	2675513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0182527814312	0.0002	.	0.0003	0	0.0007	0	0.0002	0.0003	0.0011	0	0.000207	32	154602	rs199810091	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0.0010	0	1.876e-05	0.0019	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0.0012	0	9.416e-05	0.0102	0.0002	0	0	0.025	0.47320	D	0.23	0.25135	T	0.037	0.20876	B	0.03	0.21741	B	0.806378	0.06800	N	1.094290	1	0.08975	N	1.7	0.43825	L	0.81	0.48460	T	-0.93	0.24898	N	0.278	0.31478	-0.9836	0.34164	T	0.082	0.32178	T	10	0.041591376	0.02828	T	0.018253	0.40250	T	0.028	0.06331	.	.	0.136095386433	0.13204	0.25809384976511984	0.25723	0.385980496119	0.39890	0.395523667336	0.24445	T	0.129206	0.45735	T	-0.404977	0.02147	T	-0.487434	0.23659	T	0.010684724201195	0.00150	T	0.409559	0.10569	T	0.12205149	0.28689	0.112317055	0.27100	0.12205149	0.28689	0.112317055	0.27099	-1.892	0.02798	T	.	.	0.091	0.13032	B	.	.	1.914630	0.24320	16.35	0.63200447522113445	0.07161	0.04331	0.09890	N	AEFDBCI	0.035073	0.04452	N	-1.07710849372717	0.07067	0.3271935	-1.09424962846216	0.07812	0.3815308	0.506737191593842	0.20987	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.92	-1.52	0.08181	0.717000	0.25523	2.542000	0.33220	-0.121000	0.13915	0.028000	0.20300	0.568000	0.25556	0.638000	0.32368	0.14:0.3378:0.3966:0.1257	3.249	0.06406	283	0.88803	Glypican, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1644.43	34	chr7	100173918	.	A	G	1644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.711;DP=428;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.43;SOR=0.514	GT:AD:DP:GQ:PL	0/1:50,70:120:99:1656,0,1117	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|1:77,33:110:99:0|1:100175805_G_C:835,0,2622:100175805	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	1|1:0,96:96:99:1|1:100773849_CCAT_C:4320,289,0:100773849	2	3	5	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.1	2573.14	40	chr7	100779666	.	C	T	2573.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.418;DP=494;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.068;SOR=0.677	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1061,0,637	8	0	2	0
chr7	100884541	100884541	G	C	exonic	SRRT	.	nonsynonymous SNV	SRRT:NM_001128852:exon7:c.G931C:p.D311H,SRRT:NM_001128853:exon7:c.G931C:p.D311H,SRRT:NM_001128854:exon7:c.G931C:p.D311H,SRRT:NM_015908:exon7:c.G931C:p.D311H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0148003281535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.375e-06	5.815e-05	7.622e-06	3.095e-06	6.925e-06	2.24e-06	1.44e-06	2.88e-06	1.85e-06	0	0	0	0	0	0	6.925e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.49390	T	0.899	0.49514	P	0.548	0.49136	P	0.021263	0.26867	N	0.380247	0.999723	0.53665	D	0.69	0.16971	N	.	.	.	.	.	.	0.29	0.34767	-1.0688	0.09679	T	0.030	0.12717	T	10	0.1586496	0.29828	T	0.015	0.35150	T	.	.	0.174	0.08014	0.082315109003	0.07666	0.2009740913685552	0.20014	.	.	0.571929574013	0.48951	T	0.237057	0.60467	T	-0.12207	0.32786	T	-0.413122	0.31865	T	0.822384238243103	0.47950	D	0.861714	0.57103	D	0.070811324	0.15629	0.09456638	0.22389	0.070811324	0.15628	0.09456638	0.22389	-9.288	0.69601	D	.	.	0.152	0.38462	B	.;.;.;.	.;.;.;.	3.821314	0.55182	23.6	0.99246197506353184	0.56727	0.91410	0.53477	D	AEFBCI	0.619060	0.60464	D	0.0182736835981947	0.42687	2.57665	0.0364267524968206	0.41419	2.488157	0.999999999135195	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	3.91	3.91	0.44383	4.221000	0.58371	11.725000	0.94886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	11.586	0.50176	692	0.58729	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	47.7	43	chr7	100884541	.	G	C	47.7	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.398;DP=595;ExcessHet=0.2348;FS=209.413;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=-0.448;SOR=7.903	GT:AD:DP:GQ:PL	0/1:49,11:60:9:9,0,772	7	0	2	1
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,136:527:99:0|1:100952942_T_G:4702,0,13657:100952942	3	0	7	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	0/1:382,98:530:99:2965,0,15745	1	0	9	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5130.14	276	chr7	100954094	.	A	G	5130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.769;DP=3320;ExcessHet=0.2348;FS=6.062;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.35;MQRankSum=7.5;QD=8.42;ReadPosRankSum=0.749;SOR=0.751	GT:AD:DP:GQ:PL	0/1:190,143:333:99:3147,0,5337	8	0	2	0
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2136.14	665	chr7	100955959	.	A	G	2136.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.731;DP=6655;ExcessHet=0.2348;FS=6.287;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.2;MQRankSum=-14.57;QD=1.7;ReadPosRankSum=1.46;SOR=1.237	GT:AD:DP:GQ:PL	0/1:539,101:700:99:956,0,20932	8	0	2	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	42275.8	541	chr7	100960582	.	T	*	42275.8	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.435;DP=6282;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.055;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,128:613:99:0|1:100960582_T_A:5857,0,14341:100960582	7	0	3	0
chr7	100996232	100996232	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C5669T:p.T1890M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0173797861704	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1231887143	7.96e-05	0.0006	9.155e-05	6.73e-05	0.0031	6.731e-05	6.256e-05	0.0026	0.0024	0.0031	0.0001	0	0	0	0	3.768e-06	8.842e-05	7.796e-05	0.0008	0.0054	0.0008	0.0008	0.0029	0.0007	0.0006	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	1.473e-05	0.0005	0	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.7	0.12162	T	-1.43	0.35194	N	0.023	0.01740	-0.9734	0.36474	T	0.019	0.07939	T	6	0.042583793	0.03022	T	0.01738	0.39055	T	0.011	0.01250	0.2	0.11384	0.0482279557977	0.04254	0.02543632627579752	0.02494	.	.	0.568692445755	0.48493	T	0.005547	0.05002	T	-0.339044	0.05455	T	-0.72479	0.04567	T	0.0192322482552355	0.00629	T	0.510449	0.16283	T	0.04754467	0.08144	0.09889975	0.23595	0.04754467	0.08144	0.09889975	0.23594	-7.41	0.56975	T	.	.	0.156	0.34514	B	.;.	.;.	2.046236	0.26014	16.97	0.51208319387810564	0.04521	0.00418	0.02065	N	AEFI	0.028299	0.02467	N	-0.858352768303371	0.11844	0.573908	-1.02831286085468	0.09165	0.4544672	1.63987838134513E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.744	0.744	0.17503	-0.044000	0.11977	-1.999000	0.04367	-1.577000	0.00925	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	182.43	56	chr7	100996232	.	C	T	182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.09;MQRankSum=-0.751;QD=3.38;ReadPosRankSum=-0.88;SOR=0.058	GT:AD:DP:GQ:PL	0/1:44,10:54:99:194,0,1427	9	0	1	0
chr7	100996691	100996691	T	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.T6128C:p.V2043A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00689331228106	.	.	0.0002	0	0	0	0	0	0	0.0006	3.84e-05	1	26028	rs767427396	2.148e-05	5.689e-05	2.051e-05	2.244e-05	0.0003	1.374e-05	1.107e-05	7.513e-05	5.628e-05	5.083e-05	8.553e-05	0	0	0	0.0003	6.123e-06	4.993e-05	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	7.579e-05	6.204e-05	0.0002	0.0002	0.0003	0	0.0003	0	0	0	0	1.612e-05	0	0	0.566	0.06262	T	0.563	0.09022	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.66	0.12575	T	-0.05	0.07736	N	0.032	0.00882	-0.9434	0.42073	T	0.012	0.04700	T	7	0.04305029	0.03115	T	0.006893	0.18233	T	0.053	0.14996	0.077	0.00572	0.0138822411134	0.00435	0.008497003684550438	0.00813	.	.	0.457367569208	0.32950	T	0.003613	0.03020	T	-0.403184	0.02206	T	-0.816923	0.01515	T	0.0254349916077329	0.01330	T	0.221278	0.03057	T	0.019719224	0.00509	0.03130056	0.01699	0.019719224	0.00508	0.03130056	0.01699	-6.875	0.62365	T	.	.	0.362	0.57311	A	.;.	.;.	-0.754910	0.01199	0.059	0.30904732668997048	0.01714	0.00065	0.00468	N	AEFI	0.029922	0.02914	N	-1.13378982589605	0.06050	0.2775148	-1.29937916625295	0.04440	0.2094076	1.2302482961349E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.576	0.11143	-4.137000	0.00326	-20.000000	0.00162	-2.289000	0.00325	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3205:0.0:0.6795	3.041	0.05766	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	2484.43	33	chr7	100996691	.	T	C	2484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=880;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=37.65;MQRankSum=-1.59;QD=4.25;ReadPosRankSum=-1.722;SOR=0.773	GT:AD:DP:GQ:PL	0/1:437,147:584:99:2496,0,10672	9	0	1	0
chr7	100999072	100999072	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G8509A:p.E2837K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.013734817451	.	.	0.0009	0	0	0	0	0.0015	0	0.0008	3.84e-05	1	26028	rs773068041	1.983e-05	0.0005	1.593e-05	2.384e-05	0.0003	1.358e-05	1.164e-05	0.0002	0.0001	0.0003	0	8.128e-05	0	0	0	1.129e-05	1.762e-05	2.57e-05	9.327e-05	0.0022	0.0001	6.809e-05	0.0003	5.602e-05	4.423e-05	0.0002	0.0001	0.0003	0	6.578e-05	0	0	0	0	1.472e-05	0	0	0.19	0.21144	T	0.339	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.67	0.12473	T	-0.91	0.24460	N	0.056	0.02759	-0.9431	0.42121	T	0.013	0.04985	T	6	0.024649203	0.00686	T	0.013735	0.33353	T	0.007	0.00512	0.346	0.34112	0.0138822411134	0.00435	0.12496359971315486	0.12422	.	.	0.500120162964	0.38845	T	0.003695	0.03101	T	-0.37452	0.03372	T	-0.775748	0.02584	T	0.014086260900262	0.00274	T	0.276272	0.05662	T	0.0747081	0.16783	0.09225033	0.21731	0.0747081	0.16783	0.09225033	0.21731	-8.195	0.64416	D	.	.	0.173	0.38747	B	.;.	.;.	0.450798	0.08207	4.946	0.94802603457153267	0.25554	0.00165	0.00980	N	AEFI	0.044306	0.07111	N	-1.17698486655307	0.05349	0.2436335	-1.34567130505186	0.03857	0.1807825	1.17019748283552E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.1	0.1	0.13817	-1.440000	0.02518	-0.565000	0.08457	-0.666000	0.04332	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	0.004310	0.007692	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	613.43	72	chr7	100999072	.	G	A	613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.72;DP=1021;ExcessHet=0;FS=5.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.17;MQRankSum=-0.881;QD=2.26;ReadPosRankSum=-0.033;SOR=1.4	GT:AD:DP:GQ:PL	0/1:231,41:272:99:625,0,6644	9	0	1	0
chr7	101000747	101000747	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C10184T:p.P3395L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0241055654086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.257e-07	6.844e-06	0	1.471e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.736e-05	0	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.47	0.14907	T	-3.62	0.69593	D	0.131	0.12627	-0.9992	0.30143	T	0.017	0.06807	T	5	0.08890256	0.15351	T	0.024106	0.47094	T	0.094	0.27141	0.215	0.13498	0.0846915920261	0.08053	0.02369062732102179	0.02321	.	.	0.511341333389	0.40410	T	0.050369	0.28575	T	-0.251247	0.13946	T	-0.598675	0.12923	T	0.221964571421246	0.21561	T	0.39556	0.10511	T	0.057885196	0.11576	0.09711602	0.23102	0.057885196	0.11576	0.09711602	0.23101	-6.031	0.46538	T	.	.	0.188	0.40506	B	.;.	.;.	0.804520	0.11755	8.328	0.24498099568954018	0.01086	0.00585	0.02632	N	AEFI	0.031340	0.03327	N	-1.29506736921487	0.03734	0.1673412	-1.47508842201678	0.02550	0.1174812	3.75354971709761E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	.	.	.	1.302000	0.33063	-0.061000	0.12424	-0.702000	0.04048	0.052000	0.21487	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	304.43	336	chr7	101000747	.	C	T	304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.82;DP=2861;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.82;MQRankSum=-0.605;QD=0.9;ReadPosRankSum=1.43;SOR=0.523	GT:AD:DP:GQ:PL	0/1:294,43:337:99:316,0,7925	9	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.73	151	chr7	102934283	.	G	C	302.73	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.272;DP=1206;ExcessHet=0.2348;FS=174.798;InbreedingCoeff=-0.2507;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.04;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,42:147:99:.:.:293,0,2173:.	5	0	2	3
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	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	401.13	131	chr7	105614066	.	G	C	401.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.742;DP=1081;ExcessHet=1.5895;FS=151.643;InbreedingCoeff=-0.2631;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.66;SOR=9.84	GT:AD:DP:GQ:PL	0/1:78,25:109:99:113,0,1866	6	0	4	0
chr7	108573295	108573295	C	T	exonic	DNAJB9	.	nonsynonymous SNV	DNAJB9:NM_012328:exon3:c.C614T:p.T205I	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0503463943153	7.7e-05	0.00159744	0.0011	9.919e-05	0.0003	0	0	1.508e-05	0.0045	0.0076	0.0008926	138	154602	rs149830505	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	2.256e-05	0	0	0	0.0002	1.08e-05	0.0005	0.0075	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	4.813e-05	0	0.0001	0	0	0	0	8.822e-05	0	0.0087	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	0.04	0.62051	T	-3.55	0.68764	D	0.701	0.70527	-0.2253	0.77011	T	0.451	0.78526	T	9	0.011724949	0.00255	T	0.050346	0.64202	D	0.417	0.72705	.	.	0.871338674743	0.87008	0.6388483140659577	0.63818	0.0804335868043	0.09048	0.837632000446	0.87733	D	0.201927	0.55995	T	-0.0950034	0.37250	T	0.0950427	0.76579	D	0.124678432114268	0.14882	T	0.943706	0.78720	D	0.67723936	0.76820	0.6201236	0.77873	0.67723936	0.76822	0.6201236	0.77874	-10.827	0.78701	D	.	.	0.958	0.87815	P	.	.	4.763672	0.77037	26.6	0.99887909880658698	0.96281	0.99094	0.91137	D	AEFDBI	0.926250	0.90706	D	0.836727476226969	0.88341	9.541633	0.834286892232093	0.92065	11.21757	0.999999999999999	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.457000	0.79807	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.190	0.93648	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1306.43	34	chr7	108573295	.	C	T	1306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.897;DP=440;ExcessHet=0;FS=2.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.119;SOR=0.948	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1318,0,1879	9	0	1	0
chr7	117384751	117384751	A	G	exonic	ASZ1	.	nonsynonymous SNV	ASZ1:NM_001301822:exon5:c.T38C:p.I13T,ASZ1:NM_001301821:exon6:c.T662C:p.I221T,ASZ1:NM_130768:exon6:c.T662C:p.I221T	.	.	.	.	.	.	.	.	.	.	.	2356358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.0675848521639	.	.	5.791e-05	0	0.0005	0	0	0	0	6.089e-05	4.53e-05	7	154602	rs780891217	3.905e-05	3.967e-05	4.226e-05	3.58e-05	0.0005	3.051e-05	2.787e-05	0.0003	0.0002	0	0.0005	0	0	0	0	1.8e-05	0.0001	9.294e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.171e-05	6.727e-05	0.0007	0.0005	7.24e-05	0	0.0010	0	0	0	0	0	0	0	0.002	0.72154	D	0.036	0.52060	D	0.954	0.54400	P	0.424	0.45210	B	0.000126	0.49741	D	0.205081	0.999591	0.47742	D	2.215	0.62545	M	-0.67	0.72458	T	-3.18	0.64478	D	0.775	0.77226	-0.4682	0.69788	T	0.306	0.67712	T	10	0.49768946	0.61363	T	0.067585	0.70207	D	0.493	0.77910	0.379	0.39482	0.73115129609	0.72875	0.33401659238892	0.33314	0.0878256601607	0.09913	0.605622768402	0.53698	T	0.352723	0.72012	T	-0.0658821	0.41983	T	-0.0306902	0.68322	D	0.117653913950862	0.14198	T	0.850615	0.53448	D	0.34773692	0.56891	0.35679978	0.61185	0.34773692	0.56891	0.35679978	0.61185	-8.262	0.62842	D	.	.	0.193	0.41280	B	.	.	3.746835	0.53679	23.4	0.99501038396582031	0.68031	0.90518	0.51760	D	AEFDGBCIJ	0.577858	0.57929	D	0.44949747396105	0.64174	4.666178	0.469540096283827	0.65983	4.893033	0.999999462345436	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	4.68	0.58319	6.718000	0.74528	11.166000	0.87810	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9251:0.0:0.0749:0.0	10.859	0.46024	462	0.78611	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1209.43	35	chr7	117384751	.	A	G	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.339;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.139;SOR=0.608	GT:AD:DP:GQ:PL	0/1:34,55:89:99:1221,0,781	9	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	80.08	41	chr7	124032238	.	T	C	80.08	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.801;DP=967;ExcessHet=0.7463;FS=125.612;InbreedingCoeff=-0.1934;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.84;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,21:135:48:0|1:124032236_G_A:48,0,3612:124032236	7	0	3	0
chr7	124032552	124032552	G	A	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.C452T:p.A151V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0093775740499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247744300	7.158e-07	1.368e-06	1.412e-06	0	3.173e-05	0	0	.	.	3.173e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.064	0.44905	T	0.064	0.23455	B	0.02	0.19048	B	.	.	.	.	0.991783	0.23983	N	1.95	0.52479	M	.	.	.	-0.93	0.24898	N	0.213	0.23758	-1.0176	0.24495	T	0.060	0.25273	T	8	0.091376424	0.16001	T	0.009378	0.24600	T	0.180	0.45073	0.241	0.17371	0.0138822411134	0.00435	0.11991789268579872	0.11918	.	.	0.751051425934	0.74602	T	0.00378	0.03191	T	-0.154629	0.27589	T	-0.45989	0.26610	T	0.090027997140362	0.11222	T	0.558444	0.19458	T	0.06542047	0.13980	0.075885415	0.16751	0.06542047	0.13979	0.075885415	0.16750	-4.931	0.36082	T	.	.	0.118	0.24226	B	.	.	1.959978	0.24899	16.57	0.99391531224533614	0.62383	0.35694	0.25361	N	AEFDBHCIJ	0.212838	0.33848	N	-0.667395572268876	0.16955	0.8683963	-0.657860360441656	0.18019	0.9607195	0.998846382803767	0.37800	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.3	1.17	0.19998	1.192000	0.31759	5.457000	0.48661	0.526000	0.24426	0.046000	0.21249	0.984000	0.30665	0.050000	0.15192	0.1523:0.0:0.5615:0.2861	3.147	0.06085	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	663.43	34	chr7	124032552	.	G	A	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.61;SOR=0.847	GT:AD:DP:GQ:PL	0/1:27,24:51:99:675,0,642	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	0/1:209,25:236:99:.:.:525,0,8657:.	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	0/1:209,29:238:99:.:.:574,0,8657:.	1	0	7	2
chr7	134210113	134210113	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G3253A:p.A1085T,LRGUK:NM_001365701:exon16:c.G3250A:p.A1084T	.	1210	310	1	1	0	3	0.00481541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.000718	111	154602	rs113987610	0.0054	0.0024	0.0054	0.0053	0.0057	0.0051	0.0050	0.0054	0.0053	0.0004	0.0036	0.0045	0	0.0130	0.0039	0.0057	0.0040	0	0.0042	0.0042	0.0041	0.0043	0.0056	0.0039	0.0038	0.0052	0.0050	0.0009	0.0121	0.0041	0.0066	0	0.0098	0.0034	0.0056	0.0090	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999987	0.18198	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051732957	0.00112	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227477	0.03026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	0.406270	0.07776	4.460	0.69485390337206165	0.08987	0.10895	0.16267	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999992998058171	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.058706	0.01089	0	0.138442	0.26567	5.42	1.35	0.21078	0.644000	0.24455	0.333000	0.17304	0.590000	0.31872	0.105000	0.22895	0.000000	0.08366	0.003000	0.05239	0.1951:0.3386:0.4663:0.0	4.853	0.12908	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	37.47	2	chr7	134210113	.	G	A	37.47	.	AC=2;AF=0.167;AN=12;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.74;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	0	4
chr7	134576422	134576422	A	G	exonic	AKR1B15	.	nonsynonymous SNV	AKR1B15:NM_001367820:exon8:c.A817G:p.T273A,AKR1B15:NM_001367821:exon8:c.A733G:p.T245A,AKR1B15:NM_001080538:exon9:c.A817G:p.T273A	.	434	1083	4	1	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00351951629914	0.0042	0.000998403	0.0035	0.0012	0.0034	0.0007	0.0005	0.0049	0.0022	0.0018	0.0033829	523	154602	rs2458502	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0054	0.0007	0.0040	0.0001	0.0004	0.0006	0.0021	0.0056	0.0035	0.0018	0.0034	0.0034	0.0034	0.0034	0.0055	0.0032	0.0031	0.0051	0.0049	0.0008	0	0.0050	0.0009	0	0.0008	0.0034	0.0055	0.0061	0.0019	0.367	0.11659	T	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.63	0.02141	N	2.35	0.16217	T	-0.42	0.14193	N	0.196	0.21580	-0.9850	0.33832	T	0.009	0.03359	T	9	0.017938107	0.00386	T	0.00352	0.08000	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.2964700184060892	0.29560	0.0411031891715	0.04411	0.271098166704	0.06284	T	.	.	.	-0.747944	0.00018	T	-0.84342	0.01048	T	0.00570585781265705	0.00062	T	0.431557	0.11736	T	.	.	.	.	.	.	.	.	-4.391	0.29435	T	.	.	0.059	0.00861	B	.;.	.;.	-1.991821	0.00103	0.002	0.2796300991337714	0.01413	0.00840	0.03368	N	AEFBI	0.031874	0.03493	N	-1.97895522058099	0.00235	0.01006105	-2.05578042454384	0.00232	0.01024356	0.999835651868481	0.43792	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.46	-6.91	0.01490	-6.766000	0.00067	-7.385000	0.01168	-2.373000	0.00302	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2716:0.2406:0.3777:0.1102	2.407	0.04145	754	0.51307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1301.43	45	chr7	134576422	.	A	G	1301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.657;DP=490;ExcessHet=0;FS=1.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.481;SOR=0.606	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1313,0,1837	9	0	1	0
chr7	142160207	142160207	G	A	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon21:c.G2294A:p.R765Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.0722054183428	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909961815	9.085e-06	7.952e-06	7.924e-06	1.007e-05	1.578e-05	2.66e-06	1.93e-06	5.62e-06	3.36e-06	0	0	0	0	0	0	1.578e-05	0	0	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.94	0.73378	D	0.808	0.80375	-0.1538	0.78822	T	0.399	0.75073	T	4	0.9428916	0.93614	D	0.072205	0.71470	D	0.514	0.79217	0.875	0.96581	0.184867976434	0.18130	0.9339809722311773	0.93377	.	.	.	.	.	0.786393	0.94408	D	0.40846	0.90397	D	0.374128	0.91222	D	0.964952170848846	0.67117	D	.	.	.	0.1319006	0.30729	0.22518742	0.47456	0.1319006	0.30729	0.22518742	0.47455	-10.601	0.77425	D	.	.	0.527	0.65793	A	.	.	5.848090	0.93807	33	0.99955301720204859	0.99969	0.98251	0.80941	D	AEFI	0.847342	0.76420	D	0.459849266071545	0.64763	4.738422	0.523276463463817	0.69559	5.377797	0.995219883497634	0.34009	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	8.039000	0.89191	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	17.267	0.86975	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1020.43	36	chr7	142160207	.	G	A	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.92;DP=422;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.163;SOR=0.85	GT:AD:DP:GQ:PL	0/1:66,39:105:99:1032,0,1565	9	0	1	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q,TMEM139:NM_153345:exon2:c.G245A:p.R82Q,TMEM139:NM_001242773:exon3:c.G245A:p.R82Q,TMEM139:NM_001242775:exon3:c.G245A:p.R82Q,TMEM139:NM_001282877:exon3:c.G245A:p.R82Q,TMEM139:NM_001242774:exon4:c.G245A:p.R82Q	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	.	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	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	0.005051	0.009511	0.008772	0.000000	0.008621	0.012195	0.003788	0.05	932.43	38	chr7	143286202	.	G	A	932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.4;SOR=0.616	GT:AD:DP:GQ:PL	0/1:31,32:63:99:944,0,781	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|1:96,23:119:99:0|1:143478290_A_G:220,0,3214:143478290	4	0	6	0
chr7	144187123	144187123	G	C	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.C1261G:p.L421V,ARHGEF35:NM_001368318:exon2:c.C1261G:p.L421V	.	441	1064	17	0	0	17	0.00792541	.	.	.	2823292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0030	0.00119808	0.0059	0.0014	0.0041	0.0002	0.0048	0.0100	0.0042	0.0008	0.003357	519	154602	rs200777966	0.0039	0.0042	0.0040	0.0038	0.0091	0.0038	0.0038	0.0070	0.0063	0.0009	0.0024	0.0023	5.054e-05	0.0034	0.0091	0.0045	0.0040	0.0009	0.0027	0.0031	0.0030	0.0024	0.0044	0.0025	0.0024	0.0040	0.0038	0.0009	0	0.0015	0.0030	0	0.0024	0.0072	0.0044	0.0060	0.0004	0.112	0.28900	T	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	.	.	.	-1.72	0.40850	N	0.049	0.02088	-1.0317	0.19905	T	0.057	0.24092	T	8	0.004467815	0.00092	T	.	.	.	0.064	0.18567	.	.	0.0482279557977	0.04254	0.013045466199505439	0.01262	1.1666736912	0.79651	.	.	.	0.038618	0.24903	T	-0.637492	0.00086	T	-0.686432	0.06597	T	0.00445636160050083	0.00048	T	0.392661	0.09777	T	0.064548075	0.13706	0.05295596	0.08825	0.064548075	0.13705	0.05295596	0.08825	-4.147	0.25980	T	.	.	0.107	0.20196	B	.	.	-1.332221	0.00411	0.008	0.72315887758835451	0.09931	0.00603	0.02688	N	AEFI	0.056296	0.10394	N	-1.67525973034684	0.00933	0.0404088	-1.79071861659118	0.00789	0.03522002	2.65246824704526E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	2.34	-4.67	0.03080	-1.148000	0.03295	-0.063000	0.12399	-0.699000	0.04065	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.3886:0.2006:0.4109:0.0	4.126	0.09595	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013125	0.000000	0.019499	0.008929	0.000000	0.018519	0.008000	0.009009	0.05	377.43	34	chr7	144187123	.	G	C	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.616;DP=364;ExcessHet=0;FS=5.442;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.09;MQRankSum=1.65;QD=5.55;ReadPosRankSum=2.06;SOR=1.497	GT:AD:DP:GQ:PL	0/1:47,21:68:99:389,0,1207	9	0	1	0
chr7	144187825	144187825	C	G	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.G559C:p.E187Q,ARHGEF35:NM_001368318:exon2:c.G559C:p.E187Q	.	612	876	28	3	3	37	0.019037	.	.	.	2337684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00169180372267	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs201944335	0.0064	0.0077	0.0062	0.0067	0.0139	0.0063	0.0062	0.0106	0.0094	0.0013	0.0022	0.0056	2.667e-05	0.0096	0.0139	0.0072	0.0067	0.0056	0.0051	0.0057	0.0047	0.0055	0.0070	0.0047	0.0045	0.0063	0.0061	0.0013	0.0031	0.0014	0.0081	0	0.0116	0.0165	0.0070	0.0068	0.0041	0.119	0.28026	T	0.0	0.92824	D	0.979	0.59044	D	0.569	0.49832	P	.	.	.	.	1	0.08975	N	0.115	0.08564	N	.	.	.	-1.12	0.28906	N	0.056	0.02759	-1.0508	0.14175	T	0.050	0.21143	T	8	0.0052297115	0.00114	T	0.001692	0.02805	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.012538113747808237	0.01212	1.20996141533	0.80807	.	.	.	0.027401	0.20077	T	-0.324106	0.06567	T	-0.703332	0.05646	T	0.0263475960612305	0.01452	T	0.441056	0.12198	T	0.04931713	0.08737	0.02897034	0.01186	0.04931713	0.08736	0.02897034	0.01186	-3.608	0.17973	T	.	.	0.142	0.31253	B	.	.	0.000811	0.04287	1.074	0.82756175661562648	0.14358	0.02487	0.06962	N	AEFI	0.047717	0.08064	N	-0.732376235384541	0.15117	0.7590086	-0.930539775724398	0.11375	0.5791232	1.16699438665459E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.63	-0.617	0.10999	-0.845000	0.04448	-0.671000	0.07934	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.5001:0.0:0.4999	5.246	0.14812	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	267.43	34	chr7	144187825	.	C	G	267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.971;DP=226;ExcessHet=0;FS=3.821;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=25;MQRankSum=0;QD=12.16;ReadPosRankSum=1.09;SOR=0.223	GT:AD:DP:GQ:PL	0/1:10,12:22:99:279,0,221	9	0	1	0
chr7	144374835	144374835	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon11:c.G4244A:p.R1415H	.	462	1039	21	0	0	21	0.0100048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	.	.	.	0.0080	0.0013	0.0042	0.0026	0.0110	0.0105	0.0071	0.0092	0.0006147	16	26028	rs200961550	0.0043	0.0063	0.0044	0.0043	0.0075	0.0042	0.0041	0.0052	0.0049	0.0009	0.0014	0.0017	0.0024	0.0047	0.0075	0.0051	0.0042	0.0026	0.0039	0.0061	0.0039	0.0039	0.0059	0.0037	0.0035	0.0054	0.0052	0.0011	0.0071	0.0017	0.0027	0.0025	0.0065	0.0075	0.0059	0.0028	0.0035	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.979904	0.39610	D	2.075	0.57047	M	-2.27	0.87433	D	-4.2	0.77965	D	0.296	0.33469	-0.4397	0.70740	T	0.348	0.71265	T	10	0.012568891	0.00270	T	.	.	.	0.561	0.82003	.	.	0.824091401722	0.82242	0.5768530586280034	0.57614	.	.	0.68102478981	0.64415	T	0.35032	0.71805	T	0.117721	0.66143	D	-0.0686785	0.65721	T	0.0219139906017615	0.00899	T	0.929907	0.74113	D	0.5335882	0.69034	0.41468868	0.65605	0.5335882	0.69035	0.41468868	0.65605	-9.133	0.68549	D	.	.	0.364	0.57460	A	.;.	.;.	5.639534	0.92734	33	0.99912501162681988	0.98167	0.90887	0.52449	D	AEFI	0.618592	0.60434	D	0.247242073902422	0.53501	3.518827	0.236437274447454	0.51882	3.366989	0.0191690049949025	0.13135	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	5.211000	0.65052	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.462000	0.28163	0.0:0.0:1.0:0.0	17.092	0.86500	953	0.10115	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011440	0.010638	0.008403	0.006098	0.100000	0.000000	0.026087	0.004545	0.05	92.43	39	chr7	144374835	.	G	A	92.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=259;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.84;MQRankSum=0.605;QD=2.89;ReadPosRankSum=-1.3;SOR=0.09	GT:AD:DP:GQ:PL	0/1:25,7:32:99:104,0,692	9	0	1	0
chr7	151016131	151016133	CTC	-	exonic	ATG9B	.	nonframeshift deletion	ATG9B:NM_001317056:exon12:c.2623_2625del:p.E875del	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.000599042	0.0017	0	0	0	0	0.0007	0	0.0047	0.0002264	35	154602	rs575751217	0.0004	0.0004	0.0002	0.0005	0.0036	0.0003	0.0003	0.0032	0.0031	3.185e-05	0.0001	0	0	4.1e-05	0.0027	0.0002	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0002	0.0034	0.0029	4.814e-05	0	0.0005	0	0	9.418e-05	0	0.0002	0.0005	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2129.39	34	chr7	151016130	.	TCTC	T	2129.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.746;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.18;ReadPosRankSum=2.14;SOR=0.747	GT:AD:DP:GQ:PL	0/1:42,54:96:99:2141,0,1581	9	0	1	0
chr7	152248140	152248140	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon14:c.A2294G:p.E765G	.	414	990	118	0	0	118	0.056244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	.	0.0302	0.0363	0.0099	0.0104	0.0305	0.0277	0.0379	0.0610	0.0002305	6	26028	rs202098135	6.94e-06	0.0013	1.382e-06	1.255e-05	3.545e-05	3.51e-06	2.56e-06	9.42e-06	4.61e-06	0	2.26e-05	0	0	0	0	4.565e-06	1.676e-05	3.545e-05	2.645e-05	0.0017	0	5.412e-05	7.298e-05	8.18e-06	5.17e-06	1.935e-05	1.036e-05	7.298e-05	0	6.568e-05	0	0	0	0	0	0	0	0.004	0.68238	D	.	.	.	0.06	0.23119	B	0.018	0.18489	B	0.000267	0.46590	D	0.000000	0.84987	0.35204	D	2.38	0.68558	M	-1.93	0.84919	D	-3.01	0.62518	D	0.21	0.23380	-0.5589	0.66446	T	0.389	0.74327	T	10	0.004967302	0.00106	T	.	.	.	0.213	0.50496	.	.	.	.	0.4837393690712426	0.48293	0.0330274093867	0.03452	0.340184807777	0.16466	T	0.358057	0.72467	T	0.0232051	0.54813	T	-0.204444	0.54224	T	0.0378793499843809	0.03311	T	0.818018	0.47523	T	0.14122255	0.32550	0.16089383	0.37452	0.14122255	0.32549	0.16089383	0.37451	-4.695	0.33343	T	0.399851985512444	0.49182	0.086	0.10883	B	.;.	.;.	2.783319	0.36570	20.3	0.99485148167057358	0.67124	0.93407	0.58135	D	AEFGBI	0.154510	0.27954	N	-0.430237841499609	0.24415	1.318133	-0.330419226512641	0.27121	1.502754	0.958528990205834	0.28368	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.68	4.53	0.55009	2.762000	0.47278	1.545000	0.27254	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.326000	0.25110	0.0:0.1446:0.0:0.8554	8.793	0.34025	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	0.058409	0.106061	0.028533	0.055556	0.050000	0.051724	0.060976	0.049242	0.05	173.43	38	chr7	152248140	.	T	C	173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.72;DP=936;ExcessHet=0;FS=38.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.89;MQRankSum=-5.476;QD=1.03;ReadPosRankSum=-0.875;SOR=5.311	GT:AD:DP:GQ:PL	0/1:150,18:168:99:185,0,4567	9	0	1	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I,MCPH1:NM_001172574:exon8:c.G1390A:p.V464I,MCPH1:NM_001322042:exon8:c.G1390A:p.V464I,MCPH1:NM_001322043:exon8:c.G1384A:p.V462I,MCPH1:NM_001322045:exon8:c.G1288A:p.V430I,MCPH1:NM_001363979:exon8:c.G1390A:p.V464I,MCPH1:NM_001363980:exon8:c.G1390A:p.V464I,MCPH1:NM_024596:exon8:c.G1390A:p.V464I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2346.43	34	chr8	6445112	.	G	A	2346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.73;SOR=0.658	GT:AD:DP:GQ:PL	0/1:75,92:167:99:2358,0,1677	9	0	1	0
chr8	9088538	9088538	G	A	exonic	ERI1	.	nonsynonymous SNV	ERI1:NM_001354638:exon7:c.G886A:p.G296R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0501198	.	.	.	.	.	.	.	.	0.0175196	456	26028	rs80164148	0	0.0003	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0088	0.0089	0.0080	0.0096	0.1829	0.0084	0.0082	0.1732	0.1693	0.0013	0	0.0026	0.0009	0.1829	0.0008	0	0.0027	0.0109	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	37.6	.	chr8	9088538	.	G	A	37.6	.	AC=2;AF=0.167;AN=12;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.8;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	0	4
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4086.3	104	chr8	10609944	.	A	G	4086.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.723;DP=2045;ExcessHet=2.8389;FS=208.044;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-0.301;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,67:279:99:.:.:456,0,7077:.	2	0	5	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	G	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,123:283:99:.:.:2513,0,4037:.	3	0	3	4
chr8	17957605	17957605	G	A	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon12:c.G1870A:p.E624K,PCM1:NM_001352652:exon12:c.G1870A:p.E624K,PCM1:NM_001315507:exon13:c.G1870A:p.E624K,PCM1:NM_001315508:exon13:c.G1873A:p.E625K,PCM1:NM_001352634:exon13:c.G1870A:p.E624K,PCM1:NM_001352639:exon13:c.G1870A:p.E624K,PCM1:NM_001352640:exon13:c.G1873A:p.E625K,PCM1:NM_001352641:exon13:c.G1870A:p.E624K,PCM1:NM_001352644:exon13:c.G1870A:p.E624K,PCM1:NM_001352646:exon13:c.G1870A:p.E624K,PCM1:NM_001352649:exon13:c.G1873A:p.E625K,PCM1:NM_001352651:exon13:c.G1987A:p.E663K,PCM1:NM_001352654:exon13:c.G1870A:p.E624K,PCM1:NM_001352658:exon13:c.G1870A:p.E624K,PCM1:NM_006197:exon13:c.G1870A:p.E624K,PCM1:NM_001352632:exon14:c.G1987A:p.E663K,PCM1:NM_001352636:exon14:c.G1990A:p.E664K,PCM1:NM_001352637:exon14:c.G1987A:p.E663K,PCM1:NM_001352643:exon14:c.G1987A:p.E663K,PCM1:NM_001352655:exon14:c.G1870A:p.E624K,PCM1:NM_001352635:exon15:c.G1873A:p.E625K,PCM1:NM_001352638:exon15:c.G1987A:p.E663K,PCM1:NM_001352642:exon15:c.G1870A:p.E624K,PCM1:NM_001352645:exon15:c.G1870A:p.E624K,PCM1:NM_001352648:exon15:c.G1873A:p.E625K,PCM1:NM_001352653:exon15:c.G1870A:p.E624K,PCM1:NM_001352656:exon15:c.G1870A:p.E624K,PCM1:NM_001352657:exon15:c.G1870A:p.E624K,PCM1:NM_001352633:exon16:c.G1987A:p.E663K,PCM1:NM_001352650:exon16:c.G1987A:p.E663K	.	1	1495	26	0	0	26	0.00862069	.	.	.	751049	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.106	0.00681394270651	0.0003	0.000798722	0.0023	0	0.0033	0.0005	0	0.0007	0	0.0076	0.0009832	152	154602	rs200548498	0.0007	0.0007	0.0005	0.0009	0.0101	0.0007	0.0007	0.0080	0.0073	0.0002	0.0004	0	0	1.953e-05	0.0101	0.0003	0.0007	0.0077	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	2.406e-05	0	0.0011	0	0	0	0.0034	0.0003	0.0028	0.0087	0.306	0.39334	T	0.021	0.58089	D	0.89	0.48942	P	0.419	0.45047	B	0.013640	0.28781	N	0.426089	0.985317	0.40266	D	.	.	.	3.4	0.19450	T	-1.44	0.41809	N	0.427	0.57604	-1.1540	0.00911	T	0.069	0.28346	T	10	0.005885303	0.00132	T	0.006814	0.18010	T	0.106	0.30130	.	.	0.518858945281	0.51528	0.057921824756811104	0.05733	.	.	0.425548821688	0.28600	T	0.028726	0.20742	T	-0.447732	0.01164	T	-0.411067	0.32103	T	0.0327865182706198	0.02435	T	0.973003	0.90628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.30049	B	.;.;.;.;.	.;.;.;.;.	4.307470	0.65821	24.9	0.99789681366376193	0.87572	0.92451	0.55742	D	AEFBI	0.281370	0.39496	N	0.382420225242975	0.60468	4.236178	0.430501876940594	0.63474	4.581818	0.999999154729193	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.206000	0.58271	10.023000	0.83142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.920	0.86031	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	0	0	1	0	0.008081	0.005051	0.004076	0.005917	0.000000	0.008621	0.009202	0.022727	0.05	1377.43	40	chr8	17957605	.	G	A	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.9;DP=496;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.132;SOR=0.779	GT:AD:DP:GQ:PL	0/1:70,48:118:99:1389,0,1845	9	0	1	0
chr8	18222696	18222696	T	G	exonic	NAT1	.	nonsynonymous SNV	NAT1:NM_001160174:exon1:c.T649G:p.F217V,NAT1:NM_000662:exon3:c.T649G:p.F217V,NAT1:NM_001160171:exon4:c.T649G:p.F217V,NAT1:NM_001160173:exon4:c.T649G:p.F217V,NAT1:NM_001160176:exon4:c.T835G:p.F279V,NAT1:NM_001160170:exon5:c.T649G:p.F217V,NAT1:NM_001160172:exon5:c.T649G:p.F217V,NAT1:NM_001160175:exon5:c.T835G:p.F279V,NAT1:NM_001160179:exon5:c.T649G:p.F217V,NAT1:NM_001291962:exon6:c.T835G:p.F279V	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0261605364514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171885310	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.007	0.69154	D	0.99	0.73220	D	0.957	0.74843	D	0.000004	0.62929	D	0.062472	0.999974	0.53665	D	4.04	0.96988	H	4.2	0.02689	T	-5.88	0.89152	D	0.635	0.65330	-1.0277	0.21200	T	0.055	0.23375	T	10	0.9755274	0.97305	D	0.026161	0.49088	D	0.309	0.63055	0.933	0.98990	0.403469152278	0.39964	0.8337172100996877	0.83330	0.0917472706437	0.10355	0.440707713366	0.30673	T	0.319622	0.69089	T	-0.00645039	0.50762	T	-0.247042	0.50108	T	0.982955038547516	0.74805	D	0.839416	0.51368	T	0.9388053	0.95125	0.7097968	0.82883	0.9388053	0.95125	0.7097968	0.82884	-11.11	0.80258	D	.	.	0.852	0.81771	P	.;.;.;.;.;.	.;.;.;.;.;.	3.835576	0.55468	23.6	0.96384372317559464	0.29630	0.97279	0.73757	D	AEFBI	0.593672	0.58890	D	0.466709007220709	0.65156	4.787349	0.233830297838367	0.51734	3.353444	0.98836189474093	0.31492	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.21	4.21	0.48984	5.729000	0.68186	0.199000	0.15831	0.609000	0.47794	1.000000	0.71638	0.004000	0.18990	0.699000	0.34110	0.0:0.0:0.0:1.0	11.536	0.49892	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	.	.	.	.	.	.	.	.	0.05	1889.43	35	chr8	18222696	.	T	G	1889.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.527;SOR=0.698	GT:AD:DP:GQ:PL	0/1:80,78:158:99:1901,0,2002	9	0	1	0
chr8	22128966	22128966	G	A	exonic	HR	.	nonsynonymous SNV	HR:NM_005144:exon2:c.C205T:p.P69S,HR:NM_018411:exon2:c.C205T:p.P69S	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	700521	Alopecia_universalis_congenita|Atrichia_with_papular_lesions|not_provided	MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701|MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.250	0.112876543762	0.0032	0.00119808	0.0032	0.0013	0.0010	0	0.0005	0.0051	0.0022	0.0013	0.0033829	523	154602	rs78621054	0.0041	0.0041	0.0040	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0007	0.0019	0.0049	0	0.0007	0.0014	0.0048	0.0035	0.0012	0.0033	0.0033	0.0034	0.0031	0.0056	0.0030	0.0029	0.0051	0.0049	0.0011	0	0.0018	0.0046	0	0.0008	0	0.0056	0.0057	0.0012	0.002	0.72154	D	0.063	0.46862	T	0.518	0.53479	P	0.197	0.49494	B	0.000399	0.44960	D	0.000000	0.750033	0.29647	N	1.935	0.51832	L	-1.04	0.76819	T	-1.77	0.48523	N	0.143	0.20660	-0.4936	0.68879	T	0.304	0.67519	T	10	0.005213022	0.00113	T	0.112877	0.79118	D	0.250	0.55888	.	.	0.781890309608	0.77987	0.4244157769453769	0.42358	0.182285795037	0.20492	0.338969171047	0.16284	T	0.171531	0.51969	T	-0.406894	0.02085	T	-0.355471	0.38575	T	0.0321359294420155	0.02327	T	0.742826	0.36203	T	0.14140585	0.32585	0.20665391	0.44889	0.12563503	0.29446	0.25754553	0.51472	-4.008	0.23923	T	.	.	0.082	0.13923	B	.;.	.;.	1.192078	0.15836	12.14	0.98610206724257632	0.43625	0.63247	0.32030	D	AEFDGBCI	0.213305	0.33890	N	-0.095966645408073	0.37570	2.187617	-0.0637433459907197	0.36901	2.153549	0.999974625569855	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.8	2.95	0.33285	0.200000	0.17055	2.085000	0.30516	-0.126000	0.13398	0.099000	0.22773	1.000000	0.68203	0.450000	0.27895	0.0964:0.0:0.7207:0.183	6.247	0.20030	589	0.68969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1371.43	36	chr8	22128966	.	G	A	1371.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.366;DP=432;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.095;SOR=0.9	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1383,0,1587	9	0	1	0
chr8	22618717	22618717	A	T	exonic	CCAR2	.	nonsynonymous SNV	CCAR2:NM_001363068:exon18:c.A2318T:p.E773V,CCAR2:NM_001363069:exon18:c.A2318T:p.E773V,CCAR2:NM_021174:exon18:c.A2321T:p.E774V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0191005616374	0.0002	.	0.0001	0	8.645e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs148552616	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	8.944e-05	0	0	3.758e-05	0.0002	0.0004	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.243e-05	0.0002	0.0001	7.241e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.038	0.49613	D	0.02	0.60337	D	0.567	0.50336	P	0.165	0.50368	B	0.166267	0.17509	N	0.588384	0.886262	0.38770	D	1.525	0.38595	L	7.64	0.00350	T	-2.76	0.67014	D	0.417	0.51761	-0.7137	0.59771	T	0.231	0.59719	T	10	0.22674897	0.39538	T	0.019101	0.41369	T	0.205	0.49236	.	.	0.409859612472	0.40601	0.5529503573762466	0.55221	0.226598177082	0.25209	0.435814201832	0.30004	T	0.434995	0.78188	T	-0.204167	0.20205	T	-0.223631	0.52386	T	0.205322984583608	0.20706	T	0.864713	0.56210	D	0.1321704	0.30785	0.102173455	0.24481	0.1321704	0.30785	0.102173455	0.24480	-7.096	0.54732	T	.	.	0.234	0.52293	B	.;.;.;.	.;.;.;.	3.881232	0.56413	23.7	0.97965287417514091	0.37209	0.94405	0.61061	D	AEFBCI	0.687731	0.64898	D	0.217256695686896	0.52036	3.380369	0.270604539578497	0.53831	3.550179	0.999999832072361	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.97	5.97	0.96935	5.892000	0.69531	11.197000	0.88883	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	1.0:0.0:0.0:0.0	12.839	0.57175	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1508.43	33	chr8	22618717	.	A	T	1508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.285;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.443;SOR=0.733	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1520,0,2029	9	0	1	0
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.013587	0.005848	0.000000	0.017241	0.003049	0.003788	0.05	1625.43	34	chr8	24442522	.	G	T	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.703;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.238;SOR=0.75	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1637,0,1463	9	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	808.82	36	chr8	28527857	.	A	C	808.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.38;DP=1118;ExcessHet=0.2348;FS=452.524;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=2.9;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,52:181:99:.:.:592,0,2816:.	3	0	2	5
chr8	30138668	30138668	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon2:c.G208A:p.A70T	.	399	1115	7	1	0	9	0.00401965	.	.	.	2343134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00988486693314	.	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0005	7.76e-05	12	154602	rs140611326	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0011	0.0009	3.166e-05	0.0003	0	5.597e-05	0	0.0020	0.0002	0.0006	0.0009	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.404e-05	0	0.0002	0	0.0004	0	0	0.0003	0	0.0010	0.536	0.06891	T	0.035	0.52389	D	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.0	0.21473	T	-0.77	0.21429	N	0.071	0.04426	-0.9866	0.33445	T	0.025	0.10553	T	8	0.016070753	0.00338	T	0.009885	0.25743	T	0.022	0.04323	.	.	0.259761712551	0.25597	0.05550857490642651	0.05491	.	.	0.357490837574	0.19020	T	0.046899	0.27563	T	-0.59457	0.00157	T	-0.732151	0.04231	T	0.00242045335812812	0.00025	T	0.356464	0.08103	T	0.023786988	0.01148	0.0514782	0.08293	0.023786988	0.01148	0.0514782	0.08292	-4.342	0.28761	T	.	.	0.074	0.05231	B	.	.	-0.404907	0.02194	0.218	0.75288118324513909	0.11017	0.01933	0.05892	N	AEFDBI	0.038420	0.05435	N	-1.63626779289465	0.01094	0.0474943	-1.68882355205312	0.01187	0.0534474	0.999998776367226	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.44	-5.04	0.02742	-0.012000	0.12637	-3.978000	0.02415	-2.803000	0.00184	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.3006:0.2561:0.0:0.4434	5.121	0.14195	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007128	0.006250	0.008403	0.000000	0.000000	0.000000	0.005263	0.000000	0.05	2233.43	114	chr8	30138668	.	C	T	2233.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=986;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.127;SOR=0.775	GT:AD:DP:GQ:PL	0/1:49,83:132:99:2245,0,1112	9	0	1	0
chr8	31058542	31058542	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon2:c.A95G:p.K32R	Werner syndrome, Autosomal recessive	4	1513	5	0	0	5	0.00164962	0.9915	0.7	YES	139162	Werner_syndrome|not_specified|not_provided	MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0156390117289	0.0030	0.00119808	0.0037	0.0010	0.0016	0	0.0006	0.0060	0	0.0009	0.0006727	104	154602	rs34477820	0.0039	0.0040	0.0039	0.0040	0.0048	0.0039	0.0038	0.0047	0.0046	0.0007	0.0018	0.0003	5.048e-05	0.0013	0.0012	0.0048	0.0031	0.0009	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0050	0.0048	0.0008	0	0.0027	0.0009	0	0.0005	0.0068	0.0054	0.0019	0.0002	0.017	0.51248	D	0.02	0.58613	D	0.704	0.41950	P	0.277	0.40197	B	0.023392	0.26452	N	0.299988	0.991981	0.23953	N	2.36	0.67893	M	0.59	0.53943	T	-1.58	0.38151	N	0.208	0.23125	-0.9045	0.47504	T	0.152	0.48032	T	10	0.0048146844	0.00102	T	0.015639	0.36485	T	0.105	0.29889	.	.	0.749798479323	0.74753	0.5153133627811298	0.51454	0.27939505312	0.30432	0.373518764973	0.21335	T	0.296694	0.66932	T	-0.439409	0.01304	T	-0.401484	0.33211	T	0.0308317523910558	0.02119	T	0.693931	0.30359	T	0.10012978	0.23639	0.1253447	0.30204	0.10012978	0.23639	0.1253447	0.30203	-4.32	0.28457	T	.	.	0.086	0.10642	B	.	.	4.401468	0.68008	25.2	0.99827197569984416	0.90939	0.98093	0.79538	D	AEFBI	0.390853	0.46952	N	0.155038185658775	0.49051	3.109867	0.149972573789508	0.47139	2.948793	0.999651471211587	0.41424	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.87	3.68	0.41359	5.788000	0.68670	7.800000	0.69123	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.8395:0.0:0.0:0.1605	9.727	0.39508	840	0.37365	.	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	1271.43	33	chr8	31058542	.	A	G	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.005;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.75;SOR=0.629	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1283,0,749	9	0	1	0
chr8	61665358	61665358	C	T	exonic	ASPH	.	nonsynonymous SNV	ASPH:NM_032467:exon5:c.G526A:p.V176I,ASPH:NM_020164:exon6:c.G571A:p.V191I	Traboulsi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0064425074672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.588	0.08273	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	-0.23	0.10656	N	0.026	0.01577	-1.0337	0.19268	T	0.077	0.30859	T	8	0.027572304	0.00901	T	0.006443	0.16956	T	0.037	0.09474	0.355	0.35571	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.353548	0.04508	T	-0.745624	0.03659	T	0.0657105011039665	0.08036	T	0.328667	0.06851	T	.	.	.	.	.	.	.	.	-4.137	0.25833	T	.	.	0.064	0.01668	B	.;.	.;.	-0.798591	0.01110	0.050	0.547070304875103	0.05192	0.01380	0.04701	N	AEFGBHCI	0.040630	0.06071	N	-1.51919248489233	0.01723	0.075441	-1.65772242563516	0.01336	0.06031871	0.999999999954531	0.74766	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.3	-8.6	0.00773	-3.076000	0.00678	-4.461000	0.02144	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.2067:0.6007:0.0:0.1925	9.918	0.40615	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	37.52	35	chr8	61665358	.	C	T	37.52	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.408;DP=583;ExcessHet=0.2348;FS=145.19;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.96;SOR=7.523	GT:AD:DP:GQ:PL	0/1:88,15:108:10:10,0,1687	8	0	2	0
chr8	67105905	67105905	T	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon6:c.T168G:p.S56R,CSPP1:NM_001364870:exon7:c.T951G:p.S317R,CSPP1:NM_001363131:exon8:c.T942G:p.S314R,CSPP1:NM_001363133:exon8:c.T942G:p.S314R,CSPP1:NM_024790:exon8:c.T1050G:p.S350R,CSPP1:NM_001363132:exon9:c.T1023G:p.S341R,CSPP1:NM_001364869:exon9:c.T1131G:p.S377R,CSPP1:NM_001382391:exon9:c.T1023G:p.S341R	Joubert syndrome 21, Autosomal recessive	430	1091	1	0	0	1	0.000458085	0.0001	0.152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0273802146661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.917	0.39799	T	0.942	0.57405	P	0.563	0.49647	P	0.006314	0.32122	N	0.272597	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.69	0.20145	N	0.321	0.36148	-0.7964	0.55356	T	0.214	0.57468	T	9	0.15428585	0.29105	T	0.02738	0.50196	D	0.069	0.20116	.	.	0.394384168047	0.39052	0.09017730564918405	0.08950	0.140679475827	0.15870	0.39053183794	0.23745	T	.	.	.	-0.0992519	0.36549	T	-0.380345	0.35682	T	0.321059554815292	0.25865	T	0.70353	0.31362	T	.	.	.	.	.	.	.	.	-3.864	0.21764	T	.	.	0.269	0.50352	B	.;.	.;.	0.841514	0.12131	8.683	0.9817436409206044	0.38890	0.02804	0.07527	N	AEFBI	0.052678	0.09426	N	-0.835364276564482	0.12413	0.6049091	-0.962412582701977	0.10636	0.5369504	0.744447307038152	0.23263	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.59	-2.79	0.05494	-0.045000	0.11957	.	.	-0.191000	0.09375	0.085000	0.22462	0.000000	0.08366	0.031000	0.13245	0.1416:0.2187:0.1455:0.4942	1.212	0.01792	429	0.80881	.;.	.	.	.	.	.	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	776.43	33	chr8	67105905	.	T	G	776.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.335;DP=389;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=1.2;SOR=0.463	GT:AD:DP:GQ:PL	0/1:41,37:78:99:788,0,992	9	0	1	0
chr8	73552155	73552155	T	C	exonic	STAU2	.	nonsynonymous SNV	STAU2:NM_001164383:exon8:c.A871G:p.T291A,STAU2:NM_001164385:exon10:c.A1273G:p.T425A,STAU2:NM_001164382:exon11:c.A1075G:p.T359A,STAU2:NM_001164384:exon11:c.A1291G:p.T431A,STAU2:NM_001164381:exon12:c.A1291G:p.T431A,STAU2:NM_014393:exon12:c.A1291G:p.T431A,STAU2:NM_001164380:exon13:c.A1387G:p.T463A	.	.	.	.	.	.	.	.	.	.	.	2217453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00662923856107	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs145795257	5.336e-05	5.336e-05	5.99e-05	4.676e-05	0.0002	4.344e-05	4.018e-05	5.248e-05	4.823e-05	0	0	3.827e-05	2.52e-05	0	0.0002	6.476e-05	3.312e-05	1.159e-05	4.6e-05	4.596e-05	5.138e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.393	0.16574	T	0.695	0.28120	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.62929	D	0.098617	0.989469	0.42444	D	0.895	0.22405	L	0.53	0.55090	T	-0.85	0.41809	N	0.293	0.37093	-1.0796	0.07426	T	0.081	0.31913	T	10	0.080525994	0.13080	T	0.006629	0.17501	T	0.095	0.27398	.	.	0.0675242888579	0.06100	0.40939452534728277	0.40855	0.25520024391	0.28107	0.425389230251	0.28578	T	0.008045	0.14853	T	-0.341115	0.05311	T	-0.468085	0.25723	T	0.0289996426475553	0.01838	T	0.487251	0.28590	T	0.047288023	0.08058	0.05570383	0.09822	0.047288023	0.08058	0.05570383	0.09821	-2.6	0.10010	T	.	.	0.063	0.02370	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.898157	0.24109	16.27	0.90007651411578504	0.19298	0.76502	0.37525	D	AEFDGIJ	0.148356	0.27222	N	-0.409414175954376	0.25137	1.362413	-0.24361333460125	0.29992	1.68489	0.999998035121315	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	4.6	3.41	0.38145	1.154000	0.31299	1.085000	0.23927	0.665000	0.62972	0.971000	0.34370	0.987000	0.30940	1.000000	0.97212	0.0:0.1561:0.1612:0.6827	4.952	0.13370	804	0.43891	Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, 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	837.43	35	chr8	73552155	.	T	C	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.442;DP=372;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.647;SOR=0.317	GT:AD:DP:GQ:PL	0/1:27,32:59:99:849,0,721	9	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.15	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	0/1:39,38:77:99:977,0,1029	7	0	3	0
chr8	103420402	103420402	A	G	exonic	DCAF13	.	nonsynonymous SNV	DCAF13:NM_015420:exon2:c.A209G:p.N70S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0177484670439	0.0015	0.000199681	0.0014	0.0004	0.0005	0.0001	0.0008	0.0022	0.0011	0.0002	0.001423	220	154602	rs13272825	0.0017	0.0017	0.0018	0.0017	0.0021	0.0017	0.0016	0.0020	0.0020	0.0004	0.0005	0.0002	0.0002	0.0006	0.0012	0.0021	0.0017	0.0004	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0006	0	0.0003	0.0003	0	9.425e-05	0	0.0017	0.0014	0	0.503	0.07670	T	0.481	0.14075	T	0.064	0.23455	B	0.038	0.23361	B	0.000000	0.84330	D	0.090221	0.999311	0.46639	D	-1.03	0.01126	N	0.19	0.60236	T	0.04	0.06488	N	0.275	0.32370	-1.0872	0.06013	T	0.071	0.29066	T	10	0.01860571	0.00406	T	0.017748	0.39570	T	0.045	0.12272	.	.	0.529561333529	0.52604	0.4257326183448963	0.42490	0.0967568649598	0.10922	0.560001075268	0.47268	T	0.003746	0.03958	T	-0.49593	0.00603	T	-0.491621	0.23221	T	0.0212475976220162	0.00826	T	0.872513	0.71541	D	0.29449278	0.52406	0.23502992	0.48736	0.29449278	0.52406	0.23502992	0.48735	-4.587	0.36425	T	.	.	0.067	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	1.486098	0.19121	14.10	0.94931024665374897	0.25816	0.94541	0.61500	D	AEFBI	0.573374	0.57658	D	-0.399219737703088	0.25497	1.384503	-0.159701770009637	0.33036	1.885619	0.99999607333064	0.74766	0.744818	0.98587	0	0.662677	0.63036	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.26	4.09	0.47038	4.840000	0.62513	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9272:0.0:0.0728:0.0	11.148	0.47667	339	0.86048	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	1337.43	35	chr8	103420402	.	A	G	1337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=455;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.26;SOR=0.828	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1349,0,1354	9	0	1	0
chr8	120548788	120548788	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon5:c.C1307T:p.A436V	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.0678769026873	0.0062	0.000998403	0.0051	0.0014	0.0048	0	0.0003	0.0073	0.0044	0.0035	0.005705	882	154602	rs61762674	0.0087	0.0087	0.0089	0.0085	0.0105	0.0086	0.0085	0.0104	0.0103	0.0012	0.0040	0.0003	0	0.0013	0.0036	0.0105	0.0069	0.0033	0.0050	0.0050	0.0052	0.0047	0.0089	0.0047	0.0046	0.0083	0.0081	0.0018	0	0.0029	0.0003	0	0.0009	0.0034	0.0089	0.0052	0.0017	0.151	0.24564	T	0.332	0.18449	T	0.887	0.48784	P	0.541	0.48869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	-1.98	0.85247	D	-3.05	0.62976	D	0.912	0.91391	-0.2678	0.75871	T	0.428	0.77055	T	10	0.052652776	0.05332	T	0.067877	0.70290	D	0.544	0.81018	.	.	0.775274093175	0.77321	0.6525711085955409	0.65193	.	.	0.479424625635	0.35977	T	0.446651	0.78922	T	0.0103242	0.53070	T	0.25373	0.85793	D	0.0413831671940031	0.03942	T	0.89781	0.64256	D	0.29604852	0.52548	0.29344627	0.55373	0.29604852	0.52548	0.29344627	0.55372	-7.658	0.58715	D	.	.	0.363	0.57405	A	.;.	.;.	4.730905	0.76202	26.5	0.99333251194066097	0.59856	0.99422	0.95828	D	AEFGBI	0.929128	0.91441	D	0.244254377398568	0.53356	3.504763	0.261916397613154	0.53330	3.50251	0.999999999992855	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.68	5.68	0.88021	10.003000	0.99689	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:0.0:1.0:0.0	19.800	0.96501	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.05	2065.43	35	chr8	120548788	.	G	A	2065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.82;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.41;SOR=0.722	GT:AD:DP:GQ:PL	0/1:68,83:151:99:2077,0,1676	9	0	1	0
chr8	124565686	124565686	A	G	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001282974:exon9:c.T800C:p.M267T,MTSS1:NM_001363294:exon9:c.T800C:p.M267T,MTSS1:NM_001363295:exon9:c.T800C:p.M267T,MTSS1:NM_001363298:exon9:c.T800C:p.M267T,MTSS1:NM_001363300:exon9:c.T800C:p.M267T,MTSS1:NM_001363301:exon9:c.T800C:p.M267T,MTSS1:NM_001363302:exon9:c.T800C:p.M267T,MTSS1:NM_014751:exon9:c.T800C:p.M267T,MTSS1:NM_001282971:exon10:c.T812C:p.M271T,MTSS1:NM_001363296:exon10:c.T812C:p.M271T,MTSS1:NM_001363297:exon10:c.T812C:p.M271T,MTSS1:NM_001363299:exon10:c.T812C:p.M271T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0109698175887	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs913749061	9.577e-06	9.577e-06	9.529e-06	9.626e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.457	0.10588	T	0.787	0.17696	T	0.458	0.57829	P	0.137	0.52216	B	0.000000	0.84330	D	0.049187	1	0.81001	D	1.975	0.53506	M	1.55	0.42888	T	-1.47	0.41809	N	0.478	0.52029	-0.9999	0.29945	T	0.132	0.44307	T	10	0.19711292	0.35630	T	0.01097	0.28104	T	0.151	0.39764	0.18	0.08751	0.409859612472	0.40601	0.49194119063207203	0.49115	1.00756453028	0.74644	0.779864788055	0.78907	T	0.356903	0.72369	T	0.0767426	0.61657	D	-0.127541	0.61179	T	0.628982603549957	0.37576	D	0.849315	0.64861	T	0.342657	0.56490	0.23602745	0.48863	0.342657	0.56490	0.23602745	0.48862	-7.158	0.64030	T	.	.	0.241	0.55896	B	.;.;.;.;.;.	.;.;.;.;.;.	4.644170	0.73970	26.1	0.98242524392341968	0.39494	0.97493	0.75105	D	AEFDGBI	0.769966	0.70505	D	0.19089959364987	0.50763	3.263206	0.295209892778343	0.55258	3.689123	0.999999980137467	0.74766	0.730579	0.87903	0	0.547309	0.14657	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.2	5.2	0.71720	4.840000	0.62513	11.059000	0.85411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.376	0.74324	904	0.23766	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1052.43	33	chr8	124565686	.	A	G	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.748;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.52;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1064,0,1332	9	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	426.43	45	chr8	125009277	.	A	G	426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.523;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.605;SOR=0.693	GT:AD:DP:GQ:PL	0/1:22,20:42:99:438,0,485	9	0	1	0
chr8	143720714	143720714	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon9:c.C791T:p.T264M	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0004	0.00579073	0.0057	0.0004	0.0424	0.0142	0.0103	0.0009	0.0016	0.0009	0.0041138	636	154602	rs146609910	0.0017	0.0017	0.0019	0.0016	0.0250	0.0016	0.0016	0.0238	0.0233	0.0005	0.0250	0.0004	0.0160	0.0066	0.0012	0.0002	0.0012	0.0003	0.0024	0.0024	0.0021	0.0026	0.0131	0.0022	0.0021	0.0106	0.0097	0.0006	0	0.0094	0.0006	0.0131	0.0085	0	0.0004	0.0005	0	0.232	0.18184	T	0.252	0.23570	T	0.968	0.56581	D	0.827	0.59428	P	0.003222	0.35241	N	0.273852	1	0.08975	N	1.645	0.42016	L	0.92	0.44461	T	-3.04	0.62863	D	0.267	0.30233	-1.0188	0.24106	T	0.064	0.26385	T	10	0.006958276	0.00158	T	.	.	.	0.093	0.26882	.	.	0.630531396591	0.62751	0.4058061931261441	0.40496	0.146378424685	0.16520	0.515318334103	0.40968	T	0.09621	0.39779	T	-0.609485	0.00128	T	-0.627988	0.10568	T	0.0446910830741326	0.04546	T	.	.	.	0.033374816	0.03544	0.05719384	0.10352	0.033374816	0.03543	0.05719384	0.10352	-9.074	0.68172	D	.	.	0.093	0.14201	B	.	.	2.404202	0.30891	18.58	0.99378876076603795	0.61803	0.60511	0.31216	D	AEFDGBCI	0.106464	0.21241	N	-0.387458348644193	0.25914	1.410391	-0.586124975877535	0.19854	1.067125	0.999989639172983	0.51787	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.77	-0.642	0.10909	0.909000	0.28180	.	.	-0.960000	0.01985	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1688:0.469:0.1645:0.1977	1.510	0.02344	895	0.25842	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3554.14	33	chr8	143720714	.	C	T	3554.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.43;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.38;SOR=0.688	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1826,0,1329	8	0	2	0
chr8	143918969	143918969	T	C	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.A10810G:p.M3604V,PLEC:NM_201379:exon32:c.A10786G:p.M3596V,PLEC:NM_201380:exon32:c.A11263G:p.M3755V,PLEC:NM_201381:exon32:c.A10756G:p.M3586V,PLEC:NM_201382:exon32:c.A10852G:p.M3618V,PLEC:NM_201383:exon32:c.A10864G:p.M3622V,PLEC:NM_201384:exon32:c.A10852G:p.M3618V,PLEC:NM_000445:exon33:c.A10933G:p.M3645V	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	.	.	.	.	.	.	.	.	.	.	636664	not_provided|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MedGen:C3661900|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.110025468239	7.7e-05	0.000199681	7.555e-05	0.0004	0	0.0004	0	1.527e-05	0	6.06e-05	6.47e-05	10	154602	rs376442504	1.92e-05	2.052e-05	1.092e-05	2.756e-05	0.0002	1.331e-05	1.146e-05	9.928e-05	7.224e-05	0.0001	0.0001	0	0.0002	0	0	5.396e-06	3.313e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.278e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.04	0.42487	D	0.022	0.59732	D	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.84330	U	0.000000	0.999867	0.50061	D	0.89	0.21648	L	-1.24	0.79277	T	-1.48	0.36586	N	0.375	0.49237	-0.7372	0.58596	T	0.266	0.63695	T	10	0.14361328	0.27263	T	0.110025	0.78724	D	0.268	0.58254	.	.	0.707087877747	0.70453	0.748091437906144	0.74755	.	.	0.77140390873	0.77635	T	0.097761	0.40091	T	-0.208309	0.19617	T	-0.206997	0.53981	T	0.021950599449496	0.00903	T	0.884911	0.60954	D	0.2510183	0.48107	0.3246395	0.58386	0.2510183	0.48107	0.3246395	0.58385	-4.006	0.23893	T	0.5682943679152643	0.63561	0.671	0.71783	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.887086	0.23966	16.22	0.85837446686517049	0.16144	0.94726	0.62119	D	AEFDGBCI	0.733909	0.68020	D	-0.267258554041449	0.30420	1.696059	-0.138061801779062	0.33871	1.942141	0.999999413052442	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.35	3.18	0.35615	4.967000	0.63433	.	.	-0.120000	0.14102	1.000000	0.71638	0.998000	0.33993	0.005000	0.06747	0.0:0.0848:0.0:0.9152	9.694	0.39313	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	.	.	.	.	.	.	.	.	0.05	6849.43	231	chr8	143918969	.	T	C	6849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.01;DP=1979;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.975;SOR=0.698	GT:AD:DP:GQ:PL	0/1:321,292:613:99:6861,0,8242	9	0	1	0
chr8	143924276	143924276	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5611A:p.A1871T,PLEC:NM_201379:exon31:c.G5587A:p.A1863T,PLEC:NM_201380:exon31:c.G6064A:p.A2022T,PLEC:NM_201381:exon31:c.G5557A:p.A1853T,PLEC:NM_201382:exon31:c.G5653A:p.A1885T,PLEC:NM_201383:exon31:c.G5665A:p.A1889T,PLEC:NM_201384:exon31:c.G5653A:p.A1885T,PLEC:NM_000445:exon32:c.G5734A:p.A1912T	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	2	1514	6	0	0	6	0.00197759	.	.	.	266524	not_specified|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|not_provided	MedGen:CN169374|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.280	.	8e-05	0.00878594	0.0044	0.0001	0.0081	0.0308	0.0085	0.0010	0.0041	0.0014	0.0035122	543	154602	rs201070741	0.0020	0.0020	0.0020	0.0020	0.0429	0.0019	0.0019	0.0412	0.0405	0.0002	0.0062	0.0004	0.0429	0.0064	0.0007	0.0003	0.0025	0.0018	0.0026	0.0026	0.0023	0.0029	0.0374	0.0024	0.0023	0.0331	0.0314	0.0002	0	0.0022	0.0006	0.0374	0.0093	0	0.0006	0.0009	0.0037	0.081	0.37118	T	0.111	0.40110	T	1.0	0.90584	D	0.997	0.86255	D	0.009276	0.30438	U	0.190729	0.948955	0.37631	D	1.265	0.31966	L	-2.87	0.91478	D	-1.14	0.29727	N	0.551	0.58713	0.350	0.88331	D	0.625	0.86821	D	10	0.0057498217	0.00128	T	.	.	.	0.280	0.59740	.	.	0.764658292166	0.76251	0.4453153047724098	0.44449	.	.	0.514962077141	0.40918	T	0.099441	0.40426	T	-0.262414	0.12619	T	-0.127404	0.61189	T	0.0134982564548392	0.00247	T	0.961704	0.85587	D	0.05939172	0.12065	0.1413768	0.33669	0.06742676	0.14600	0.12342586	0.29761	-6.068	0.47809	T	0.15679323834645156	0.18889	0.082	0.09433	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.518538	0.32539	19.07	0.98784902344472714	0.46190	0.37148	0.25696	N	AEFDBCI	0.224221	0.34847	N	0.0441907962732565	0.43876	2.672049	-0.0912094851581915	0.35752	2.072	0.999999967902569	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	1.095000	0.30575	.	.	0.584000	0.30380	0.344000	0.25709	0.998000	0.33993	0.419000	0.27206	0.0:1.0:0.0:0.0	15.989	0.79977	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.002523	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.007576	0.05	2205.43	47	chr8	143924276	.	C	T	2205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.701;DP=606;ExcessHet=0;FS=0.562;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.743;SOR=0.769	GT:AD:DP:GQ:PL	0/1:84,90:174:99:2217,0,1887	9	0	1	0
chr8	144317564	144317564	C	T	exonic	DGAT1	.	nonsynonymous SNV	DGAT1:NM_012079:exon12:c.G961A:p.E321K	.	412	1107	3	0	0	3	0.00135318	.	.	.	1496977	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.829	0.279053805273	.	.	0.0002	0	0.0015	0	0	1.501e-05	0.0022	0	0.0001294	20	154602	rs782473207	3.421e-05	3.42e-05	3.268e-05	3.576e-05	0.0010	2.632e-05	2.375e-05	0.0008	0.0007	0	0.0010	0	0	0	0.0002	1.799e-06	4.968e-05	0	1.315e-05	1.314e-05	2.57e-05	0	0.0001	2.19e-06	8.2e-07	2.264e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.345	0.91022	M	.	.	.	.	.	.	0.888	0.88687	0.331	0.88037	D	0.587	0.85176	D	10	0.7060068	0.72742	D	0.279054	0.90164	D	.	.	0.674	0.81200	0.576245406411	0.57293	0.828360222609323	0.82794	.	.	0.717919409275	0.69744	T	0.634444	0.88712	D	0.17101	0.71217	D	0.409489	0.92415	D	0.662914395332336	0.39024	D	.	.	.	0.55302376	0.70124	0.34580886	0.60258	0.5980379	0.72587	0.37414548	0.62586	-12.216	0.85887	D	.	.	0.986	0.92555	P	.	.	5.291676	0.88845	29.8	0.99930530220529057	0.99334	0.99307	0.94267	D	AEFDGBHCI	0.803446	0.72858	D	0.774207482580139	0.84469	8.296566	0.690832719841779	0.81681	7.584188	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	4.165000	0.57984	7.390000	0.58507	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	16.376	0.83226	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2335.43	37	chr8	144317564	.	C	T	2335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=503;ExcessHet=0;FS=11.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.404;SOR=0.681	GT:AD:DP:GQ:PL	0/1:89,93:182:99:2347,0,2046	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	0/1:76,60:136:99:1532,0,1993	8	0	2	0
chr8	144932518	144932518	G	T	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.C269A:p.A90E,ZNF16:NM_001029976:exon4:c.C269A:p.A90E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00125334710863	.	.	9.081e-05	0	0	0.0003	0	0.0001	0	6.07e-05	7.76e-05	12	154602	rs767098172	5.472e-05	5.472e-05	5.445e-05	5.5e-05	0.0002	4.477e-05	4.147e-05	0.0001	8.775e-05	0	0	0	0.0002	0	0.0002	5.665e-05	1.656e-05	6.956e-05	5.256e-05	5.253e-05	5.138e-05	5.38e-05	0.0004	2.557e-05	1.83e-05	7.299e-05	3.032e-05	0	0	6.544e-05	0	0	0	0	7.349e-05	0	0.0004	1.0	0.27544	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.16	0.50459	T	0.09	0.56945	N	0.126	0.12484	-1.0069	0.27881	T	0.039	0.16634	T	9	0.026155263	0.00789	T	0.001253	0.01683	T	0.133	0.36157	0.33	0.31519	0.0986583533028	0.09354	0.03691962009681974	0.03638	0.0848295226273	0.09583	0.258186757565	0.04677	T	0.001365	0.00832	T	-0.413686	0.01879	T	-0.539859	0.18310	T	0.0135514783243321	0.00249	T	0.128287	0.13351	T	0.0744182	0.16699	0.08126513	0.18454	0.0744182	0.16699	0.08126513	0.18454	-2.231	0.04194	T	.	.	0.088	0.30555	B	.;.;.;.;.	.;.;.;.;.	-0.068594	0.03831	0.821	0.20694797771256412	0.00755	0.03939	0.09336	N	AEFDGBI	0.041532	0.06327	N	-1.28325630360223	0.03876	0.1739792	-1.27299471794795	0.04799	0.2272319	0.343129968308414	0.19604	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.24	-2.5	0.06015	-0.965000	0.03939	-0.051000	0.12545	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.528000	0.29660	0.2704:0.2438:0.2215:0.2643	0.105	0.00047	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	1250.43	33	chr8	144932518	.	G	T	1250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.431;DP=453;ExcessHet=0;FS=4.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.149;SOR=0.666	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1262,0,1258	9	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	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	0.009063	0.025253	0.006793	0.014620	0.000000	0.000000	0.009146	0.000000	0.05	3130.43	35	chr9	12821696	.	T	C	3130.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=573;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.75;SOR=0.69	GT:AD:DP:GQ:PL	0/1:123,120:243:99:3142,0,3157	9	0	1	0
chr9	14819330	14819330	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon14:c.G2450A:p.R817Q,FREM1:NM_144966:exon15:c.G2450A:p.R817Q	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	901649	Oculotrichoanal_syndrome|not_provided|BNAR_syndrome|Trigonocephaly_2	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.00688707000834	0.0002	0.000199681	0.0002	0	0.0005	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs200495440	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0004	0.0047	5.039e-05	0	0	3.868e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.713e-05	5.278e-05	2.833e-05	2.406e-05	0	0.0002	0.0040	0	0	0	7.351e-05	0	0	0.95	0.02146	T	0.75	0.04807	T	0.002	0.09854	B	0.001	0.04355	B	0.002279	0.36887	N	0.334638	1	0.08975	N	-1.475	0.00530	N	1.86	0.24285	T	0.56	0.02680	N	0.057	0.06059	-0.9868	0.33396	T	0.013	0.04890	T	10	0.0051345825	0.00111	T	0.006887	0.18233	T	0.065	0.18881	.	.	0.202086224978	0.19791	0.23678240275522044	0.23593	.	.	0.202627420425	0.00537	T	0.032119	0.22347	T	-0.601328	0.00143	T	-0.779576	0.02466	T	0.0172645698358052	0.00468	T	0.69823	0.30825	T	0.018402983	0.00361	0.027829597	0.00966	0.018402983	0.00361	0.027829597	0.00966	-5.192	0.38860	T	0.05973637893199889	0.01594	0.069	0.03231	B	.;.	.;.	0.356926	0.07298	3.906	0.48709830075915678	0.04087	0.02258	0.06533	N	AEFBI	0.046612	0.07758	N	-0.999623590294994	0.08612	0.404448	-0.820096600458647	0.14008	0.7297653	0.0379390555732823	0.14322	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.86	3.52	0.39415	1.477000	0.35039	-0.413000	0.09334	-0.190000	0.09434	0.979000	0.35152	0.000000	0.08366	0.001000	0.02609	0.1376:0.0777:0.1435:0.6412	3.245	0.06394	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	895.43	34	chr9	14819330	.	C	T	895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=429;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.335;SOR=0.984	GT:AD:DP:GQ:PL	0/1:50,37:87:99:907,0,1271	9	0	1	0
chr9	15211306	15211306	C	T	exonic	TTC39B	.	nonsynonymous SNV	TTC39B:NM_001168341:exon3:c.G367A:p.G123S,TTC39B:NM_001168342:exon3:c.G79A:p.G27S,TTC39B:NM_001168339:exon5:c.G574A:p.G192S,TTC39B:NM_001168340:exon5:c.G574A:p.G192S,TTC39B:NM_152574:exon5:c.G574A:p.G192S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0421623752176	7.7e-05	.	1.7e-05	9.647e-05	0	0	0	1.523e-05	0	0	1.94e-05	3	154602	rs149019264	1.745e-05	1.847e-05	1.527e-05	1.965e-05	2.091e-05	1.198e-05	1.012e-05	1.392e-05	1.163e-05	0	0	0	0	1.884e-05	0	2.091e-05	1.688e-05	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.013	0.54683	D	0.072	0.43531	T	.	.	.	.	.	.	0.000002	0.62929	D	0.059222	1	0.81001	D	2.695	0.78878	M	1.0	0.41392	T	-0.42	0.14978	N	0.564	0.59816	-0.5860	0.65380	T	0.275	0.64629	T	10	0.44618478	0.58411	T	0.042162	0.60319	D	0.100	0.28662	.	.	0.38342384377	0.37955	0.6559990771203544	0.65535	0.303624687715	0.32687	0.587440729141	0.51133	T	0.021804	0.16921	T	-0.130186	0.31467	T	-0.238876	0.50907	T	0.502900736840678	0.32735	D	0.962104	0.85685	D	0.1812165	0.39280	0.19688584	0.43442	0.1812165	0.39280	0.19688584	0.43441	-7.651	0.58813	D	.	.	0.633	0.73041	P	.;.;.;.;.	.;.;.;.;.	5.090261	0.84994	28.5	0.99892371659028978	0.96589	0.96376	0.68836	D	AEFDGBHCI	0.908754	0.86448	D	0.659926063580848	0.77011	6.593626	0.679631119304114	0.80834	7.387928	1.0	0.98316	0.743674	0.98306	0	0.61073	0.52368	0	0.601832	0.32385	0	0.584449	0.35598	0	.	.	5.78	5.78	0.91418	7.876000	0.85623	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.665000	0.33109	0.0:1.0:0.0:0.0	19.607	0.95579	859	0.33891	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1218.43	33	chr9	15211306	.	C	T	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=420;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.756;SOR=0.56	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1230,0,1603	9	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P,CNTLN:NM_017738:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	217.4	41	chr9	17394900	.	T	C	217.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.079;DP=643;ExcessHet=0.2348;FS=212.351;InbreedingCoeff=-0.1223;MLEAC=2;MLEAF=0.1;MQ=59.96;MQRankSum=0;QD=1.27;ReadPosRankSum=0.043;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,19:97:54:.:.:54,0,1572:.	8	0	2	0
chr9	32632666	32632666	C	A	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G2914T:p.V972L	.	1	1495	25	1	0	27	0.00894929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00114923500467	0.0004	0.00159744	0.0011	0	0.0006	0	0.0002	0.0005	0.0022	0.0054	0.0009379	145	154602	rs55906071	0.0006	0.0006	0.0004	0.0008	0.0053	0.0005	0.0005	0.0049	0.0047	5.974e-05	0.0003	0.0005	0	1.872e-05	0.0012	0.0003	0.0008	0.0053	0.0005	0.0005	0.0003	0.0008	0.0068	0.0004	0.0004	0.0050	0.0044	2.406e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0.0005	0.0068	0.251	0.17069	T	0.39	0.15506	T	0.774	0.44062	P	0.688	0.53700	P	0.000065	0.52346	D	0.128609	0.991491	0.41402	D	1.39	0.34934	L	2.54	0.13916	T	-1.72	0.40850	N	0.214	0.23884	-1.0907	0.05416	T	0.040	0.17106	T	10	0.011918902	0.00258	T	0.001149	0.01434	T	0.076	0.22200	0.33	0.31519	0.434497104326	0.43071	0.5761475823034826	0.57543	0.160340197242	0.18093	0.434875428677	0.29876	T	0.024099	0.18273	T	-0.586404	0.00176	T	-0.614289	0.11639	T	0.0889325541787246	0.11090	T	0.978502	0.92407	D	0.088748306	0.20713	0.084431216	0.19421	0.088748306	0.20713	0.084431216	0.19421	-10.86	0.78884	D	.	.	0.246	0.48008	B	.	.	4.105717	0.61250	24.3	0.98614182156046493	0.43677	0.50292	0.28629	D	AEFBI	0.231861	0.35502	N	-0.0545285893600003	0.39400	2.322896	-0.160507617366261	0.33005	1.883559	0.95158353292811	0.27966	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.04	-0.0542	0.13145	3.648000	0.54150	7.452000	0.58971	0.243000	0.18268	0.996000	0.39380	1.000000	0.68203	0.913000	0.44837	0.0:0.7269:0.0:0.2731	4.943	0.13327	836	0.38045	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	1757.43	43	chr9	32632666	.	C	A	1757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=518;ExcessHet=0;FS=6.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.194;SOR=0.555	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1769,0,2363	9	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.15	4120.45	36	chr9	34093402	.	G	A	4120.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.601;DP=613;ExcessHet=0.7463;FS=5.481;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.184;SOR=0.964	GT:AD:DP:GQ:PL	0/1:74,39:113:99:900,0,1863	7	0	3	0
chr9	77247315	77247315	G	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon20:c.G1957T:p.A653S,VPS13A:NM_001018038:exon20:c.G1957T:p.A653S,VPS13A:NM_015186:exon20:c.G1957T:p.A653S,VPS13A:NM_033305:exon20:c.G1957T:p.A653S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0115127104807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294055057	1.373e-06	2.052e-06	0	2.76e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.34621	T	0.362	0.30534	T	0.121	0.26708	B	0.036	0.26451	B	0.000034	0.55875	D	0.119571	0.999986	0.54805	D	1.025	0.25523	L	0.61	0.53516	T	-1.07	0.31981	N	0.262	0.29659	-1.0234	0.22606	T	0.119	0.41713	T	10	0.17469022	0.32361	T	0.011513	0.29207	T	0.058	0.16647	0.661	0.79894	0.596289430357	0.59307	0.6724149351495822	0.67179	0.133449264394	0.15028	0.443638324738	0.31074	T	0.164415	0.50986	T	-0.051462	0.44225	T	-0.311698	0.43476	T	0.38830971743434	0.28500	T	0.864413	0.56401	D	0.1291693	0.30177	0.12831485	0.30873	0.1291693	0.30176	0.12831485	0.30872	-6.531	0.50525	T	.	.	0.121	0.24967	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.876115	0.38048	20.6	0.99303229652254554	0.58722	0.95365	0.64436	D	AEFBI	0.492485	0.52910	N	0.0703128589379383	0.45082	2.770749	0.252740625024719	0.52803	3.452931	0.999986895086554	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	2.982000	0.49027	5.014000	0.46692	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1339:0.8661:0.0	16.082	0.80820	826	0.39940	.;.;VPS13, repeated coiled region;.;.;.;VPS13, repeated coiled region	.	.	.	.	.	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	1598.43	34	chr9	77247315	.	G	T	1598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.152;SOR=0.767	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1610,0,1180	9	0	1	0
chr9	77295818	77295818	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon32:c.A3667G:p.I1223V,VPS13A:NM_001018038:exon33:c.A3784G:p.I1262V,VPS13A:NM_015186:exon33:c.A3784G:p.I1262V,VPS13A:NM_033305:exon33:c.A3784G:p.I1262V	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3795633	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00393376072711	.	.	2.491e-05	0	0	0	0	3.006e-05	0	6.064e-05	1.94e-05	3	154602	rs766063874	5.473e-06	5.472e-06	1.361e-06	9.627e-06	1.159e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.14996	T	0.793	0.04155	T	0.001	0.12183	B	0.002	0.18783	B	0.023512	0.26429	N	0.347814	0.850312	0.28506	N	1.42	0.35681	L	2.74	0.11730	T	-0.3	0.12661	N	0.166	0.30233	-0.9610	0.38993	T	0.017	0.06807	T	10	0.059349507	0.07121	T	0.003934	0.09274	T	0.030	0.07022	0.409	0.44395	0.126345400529	0.12197	0.4058718258763962	0.40503	0.106865737165	0.12070	0.345787465572	0.17300	T	0.161873	0.50631	T	-0.384775	0.02906	T	-0.693625	0.06181	T	0.0267854375409409	0.01514	T	0.694431	0.30434	T	0.024248667	0.01238	0.032922506	0.02105	0.024248667	0.01238	0.032922506	0.02104	-3.599	0.17842	T	.	.	0.071	0.03811	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.748318	0.11177	7.817	0.57463526817156696	0.05775	0.17334	0.19792	N	AEFBI	0.057378	0.10682	N	-1.0101002539611	0.08394	0.3933935	-0.91260570262717	0.11796	0.6031503	0.0487290325396525	0.14779	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.17	-0.986	0.09728	1.370000	0.33843	0.665000	0.20538	-0.050000	0.17177	0.838000	0.30254	0.004000	0.18990	0.983000	0.59808	0.4634:0.0:0.5366:0.0	10.217	0.42350	755	0.51144	.;.;.;.;.;.;.	.	.	.	.	.	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	826.43	33	chr9	77295818	.	A	G	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.057;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.317;SOR=0.648	GT:AD:DP:GQ:PL	0/1:13,30:43:99:838,0,275	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|1:58,19:77:99:0|1:86018822_G_C:143,0,1373:86018822	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	0/1:165,112:298:99:419,0,2468	0	0	10	0
chr9	94320521	94320521	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1055T:p.A352V	.	444	1075	3	0	0	3	0.0013934	.	.	.	3352606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00153274722433	0.0004	.	0.0005	0	0.0004	0	0	0.0007	0.0012	0.0006	0.0004204	65	154602	rs200093724	0.0003	0.0003	0.0003	0.0003	0.0029	0.0003	0.0003	0.0017	0.0013	2.994e-05	0.0004	0.0056	5.038e-05	1.881e-05	0.0029	0.0002	0.0007	0.0005	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0001	9.899e-05	0	0	0	0.0060	0	0	0	0.0002	0.0005	0.0004	0.53	0.22400	T	0.598	0.28120	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	2.78	0.11947	T	-0.29	0.26843	N	0.129	0.12341	-0.9823	0.34468	T	0.022	0.09467	T	9	0.005663842	0.00126	T	0.001533	0.02394	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.03919068401637067	0.03865	.	.	0.380668848753	0.22351	T	6.64E-4	0.00291	T	-0.61487	0.00118	T	-0.778263	0.02507	T	0.00561401504082442	0.00061	T	0.449655	0.12671	T	0.019409144	0.00471	0.029585129	0.01313	0.019409144	0.00471	0.029585129	0.01313	-7.584	0.58199	D	.	.	0.080	0.07602	B	.;.	.;.	-0.007846	0.04228	1.039	0.61334315276356288	0.06683	0.00354	0.01821	N	AEFI	0.031894	0.03500	N	-1.60033334962432	0.01263	0.05494734	-1.67554149356455	0.01249	0.05630762	1.82899882011972E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.195	-0.39	0.11830	-0.839000	0.04475	.	.	-0.349000	0.05595	0.000000	0.06391	.	.	0.003000	0.05239	0.3195:0.0:0.3429:0.3376	1.464	0.02257	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	295.43	36	chr9	94320521	.	G	A	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.415;DP=300;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=56.01;MQRankSum=-1.041;QD=8.21;ReadPosRankSum=2.14;SOR=0.954	GT:AD:DP:GQ:PL	0/1:23,13:36:99:307,0,690	9	0	1	0
chr9	95508310	95508310	T	A	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_000264:exon1:c.A52T:p.S18C,PTCH1:NM_001354918:exon1:c.A52T:p.S18C	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1934223	Gorlin_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.244	0.587185741406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.005e-06	4.105e-06	0	8.211e-06	8.744e-05	1.17e-06	8.5e-07	3.385e-05	2.153e-05	0	0	0	0	0	0	0	0	8.744e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.042	0.50226	D	0.025	0.19245	B	0.012	0.16012	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.71	0.90566	D	-0.26	0.11185	N	0.123	0.11483	-0.7241	0.59259	T	0.419	0.76476	T	9	0.107210785	0.19905	T	0.587186	0.96321	D	0.244	0.55061	0.325	0.30711	0.41960043425	0.41580	0.4012131813147003	0.40036	0.534996512572	0.50888	0.909535169601	0.97426	D	0.204289	0.56301	T	-0.28552	0.10090	T	-0.319946	0.42580	T	0.0149029916644772	0.00317	T	0.364364	0.08448	T	0.059469163	0.12091	0.068636276	0.14361	0.059469163	0.12091	0.068636276	0.14360	-4.41	0.29693	T	.	.	0.096	0.15160	B	.	.	2.250493	0.28748	17.90	0.83801257912541061	0.14927	0.53848	0.29471	D	AEFDGBHCI	0.196125	0.32312	N	-0.972549002562503	0.09193	0.4340892	-0.906250371987617	0.11947	0.6117139	0.999999736730378	0.74766	0.524318	0.21684	1	0.56911	0.20461	1	0.166054	0.03999	2	0.621717	0.48901	0	.	.	2.52	-0.749	0.10525	0.166000	0.16400	-0.864000	0.07130	0.257000	0.18371	0.151000	0.23669	0.001000	0.17328	0.573000	0.30723	0.0:0.7203:0.0:0.2797	7.701	0.27791	358	0.85037	.	.	.	.	.	.	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	639.43	27	chr9	95508310	.	T	A	639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=292;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.282;SOR=0.638	GT:AD:DP:GQ:PL	0/1:18,21:39:99:651,0,471	9	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	219.55	38	chr9	99218703	.	C	T	219.55	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.051;DP=914;ExcessHet=0.2348;FS=183.52;InbreedingCoeff=-0.1283;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.06;SOR=9.953	GT:AD:DP:GQ:PL	0/1:85,28:113:99:138,0,1994	8	0	2	0
chr9	100586052	100586052	G	T	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G696T:p.E232D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0542952965466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.072	0.43344	T	0.748	0.43202	P	0.391	0.44178	B	0.000339	0.45700	D	0.000000	0.686	0.33281	D	.	.	.	-0.01	0.62762	T	-2.12	0.48184	N	0.643	0.65501	-0.5385	0.67220	T	0.226	0.59058	T	10	0.40179336	0.55619	T	0.054295	0.65801	D	0.209	0.49871	0.314	0.28935	0.176091768786	0.17195	0.12353824256206461	0.12279	0.264892400789	0.29045	0.744064152241	0.73571	T	0.09359	0.39242	T	-0.0186069	0.49052	T	-0.264504	0.48373	T	0.826832354068756	0.48286	D	0.808019	0.45805	T	0.21813367	0.44314	0.1837148	0.41379	0.21813367	0.44314	0.1837148	0.41378	-5.35	0.40435	T	.	.	0.472	0.63258	A	.	.	2.789558	0.36664	20.3	0.99776944694003344	0.86433	0.89682	0.50304	D	AEFBI	0.327484	0.42844	N	-0.13464237117704	0.35889	2.06734	-0.182656827419539	0.32173	1.827842	0.999579504001202	0.40495	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	-0.00478	0.13343	2.437000	0.44487	0.831000	0.21948	-0.802000	0.03151	1.000000	0.71638	0.998000	0.33993	0.484000	0.28656	0.5018:0.0:0.4982:0.0	9.011	0.35302	802	0.44336	.	.	.	.	.	.	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	55.43	34	chr9	100586052	.	G	T	55.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.355;DP=429;ExcessHet=0;FS=61.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.93;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,17:99:67:0|1:100586052_G_T:67,0,3125:100586052	9	0	1	0
chr9	100586054	100586054	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G698C:p.R233T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0694887468699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.056e-05	0.0023	1.122e-05	9.893e-06	1.21e-05	6.34e-06	5.03e-06	6.75e-06	5.2e-06	0	0	3.86e-05	0	0	0	1.21e-05	1.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.014	0.62352	D	0.99	0.63424	D	0.871	0.61869	P	0.000129	0.49741	D	0.000000	0.756557	0.33989	D	.	.	.	0.18	0.60361	T	-2.2	0.49519	N	0.457	0.49420	-0.2468	0.76445	T	0.299	0.67055	T	10	0.46477932	0.59503	T	0.069489	0.70744	D	0.162	0.41843	0.258	0.20002	0.427139414373	0.42328	0.2341529476637619	0.23330	0.308402732697	0.33150	0.728503465652	0.71288	T	0.102534	0.41034	T	0.0341579	0.56277	T	-0.188711	0.55711	T	0.924225926399231	0.58529	D	0.90371	0.66210	D	0.2688615	0.49958	0.31724674	0.57700	0.2688615	0.49958	0.31724674	0.57700	-8.203	0.62445	D	.	.	0.675	0.71929	P	.	.	4.547406	0.71534	25.7	0.98548972411744529	0.42820	0.96446	0.69180	D	AEFBI	0.735174	0.68107	D	0.613299247454443	0.74014	6.061404	0.593538571100228	0.74475	6.143361	0.999999930882717	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	6.577000	0.73916	9.701000	0.81303	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0:0.0:1.0:0.0	16.387	0.83343	802	0.44336	.	.	.	.	.	.	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	52.43	34	chr9	100586054	.	G	C	52.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.747;DP=487;ExcessHet=0;FS=61.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=2.96;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,17:100:64:0|1:100586052_G_T:64,0,3158:100586052	9	0	1	0
chr9	100586055	100586055	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G699C:p.R233S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0829192868762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.307e-05	0.0029	2.591e-05	2.022e-05	0.0002	1.67e-05	1.429e-05	1.949e-05	1.685e-05	6.234e-05	0	0	0	0	0.0002	2.778e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.969	0.56768	D	0.821	0.59116	P	0.000129	0.49741	D	0.000000	0.517869	0.31594	N	.	.	.	0.19	0.60236	T	-1.49	0.36385	N	0.476	0.51137	-0.4964	0.68780	T	0.235	0.60197	T	10	0.47367412	0.60015	T	0.082919	0.74005	D	0.196	0.47777	0.322	0.30226	0.321672782286	0.31767	0.21857767357817443	0.21773	0.277654750267	0.30242	0.7022742033	0.67473	T	0.090632	0.38625	T	0.0182288	0.54142	T	-0.211592	0.53542	T	0.881147146224976	0.53119	D	0.89811	0.64401	D	0.2620145	0.49262	0.23967062	0.49322	0.2620145	0.49262	0.23967062	0.49321	-6.931	0.53529	T	.	.	0.856	0.80106	P	.	.	3.638836	0.51583	23.1	0.9975853377935664	0.84851	0.93365	0.58022	D	AEFBI	0.404018	0.47747	N	0.323277551888876	0.57346	3.901506	0.275658445211492	0.54123	3.578194	0.999929669172451	0.46280	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	2.095000	0.41354	2.423000	0.32696	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	0.2751:0.0:0.7249:0.0	7.494	0.26646	802	0.44336	.	.	.	.	.	.	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	52.43	34	chr9	100586055	.	G	C	52.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.937;DP=526;ExcessHet=0;FS=61.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=2.98;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,17:100:64:0|1:100586052_G_T:64,0,3158:100586052	9	0	1	0
chr9	103005658	103005658	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.G1027A:p.A343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00882713347646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.562	0.09052	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	0.999922	0.19486	N	0	0.06538	N	2.42	0.15376	T	-0.13	0.08971	N	0.054	0.02559	-1.0747	0.08410	T	0.028	0.12147	T	7	0.079550326	0.12809	T	0.008827	0.23294	T	0.072	0.21020	0.227	0.15257	0.154104182512	0.14974	2.2433015140729094E-5	0.00002	0.00232610025833	0.00198	0.331680029631	0.15189	T	0.002921	0.02319	T	-0.407042	0.02080	T	-0.822464	0.01403	T	0.189696347943829	0.19826	T	0.285271	0.05070	T	0.06665097	0.14361	0.14013068	0.33412	0.06665097	0.14361	0.14013068	0.33411	-5.368	0.40611	T	.	.	0.073	0.05317	B	.;.;.	.;.;.	0.218202	0.06011	2.450	0.77601626828840753	0.11944	0.17404	0.19822	N	AEFGI	0.068933	0.13622	N	-0.745841452484906	0.14747	0.7372115	-0.900477734969112	0.12083	0.6194827	3.38153684950379E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.398000	0.07320	0.359000	0.17556	-0.254000	0.07082	0.000000	0.06391	0.652000	0.25970	0.029000	0.12982	.	.	.	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	172.2	36	chr9	103005658	.	G	A	172.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.019;DP=774;ExcessHet=0;FS=137.42;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.455;SOR=7.903	GT:AD:DP:GQ:PL	0/1:144,51:195:99:183,0,2180	8	0	1	1
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	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	0.013609	0.010101	0.010870	0.008772	0.050000	0.008621	0.021472	0.015152	0.1	3990.14	129	chr9	104694845	.	A	G	3990.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.388;DP=1046;ExcessHet=0.2348;FS=1.723;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.78;MQRankSum=1.35;QD=11.05;ReadPosRankSum=0.799;SOR=0.788	GT:AD:DP:GQ:PL	0/1:95,77:172:99:1907,0,2681	8	0	2	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	2408.23	143	chr9	106974250	.	T	C	2408.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.227;DP=1108;ExcessHet=2.8389;FS=252.583;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.41;ReadPosRankSum=2.05;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,43:155:99:0|1:106974250_T_C:536,0,3102:106974250	4	0	5	1
chr9	110800836	110800836	A	G	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.A1198G:p.I400V,MUSK:NM_001166281:exon12:c.A2170G:p.I724V,MUSK:NM_001166280:exon13:c.A2200G:p.I734V,MUSK:NM_005592:exon14:c.A2458G:p.I820V	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0168074123812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.02782	T	1.0	0.01155	T	0.005	0.12996	B	0.027	0.21085	B	0.000005	0.62929	D	0.106321	0.997725	0.44134	D	-0.205	0.04094	N	-1.59	0.82076	D	-0.27	0.11366	N	0.084	0.14905	-0.7256	0.59184	T	0.255	0.62530	T	10	0.15336004	0.28950	T	0.016807	0.38239	T	0.242	0.54781	0.6	0.73105	0.621830897814	0.61876	0.3574911797212814	0.35663	0.137857802033	0.15542	0.41606593132	0.27295	T	0.206198	0.56548	T	-0.0925583	0.37654	T	-0.37073	0.36803	T	0.811839282512665	0.47178	D	0.837116	0.50934	T	0.06685322	0.14423	0.07862274	0.17625	0.06685322	0.14423	0.07862274	0.17625	-1.747	0.02356	T	0.2148973573422226	0.28882	0.273	0.57938	B	.;.;.;.	.;.;.;.	1.955412	0.24836	16.54	0.92816363878119112	0.22343	0.84264	0.43346	D	AEFGBI	0.303897	0.41174	N	-0.309485064409963	0.28787	1.590741	-0.0472363839971343	0.37611	2.204454	0.999933806994181	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.490000	0.53007	5.429000	0.48587	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9262:0.0:0.0738:0.0	11.234	0.48161	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2215.43	38	chr9	110800836	.	A	G	2215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.803;DP=527;ExcessHet=0;FS=3.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.624;SOR=0.961	GT:AD:DP:GQ:PL	0/1:104,94:198:99:2227,0,2594	9	0	1	0
chr9	114331576	114331576	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon4:c.G338A:p.R113Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0059	0.00579073	0.0015	0.0162	0.0005	0	0	3.001e-05	0	6.066e-05	0.001423	220	154602	rs142633392	0.0005	0.0005	0.0006	0.0005	0.0186	0.0005	0.0005	0.0173	0.0169	0.0186	0.0005	0	0	1.872e-05	0.0005	3.598e-05	0.0013	9.276e-05	0.0049	0.0050	0.0051	0.0047	0.0168	0.0046	0.0045	0.0158	0.0153	0.0168	0	0.0022	0	0	0	0	0.0001	0.0038	0.0002	0.417	0.09927	T	0.35	0.17478	T	0.001	0.07471	B	0.001	0.04355	B	0.084964	0.02394	N	1.906400	1	0.08975	N	0.255	0.09829	N	3.14	0.07920	T	-0.56	0.17003	N	0.057	0.02861	-1.0159	0.25045	T	0.009	0.03271	T	10	0.003284514	0.00056	T	.	.	.	0.026	0.05648	.	.	0.0986583533028	0.09354	0.1790685206188053	0.17825	0.0106233313523	0.00978	.	.	.	0.003549	0.02960	T	-0.747746	0.00018	T	-0.832582	0.01217	T	0.00399802169276008	0.00042	T	0.361564	0.08348	T	0.046601556	0.07827	0.06449665	0.12937	0.046601556	0.07827	0.06449665	0.12936	-4.109	0.25423	T	.	.	0.083	0.09336	B	.	.	-2.452587	0.00035	0.001	0.52517849141254735	0.04763	0.00752	0.03125	N	AEFDBCI	0.182820	0.31014	N	-2.26146102077943	0.00056	0.00238746	-2.40678595403585	0.00038	0.00166709	0.999999999999871	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.95	-5.9	0.02087	-4.326000	0.00288	-12.862000	0.00495	-2.044000	0.00422	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.121:0.0928:0.6382:0.148	6.802	0.22938	624	0.65661	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1894.43	43	chr9	114331576	.	G	A	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.73;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.213;SOR=0.736	GT:AD:DP:GQ:PL	0/1:84,77:161:99:1906,0,1836	9	0	1	0
chr9	114406373	114406373	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165C:p.A389P,WHRN:NM_001083885:exon9:c.G1069C:p.A357P,WHRN:NM_001173425:exon9:c.G2218C:p.A740P,WHRN:NM_015404:exon9:c.G2218C:p.A740P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00416941012184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.11120	T	0.818	0.11968	T	0.019	0.17989	B	0.034	0.22546	B	0.000095	0.51296	D	0.131649	0.999967	0.52935	D	1.495	0.37439	L	4.14	0.06291	T	0.56	0.02680	N	0.058	0.06854	-0.9371	0.43072	T	0.013	0.04890	T	10	0.12661639	0.24072	T	0.004169	0.10026	T	0.056	0.15993	0.19	0.10039	0.222439326576	0.21863	0.2356190119927257	0.23476	0.162702542639	0.18360	0.486659765244	0.36976	T	0.043648	0.26569	T	-0.26956	0.11805	T	-0.624981	0.10798	T	0.589373826980591	0.35981	D	0.844815	0.56549	T	0.17356452	0.38112	0.3176821	0.57741	0.17356452	0.38111	0.3176821	0.57741	-3.45	0.15738	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	2.684793	0.35034	19.79	0.83225243468858157	0.14610	0.68447	0.33805	D	AEFDBI	0.175621	0.30280	N	-0.308744411522723	0.28816	1.592539	-0.135753199447611	0.33960	1.948272	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	31.43	99	chr9	114406373	.	C	G	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.928;DP=918;ExcessHet=0;FS=99.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=1.41;SOR=7.168	GT:AD:DP:GQ:PL	0/1:172,35:207:43:43,0,5900	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	0/1:160,35:206:96:.:.:96,0,5752:.	3	0	6	1
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	961.48	240	chr9	114406375	.	C	G	961.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.01;DP=1757;ExcessHet=0.7463;FS=122.086;InbreedingCoeff=-0.1776;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.49;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,35:206:96:.:.:96,0,5752:.	7	0	3	0
chr9	114423486	114423486	G	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon3:c.C401T:p.P134L,WHRN:NM_001083885:exon7:c.C305T:p.P102L,WHRN:NM_001173425:exon7:c.C1454T:p.P485L,WHRN:NM_015404:exon7:c.C1454T:p.P485L	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	54819	Usher_syndrome_type_2D|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_31	MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	.	0.0028	0.00199681	0.0034	0.0011	0.0008	0.0001	0.0178	0.0032	0.0088	0.0031	0.0030983	479	154602	rs79572315	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0033	0.0032	0.0013	0.0007	3.829e-05	0.0001	0.0166	0.0026	0.0027	0.0031	0.0036	0.0035	0.0035	0.0026	0.0046	0.0024	0.0033	0.0032	0.0021	0.0020	0.0015	0	0.0009	0	0.0006	0.0265	0	0.0024	0.0014	0.0021	0.009	0.63226	D	0.196	0.36365	T	0.997	0.77913	D	0.974	0.73157	D	0.000001	0.62929	N	0.058329	1	0.81001	D	2.67	0.78151	M	3.73	0.10674	T	-5.16	0.83422	D	0.765	0.76296	-1.1289	0.01836	T	0.058	0.24204	T	10	0.008380979	0.00190	T	.	.	.	0.244	0.55061	.	.	0.522928537951	0.51938	0.5321338413449586	0.53138	0.506194394545	0.48837	0.606746792793	0.53856	T	0.515533	0.82957	D	-0.379909	0.03120	T	-0.32154	0.42405	T	0.0214574827305478	0.00849	T	0.918008	0.75346	D	0.36924544	0.58529	0.29008386	0.55031	0.32678905	0.55206	0.26182386	0.51965	-9.459	0.75811	D	.	.	0.140	0.34840	B	.;.;.	.;.;.	5.500997	0.91587	32	0.99868317066776546	0.94637	0.98118	0.79751	D	AEFDBI	0.855583	0.77271	D	0.692525358861219	0.79144	7.015778	0.651573562423459	0.78729	6.934922	0.999999996252282	0.74766	0.626454	0.40138	0	0.670034	0.63936	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.3	4.41	0.52588	9.083000	0.93460	9.782000	0.81603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0739:0.0:0.9261:0.0	13.759	0.62441	702	0.57624	.;.;.	.	.	.	.	rs79572315	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1975.43	33	chr9	114423486	.	G	A	1975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.33;SOR=0.73	GT:AD:DP:GQ:PL	0/1:109,83:192:99:1987,0,2592	9	0	1	0
chr9	122567981	122567981	C	T	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.G497A:p.R166H	.	411	1110	1	0	0	1	0.000450248	.	.	.	2678601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00284720031967	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs373426364	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0003	1.997e-05	1.754e-05	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	2.338e-05	0.0001	1.159e-05	3.289e-05	3.284e-05	1.285e-05	5.388e-05	4.41e-05	1.262e-05	7.99e-06	1.171e-05	6.25e-06	2.417e-05	0	0	0	0	9.445e-05	0	4.41e-05	0	0	0.049	0.39820	D	0.117	0.36365	T	0.037	0.20876	B	0.036	0.22909	B	0.020616	0.01536	N	2.578920	1	0.08975	N	1.36	0.34107	L	8.63	0.00155	T	-2.47	0.53898	N	0.041	0.01421	-0.9891	0.32828	T	0.000	0.00152	T	10	0.10308471	0.18931	T	0.002847	0.05986	T	0.033	0.08068	0.585	0.71245	0.117506650769	0.11410	0.14909408764596918	0.14831	0.0922132588364	0.10410	0.168194621801	0.00026	T	0.009957	0.09029	T	-0.516992	0.00458	T	-0.811271	0.01637	T	0.0671330068924307	0.08243	T	0.658834	0.26791	T	0.044203635	0.07024	0.04420983	0.05676	0.044203635	0.07023	0.04420983	0.05676	-4.887	0.35589	T	.	.	0.064	0.02370	B	.;.	.;.	-1.116216	0.00621	0.016	0.83178918993001827	0.14584	0.02945	0.07771	N	AEFGBI	0.060717	0.11559	N	-1.43794936688437	0.02313	0.1019955	-1.55948438697742	0.01911	0.08718438	0.934644011688942	0.27179	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	-8.98	0.00647	-3.138000	0.00648	-20.000000	0.00162	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4193:0.1963:0.0:0.3844	5.884	0.18117	941	0.13089	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1655.43	110	chr9	122567981	.	C	T	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=888;ExcessHet=0;FS=9.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.781;SOR=0.811	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1667,0,1452	9	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,39:316:99:0|1:122724732_T_C:691,0,11347:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,30:298:99:0|1:122724732_T_C:453,0,11163:122724732	3	0	7	0
chr9	127709469	127709469	G	A	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon2:c.G209A:p.R70H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00883925515285	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs372321100	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0	2.237e-05	0	5.038e-05	1.879e-05	0.0009	0.0002	0.0001	0.0008	0.0001	0.0001	6.424e-05	0.0002	0.0002	7.086e-05	5.743e-05	0.0001	8.876e-05	2.406e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0002	0.133	0.26409	T	0.069	0.45961	T	0.516	0.37437	P	0.063	0.27082	B	0.026317	0.25941	N	0.451476	0.998678	0.21993	N	.	.	.	0.92	0.44461	T	-2.15	0.48687	N	0.317	0.35727	-1.0768	0.07983	T	0.065	0.26948	T	10	0.05564767	0.06116	T	0.008839	0.23318	T	0.031	0.07369	.	.	0.519187973786	0.51563	0.25266778676588714	0.25180	0.908210176279	0.70936	.	.	.	0.051506	0.28899	T	-0.434093	0.01401	T	-0.51189	0.21121	T	0.0703867058637956	0.08704	T	0.759724	0.38410	T	0.055521592	0.10801	0.0561324	0.09975	0.055521592	0.10800	0.0561324	0.09974	-6.814	0.57540	T	.	.	0.09	0.12607	B	.;.	.;.	2.818074	0.37116	20.4	0.99607729246223076	0.74634	0.54234	0.29566	D	AEFGBCI	0.120243	0.23432	N	-0.139241537740942	0.35695	2.053498	-0.0551691638916645	0.37267	2.179737	0.999258224189872	0.38906	0.660377	0.49826	0	0.588066	0.40923	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.12	3.22	0.36041	1.303000	0.33075	1.723000	0.28273	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.1876:0.0:0.8124:0.0	8.615	0.32988	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	860.43	34	chr9	127709469	.	G	A	860.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.283;SOR=0.614	GT:AD:DP:GQ:PL	0/1:50,37:87:99:872,0,1115	9	0	1	0
chr9	128634748	128634748	C	G	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1155C:p.Q385H	.	.	.	.	.	.	.	.	.	.	.	2111050	Inborn_genetic_diseases|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0648282193291	0.0002	.	0.0002	0	0	0	0	0.0004	0	0	8.41e-05	13	154602	rs138263531	4.344e-05	4.378e-05	3.974e-05	4.72e-05	0.0003	3.47e-05	3.154e-05	6.115e-05	2.53e-05	0	9.383e-05	0.0015	0	0	0.0003	7.227e-06	0.0002	0	5.911e-05	5.91e-05	3.853e-05	8.066e-05	0.0001	3.076e-05	2.209e-05	2.26e-05	9.07e-06	0	0	0.0001	0.0020	0	0	0	0	0	0	0.044	0.41096	D	0.12	0.35970	T	0.848	0.46844	P	0.722	0.54942	P	0.033298	0.24917	N	0.435352	0.800986	0.34511	D	0.895	0.22405	L	-0.12	0.64630	T	-1.64	0.39314	N	0.444	0.48227	-0.6431	0.63013	T	0.200	0.55541	T	10	0.07377285	0.11190	T	0.064828	0.69397	D	0.123	0.34020	0.434	0.48500	0.575045364607	0.57173	0.3960049347675737	0.39515	0.312824787372	0.33584	0.340353131294	0.16491	T	0.052151	0.29079	T	-0.223371	0.17535	T	-0.377723	0.35988	T	0.0878588128712742	0.10962	T	0.854315	0.54093	D	0.1550096	0.35054	0.110810064	0.26722	0.1550096	0.35054	0.110810064	0.26721	-6.43	0.49744	T	.	.	0.204	0.42920	B	.	.	2.648445	0.34475	19.64	0.99569685253584017	0.72318	0.63718	0.32177	D	AEFDGBCI	0.248822	0.36916	N	0.0595895887776379	0.44585	2.729837	0.0612501213379191	0.42620	2.580985	0.999999918663517	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	3.34	0.37357	0.532000	0.22776	-0.067000	0.12346	0.524000	0.24156	0.998000	0.41325	0.570000	0.25566	0.787000	0.37188	0.0:0.7294:0.1296:0.141	8.416	0.31831	398	0.82839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1417.43	34	chr9	128634748	.	C	G	1417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=425;ExcessHet=0;FS=3.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.21;SOR=1.022	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1429,0,1509	9	0	1	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	663.39	33	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	663.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.41;DP=307;ExcessHet=0;FS=5.022;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.85;SOR=0.189	GT:AD:DP:GQ:PL	0/1:28,18:46:99:675,0,1093	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	0/1:9,9:18:99:.:.:247,0,270:.	6	0	4	0
chr9	135484551	135484551	C	A	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.C41A:p.S14Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0502899856482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.002874	0.35804	N	0.240088	0.999878	0.50225	D	2.62	0.76659	M	1.7	0.26885	T	-4.77	0.83625	D	0.409	0.45992	-0.8259	0.53563	T	0.174	0.51674	T	10	0.3299058	0.50236	T	0.05029	0.64181	D	0.377	0.69527	0.321	0.30064	0.102598925029	0.09809	0.5015087269937312	0.50072	0.704328707761	0.61311	0.67654466629	0.63774	T	0.037059	0.24335	T	0.0807456	0.62127	D	-0.121791	0.61656	T	0.993035395924338	0.83685	D	0.731927	0.34732	T	0.66250914	0.76033	0.69857264	0.82245	0.66250914	0.76034	0.69857264	0.82246	-5.485	0.41728	T	.	.	0.399	0.59499	A	.;.;.;.;.	.;.;.;.;.	4.369740	0.67261	25.1	0.99493914103984449	0.67630	0.99553	0.97372	D	AEFGBI	0.789081	0.71837	D	0.78428010874916	0.85112	8.480197	0.746538326165197	0.85898	8.719922	0.999999999999995	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.227000	0.77548	3.934000	0.40555	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	18.259	0.89968	516	0.74704	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-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	1559.43	34	chr9	135484551	.	C	A	1559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.775;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.907;SOR=0.68	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1571,0,1584	9	0	1	0
chr9	136506947	136506947	C	A	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon23:c.G3670T:p.D1224Y	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	0.334878674417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	1.885	0.50048	L	-3.77	0.95595	D	-7.98	0.96395	D	0.937	0.94314	1.022	0.97565	D	0.909	0.96976	D	10	0.9578195	0.95159	D	0.334879	0.91854	D	0.777	0.92542	0.489	0.57415	0.956377911577	0.95591	.	.	1.3271011008	0.83577	0.573227643967	0.49133	T	0.831514	0.95982	D	0.420475	0.91046	D	0.366207	0.90934	D	0.99607652425766	0.88617	D	0.942906	0.78488	D	0.90211755	0.91573	0.69513464	0.82051	0.90211755	0.91574	0.69513464	0.82052	-12.474	0.87083	D	.	.	.	.	.	.	.	4.273899	0.65055	24.8	0.9886121318070048	0.47476	0.99335	0.94660	D	AEFGBI	0.870718	0.79180	D	0.660951889362184	0.77078	6.606194	0.596436596814421	0.74683	6.179054	0.999999999999527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	5.23	0.72570	7.802000	0.84533	5.911000	0.51023	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.116000	0.19000	0.0:1.0:0.0:0.0	17.788	0.88454	934	0.15400	EGF-like calcium-binding, conserved site|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	976.43	35	chr9	136506947	.	C	A	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.75;DP=365;ExcessHet=0;FS=1.909;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=0.111;SOR=1.426	GT:AD:DP:GQ:PL	0/1:23,29:52:99:988,0,542	9	0	1	0
chr9	136839281	136839281	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon12:c.C1556T:p.P519L,RABL6:NM_024718:exon12:c.C1553T:p.P518L	.	.	.	.	.	.	.	.	.	.	.	700903	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.132	.	0.0036	0.00379393	0.0013	0.0150	0.0003	0	0	0.0002	0.0015	0	0.001009	156	154602	rs144926317	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0105	0.0102	0.0115	0.0005	0.0007	0	0	0.0030	2.251e-05	0.0007	0	0.0035	0.0035	0.0038	0.0033	0.0122	0.0033	0.0032	0.0113	0.0110	0.0122	0	0.0014	0.0012	0	0	0	2.94e-05	0.0019	0	0.49	0.08188	T	0.073	0.53426	T	0.979	0.62325	D	0.778	0.63100	P	0.397778	0.13167	U	0.716271	0.999998	0.20152	N	2.39	0.68882	M	-0.09	0.64086	T	-1.83	0.42957	N	0.194	0.21319	-0.8402	0.52633	T	0.239	0.60667	T	10	0.004451871	0.00091	T	.	.	.	0.132	0.35948	.	.	0.425592409813	0.42174	0.14868552859551176	0.14790	0.00750058978399	0.00664	0.261873751879	0.05116	T	0.019611	0.15591	T	-0.486132	0.00683	T	-0.460683	0.26526	T	0.0102703231353284	0.00140	T	0.443756	0.12347	T	0.027661093	0.01991	0.03117527	0.01671	0.027661093	0.01990	0.03117527	0.01670	-4.737	0.34157	T	.	.	0.069	0.03964	B	.;.	.;.	1.249119	0.16459	12.55	0.99274715009202807	0.57696	0.45759	0.27609	N	AEFDGBHCI	0.127755	0.24526	N	-0.314787316046395	0.28585	1.57794	-0.558383478600892	0.20583	1.109634	0.999867305399311	0.44398	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.02	2.07	0.26004	-0.034000	0.12176	0.975000	0.23085	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.243:0.757:0.0:0.0	8.052	0.29747	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	0	0	1	0	0.001007	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1866.43	33	chr9	136839281	.	C	T	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=431;ExcessHet=0;FS=2.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-1.876;SOR=0.924	GT:AD:DP:GQ:PL	0/1:43,66:109:99:1878,0,947	9	0	1	0
chr9	137112002	137112002	C	T	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon10:c.G1078A:p.A360T	.	.	.	.	.	.	.	.	.	.	.	3247917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0147863884615	7.7e-05	.	4.148e-05	0	0	0.0001	0	6.042e-05	0	0	3.88e-05	6	154602	rs145954715	5.337e-05	5.336e-05	5.583e-05	5.089e-05	6.746e-05	4.345e-05	4.018e-05	5.51e-05	5.026e-05	0	2.237e-05	0	2.519e-05	0	0	6.746e-05	1.656e-05	0	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.207	0.19854	T	0.493	0.11443	T	0.153	0.28093	B	0.046	0.24676	B	0.589156	0.11067	N	0.787937	1	0.08975	N	-0.185	0.04235	N	3.0	0.09167	T	-0.78	0.21644	N	0.11	0.09631	-0.9469	0.41498	T	0.009	0.03315	T	10	0.08487612	0.14270	T	0.014786	0.35134	T	0.076	0.22200	.	.	0.0666544352282	0.05500	0.7898957265533059	0.78941	0.0786725316196	0.08852	0.334217905998	0.15570	T	0.003553	0.02960	T	-0.459752	0.00987	T	-0.72905	0.04370	T	0.0304899290204048	0.02066	T	0.893711	0.63166	D	0.119155824	0.28061	0.067987226	0.14139	0.119155824	0.28061	0.067987226	0.14139	-6.401	0.49517	T	.	.	0.106	0.19720	B	.	.	2.657837	0.34622	19.68	0.97466333922977322	0.34110	0.07497	0.13512	N	AEFDGBCI	0.136695	0.25744	N	-1.17749645986723	0.05341	0.2432584	-1.13904464613197	0.06966	0.3371499	0.999987207772921	0.51787	0.732398	0.92422	0	0.702456	0.74545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.97	0.871	0.18244	0.121000	0.15496	0.943000	0.22867	0.597000	0.34315	0.000000	0.06391	0.166000	0.23302	0.875000	0.41745	0.2196:0.4529:0.0:0.3276	3.623	0.07646	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	97	chr9	137112002	.	C	T	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.563;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.498;SOR=0.704	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1201,0,1079	9	0	1	0
chr10	366331	366331	C	T	exonic	DIP2C	.	nonsynonymous SNV	DIP2C:NM_014974:exon19:c.G2212A:p.V738I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00325468096466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.005	0.11217	B	0.000292	0.46274	N	0.190436	1	0.08975	N	1.5	0.37844	L	2.85	0.10578	T	-0.32	0.12283	N	0.15	0.20660	-1.0223	0.22965	T	0.073	0.29578	T	10	0.14847383	0.28116	T	0.003255	0.07177	T	0.042	0.11227	0.6	0.73105	0.043077524339	0.03247	0.30096386499836275	0.30009	0.621333727136	0.56425	0.270182400942	0.06164	T	0.048516	0.28041	T	-0.302877	0.08391	T	-0.672839	0.07428	T	0.163904160261154	0.18155	T	0.818018	0.49813	T	0.03124962	0.02931	0.032308802	0.01945	0.03124962	0.02930	0.032308802	0.01945	-3.301	0.13750	T	.	.	0.066	0.03060	B	.;.;.	.;.;.	0.637825	0.10061	6.812	0.91588385084858126	0.20870	0.09927	0.15570	N	AEFDBI	0.041536	0.06327	N	-0.716011549394585	0.15571	0.7859205	-0.714721999282696	0.16594	0.8786007	0.0590110320152052	0.15147	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.35	3.26	0.36471	0.946000	0.28667	1.145000	0.24435	0.599000	0.40250	0.310000	0.25414	0.410000	0.24754	0.118000	0.19084	0.0:0.3313:0.2424:0.4264	2.919	0.05410	657	0.62240	AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2468.43	33	chr10	366331	.	C	T	2468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.258;DP=528;ExcessHet=0;FS=4.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.076;SOR=0.754	GT:AD:DP:GQ:PL	0/1:111,106:217:99:2480,0,2662	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	0/1:81,44:125:99:243,0,1317	3	0	7	0
chr10	1363062	1363062	G	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.C1043A:p.A348E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00908659791641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.203	0.29776	B	0.081	0.28987	B	0.361257	0.04305	N	1.385730	1	0.08975	N	1.24	0.30952	L	1.99	0.21666	T	-0.03	0.07444	N	0.125	0.11769	-1.0421	0.16681	T	0.017	0.06807	T	10	0.035996705	0.01876	T	0.009087	0.23917	T	0.031	0.07369	0.457	0.52265	0.123314135267	0.11883	0.2679764123111616	0.26710	1.07880436334	0.77074	0.267588078976	0.05829	T	0.00827	0.07601	T	-0.278956	0.10777	T	-0.638477	0.09780	T	0.0858684304873363	0.10720	T	0.289971	0.05268	T	0.041354667	0.06077	0.08967596	0.20984	0.041354667	0.06076	0.08967596	0.20983	-8.177	0.62270	D	.	.	0.119	0.24566	B	.	.	-0.207309	0.03053	0.472	0.54965077188408107	0.05244	0.06707	0.12728	N	AEFDBCI	0.087658	0.17773	N	-1.50619947224506	0.01808	0.07927274	-1.51218697588789	0.02250	0.1031914	0.108759266137914	0.16590	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	-2.81	0.05459	0.383000	0.20381	-0.373000	0.09593	-0.327000	0.05804	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4882:0.126:0.2624:0.1233	1.909	0.03084	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	.	.	.	.	.	.	.	.	0.05	2293.43	35	chr10	1363062	.	G	T	2293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=483;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.026;SOR=0.615	GT:AD:DP:GQ:PL	0/1:67,92:159:99:2305,0,1419	9	0	1	0
chr10	7576593	7576593	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon6:c.G1196A:p.R399H,ITIH5:NM_001001851:exon10:c.G1838A:p.R613H,ITIH5:NM_030569:exon10:c.G1838A:p.R613H	.	429	1074	19	0	0	19	0.00876788	.	.	.	724067	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00277705274274	0.0025	0.00119808	0.0024	0.0006	0.0009	0	0.0015	0.0032	0.0011	0.0030	0.0023027	356	154602	rs148811531	0.0025	0.0025	0.0025	0.0025	0.0071	0.0024	0.0024	0.0054	0.0048	0.0010	0.0015	0.0044	0	0.0019	0.0071	0.0026	0.0025	0.0030	0.0020	0.0020	0.0020	0.0021	0.0026	0.0019	0.0018	0.0023	0.0022	0.0008	0	0.0024	0.0055	0	0.0024	0.0034	0.0026	0.0047	0.0021	0.749	0.04864	T	0.778	0.07444	T	0.0	0.02946	B	0.0	0.01387	B	0.025196	0.26132	N	0.466802	1	0.08975	N	.	.	.	1.59	0.28836	T	1.8	0.00513	N	0.055	0.03283	-0.9800	0.35002	T	0.027	0.11663	T	9	0.010210663	0.00228	T	0.002777	0.05781	T	0.061	0.17616	.	.	0.0551355673512	0.04727	0.37570074253142405	0.37484	.	.	0.206901490688	0.00687	T	0.003161	0.02566	T	-0.64418	0.00079	T	-0.700518	0.05797	T	0.000670027541734186	0.00006	T	0.786621	0.43457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.;.;.	.;.;.	0.111307	0.05106	1.638	0.46584350116879147	0.03742	0.08431	0.14361	N	AEFDBI	0.150150	0.27438	N	-1.16588580509595	0.05523	0.2520297	-1.16274024222796	0.06541	0.3152244	0.773206773292317	0.23708	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.2	-2.14	0.06725	1.149000	0.31238	-2.371000	0.03838	-0.850000	0.02721	0.976000	0.34826	0.000000	0.08366	0.004000	0.06068	0.0:0.1385:0.0:0.8615	11.537	0.49894	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.007576	0.05	1248.43	35	chr10	7576593	.	C	T	1248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.656;DP=557;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.006;SOR=0.495	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1260,0,842	9	0	1	0
chr10	12001769	12001769	C	G	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon6:c.G1561C:p.E521Q,UPF2:NM_080599:exon6:c.G1561C:p.E521Q	.	441	1077	4	0	0	4	0.00185357	.	.	.	701215	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.055	0.0115735380545	0.0052	0.00179712	0.0047	0.0012	0.0024	0	0.0009	0.0075	0.0023	0.0014	0.0046765	723	154602	rs118004016	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0010	0.0024	0.0054	0	0.0017	0.0026	0.0073	0.0053	0.0009	0.0039	0.0040	0.0044	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0014	0	0.0018	0.0063	0.0002	0.0009	0	0.0069	0.0028	0.0010	0.135	0.26192	T	0.102	0.38450	T	0.155	0.28155	B	0.064	0.27215	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.97	0.22067	T	-1.37	0.33998	N	0.276	0.31365	-1.1157	0.02622	T	0.040	0.17277	T	10	0.008239508	0.00187	T	0.011574	0.29327	T	0.055	0.15663	.	.	0.445544589891	0.44177	0.41234901816517877	0.41150	0.659821582233	0.58827	0.677614569664	0.63926	T	0.048488	0.28032	T	-0.442075	0.01257	T	-0.403641	0.32960	T	0.0393251865609451	0.03568	T	0.911809	0.68723	D	0.2728143	0.50350	0.18171048	0.41052	0.2728143	0.50350	0.18171048	0.41051	-5.506	0.41923	T	.	.	0.375	0.58126	A	.;.;.	.;.;.	3.952703	0.57923	23.9	0.99422475987950754	0.63838	0.99389	0.95397	D	AEFBI	0.719506	0.67037	D	0.159163047645419	0.49246	3.127194	0.329092725220834	0.57255	3.89066	0.999995406938031	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	6.821000	0.75062	6.001000	0.52488	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.153	0.93480	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1083.43	35	chr10	12001769	.	C	G	1083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.739;DP=420;ExcessHet=0;FS=3.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.082;SOR=0.439	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1095,0,1419	9	0	1	0
chr10	12998442	12998442	-	T	exonic	CCDC3	.	frameshift insertion	CCDC3:NM_031455:exon2:c.444dupA:p.E149Rfs*8,CCDC3:NM_001282658:exon6:c.69dupA:p.E24Rfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	756.39	35	chr10	12998442	.	C	CT	756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.4;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.395;SOR=0.598	GT:AD:DP:GQ:PL	0/1:59,29:88:99:768,0,1829	9	0	1	0
chr10	17965658	17965658	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon3:c.C317T:p.S106F,SLC39A12:NM_001145195:exon4:c.C719T:p.S240F,SLC39A12:NM_001282733:exon4:c.C719T:p.S240F,SLC39A12:NM_152725:exon4:c.C719T:p.S240F	.	0	225	1	0	0	1	0.00221729	.	.	.	3329141	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00661248599983	.	0.000199681	8.26e-06	0	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs565046397	2.736e-06	2.736e-06	2.723e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.781	0.03392	T	0.748	0.04842	T	0.006	0.14655	B	0.008	0.19966	B	0.018490	0.27471	N	0.429139	0.968825	0.25783	N	0.295	0.10161	N	-0.05	0.64264	T	-1.74	0.41239	N	0.182	0.24883	-1.0226	0.22866	T	0.120	0.41843	T	10	0.05986923	0.07264	T	0.006612	0.17444	T	0.033	0.08068	0.386	0.40624	0.139678290688	0.13603	0.34401809535962136	0.34315	0.0241457992308	0.02455	0.341167330742	0.16612	T	0.006713	0.06137	T	-0.219857	0.18012	T	-0.48994	0.23397	T	0.0176755131308739	0.00499	T	0.781422	0.41649	T	0.045433775	0.07435	0.06334727	0.12534	0.045433775	0.07434	0.06334727	0.12534	-5.682	0.43533	T	.	.	0.078	0.10111	B	.;.;.;.	.;.;.;.	0.941344	0.13168	9.671	0.1321388255939808	0.00253	0.52460	0.29137	D	AEFDI	0.065223	0.12711	N	-0.825870487356639	0.12650	0.6180332	-0.711420770583789	0.16676	0.8833256	1.53165229337004E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	1.3	0.20778	1.184000	0.31663	1.807000	0.28930	-0.313000	0.06017	0.967000	0.34061	0.971000	0.29754	0.084000	0.17470	0.0:0.5556:0.0:0.4444	9.173	0.36254	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	628.43	34	chr10	17965658	.	C	T	628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=371;ExcessHet=0;FS=3.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.246;SOR=1.167	GT:AD:DP:GQ:PL	0/1:39,27:66:99:640,0,955	9	0	1	0
chr10	19280124	19280124	A	C	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.A3157C:p.N1053H	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	.	.	0.00279553	0.0041	0	0	0	0	0	0	0.0102	0.000608	94	154602	rs574597600	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0006	0.0100	0.0098	0	0	0	0.0001	0	0.0014	4.455e-05	0.0013	0.0106	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	0.0001	0	0.0006	0	0	4.41e-05	0.0009	0.0114	0.077	0.34095	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.8	0.95696	D	-2.23	0.50012	N	0.198	0.21839	-0.0307	0.81616	T	0.710	0.90046	D	5	0.007387638	0.00168	T	.	.	.	0.169	0.43123	.	.	0.479668003354	0.47597	0.23483198360211316	0.23398	.	.	.	.	.	.	.	.	-0.4297	0.01489	T	-0.383046	0.35366	T	0.0349221734059856	0.02795	T	0.377362	0.09032	T	0.045191597	0.07355	0.087837264	0.20442	0.045191597	0.07355	0.087837264	0.20442	-8.327	0.63277	D	.	.	0.084	0.10979	B	.;.	.;.	-0.117283	0.03540	0.677	0.98317798712224336	0.40212	0.03517	0.08699	N	AEFI	0.114549	0.22558	N	-0.634009701347622	0.17930	0.9267867	-0.787671871901121	0.14797	0.7750621	0.00116447144121819	0.08293	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	-4.77	0.02985	-0.632000	0.05587	-1.779000	0.04742	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.928000	0.46473	0.425:0.219:0.3561:0.0	7.515	0.26766	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	.	.	.	.	.	.	.	.	0.05	595.43	34	chr10	19280124	.	A	C	595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.462;DP=360;ExcessHet=0;FS=1.083;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.726;SOR=0.503	GT:AD:DP:GQ:PL	0/1:26,25:51:99:607,0,694	9	0	1	0
chr10	24543815	24543815	A	C	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.A4545C:p.Q1515H	.	426	1092	4	0	0	4	0.00182815	.	.	.	2336819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0139899106435	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs141343728	0.0001	0.0001	0.0001	0.0002	0.0062	0.0001	0.0001	0.0046	0.0041	0.0001	0.0005	0	0	0	0.0062	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0136	0.0003	0.0009	0.0002	0.122	0.27663	T	0.151	0.32355	T	0.755	0.46778	P	0.465	0.46596	P	0.558033	0.05408	N	1.229040	1	0.08975	N	2.045	0.56016	M	1.91	0.31205	T	0.36	0.04947	N	0.098	0.08925	-0.9853	0.33760	T	0.077	0.30920	T	10	0.04715109	0.03996	T	0.01399	0.33799	T	0.059	0.16972	0.16	0.06396	0.344017737713	0.34012	0.18654690842617375	0.18572	0.307317501305	0.33031	0.209153756499	0.00776	T	0.067832	0.33303	T	-0.555539	0.00270	T	-0.677189	0.07156	T	0.0197423976264534	0.00676	T	0.669833	0.27843	T	0.034113314	0.03764	0.040042978	0.04236	0.034113314	0.03764	0.040042978	0.04236	-4.081	0.25819	T	.	.	0.147	0.32541	B	.;.	.;.	1.351405	0.17589	13.25	0.95896564359609093	0.28117	0.20460	0.21049	N	AEFDBCI	0.209405	0.33539	N	-0.755424699966197	0.14486	0.7220121	-0.881731736427252	0.12526	0.6448887	0.775935463927443	0.23752	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	0.823	0.17950	0.741000	0.25870	0.705000	0.20878	-1.292000	0.01254	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.5161:0.0:0.4839:0.0	9.773	0.39771	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.023392	0.000000	0.000000	0.000000	0.000000	0.05	1746.43	38	chr10	24543815	.	A	C	1746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=535;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.65;SOR=0.754	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1758,0,1524	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	0/1:90,13:103:99:171,0,2543	7	0	3	0
chr10	48743001	48743001	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon12:c.C1912T:p.R638C,WDFY4:NM_020945:exon12:c.C1912T:p.R638C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0210438739144	.	0.000798722	0.0001	0	0	0.0037	0	0	0.0043	0	8.41e-05	13	154602	rs148252819	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0058	0.0055	0	2.801e-05	0	0.0064	0	0	5.562e-06	0.0006	3.787e-05	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0046	0	0	6.539e-05	0	0.0070	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.995	0.67487	D	0.446	0.45959	B	.	.	.	.	0.601348	0.32541	D	2.095	0.58118	M	0.55	0.54728	T	-5.58	0.86450	D	0.266	0.30118	-0.5034	0.68527	T	0.203	0.56087	T	8	0.0079832375	0.00181	T	0.021044	0.43757	T	0.274	0.59007	.	.	0.465464902746	0.46175	0.5138848107500441	0.51310	.	.	0.314360737801	0.12566	T	0.240399	0.60871	T	-0.330352	0.06085	T	-0.237909	0.51002	T	0.213245000141729	0.21122	T	0.89891	0.64583	D	0.41952437	0.62060	0.41268754	0.65464	0.41952437	0.62061	0.41268754	0.65464	-7.075	0.54580	T	.	.	0.114	0.22717	B	.	.	4.306019	0.65784	24.9	0.99936301597735078	0.99621	0.92126	0.55002	D	AEFBI	0.595852	0.59024	D	0.53613356060736	0.69242	5.329252	0.572226561163548	0.72955	5.89225	0.999996827438814	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	5.296000	0.65493	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.490	0.90792	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1218.43	33	chr10	48743001	.	C	T	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=416;ExcessHet=0;FS=2.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.231;SOR=1.031	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1230,0,1308	9	0	1	0
chr10	49941641	49941641	G	A	exonic	PARG	.	nonsynonymous SNV	PARG:NM_003631:exon1:c.C85T:p.R29W	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	5.472e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.895	0.22405	L	.	.	.	.	.	.	0.305	0.36254	.	.	.	.	.	.	.	0.13407177	0.25517	T	.	.	.	.	.	.	.	0.453307948783	0.44952	0.3171780186858065	0.31630	.	.	0.799564838409	0.81897	T	0.079441	0.36128	T	0.151388	0.69397	D	-0.0203184	0.69008	D	.	.	.	0.907609	0.67324	D	0.30716577	0.53539	0.33888376	0.59661	0.30716577	0.53539	0.33888376	0.59660	-5.673	0.43452	T	.	.	0.203	0.42777	B	.;.	.;.	4.992573	0.82778	27.9	0.98437734877989025	0.41475	0.53263	0.29329	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.996420792596447	0.34736	0.164513	0.03853	0	0.097471	0.02872	0	0.183335	0.04453	0	0.101684	0.03063	0	0.307312	0.35014	2.57	2.57	0.29928	5.201000	0.64999	7.455000	0.58998	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	8.711	0.33546	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2193.43	33	chr10	49941641	.	G	A	2193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.42;MQRankSum=0.735;QD=13.62;ReadPosRankSum=-1.354;SOR=0.675	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2205,0,1650	9	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	508.83	35	chr10	50104143	.	G	C	508.83	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.594;DP=606;ExcessHet=2.8389;FS=154.041;InbreedingCoeff=-0.5384;MLEAC=3;MLEAF=0.25;MQ=55.53;MQRankSum=0.493;QD=1.44;ReadPosRankSum=0.834;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:69:0|1:50104141_G_C:69,0,1255:50104141	4	0	2	4
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2222	564.7	40	chr10	50104144	.	G	A	564.7	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.768;DP=636;ExcessHet=1.5895;FS=154.041;InbreedingCoeff=-0.3296;MLEAC=4;MLEAF=0.222;MQ=55.49;MQRankSum=0.493;QD=2.05;ReadPosRankSum=1.02;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:69:0|1:50104141_G_C:69,0,1255:50104141	5	0	4	1
chr10	53808927	53808928	TC	-	exonic	PCDH15	.	frameshift deletion	PCDH15:NM_001354411:exon35:c.5116_5117del:p.E1706Kfs*5	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.911e-05	0	0	0	0	5.948e-05	0	0.0001	1.94e-05	3	154602	rs775054636	4.945e-06	5.472e-06	1.397e-06	8.575e-06	8.688e-05	2.06e-06	1.32e-06	4.002e-05	2.814e-05	0	0	0	0	0	0	0	0	8.688e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4443.39	37	chr10	53808926	.	TTC	T	4443.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=564;ExcessHet=0;FS=1.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=0.698;SOR=0.698	GT:AD:DP:GQ:PL	0/1:113,115:228:99:4455,0,4319	9	0	1	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L,CDH23:NM_001171934:exon10:c.C1400T:p.P467L,CDH23:NM_022124:exon55:c.C8120T:p.P2707L	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	1503	19	0	0	19	0.00628099	.	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	Cadherin-like;Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	2337.43	35	chr10	71806223	.	C	T	2337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.211;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.85;ReadPosRankSum=0.875;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,59:98:99:0|1:71806223_C_T:2349,0,1460:71806223	9	0	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G,CDH23:NM_001171934:exon15:c.C2294G:p.A765G,CDH23:NM_022124:exon60:c.C9014G:p.A3005G	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	1502	19	0	1	20	0.00628515	.	.	.	229902	Usher_syndrome_type_1|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	785	0.46916	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1269.43	35	chr10	71810506	.	C	G	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.538;DP=491;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-1.071;SOR=0.83	GT:AD:DP:GQ:PL	0/1:89,57:146:99:1281,0,2116	9	0	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	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	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	2780.43	36	chr10	71811550	.	G	A	2780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=501;ExcessHet=0;FS=1.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.05;SOR=0.593	GT:AD:DP:GQ:PL	0/1:75,105:180:99:2792,0,1693	9	0	1	0
chr10	87009537	87009537	C	T	exonic	AGAP11	.	nonsynonymous SNV	AGAP11:NM_133447:exon12:c.C1285T:p.R429W	.	417	1102	3	0	0	3	0.00135931	.	.	.	2338832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0004	0.0008	0.0009	0	0	0.0004	0.0011	6.058e-05	0.000401	62	154602	rs190063080	0.0007	0.0007	0.0008	0.0007	0.0020	0.0007	0.0007	0.0011	0.0008	0.0003	0.0009	0	2.519e-05	0	0.0020	0.0008	0.0007	0.0003	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0015	0.0013	0.0005	0	0.0021	0	0	0	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001068	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003817	0.05	2311.43	38	chr10	87009537	.	C	T	2311.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.571;DP=497;ExcessHet=0;FS=2.13;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.47;MQRankSum=-0.936;QD=15.94;ReadPosRankSum=0.835;SOR=0.596	GT:AD:DP:GQ:PL	0/1:59,86:145:99:2323,0,1460	9	0	1	0
chr10	94321979	94321979	G	C	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon29:c.G5497C:p.V1833L,PLCE1:NM_001288989:exon30:c.G6373C:p.V2125L,PLCE1:NM_016341:exon30:c.G6421C:p.V2141L	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0189235685289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.78	0.44271	P	0.73	0.55268	P	0.000105	0.50451	D	0.132195	0.999986	0.81001	D	2.63	0.76995	M	1.01	0.41058	T	-2.25	0.52289	N	0.751	0.75009	-0.6717	0.61752	T	0.244	0.61213	T	10	0.5467353	0.64026	D	0.018924	0.41136	T	0.205	0.49236	0.543	0.65589	0.747070109847	0.74478	0.6048592940422401	0.60416	1.26695969164	0.82193	0.633597254753	0.57656	T	0.324846	0.69562	T	0.0042755	0.52243	T	-0.231635	0.51614	T	0.976579189300537	0.71442	D	0.954005	0.82493	D	0.69014084	0.77519	0.7079017	0.82775	0.69014084	0.77521	0.7079017	0.82776	-9.498	0.70846	D	0.738298696403825	0.82029	0.949	0.88272	P	.;.;.	.;.;.	4.423125	0.68520	25.2	0.99781410050862995	0.86780	0.95019	0.63143	D	AEFBCI	0.891921	0.82836	D	0.680198785122773	0.78336	6.850791	0.729936823902677	0.84651	8.351917	0.999992690520154	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.83	5.83	0.93059	7.588000	0.81905	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.730	0.96172	390	0.83257	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) 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	1066.43	33	chr10	94321979	.	G	C	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.91;SOR=0.706	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1078,0,1487	9	0	1	0
chr10	94576686	94576686	A	G	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289073:exon9:c.A499G:p.T167A,HELLS:NM_001289067:exon10:c.A913G:p.T305A,HELLS:NM_001289068:exon10:c.A865G:p.T289A,HELLS:NM_001289069:exon10:c.A913G:p.T305A,HELLS:NM_001289070:exon10:c.A913G:p.T305A,HELLS:NM_001289072:exon10:c.A913G:p.T305A,HELLS:NM_018063:exon10:c.A913G:p.T305A,HELLS:NM_001289071:exon11:c.A541G:p.T181A	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	452	1056	14	0	0	14	0.00658514	.	.	.	752336	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4|HELLS-related_disorder|not_provided	MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.168	0.0730283883578	0.0002	.	0.0006	0	0.0004	0	0	0.0006	0.0011	0.0022	0.000511	79	154602	rs200482346	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0028	0.0027	0	0.0002	0.0020	0	0	0.0038	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.812e-05	0	6.539e-05	0.0017	0	0	0.0034	0.0002	0.0005	0.0037	0.201	0.42487	T	0.292	0.25061	T	0.0	0.11197	B	0.004	0.10090	B	0.054652	0.22707	N	0.505809	1	0.81001	D	0.425	0.12573	N	-3.19	0.93170	D	-2.32	0.51478	N	0.087	0.08925	-0.1907	0.77910	T	0.604	0.85928	D	10	0.0170556	0.00362	T	0.073028	0.71685	D	0.168	0.42943	.	.	0.681506863636	0.67879	0.3712274698646387	0.37036	0.636122681632	0.57407	0.325754880905	0.14292	T	0.495773	0.92041	T	-0.390644	0.02664	T	-0.338525	0.40512	T	0.0119638062532283	0.00188	T	0.835416	0.50550	T	0.03720082	0.04723	0.07002862	0.14827	0.040155202	0.05680	0.05558333	0.09775	-5.179	0.38728	T	.	.	0.072	0.27821	B	.;.;.;.;.	.;.;.;.;.	1.849838	0.23498	16.04	0.96561619739867388	0.30261	0.23141	0.21979	N	AEFBCI	0.065498	0.12778	N	-0.551460998804747	0.20438	1.077405	-0.456556647763463	0.23363	1.273679	1.05620275344309E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	2.16	0.26663	0.907000	0.28154	4.591000	0.43958	0.756000	0.94297	0.040000	0.20979	1.000000	0.68203	0.995000	0.73285	0.7358:0.0:0.2642:0.0	7.595	0.27209	583	0.69484	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006048	0.000000	0.004076	0.020468	0.000000	0.008621	0.003067	0.000000	0.05	827.43	42	chr10	94576686	.	A	G	827.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.03;DP=413;ExcessHet=0;FS=0.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=1.29;SOR=0.586	GT:AD:DP:GQ:PL	0/1:61,37:98:99:839,0,1569	9	0	1	0
chr10	100490238	100490238	C	G	exonic	SEC31B	.	nonsynonymous SNV	SEC31B:NM_015490:exon21:c.G2735C:p.G912A	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00742358848357	7.7e-05	.	6.671e-05	0	8.711e-05	0	0.0002	9.063e-05	0	0	5.17e-05	8	154602	rs372086301	6.09e-05	6.088e-05	6.672e-05	5.502e-05	0.0012	5.029e-05	4.673e-05	0.0006	0.0004	0	2.239e-05	0	0	0.0001	0.0012	6.206e-05	6.624e-05	1.16e-05	5.921e-05	5.911e-05	5.146e-05	6.733e-05	8.826e-05	3.081e-05	2.213e-05	3.764e-05	2.576e-05	0	0	0	0	0	0.0003	0	8.826e-05	0	0	0.281	0.15458	T	0.516	0.10607	T	0.005	0.12996	B	0.004	0.10090	B	0.114424	0.19275	N	0.570411	1	0.08975	N	2.175	0.60977	M	0.67	0.52187	T	-0.65	0.18877	N	0.183	0.19861	-1.0314	0.20002	T	0.084	0.32843	T	10	0.03805819	0.02199	T	0.007424	0.19685	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.2939726826192717	0.29310	0.0347712706754	0.03660	0.324701488018	0.14134	T	0.002123	0.01528	T	-0.373913	0.03401	T	-0.570326	0.15420	T	0.0392155815356565	0.03548	T	0.616838	0.23625	T	0.023508457	0.01096	0.02889795	0.01170	0.023508457	0.01096	0.02889795	0.01170	-3.839	0.21388	T	.	.	0.076	0.05890	B	.	.	0.679988	0.10482	7.201	0.64601521857436928	0.07539	0.13513	0.17898	N	AEFDBI	0.050134	0.08733	N	-0.967933155960505	0.09295	0.4392942	-0.962636152752117	0.10631	0.5366645	0.543444094744224	0.21272	0.706548	0.73137	0	0.724815	0.89359	0	0.687403	0.62504	0	0.635551	0.53088	0	.	.	5.48	2.53	0.29594	1.243000	0.32370	1.586000	0.27502	-0.182000	0.10109	0.009000	0.18154	0.005000	0.19230	0.192000	0.21661	0.1635:0.5927:0.1579:0.0859	4.186	0.09859	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1172.43	34	chr10	100490238	.	C	G	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.869;DP=472;ExcessHet=0;FS=15.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-3.029;SOR=1.629	GT:AD:DP:GQ:PL	0/1:95,56:151:99:1184,0,2322	9	0	1	0
chr10	102144271	102144271	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon7:c.C3572T:p.P1191L,PPRC1:NM_001288728:exon7:c.C3212T:p.P1071L,PPRC1:NM_015062:exon7:c.C3572T:p.P1191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.012156789572	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs771146169	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0001	8.94e-06	7.26e-06	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	3.853e-05	1.345e-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	0.0002	0.388	0.10909	T	0.087	0.40747	T	0.001	0.07471	B	0.001	0.04355	B	0.156418	0.17800	N	0.593417	0.959138	0.51968	D	0.035	0.08059	N	2.0	0.28836	T	-0.46	0.14978	N	0.22	0.27077	-1.0811	0.07137	T	0.030	0.12935	T	10	0.04252681	0.03010	T	0.012157	0.30482	T	0.043	0.11576	0.208	0.12497	0.043077524339	0.03247	0.08833544356075104	0.08766	0.0854666264456	0.09655	0.374650776386	0.21495	T	0.020069	0.28446	T	-0.412661	0.01909	T	-0.661407	0.08172	T	0.12467011064291	0.14881	T	0.779622	0.43772	T	0.030654108	0.02766	0.02931695	0.01257	0.030654108	0.02766	0.02931695	0.01257	-4.445	0.30162	T	.	.	0.081	0.08081	B	.;.;.	.;.;.	2.255402	0.28814	17.92	0.99032225798144058	0.50830	0.17978	0.20068	N	AEFDBCI	0.020545	0.00823	N	-0.882855447133515	0.11250	0.5419089	-0.755301139707255	0.15592	0.8208208	0.998454143327198	0.36996	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	-0.522	0.11332	-0.508000	0.06426	-0.007000	0.13116	-0.242000	0.07441	0.389000	0.26079	0.000000	0.08366	0.941000	0.48210	0.2517:0.2442:0.0:0.5041	4.213	0.09979	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1045.43	35	chr10	102144271	.	C	T	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.841;SOR=0.586	GT:AD:DP:GQ:PL	0/1:21,41:62:99:1057,0,416	9	0	1	0
chr10	104454495	104454495	G	A	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon18:c.G2584A:p.G862R	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.191804016499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766303918	2.737e-06	3.42e-06	4.085e-06	1.375e-06	1.16e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.16e-05	6.573e-06	6.567e-06	1.285e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000325	0.45700	N	0.187572	0.999999	0.58761	D	.	.	.	-2.0	0.85393	D	-4.58	0.78807	D	0.777	0.77413	0.730	0.93546	D	0.786	0.92740	D	10	0.8125957	0.80528	D	0.191804	0.86206	D	0.692	0.88820	0.38	0.39645	0.484763619824	0.48107	0.5213949821049538	0.52062	0.304478965175	0.32754	0.482314318419	0.36375	T	0.200426	0.55801	T	0.321389	0.84571	D	0.324507	0.89281	D	0.998089015483856	0.93188	D	0.880612	0.59878	D	0.71213835	0.78725	0.7046215	0.82589	0.71213835	0.78726	0.7046215	0.82590	-3.238	0.12951	T	.	.	0.806	0.77569	P	.	.	4.728184	0.76132	26.5	0.99889918980979797	0.96436	0.98369	0.82077	D	AEFI	0.639845	0.61775	D	0.740293023119952	0.82272	7.721707	0.645460077616794	0.78272	6.843141	0.772070067368339	0.23689	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.47	5.47	0.80345	5.609000	0.67343	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.837	0.85823	171	0.93390	.	.	.	.	.	.	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	1897.43	38	chr10	104454495	.	G	A	1897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.933;DP=472;ExcessHet=0;FS=1.243;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.289;SOR=0.584	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1909,0,1916	9	0	1	0
chr10	110133616	110133619	TAAA	-	exonic	ADD3	.	nonframeshift deletion	ADD3:NM_001121:exon14:c.2023_2026del:p.*675*,ADD3:NM_019903:exon14:c.2023_2026del:p.*675*,ADD3:NM_001320592:exon15:c.2119_2122del:p.*707*,ADD3:NM_001320593:exon15:c.2119_2122del:p.*707*,ADD3:NM_016824:exon15:c.2119_2122del:p.*707*,ADD3:NM_001320591:exon16:c.2119_2122del:p.*707*,ADD3:NM_001320594:exon16:c.1885_1888del:p.*629*	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	452	1067	3	0	0	3	0.00140384	.	.	.	438723	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0.0001	8.781e-05	0	0	0.0006	0	0.0002	0.0002781	43	154602	rs753541585	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	9.631e-05	0.0001	0.0041	2.542e-05	0	0.0052	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.662e-05	0	0.0002	0.0035	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	172.04	16	chr10	110133615	.	CTAAA	C	172.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.532;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.064;SOR=0.631	GT:AD:DP:GQ:PL	0/1:9,5:14:99:183,0,352	8	0	1	1
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C,PRDX3:NM_006793:exon5:c.G517T:p.G173C	.	431	1078	13	0	0	13	0.00599355	.	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	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	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.100000	0.008621	0.006098	0.011364	0.05	1630.43	36	chr10	119172416	.	C	A	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.881;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-2.059;SOR=0.721	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1642,0,1208	9	0	1	0
chr10	119820851	119820851	T	C	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon2:c.T62C:p.I21T,INPP5F:NM_014937:exon16:c.T1892C:p.I631T	.	429	1092	1	0	0	1	0.000457666	.	.	.	3968655	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00770279112698	0.0004	.	0.0001	9.612e-05	0	0	0	0.0002	0	0	0.0001035	16	154602	rs143847485	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	9e-05	2.236e-05	0	0	1.872e-05	0	0.0003	0.0002	3.483e-05	0.0001	0.0001	0.0002	8.066e-05	0.0003	7.575e-05	6.28e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0003	0	0	0.338	0.16903	T	0.425	0.40747	T	0.001	0.07471	B	0.003	0.08700	B	0.068305	0.21681	N	0.516807	0.995924	0.42925	D	1.61	0.41143	L	1.12	0.48460	T	0.3	0.30762	N	0.435	0.47395	-1.0657	0.10386	T	0.077	0.30951	T	10	0.07210681	0.10720	T	0.007703	0.20431	T	0.032	0.07718	.	.	0.267299060538	0.26338	0.5117399583613493	0.51095	0.163648037258	0.18455	0.635355770588	0.57904	T	0.091782	0.38867	T	-0.404758	0.02154	T	-0.513206	0.20986	T	0.0433019213378429	0.04293	T	0.843016	0.56114	T	0.092300355	0.21651	0.099205665	0.23679	0.092300355	0.21650	0.099205665	0.23678	-3.402	0.40347	T	.	.	0.061	0.14477	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.231642	0.28490	17.81	0.94899610257887979	0.25751	0.88487	0.48437	D	AEFGBI	0.091122	0.18459	N	-0.509687326367129	0.21766	1.157509	-0.366447126261547	0.26005	1.433649	0.999895321631482	0.45129	0.706298	0.61202	0	0.708844	0.79440	0	0.662677	0.59975	0	0.613276	0.41899	0	.	.	5.68	0.278	0.14925	2.103000	0.41430	0.157000	0.15360	0.605000	0.46263	0.994000	0.38300	0.392000	0.24668	1.000000	0.97212	0.0:0.3481:0.0:0.6519	8.959	0.34995	545	0.72614	hSac2 domain;.;hSac2 domain;.;.;.;.;.;.;hSac2 domain;hSac2 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	1240.43	35	chr10	119820851	.	T	C	1240.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=439;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-1.549;SOR=0.846	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1252,0,1564	9	0	1	0
chr10	122276833	122276833	C	T	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon3:c.C64T:p.R22W,BTBD16:NM_144587:exon3:c.C61T:p.R21W	.	.	.	.	.	.	.	.	.	.	.	2356088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0556492213768	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0008	0	0.0002	0.0004981	77	154602	rs147619675	0.0008	0.0008	0.0009	0.0008	0.0011	0.0008	0.0008	0.0010	0.0010	5.974e-05	0.0004	0	0	3.744e-05	0	0.0011	0.0006	0.0002	0.0005	0.0005	0.0007	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0007	0	0	0	0.0034	0.0009	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000083	0.51296	D	0.000000	0.544157	0.31388	N	2.545	0.74286	M	1.24	0.36691	T	-5.1	0.83027	D	0.698	0.70263	-0.5257	0.67703	T	0.204	0.56224	T	10	0.38565466	0.54520	T	0.055649	0.66314	D	0.206	0.49396	.	.	0.70969676289	0.70716	0.5020837778508499	0.50130	0.641525643221	0.57744	0.560316681862	0.47313	T	0.116004	0.43501	T	-0.286135	0.10027	T	-0.260494	0.48774	T	0.205646225380879	0.20723	T	0.889511	0.62170	D	0.7195486	0.79136	0.6930587	0.81933	0.7195486	0.79138	0.6930587	0.81934	-5.582	0.42628	T	.	.	0.294	0.52500	B	.	.	3.841036	0.55578	23.6	0.99924903133917553	0.98980	0.56438	0.30117	D	AEFGBI	0.325939	0.42737	N	0.488517024336442	0.66418	4.94757	0.416820880225287	0.62610	4.479612	0.99999700702164	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	3.98	0.45383	0.072000	0.14482	.	.	-0.181000	0.10308	0.993000	0.37899	0.050000	0.21810	0.970000	0.54328	0.1916:0.8084:0.0:0.0	10.636	0.44758	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2511.43	62	chr10	122276833	.	C	T	2511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.822;DP=697;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.849;SOR=0.811	GT:AD:DP:GQ:PL	0/1:112,106:218:99:2523,0,2543	9	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	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	0/1:68,43:126:99:320,0,941	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|1:91,41:132:99:0|1:124989533_G_A:1427,0,3646:124989533	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	0/1:105,32:137:99:785,0,3487	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	0/1:126,25:151:99:297,0,3231	2	0	4	4
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|1:115,17:132:99:0|1:124994489_T_G:368,0,4760:124994489	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|1:117,23:140:99:0|1:124994489_T_G:594,0,4798:124994489	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|1:113,23:136:99:0|1:124994489_T_G:606,0,4630:124994489	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|1:111,29:140:99:0|1:124994523_G_A:868,0,4468:124994523	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	0/1:106,33:139:99:574,0,2841	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	0/1:105,38:143:99:612,0,2883	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|1:104,38:142:99:0|1:124994577_C_A:1283,0,4181:124994577	0	0	10	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	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|1:111,9:120:44:0|1:125003381_AC_A:44,0,4568:125003381	5	0	5	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	344.3	105	chr10	125003448	.	G	C	344.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.532;DP=844;ExcessHet=1.5895;FS=5.299;InbreedingCoeff=-0.3457;MLEAC=5;MLEAF=0.313;MQ=59.2;MQRankSum=-8.746;QD=0.96;ReadPosRankSum=0.877;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9:97:99:0|1:125003425_G_C:113,0,3668:125003425	4	0	4	2
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	137.38	107	chr10	125003450	.	G	A	137.38	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.425;DP=840;ExcessHet=0.7463;FS=2.377;InbreedingCoeff=-0.243;MLEAC=3;MLEAF=0.188;MQ=59.31;MQRankSum=-8.802;QD=0.49;ReadPosRankSum=0.502;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9:97:99:0|1:125003425_G_C:113,0,3668:125003425	5	0	3	2
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	145.77	106	chr10	125003453	.	CG	C	145.77	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.326;DP=826;ExcessHet=0.7463;FS=2.242;InbreedingCoeff=-0.1688;MLEAC=3;MLEAF=0.15;MQ=59.3;MQRankSum=-8.859;QD=0.54;ReadPosRankSum=0.366;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9:97:99:0|1:125003425_G_C:113,0,3668:125003425	7	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	179.43	109	chr10	125003460	.	G	T	179.43	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.177;DP=817;ExcessHet=0.7463;FS=2.452;InbreedingCoeff=-0.2542;MLEAC=3;MLEAF=0.188;MQ=59.32;MQRankSum=-8.742;QD=0.68;ReadPosRankSum=-0.114;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,9:91:99:0|1:125003425_G_C:131,0,3416:125003425	5	0	3	2
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	200.64	99	chr10	125003466	.	G	T	200.64	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.217;DP=796;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1633;MLEAC=2;MLEAF=0.1;MQ=59.31;MQRankSum=-8.566;QD=0.78;ReadPosRankSum=-0.838;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:99:0|1:125003425_G_C:149,0,3164:125003425	7	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	211.86	95	chr10	125003468	.	C	A	211.86	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.097;DP=787;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1704;MLEAC=3;MLEAF=0.15;MQ=59.31;MQRankSum=-8.566;QD=0.84;ReadPosRankSum=-0.845;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:99:0|1:125003425_G_C:149,0,3144:125003425	7	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	231.14	94	chr10	125003470	.	G	T	231.14	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.22;DP=766;ExcessHet=0.7463;FS=1.074;InbreedingCoeff=-0.2698;MLEAC=3;MLEAF=0.188;MQ=59.28;MQRankSum=-8.275;QD=0.94;ReadPosRankSum=-0.743;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:84:99:0|1:125003425_G_C:152,0,3102:125003425	5	0	3	2
chr10	125003491	125003491	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon2:c.T1680A:p.S560R	.	420	1097	5	0	0	5	0.00227376	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.214387794182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.016	0.60972	D	0.813	0.45457	P	0.409	0.44752	B	0.120212	0.19044	N	0.623124	1	0.81001	D	.	.	.	-1.85	0.84267	D	-1.69	0.40274	N	0.82	0.81559	-0.1913	0.77895	T	0.489	0.80565	T	9	0.75226426	0.75723	D	0.214388	0.87455	D	0.477	0.76881	0.427	0.47350	0.792541464948	0.79061	0.6253988332573677	0.62472	0.162367538727	0.18315	0.613913297653	0.54869	T	.	.	.	0.0835129	0.62450	D	-0.117816	0.61982	T	0.946590483188629	0.62503	D	0.790821	0.43180	T	.	.	.	.	.	.	.	.	-6.658	0.51493	T	.	.	0.947	0.86575	P	.	.	3.457030	0.48168	22.6	0.99726346640516361	0.82406	0.87670	0.47287	D	AEFDBHCI	0.334004	0.43291	N	0.43266425900824	0.63228	4.552434	0.267884646439281	0.53674	3.535174	0.999994960590163	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	0.586	0.16618	2.212000	0.42474	2.756000	0.34570	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.7154:0.0:0.2846:0.0	9.132	0.36011	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	59.91	77	chr10	125003491	.	A	T	59.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=3.46;DP=697;ExcessHet=0;FS=7.786;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.333;MQ=59.23;MQRankSum=-7.442;QD=0.88;ReadPosRankSum=-1.947;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,6:68:65:0|1:125003488_G_A:65,0,2585:125003488	2	0	1	7
chr10	125003493	125003493	-	TCACAAATTCTGTCCAA	splicing	CTBP2	NM_001290214:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321013:exon3:c.59-1->TTGGACAGAATTTGTGA;NM_001329:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001290215:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321012:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321014:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001083914:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001363508:exon2:c.263-1->TTGGACAGAATTTGTGA;NM_022802:exon2:c.1679-1->TTGGACAGAATTTGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	54.06	72	chr10	125003493	.	C	CTCACAAATTCTGTCCAA	54.06	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.96;DP=682;ExcessHet=0;FS=7.786;InbreedingCoeff=-0.0846;MLEAC=1;MLEAF=0.056;MQ=59.24;MQRankSum=-7.442;QD=0.79;ReadPosRankSum=-2.756;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,6:68:65:0|1:125003488_G_A:65,0,2585:125003488	8	0	1	1
chr10	125576858	125576858	G	A	exonic	TEX36	.	nonsynonymous SNV	TEX36:NM_001318133:exon4:c.C281T:p.T94M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00339457	0.0058	0	0.0053	0	0	0.0086	0	0.0051	0.0013842	214	154602	rs77774010	0.0098	0.0093	0.0100	0.0097	0.0148	0.0097	0.0097	0.0122	0.0113	0.0012	0.0054	0.0053	5.597e-05	0.0100	0.0148	0.0111	0.0094	0.0040	0.0071	0.0071	0.0071	0.0072	0.0111	0.0068	0.0066	0.0104	0.0102	0.0018	0.0033	0.0056	0.0055	0	0.0086	0.0102	0.0111	0.0137	0.0050	0.064	0.36509	T	0.068	0.44106	T	0.98	0.59353	D	0.541	0.48869	P	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.83	0.22727	N	0.068	0.04072	-1.0342	0.19109	T	0.070	0.28740	T	8	0.005066544	0.00109	T	.	.	.	0.069	0.20116	.	.	0.115124310173	0.11017	.	.	.	.	.	.	.	0.015888	0.13236	T	-0.71423	0.00030	T	-0.787688	0.02229	T	0.00483143693266006	0.00052	T	0.405359	0.10397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14751	B	.	.	0.545452	0.09141	5.923	0.90987877252136895	0.20237	0.00587	0.02638	N	AEFBI	0.025843	0.01838	N	-0.519285017956033	0.21456	1.138853	-0.78107368167306	0.14959	0.7843592	3.26355241941716E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.07	-0.0915	0.12996	-0.104000	0.10893	-0.314000	0.10017	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.0:0.5823:0.0	4.337	0.10527	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	1703.43	35	chr10	125576858	.	G	A	1703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=485;ExcessHet=0;FS=5.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.849;SOR=0.378	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1715,0,1827	9	0	1	0
chr10	132922700	132922700	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1265T:p.T422M	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0396085375064	.	0.00219649	0.0019	0.0007	0.0031	0	0	0.0014	0.0063	0.0026	0.0005498	85	154602	rs140185143	0.0012	0.0012	0.0012	0.0013	0.0078	0.0012	0.0012	0.0059	0.0053	0.0006	0.0029	0.0030	0	0.0001	0.0078	0.0010	0.0020	0.0029	0.0011	0.0011	0.0011	0.0011	0.0033	0.0010	0.0009	0.0024	0.0021	0.0003	0	0.0031	0.0026	0.0002	0	0.0068	0.0011	0.0009	0.0033	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.1	0.28497	N	0.127	0.12055	-0.9085	0.47037	T	0.117	0.41142	T	6	0.008535087	0.00193	T	0.039609	0.58906	D	0.048	0.13305	.	.	0.0297737177859	0.01360	0.07209480817403437	0.07146	0.441977436044	0.44176	0.400841325521	0.25186	T	0.027875	0.20317	T	-0.610348	0.00126	T	-0.647164	0.09154	T	0.00700018913881569	0.00080	T	0.792521	0.43410	T	0.021688124	0.00785	0.0491156	0.07439	0.021688124	0.00784	0.0491156	0.07439	-5.299	0.39933	T	.	.	0.096	0.15520	B	.	.	2.345217	0.30063	18.32	0.99152462879613545	0.53848	0.00391	0.01965	N	AEFDBI	0.031433	0.03361	N	-0.912366698047863	0.10552	0.5047728	-1.13015712784796	0.07129	0.3456308	0.30643274557909	0.19242	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.28	-3.1	0.04991	-0.010000	0.12681	0.354000	0.17507	-0.148000	0.12190	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.3834:0.1371:0.4795:0.0	6.306	0.20344	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	378.43	34	chr10	132922700	.	G	A	378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.185;DP=351;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.673;SOR=0.242	GT:AD:DP:GQ:PL	0/1:16,15:31:99:390,0,454	9	0	1	0
chr10	133285549	133285549	G	A	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon11:c.C1412T:p.A471V,TUBGCP2:NM_006659:exon12:c.C1802T:p.A601V,TUBGCP2:NM_001256617:exon13:c.C1886T:p.A629V	.	.	.	.	.	.	.	.	.	.	.	2806326	TUBGCP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.00488816747836	0.0015	0.000599042	0.0013	0.0002	0.0016	0	0.0004	0.0019	0.0027	0	0.0011707	181	154602	rs151132456	0.0015	0.0015	0.0015	0.0015	0.0020	0.0014	0.0014	0.0017	0.0017	0.0004	0.0013	0.0011	2.55e-05	0.0002	0.0020	0.0018	0.0012	0.0001	0.0011	0.0011	0.0012	0.0011	0.0020	0.0010	0.0009	0.0017	0.0016	0.0003	0	0.0009	0.0009	0.0002	0	0	0.0020	0.0019	0.0002	0.288	0.15098	T	0.58	0.08505	T	0.0	0.02946	B	0.002	0.06944	B	0.005351	0.32875	N	0.317642	0.847189	0.28548	N	0.77	0.19370	N	3.16	0.07711	T	-0.54	0.16598	N	0.148	0.16725	-1.0331	0.19459	T	0.017	0.06902	T	10	0.0070544183	0.00160	T	0.004888	0.12286	T	0.093	0.26882	.	.	0.350746614512	0.34690	0.1273686833401027	0.12662	0.283872200585	0.30823	0.384883344173	0.22947	T	0.061442	0.31654	T	-0.588928	0.00170	T	-0.624278	0.10853	T	0.0345132128438498	0.02725	T	0.817118	0.47476	T	0.019753672	0.00512	0.027829662	0.00966	0.019753672	0.00512	0.027829662	0.00966	-3.807	0.21988	T	.	.	0.064	0.02670	B	.;.;.;.;.	.;.;.;.;.	2.050683	0.26070	16.99	0.38200669053738129	0.02562	0.81415	0.40823	D	AEFGBI	0.103555	0.20744	N	-0.190125555571483	0.33543	1.904297	-0.0603988487977531	0.37045	2.163705	0.942386082329209	0.27520	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	4.62	0.56946	7.174000	0.77176	4.162000	0.42217	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	0.7657:0.0:0.2343:0.0	4.193	0.09888	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	0	0	1	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1689.43	35	chr10	133285549	.	G	A	1689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.459;DP=463;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1701,0,1666	9	0	1	0
chr11	230474	230474	G	T	exonic	SIRT3	.	nonsynonymous SNV	SIRT3:NM_001370312:exon3:c.C593A:p.P198H,SIRT3:NM_001017524:exon4:c.C359A:p.P120H,SIRT3:NM_001370310:exon4:c.C785A:p.P262H,SIRT3:NM_001370314:exon4:c.C785A:p.P262H,SIRT3:NM_001370315:exon4:c.C542A:p.P181H,SIRT3:NM_001370318:exon4:c.C359A:p.P120H,SIRT3:NM_001370319:exon4:c.C359A:p.P120H,SIRT3:NM_001370320:exon4:c.C359A:p.P120H,SIRT3:NM_001370321:exon4:c.C359A:p.P120H,SIRT3:NM_001370322:exon4:c.C359A:p.P120H,SIRT3:NM_001370323:exon4:c.C359A:p.P120H,SIRT3:NM_001370324:exon4:c.C359A:p.P120H,SIRT3:NM_001370325:exon4:c.C359A:p.P120H,SIRT3:NM_012239:exon4:c.C785A:p.P262H	.	420	1092	9	1	0	11	0.00501139	.	.	.	712769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0105	0.0091853	0.0061	0.0240	0.0071	0	0.0002	0.0051	0.0107	0.0022	0.0059702	923	154602	rs61748606	0.0055	0.0055	0.0056	0.0055	0.0205	0.0054	0.0054	0.0192	0.0186	0.0205	0.0081	0.0012	0	0.0005	0.0167	0.0056	0.0071	0.0019	0.0098	0.0098	0.0103	0.0094	0.0230	0.0094	0.0093	0.0218	0.0213	0.0230	0	0.0082	0.0012	0	0.0002	0.0102	0.0055	0.0118	0.0023	0.022	0.61437	D	0.064	0.56192	T	0.979	0.59044	D	0.736	0.60045	P	0.064507	0.02178	N	1.908390	1	0.08975	N	1.12	0.28775	L	1.0	0.41392	T	-2.05	0.54546	N	0.209	0.29659	-1.0071	0.27819	T	0.109	0.39462	T	10	0.0055104196	0.00122	T	.	.	.	0.161	0.41658	.	.	0.497741790239	0.49410	0.46620834644221054	0.46539	0.304552870567	0.32758	0.236016750336	0.02443	T	0.116518	0.43592	T	-0.43035	0.01475	T	-0.37202	0.36652	T	0.0303873094741516	0.02049	T	0.841716	0.54988	T	0.17512874	0.38354	0.15006863	0.35407	0.17512874	0.38354	0.15006863	0.35406	-5.407	0.40987	T	.	.	0.098	0.20352	B	.;.;.;.;.	.;.;.;.;.	3.278097	0.44906	22.0	0.99035522111742103	0.50895	0.13440	0.17857	N	AEFBI	0.123716	0.23945	N	-0.154555400701323	0.35041	2.007767	-0.323520100368941	0.27341	1.516446	0.67757721930716	0.22442	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.31	2.06	0.25932	1.695000	0.37381	4.667000	0.44262	0.676000	0.76740	0.105000	0.22895	0.945000	0.28875	0.316000	0.24877	0.0:0.1215:0.5023:0.3762	9.247	0.36695	774	0.48577	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.040404	0.023098	0.017544	0.000000	0.008621	0.006098	0.007576	0.05	1987.43	51	chr11	230474	.	G	T	1987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.702;DP=512;ExcessHet=0;FS=1.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.47;SOR=0.796	GT:AD:DP:GQ:PL	0/1:88,84:172:99:1999,0,2086	9	0	1	0
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1847.45	744	chr11	1017471	.	C	*	1847.45	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.946;DP=6380;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.1;MQ=55.91;MQRankSum=-7.165;QD=0.57;ReadPosRankSum=2.72;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:439,63:523:99:0|1:1017465_C_*:1319,0,18265:1017465	8	0	2	0
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	141.74	751	chr11	1017475	.	T	*	141.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.75;DP=6320;ExcessHet=0.7463;FS=3.013;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=56.57;MQRankSum=-4.029;QD=0.08;ReadPosRankSum=5.58;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:440,63:523:99:.:.:1300,0,18555:.	8	0	2	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.85	245	chr11	1018228	.	G	*	468.85	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.67;DP=2185;ExcessHet=7.0302;FS=18.309;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=56.96;MQRankSum=-9.438;QD=0.31;ReadPosRankSum=-2.147;SOR=2.537	GT:AD:DP:GQ:PL	0/1:188,16:217:88:88,0,8098	5	0	5	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	0/1:241,28:288:99:.:.:450,0,10035:.	3	0	7	0
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	0/1:225,132:357:99:.:.:4685,0,8526:.	3	0	6	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3473.36	290	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3473.36	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.79;DP=4369;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=2;MLEAF=0.143;MQ=57.65;MQRankSum=-5.608;QD=1.86;ReadPosRankSum=0.636;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:225,132:357:99:.:.:4685,0,8526:.	5	0	2	3
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	0/1:225,132:357:99:.:.:4685,0,8526:.	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	0/1:225,132:357:99:.:.:4685,0,8526:.	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	0/1:225,132:357:99:.:.:4685,0,8526:.	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	0/1:225,132:357:99:.:.:4685,0,8526:.	1	0	5	4
chr11	1096825	1096825	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1304715576	0.0029	0.0037	0.0029	0.0029	0.0097	0.0028	0.0027	0.0082	0.0076	0.0052	0.0066	0.0051	0.0097	0.0069	0.0030	0.0021	0.0034	0.0043	0.0013	0.0029	0.0014	0.0012	0.0054	0.0002	9.588e-05	.	.	0.0054	.	0	0	0	0.0057	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	.	.	.	.	.	.	.	.	0.05556	32.05	30	chr11	1096825	.	C	T	32.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.771;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=42.84;MQRankSum=-0.44;QD=1.28;ReadPosRankSum=-1.156;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,5:25:43:43,0,421	8	0	1	1
chr11	1097253	1097253	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	638	875	8	0	1	9	0.00455063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0298371299834	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179715210	0.0027	0.0052	0.0027	0.0027	0.0097	0.0026	0.0025	0.0086	0.0082	0.0097	0.0029	0.0052	0.0069	0.0056	0.0037	0.0021	0.0053	0.0006	0.0033	0.0072	0.0031	0.0035	0.0093	0.0030	0.0029	0.0064	0.0054	0.0054	0.0016	0.0015	0.0033	0.0093	0.0024	0	0.0023	0.0023	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015856	0.005319	0.027523	0.015152	0.000000	0.075000	0.019231	0.009804	0.15	876.45	74	chr11	1097253	.	C	A	876.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.965;DP=2442;ExcessHet=0.7463;FS=4.605;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=38.84;MQRankSum=-1.552;QD=0.89;ReadPosRankSum=-2.798;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,22:294:55:0|1:1097198_G_A:55,0,9405:1097198	7	0	3	0
chr11	1097560	1097564	AACGA	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0034	0.0020	0.0022	0.0032	0.0020	0.0020	0.0020	0.0019	0.0024	0.0023	0.0035	0.0020	0.0085	0.0032	0.0018	0.0026	0.0023	0.0016	0.0013	0.0012	0.0020	0.0020	0.0013	0.0012	0.0016	0.0014	0.0013	0.0035	0.0018	0.0011	0.0016	0.0008	0	0.0020	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	52.69	25	chr11	1097559	.	CAACGA	C	52.69	.	AC=1;AF=0.063;AN=16;BaseQRankSum=3.02;DP=1682;ExcessHet=0;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=51.22;MQRankSum=-8.04;QD=0.42;ReadPosRankSum=-3.922;SOR=0.702	GT:AD:DP:GQ:PL	0/1:94,30:124:63:63,0,3408	7	0	1	2
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	800.03	21	chr11	1097561	.	A	*	800.03	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.091;DP=1706;ExcessHet=0.8432;FS=6.25;InbreedingCoeff=-0.2695;MLEAC=1;MLEAF=0.1;MQ=53.2;MQRankSum=-3.738;QD=1.56;ReadPosRankSum=3.04;SOR=1.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,30:124:63:.:.:63,0,3408:.	4	0	1	5
chr11	1097563	1097563	G	0	exonic	MUC2	.	.	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2029.19	24	chr11	1097563	.	G	*	2029.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.18;DP=1708;ExcessHet=0.2348;FS=1.336;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=54.01;MQRankSum=2.25;QD=5.44;ReadPosRankSum=0.903;SOR=0.611	GT:AD:DP:GQ:PL	0/1:94,30:124:63:63,0,3408	8	0	1	1
chr11	1102596	1102596	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00882366438609	.	.	5.026e-05	0.0001	8.679e-05	0	0	6.098e-05	0	0	3.88e-05	6	154602	rs779527580	6.026e-05	6.02e-05	6.404e-05	5.644e-05	0.0002	4.966e-05	4.631e-05	5.623e-05	5.196e-05	5.974e-05	2.236e-05	0	7.557e-05	0	0.0002	6.926e-05	6.628e-05	0	5.254e-05	5.252e-05	3.852e-05	6.721e-05	0.0001	2.556e-05	1.829e-05	3.761e-05	2.574e-05	0	0	0.0001	0	0	0	0	8.817e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999992	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0062	0.28095	T	0.081	0.32090	T	9	0.10357955	0.19048	T	0.008824	0.23269	T	.	.	.	.	.	.	0.2156394443519796	0.21479	.	.	0.458770096302	0.33141	T	0.026614	0.19659	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.23952	B	.	.	1.863782	0.23674	16.11	0.98494126503951751	0.42132	0.19307	0.20609	N	AEFDBI	0.228325	0.35201	N	-0.625924883890172	0.18168	0.9410923	-0.726032395337505	0.16313	0.8624128	0.017691220320077	0.12979	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.95	-0.785	0.10397	-0.145000	0.10248	-1.465000	0.05378	0.467000	0.21759	0.001000	0.13787	0.000000	0.08366	0.965000	0.52897	0.6681:0.3319:0.0:0.0	13.781	0.62569	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1391.43	38	chr11	1102596	.	C	G	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.785;DP=450;ExcessHet=0;FS=8.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.609;SOR=1.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,58:125:99:1|0:1102586_C_T:1403,0,2594:1102586	9	0	1	0
chr11	1184497	1184497	C	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6352A:p.P2118T	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403306679	6.078e-06	1.272e-05	4.346e-06	7.591e-06	3.651e-05	1.62e-06	4.5e-07	1.15e-06	4.3e-07	0	3.651e-05	0	0	0	0	6.91e-06	0	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.544e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.544e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.17039624	0.31701	T	.	.	.	.	.	.	.	.	.	0.13737709937010462	0.13661	.	.	.	.	.	0.511669	0.82748	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.302	0.81288	D	.	.	0.206	0.43227	B	.	.	1.066217	0.14482	11.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.105000	0.10876	1.589000	0.27519	0.429000	0.20894	0.000000	0.06391	0.002000	0.18203	0.012000	0.09680	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5545.43	71	chr11	1184497	.	C	A	5545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=1471;ExcessHet=0;FS=2.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.8;MQRankSum=-1.762;QD=12.46;ReadPosRankSum=-0.615;SOR=0.515	GT:AD:DP:GQ:PL	0/1:227,218:445:99:5557,0,5778	9	0	1	0
chr11	1254776	1254776	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon35:c.G15560A:p.R5187H	.	407	1088	26	1	0	28	0.0127042	.	.	.	496969	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0012	0.00319489	0.0028	0.0001	0.0009	0	0	0.0026	0.0034	0.0087	0.0025938	401	154602	rs201530874	0.0020	0.0020	0.0016	0.0023	0.0139	0.0019	0.0019	0.0114	0.0105	0.0004	0.0015	0.0172	0	0.0001	0.0139	0.0012	0.0033	0.0085	0.0021	0.0021	0.0020	0.0022	0.0102	0.0019	0.0018	0.0079	0.0071	0.0002	0	0.0031	0.0190	0.0002	0	0.0238	0.0020	0.0028	0.0102	0.549	0.06606	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	0.23	0.59717	T	-0.07	0.08033	N	0.26	0.29429	-0.9434	0.42073	T	0.128	0.43605	T	9	0.0056170225	0.00125	T	.	.	.	0.088	0.25558	.	.	0.229543500084	0.22568	0.49850178030556436	0.49771	.	.	0.201641201973	0.00506	T	0.013289	0.11520	T	-0.532738	0.00370	T	-0.532045	0.19083	T	0.0109296992694224	0.00157	T	0.49905	0.15565	T	0.03054761	0.02737	0.03566126	0.02861	0.03054761	0.02736	0.03566126	0.02861	-3.371	0.14669	T	.	.	0.076	0.06114	B	.	.	0.904501	0.12785	9.303	0.59249882375432639	0.06180	0.06154	0.12135	N	AEFBCI	0.064271	0.12470	N	-0.774044062322131	0.13989	0.6932659	-0.907556955658707	0.11916	0.6099491	8.25008338032791E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.98	0.676	0.17125	-1.365000	0.02694	-2.084000	0.04237	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3387:0.0:0.4753:0.186	3.261	0.06444	946	0.12043	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009082	0.000000	0.004110	0.008772	0.000000	0.025862	0.024390	0.003788	0.05	2068.43	37	chr11	1254776	.	G	A	2068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=521;ExcessHet=0;FS=5.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=2.28;SOR=1.046	GT:AD:DP:GQ:PL	0/1:106,90:196:99:2080,0,2346	9	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1426	88	8	0	104	0.0351827	.	.	.	134325	Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014691	0.005208	0.004076	0.026316	0.000000	0.017241	0.027607	0.018939	0.05	1425.43	35	chr11	1754122	.	C	T	1425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.831;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.684;SOR=0.634	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1437,0,1133	9	0	1	0
chr11	2299635	2299635	-	G	exonic	C11orf21	.	frameshift insertion	C11orf21:NM_001329958:exon3:c.219dupC:p.T74Hfs*4,C11orf21:NM_001142946:exon4:c.357dupC:p.T120Hfs*4	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00499201	0.0020	0	0	0.0257	0	0.0006	0.0049	0.0025	0.0005369	83	154602	rs3214127	0.0012	0.0012	0.0011	0.0013	0.0377	0.0012	0.0012	0.0360	0.0353	0	0.0001	0.0019	0.0377	0	0.0005	9.083e-05	0.0015	0.0018	0.0013	0.0014	0.0011	0.0016	0.0338	0.0012	0.0011	0.0297	0.0281	0	0	6.536e-05	0.0020	0.0338	0	0	0.0002	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003578	0.000000	0.006944	0.000000	0.000000	0.000000	0.008772	0.000000	0.05	1279.39	34	chr11	2299635	.	T	TG	1279.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=395;ExcessHet=0;FS=2.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.405;SOR=0.525	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1291,0,1080	9	0	1	0
chr11	2922506	2922506	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon8:c.A743G:p.N248S,SLC22A18:NM_001315501:exon10:c.A1292G:p.N431S,SLC22A18:NM_002555:exon10:c.A1037G:p.N346S,SLC22A18:NM_183233:exon10:c.A1037G:p.N346S	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.117548589647	7.7e-05	.	8.828e-06	0	0	0	0	0	0	6.478e-05	6.5e-06	1	154602	rs143509928	4.107e-06	4.104e-06	2.724e-06	5.504e-06	4.644e-05	1.48e-06	9.7e-07	1.584e-05	9.31e-06	0	0	0	0	0	0	8.994e-07	1.657e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.26629	T	0.109	0.39190	T	0.097	0.38380	B	0.056	0.39801	B	0.005938	0.32398	N	0.288442	0.999995	0.08975	N	2.065	0.56745	M	-1.42	0.80645	T	-1.99	0.56945	N	0.466	0.51226	-0.7497	0.57951	T	0.345	0.70996	T	10	0.18368408	0.33707	T	0.117549	0.79735	D	0.244	0.55061	.	.	0.803246272748	0.80140	0.24764755615228815	0.24678	0.21105830166	0.23610	0.545429646969	0.45212	T	0.004715	0.04123	T	-0.00425815	0.51066	T	-0.243893	0.50417	T	0.177340939640999	0.19066	T	0.788921	0.44280	T	0.058431935	0.11754	0.058048602	0.10660	0.058431935	0.11753	0.058048602	0.10660	-4.131	0.25745	T	.	.	0.128	0.27373	B	.;.;.;.;.	.;.;.;.;.	1.266732	0.16649	12.68	0.97170742062610493	0.32673	0.60470	0.31205	D	AEFDBI	0.284379	0.39725	N	-0.299505146179327	0.29167	1.615113	-0.243187699455136	0.30007	1.685839	0.665632040532872	0.22319	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.75	3.63	0.40741	1.748000	0.37935	2.537000	0.33196	0.740000	0.86194	0.986000	0.36153	0.874000	0.27626	0.303000	0.24570	0.6296:0.1813:0.1891:0.0	4.035	0.09209	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	508.43	39	chr11	2922506	.	A	G	508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.369;DP=424;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=0.081;SOR=0.774	GT:AD:DP:GQ:PL	0/1:52,28:80:99:520,0,1209	9	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	354.06	81	chr11	4488904	.	C	T	354.06	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.926;DP=903;ExcessHet=2.8389;FS=192.49;InbreedingCoeff=-0.3214;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.25;SOR=11.326	GT:AD:DP:GQ:PL	0/1:59,22:94:50:50,0,900	7	0	3	0
chr11	5454368	5454368	G	A	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.G880A:p.A294T	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0110459718147	0.0058	0.00259585	0.0053	0.0012	0.0023	0.0003	0.0051	0.0080	0.0033	0.0019	0.005194	803	154602	rs139102367	0.0068	0.0068	0.0070	0.0066	0.0133	0.0067	0.0066	0.0109	0.0101	0.0013	0.0029	0.0002	0.0013	0.0058	0.0133	0.0079	0.0065	0.0022	0.0054	0.0054	0.0057	0.0051	0.0081	0.0051	0.0050	0.0075	0.0073	0.0018	0	0.0080	0	0.0006	0.0043	0.0136	0.0081	0.0066	0.0017	0.018	0.50676	D	0.01	0.65728	D	0.008	0.14655	B	0.003	0.08700	B	0.002895	0.35770	N	0.197073	0.983774	0.40057	D	1.27	0.32069	L	1.22	0.37052	T	-0.1	0.08495	N	0.174	0.18649	-1.0122	0.26228	T	0.057	0.24130	T	10	0.0054678023	0.00121	T	0.011046	0.28270	T	0.059	0.16972	.	.	0.202086224978	0.19791	0.05591651426033309	0.05532	0.0085942019034	0.00777	0.201415508986	0.00499	T	0.00103	0.00564	T	-0.5777	0.00199	T	-0.595353	0.13205	T	0.00633887358148472	0.00070	T	0.649435	0.26018	T	0.087157644	0.20285	0.19217558	0.42717	0.087157644	0.20285	0.19217558	0.42716	-4.455	0.30296	T	.	.	0.098	0.16319	B	.;.	.;.	1.943272	0.24685	16.49	0.90722555318189568	0.19972	0.29547	0.23850	N	AEFBCI	0.249450	0.36968	N	-0.832554428285813	0.12483	0.608775	-0.772966009526977	0.15159	0.7958556	0.963517943279825	0.28696	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.45	3.61	0.40494	-1.068000	0.03558	.	.	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.249:0.0:0.751:0.0	7.716	0.27872	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.015152	0.002717	0.020468	0.050000	0.017241	0.009146	0.000000	0.05	2405.43	37	chr11	5454368	.	G	A	2405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.65;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.05;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,92:163:99:1|0:5454367_C_T:2417,0,2648:5454367	9	0	1	0
chr11	5507629	5507629	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1930A:p.D644N,UBQLN3:NM_017481:exon2:c.G1930A:p.D644N	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.00838658	0.0048	9.789e-05	0.0008	0	0	9.133e-05	0.0034	0.0362	0.0040426	625	154602	rs200545596	0.0021	0.0021	0.0012	0.0031	0.0335	0.0021	0.0021	0.0325	0.0321	0.0002	0.0001	0	7.56e-05	0	0.0005	5.94e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0019	0.0378	0.0011	0.0011	0.0333	0.0316	4.812e-05	0	0	0	0	9.42e-05	0	8.82e-05	0.0005	0.0378	0.026	0.46910	D	0.04	0.50809	D	0.634	0.40281	P	0.2	0.36839	B	0.002457	0.36537	N	0.122533	1	0.81001	D	0.41	0.12415	N	2.25	0.17761	T	-4.28	0.76334	D	0.244	0.27554	-1.0293	0.20681	T	0.030	0.13023	T	10	0.0070008636	0.00159	T	.	.	.	0.090	0.26093	.	.	0.365509141856	0.36162	0.49459139867246676	0.49380	0.0211555233201	0.02094	0.398621231318	0.24877	T	0.025852	0.19251	T	-0.634952	0.00089	T	-0.659079	0.08329	T	0.0755802667233008	0.09413	T	0.988501	0.96026	D	0.13215485	0.30781	0.13410978	0.32144	0.13215485	0.30781	0.13410978	0.32143	-4.002	0.23834	T	.	.	0.097	0.15698	B	.	.	2.280723	0.29163	18.03	0.99810393216649662	0.89442	0.80349	0.40010	D	AEFBCI	0.332261	0.43173	N	-0.212619518028817	0.32616	1.841296	-0.218118232080288	0.30887	1.742984	0.999998539221495	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.27	0.36580	2.818000	0.47741	.	.	-0.190000	0.09434	0.988000	0.36536	0.546000	0.25442	0.033000	0.13494	0.0:0.8797:0.0:0.1203	10.955	0.46564	682	0.59757	Ubiquitin-associated domain|Ubiquitin-associated domain|Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1760.43	33	chr11	5507629	.	C	T	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=449;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.896;SOR=0.496	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1772,0,1479	9	0	1	0
chr11	5947360	5947360	G	A	exonic	OR56A3	.	nonsynonymous SNV	OR56A3:NM_001003443:exon1:c.G14A:p.R5Q	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00129720905383	7.8e-05	.	0.0003	0	0.0024	0	0	1.534e-05	0	0	0.000194	30	154602	rs372649269	6.992e-05	7.524e-05	7.966e-05	6.002e-05	0.0014	5.849e-05	5.456e-05	0.0011	0.0010	6.083e-05	0.0014	0.0004	0	0	0	2.27e-05	6.723e-05	2.346e-05	8.543e-05	8.538e-05	0.0001	5.381e-05	0.0003	4.958e-05	3.963e-05	8.88e-05	5.388e-05	7.238e-05	0	0.0003	0	0.0002	0	0	5.88e-05	0	0.0002	1.0	0.00964	T	0.675	0.06205	T	0.0	0.02946	B	0.0	0.01387	B	0.933004	0.07547	N	1.034940	1	0.08975	N	-0.145	0.04423	N	1.2	0.37405	T	0.58	0.02598	N	0.017	0.00226	-1.0052	0.28397	T	0.037	0.16160	T	10	0.012346774	0.00266	T	0.001297	0.01809	T	0.022	0.04323	.	.	0.276065633971	0.27208	0.13950535766227104	0.13873	0.093218127879	0.10534	0.21162211895	0.00882	T	0.018335	0.14797	T	-0.657004	0.00066	T	-0.735531	0.04081	T	0.0260538466175855	0.01413	T	0.40026	0.10182	T	0.017643455	0.00290	0.027518827	0.00911	0.017643455	0.00290	0.027518827	0.00911	-3.632	0.18321	T	.	.	0.073	0.04599	B	.;.;.	.;.;.	-0.827932	0.01053	0.045	0.65405615504754644	0.07763	0.00663	0.02868	N	AEFBI	0.035453	0.04568	N	-1.49574698123251	0.01880	0.08246946	-1.54299578586319	0.02025	0.09252993	4.1948078486619E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	-5.52	0.02358	-1.237000	0.03032	.	.	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3543:0.1407:0.5049:0.0	8.137	0.30221	708	0.56926	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1363.43	33	chr11	5947360	.	G	A	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=445;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.786;SOR=0.573	GT:AD:DP:GQ:PL	0/1:80,55:135:99:1375,0,1961	9	0	1	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA,SMPD1:NM_001007593:exon1:c.107_108insGGC:p.V36_L37insA,SMPD1:NM_001318087:exon1:c.107_108insGGC:p.V36_L37insA,SMPD1:NM_001365135:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	66	5	343	388	720	1839	0.991143	.	.	.	526543	not_specified|Niemann-Pick_disease,_type_A|not_provided|Niemann-Pick_disease,_type_B	MedGen:CN169374|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	21411.8	75	chr11	6390705	.	T	TGGC	21411.8	.	AC=1;AF=0.05;AN=20;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.05;MQ=60;QD=25.59;SOR=0.923	GT:AD:DP:GQ:PL	0/1:0,30:50:99:2645,666,753	9	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.14	39	chr11	6564079	.	G	C	33.14	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.812;DP=609;ExcessHet=0;FS=274.149;InbreedingCoeff=-0.2164;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=2.14;SOR=8.955	GT:AD:DP:GQ:PL	0/1:46,18:64:41:41,0,716	5	0	1	4
chr11	6785743	6785743	A	T	exonic	OR2AG1	.	stopgain	OR2AG1:NM_001004489:exon1:c.A706T:p.K236X	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	0.0023	9.612e-05	8.655e-05	0.0002	0	0	0.0011	0.0164	0.0019728	305	154602	rs201084796	0.0009	0.0009	0.0005	0.0013	0.0137	0.0008	0.0008	0.0131	0.0128	5.974e-05	0	0	0	0	0.0007	6.295e-06	0.0014	0.0137	0.0005	0.0006	0.0004	0.0007	0.0168	0.0004	0.0004	0.0138	0.0128	0	0	6.539e-05	0	0.0002	0	0	0	0	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	0.000049	0.53742	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.237	0.26717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275197	0.80900	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	9.664386	0.99190	42	0.99581336188606528	0.73040	0.97336	0.74107	D	AEFGI	0.051799	0.09188	N	0.759485635637196	0.83520	8.039226	0.606721467052145	0.75427	6.309	0.0645296332975208	0.15332	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	4.080000	0.57342	10.807000	0.83807	0.713000	0.85321	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.793	0.51352	507	0.75469	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3376.43	206	chr11	6785743	.	A	T	3376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.47;DP=1647;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=1.04;QD=14.01;ReadPosRankSum=0.099;SOR=0.618	GT:AD:DP:GQ:PL	0/1:117,124:241:99:3388,0,3106	9	0	1	0
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	281.74	73	chr11	10559867	.	G	A	281.74	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.365;DP=886;ExcessHet=1.5895;FS=223.429;InbreedingCoeff=-0.333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.159;SOR=9.766	GT:AD:DP:GQ:PL	0/1:71,32:103:83:83,0,1225	4	0	4	2
chr11	17501054	17501054	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon17:c.C1420T:p.H474Y,USH1C:NM_005709:exon18:c.C1477T:p.H493Y,USH1C:NM_153676:exon23:c.C2377T:p.H793Y	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	918345	not_specified|Usher_syndrome_type_1|Usher_syndrome_type_1C|Autosomal_recessive_nonsyndromic_hearing_loss_18A|not_provided|Retinal_dystrophy|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0368156333547	7.7e-05	.	5.483e-05	0	0	0	0	9.962e-05	0	0	3.88e-05	6	154602	rs372227474	5.613e-05	5.746e-05	5.857e-05	5.366e-05	0.0042	4.613e-05	4.239e-05	0.0029	0.0024	0	0	0	0	0	0.0042	4.588e-05	8.284e-05	2.321e-05	5.251e-05	5.249e-05	6.422e-05	4.027e-05	0.0001	2.555e-05	1.828e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.003	0.91255	D	0.0	0.92824	D	0.991	0.64070	D	0.99	0.78936	D	0.001912	0.37691	N	0.230078	0.999886	0.50402	D	1.905	0.50856	L	1.56	0.29602	T	-2.87	0.62343	D	0.802	0.79792	-0.8962	0.48370	T	0.183	0.53057	T	10	0.75131774	0.75658	D	0.036816	0.57230	D	0.178	0.44724	.	.	0.697512050345	0.69490	0.7534891188033478	0.75295	0.412284758996	0.41973	0.696432709694	0.66629	T	0.217512	0.57998	T	-0.0460403	0.45046	T	-0.0885751	0.64270	T	0.416295014187817	0.29553	T	0.958704	0.85096	D	0.4117519	0.61538	0.3995185	0.64513	0.4117519	0.61538	0.3995185	0.64513	-8.618	0.65778	D	.	.	0.508	0.69115	A	.;.;.;.	.;.;.;.	4.564832	0.71961	25.8	0.99768482520986057	0.85666	0.97255	0.73611	D	AEFDBI	0.955033	0.97257	D	0.497460350861354	0.66941	5.015858	0.504125274649023	0.68267	5.196595	0.999999999729673	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.925000	0.86993	11.619000	0.93604	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:0.0:1.0:0.0	17.838	0.88618	835	0.38313	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ 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	0.002018	0.000000	0.000000	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	1203.43	34	chr11	17501054	.	G	A	1203.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.471;DP=441;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-1.317;SOR=0.703	GT:AD:DP:GQ:PL	0/1:77,53:130:99:1215,0,2020	9	0	1	0
chr11	32954076	32954076	T	C	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon5:c.T4397C:p.I1466T	.	423	1086	12	1	0	14	0.00640439	.	.	.	3308356	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.0379090316982	0.0014	0.000399361	0.0015	0.0008	0.0010	0	0	0.0017	0	0.0024	0.0015071	233	154602	rs201036288	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0011	0	2.519e-05	0.0001	0.0014	0.0029	0.0028	0.0024	0.0012	0.0012	0.0014	0.0010	0.0021	0.0011	0.0010	0.0018	0.0017	0.0006	0	0.0009	0.0003	0	0	0.0034	0.0021	0.0014	0.0010	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.946	0.68276	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.64	0.27822	T	-3.07	0.63207	D	0.759	0.75742	-0.2594	0.76104	T	0.405	0.75487	T	10	0.01822859	0.00395	T	0.037909	0.57903	D	0.366	0.68582	.	.	0.187035705434	0.18338	0.45836074342984634	0.45754	0.509821056662	0.49115	0.468420743942	0.34463	T	0.217508	0.57997	T	-0.0463307	0.45003	T	0.158567	0.80718	D	0.0213190037330168	0.00834	T	0.956004	0.83260	D	0.47408083	0.65540	0.49491948	0.70789	0.47408083	0.65541	0.49491948	0.70790	-3.436	0.15545	T	.	.	0.497	0.64426	A	.;.	.;.	4.407633	0.68162	25.2	0.99879176132692116	0.95572	0.98661	0.85270	D	AEFBI	0.888606	0.82190	D	0.531078852286149	0.68938	5.28653	0.598988692807381	0.74867	6.210746	0.999999980872158	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.674000	0.83146	6.158000	0.54298	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.371	0.83195	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	2306.43	40	chr11	32954076	.	T	C	2306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.434;DP=498;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-1.265;SOR=0.712	GT:AD:DP:GQ:PL	0/1:61,90:151:99:2318,0,1415	9	0	1	0
chr11	48127926	48127926	G	A	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.G1240A:p.V414I,PTPRJ:NM_002843:exon7:c.G1240A:p.V414I	Colon cancer, somatic	0	1499	22	1	0	24	0.00794176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0116705615504	0.0004	0.00119808	0.0015	9.614e-05	0.0012	0.0003	0	0.0018	0.0044	0.0024	0.0013713	212	154602	rs140746006	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0013	0.0034	0.0030	0.0001	0.0005	0.0114	0.0004	5.616e-05	0.0049	0.0011	0.0015	0.0026	0.0011	0.0011	0.0012	0.0009	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0.0230	0.0007	0.0101	0.0006	0	0.0068	0.0009	0.0019	0.0029	0.096	0.35918	T	0.594	0.40110	T	0.059	0.23051	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	1.25	0.31749	L	0.26	0.59314	T	-0.62	0.18248	N	0.043	0.01825	-1.0061	0.28126	T	0.118	0.41495	T	9	0.0033520758	0.00058	T	0.011671	0.29526	T	0.039	0.10176	.	.	0.328222422547	0.32431	0.2921843347707631	0.29131	0.208503196432	0.23322	0.294899940491	0.09643	T	0.06741	0.44670	T	-0.617045	0.00115	T	-0.664977	0.07935	T	0.000985619673784683	0.00009	T	0.349965	0.09588	T	0.02441966	0.01271	0.03101305	0.01631	0.025697712	0.01537	0.03845338	0.03716	-4.763	0.37950	T	.	.	0.094	0.16451	B	.;.;.;.	.;.;.;.	-0.151438	0.03348	0.591	0.90513917160501089	0.19770	0.04068	0.09521	N	AEFDGBI	0.041382	0.06283	N	-0.968431354754305	0.09283	0.4387319	-1.0398285619423	0.08919	0.4410208	0.997113070358759	0.35288	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	0.689	0.17197	-0.159000	0.10043	.	.	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2492:0.0:0.3978:0.353	3.736	0.08038	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.009146	0.000000	0.05	2456.43	35	chr11	48127926	.	G	A	2456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=538;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.359;SOR=0.554	GT:AD:DP:GQ:PL	0/1:126,100:226:99:2468,0,2996	9	0	1	0
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V	.	428	1078	15	1	0	17	0.00782329	.	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1871.43	38	chr11	54603676	.	G	A	1871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.955;DP=898;ExcessHet=0;FS=4.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.62;MQRankSum=-0.086;QD=13.18;ReadPosRankSum=0.36;SOR=0.821	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1883,0,2095	9	0	1	0
chr11	59861593	59861593	C	T	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon4:c.G490A:p.A164T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00200100236893	.	0.000399361	6.59e-05	9.61e-05	0	0.0001	0	7.493e-05	0	6.056e-05	7.12e-05	11	154602	rs77116206	3.147e-05	3.147e-05	2.45e-05	3.85e-05	0.0002	2.412e-05	2.158e-05	2.995e-05	2.038e-05	5.974e-05	4.472e-05	0	2.52e-05	3.744e-05	0.0002	2.698e-05	3.312e-05	6.956e-05	5.912e-05	5.906e-05	7.712e-05	4.03e-05	8.821e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	2.408e-05	0	6.536e-05	0	0	9.429e-05	0	8.821e-05	0	0	0.809	0.03044	T	0.655	0.06621	T	0.001	0.07471	B	0.001	0.04355	B	0.336276	0.04160	N	1.470240	1	0.08975	N	-1.115	0.00953	N	1.32	0.35219	T	-0.2	0.10136	N	0.058	0.02964	-1.0399	0.17343	T	0.024	0.10058	T	10	0.027322263	0.00880	T	0.002001	0.03615	T	0.080	0.23350	.	.	0.128392430309	0.12331	0.06623236863472835	0.06562	0.015659296278	0.01497	0.322677075863	0.13826	T	0.010645	0.09594	T	-0.557212	0.00264	T	-0.856645	0.00880	T	0.0341730825603008	0.02667	T	0.347765	0.07665	T	0.05061911	0.09171	0.042971984	0.05241	0.05061911	0.09171	0.042971984	0.05241	-3.276	0.13429	T	.	.	0.065	0.02038	B	.	.	-1.119676	0.00617	0.016	0.23262274505006184	0.00975	0.00252	0.01388	N	AEFBI	0.018053	0.00518	N	-2.07153816109259	0.00148	0.006328727	-2.08421172795135	0.00202	0.008880346	0.999271559193719	0.38974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.12	-8.08	0.00965	-1.512000	0.02362	-3.215000	0.02964	-1.894000	0.00530	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2916:0.245:0.2362:0.2272	0.213	0.00147	730	0.54327	.	.	.	.	.	.	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	976.43	45	chr11	59861593	.	C	T	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.073;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.514;SOR=0.786	GT:AD:DP:GQ:PL	0/1:43,43:86:99:988,0,1023	9	0	1	0
chr11	61429820	61429820	G	C	exonic	CPSF7	.	nonsynonymous SNV	CPSF7:NM_024811:exon1:c.C11G:p.P4R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.517106838397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.21	0.29968	B	0.068	0.27651	B	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	-0.02	0.07299	N	0.127	0.12055	-0.8941	0.48567	T	0.140	0.45847	T	7	0.14093202	0.26783	T	0.517107	0.95390	D	0.051	0.14325	0.22	0.14224	0.110392049598	0.10638	0.4174082070352745	0.41656	0.805347081922	0.66429	0.82470703125	0.85751	D	.	.	.	-0.0864779	0.38654	T	-0.361996	0.37820	T	0.496525049209595	0.32503	T	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-2.145	0.03782	T	.	.	0.076	0.05845	B	.	.	1.235378	0.16305	12.45	0.98340308539117038	0.40438	0.00442	0.02154	N	ALL	0.048786	0.08360	N	-0.470683958180821	0.23045	1.234779	-0.479797326298758	0.22711	1.234909	0.999999998969833	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.44	2.49	0.29274	-0.323000	0.08039	0.024000	0.13633	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:0.2539:0.7461:0.0	8.495	0.32284	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	633.43	37	chr11	61429820	.	G	C	633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.047;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.513;SOR=0.711	GT:AD:DP:GQ:PL	0/1:35,29:64:99:645,0,840	9	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	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	0/1:71,28:99:99:.:.:284,0,1311:.	0	0	10	0
chr11	62522304	62522304	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A12113G:p.K4038R,AHNAK:NM_001346446:exon5:c.A12113G:p.K4038R,AHNAK:NM_001620:exon5:c.A12113G:p.K4038R	.	428	1081	13	0	0	13	0.00597701	.	.	.	2816709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	0.0105667742358	0.0004	0.00139776	0.0017	0.0002	0.0017	0	0	0.0006	0.0022	0.0088	0.0015459	239	154602	rs141451542	0.0011	0.0011	0.0008	0.0013	0.0078	0.0010	0.0010	0.0073	0.0071	0.0002	0.0010	0	2.519e-05	1.872e-05	0.0052	0.0007	0.0012	0.0078	0.0005	0.0006	0.0005	0.0006	0.0073	0.0005	0.0004	0.0054	0.0048	9.689e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0073	0.056	0.38185	T	0.009	0.66756	D	0.033	0.20350	B	0.04	0.23831	B	0.000710	0.42254	D	0.155857	1	0.81001	D	2.255	0.64187	M	3.45	0.05311	T	-1.33	0.33197	N	0.204	0.22614	-1.0879	0.05890	T	0.025	0.10509	T	10	0.0066671073	0.00151	T	0.010567	0.27259	T	0.098	0.28162	.	.	0.0666544352282	0.05500	0.04017054820257291	0.03963	0.0251046110797	0.02556	0.26959425211	0.06088	T	0.232998	0.59969	T	-0.605529	0.00135	T	-0.637872	0.09824	T	0.0232876416859672	0.01057	T	0.729427	0.34485	T	0.047471814	0.08121	0.059443366	0.11157	0.047471814	0.08120	0.059443366	0.11156	-8.186	0.62330	D	.	.	0.119	0.24430	B	.	.	1.442932	0.18626	13.84	0.91174288749082821	0.20429	0.79151	0.39168	D	AEFBI	.	.	.	-1.04539440273977	0.07678	0.3575052	-1.1079812973771	0.07547	0.3675084	0.13573514906609	0.17178	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.39	0.513	0.16200	1.278000	0.32784	.	.	-0.353000	0.05553	0.007000	0.17678	0.000000	0.08366	0.006000	0.07323	0.0:0.2389:0.0:0.7611	8.597	0.32885	227	0.91186	.	.	.	.	.	.	Likely benign	0	0	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	2660.43	33	chr11	62522304	.	T	C	2660.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.107;DP=661;ExcessHet=0;FS=5.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0.81;QD=8.84;ReadPosRankSum=0.192;SOR=0.458	GT:AD:DP:GQ:PL	0/1:183,118:301:99:2672,0,4964	9	0	1	0
chr11	62789988	62789988	G	A	exonic	TMEM179B	.	nonsynonymous SNV	TMEM179B:NM_001363601:exon4:c.G436A:p.D146N,TMEM179B:NM_001363600:exon5:c.G559A:p.D187N,TMEM179B:NM_199337:exon5:c.G601A:p.D201N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0079040878907	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs768116893	1.847e-05	1.847e-05	1.77e-05	1.925e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	1.872e-05	0	2.338e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.047	0.40319	D	0.0	0.92824	D	0.999	0.77913	D	0.974	0.73157	D	0.000360	0.45440	D	0.224693	0.975816	0.81001	D	2.255	0.64187	M	.	.	.	-2.17	0.49018	N	0.095	0.07535	-0.4870	0.69115	T	0.309	0.67976	T	9	0.21178055	0.37617	T	0.007904	0.20955	T	0.092	0.26621	0.169	0.07419	0.269558022972	0.26553	0.3209501666749614	0.32008	0.0173837147037	0.01686	0.369395583868	0.20745	T	0.088559	0.38184	T	-0.205361	0.20036	T	-0.469118	0.25611	T	0.79795628786087	0.46215	D	0.714229	0.32652	T	0.11839952	0.27897	0.10298984	0.24700	0.11839952	0.27897	0.10298984	0.24699	-3.992	0.23683	T	.	.	0.145	0.32054	B	.	.	3.294952	0.45205	22.1	0.99912930384592635	0.98167	0.50935	0.28778	D	AEFDBHCI	0.355257	0.44705	N	0.359676879906344	0.59252	4.103152	0.303299799086285	0.55733	3.73617	0.999999974028561	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.38	4.45	0.53365	1.235000	0.32274	.	.	0.676000	0.76740	0.672000	0.28366	0.001000	0.17328	0.997000	0.79791	0.0:0.0:0.8168:0.1832	11.233	0.48153	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	.	.	.	.	.	.	.	.	0.05	1630.43	35	chr11	62789988	.	G	A	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.64;DP=473;ExcessHet=0;FS=4.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.817;SOR=0.411	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1642,0,1681	9	0	1	0
chr11	63304197	63304197	C	A	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon8:c.C1375A:p.L459I	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00938774180779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	8.995e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.997	0.70673	D	0.934	0.66904	D	0.000202	0.47681	U	0.086330	1	0.31007	N	3.06	0.86941	M	-0.87	0.74583	T	-1.67	0.39887	N	0.493	0.52651	-0.2649	0.75953	T	0.320	0.68882	T	10	0.8408878	0.83245	D	0.009388	0.24623	T	0.387	0.70358	0.745	0.87654	0.224531998449	0.22054	0.25533786640901246	0.25447	0.105735292603	0.11956	0.523734271526	0.42152	T	0.100075	0.40551	T	-0.0432903	0.45458	T	-0.29996	0.44728	T	0.886102676391602	0.53649	D	0.691131	0.30052	T	0.35061187	0.57115	0.2399684	0.49360	0.35061187	0.57115	0.2399684	0.49359	-5.794	0.44522	T	.	.	0.163	0.35910	B	.	.	2.330114	0.29851	18.25	0.79390030302325765	0.12720	0.53716	0.29439	D	AEFI	0.361238	0.45092	N	-0.168923267255855	0.34433	1.965275	-0.274315710401345	0.28948	1.617985	7.21841035634535E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.05	3.05	0.34272	2.027000	0.40699	1.551000	0.27293	-0.273000	0.06669	0.466000	0.26691	0.865000	0.27529	0.001000	0.02609	0.0:1.0:0.0:0.0	9.858	0.40267	794	0.45591	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1408.43	33	chr11	63304197	.	C	A	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=450;ExcessHet=0;FS=4.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.221;SOR=0.409	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1420,0,1981	9	0	1	0
chr11	66294475	66294475	G	A	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.G229A:p.A77T	.	422	1075	24	1	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0159965288774	0.0012	0.000399361	0.0017	0.0001	0.0022	0	0.0004	0.0025	0.0029	0.0006	0.001313	203	154602	rs202127682	0.0014	0.0014	0.0013	0.0015	0.0085	0.0013	0.0013	0.0066	0.0060	0.0002	0.0019	0.0069	0	7.755e-05	0.0085	0.0014	0.0020	0.0005	0.0012	0.0012	0.0014	0.0010	0.0015	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0014	0.0078	0	0.0002	0.0137	0.0015	0.0047	0.0006	0.599	0.05652	T	0.484	0.11760	T	0.201	0.29693	B	0.021	0.19346	B	0.001876	0.37789	N	0.164918	0.988732	0.40818	D	0.895	0.22405	L	.	.	.	0.7	0.02163	N	0.158	0.16447	-1.0893	0.05650	T	0.060	0.25200	T	9	0.006064296	0.00136	T	0.015997	0.37036	T	0.094	0.27141	.	.	0.043077524339	0.03247	0.5628537279553625	0.56212	.	.	0.697946429253	0.66848	T	0.002676	0.02065	T	-0.466581	0.00893	T	-0.449155	0.27790	T	0.00303895006801984	0.00032	T	0.533947	0.17813	T	0.02264007	0.00941	0.055863645	0.09879	0.02264007	0.00941	0.055863645	0.09878	-5.773	0.44338	T	.	.	0.083	0.09143	B	.	.	2.899794	0.38433	20.7	0.81313325403504977	0.13624	0.98346	0.81852	D	AEFDGBI	0.555136	0.56570	D	-0.594696526936147	0.19104	0.997296	-0.51024337533845	0.21875	1.185445	0.999983762213022	0.51787	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.69	2.83	0.32150	3.955000	0.56422	9.198000	0.79167	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.1709:0.0:0.8291:0.0	9.795	0.39898	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	0.005556	0.000000	0.004087	0.011696	0.000000	0.008772	0.012270	0.000000	0.05	1048.43	34	chr11	66294475	.	G	A	1048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.94;SOR=0.63	GT:AD:DP:GQ:PL	0/1:77,47:124:99:1060,0,1752	9	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,18:106:21:0|1:66863808_C_T:21,0,2409:66863808	4	0	6	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V	.	428	1046	45	3	0	51	0.0237984	.	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	4629.14	37	chr11	74034038	.	G	A	4629.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.068;DP=689;ExcessHet=0.2348;FS=3.234;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.568;SOR=0.547	GT:AD:DP:GQ:PL	0/1:101,85:186:99:2304,0,2799	8	0	2	0
chr11	74497429	74497429	G	A	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.G524A:p.C175Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	56.44	36	chr11	74497429	.	G	A	56.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.942;DP=288;ExcessHet=0;FS=69.772;InbreedingCoeff=-0.0533;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.17;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,12:39:68:0|1:74497428_T_C:68,0,645:74497428	9	0	1	0
chr11	82931910	82931910	G	A	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.G572A:p.R191K,DDIAS:NM_145018:exon6:c.G572A:p.R191K	.	434	1066	18	4	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0019	0.00439297	0.0031	0.0002	0.0010	0	0.0002	0.0020	0.0022	0.0139	0.0028654	443	154602	rs143776868	0.0023	0.0023	0.0019	0.0027	0.0143	0.0022	0.0022	0.0136	0.0133	0.0002	0.0014	0.0010	5.038e-05	0.0010	0.0029	0.0016	0.0024	0.0143	0.0017	0.0017	0.0014	0.0020	0.0139	0.0015	0.0014	0.0112	0.0103	0.0002	0	0.0017	0.0014	0.0002	0.0008	0.0136	0.0019	0.0014	0.0139	0.291	0.14945	T	0.296	0.20615	T	0.051	0.22415	B	0.01	0.14941	B	0.081662	0.20852	N	0.521773	1	0.19072	N	.	.	.	2.49	0.14531	T	-0.91	0.24460	N	0.075	0.04913	-1.0082	0.27479	T	0.024	0.10148	T	9	0.0038969219	0.00074	T	.	.	.	0.021	0.04004	.	.	0.0762999501168	0.06990	0.09629855801019349	0.09561	0.0389555431681	0.04147	.	.	.	0.063198	0.32114	T	-0.630402	0.00095	T	-0.684781	0.06696	T	0.00185487795829065	0.00019	T	0.341266	0.07400	T	0.03574267	0.04264	0.045065105	0.05982	0.03574267	0.04264	0.045065105	0.05981	-2.621	0.06664	T	.	.	0.098	0.18580	B	.;.	.;.	0.781434	0.11518	8.115	0.79226924549518085	0.12647	0.08489	0.14411	N	AEFBI	0.077336	0.15579	N	-0.857207152831639	0.11873	0.5754471	-0.903660520719352	0.12007	0.6151954	0.128260463694081	0.17036	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.15	-1.55	0.08105	0.132000	0.15716	0.646000	0.20366	0.676000	0.76740	0.029000	0.20367	0.839000	0.27283	0.989000	0.64315	0.3495:0.0:0.5265:0.124	5.350	0.15334	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.015152	0.05	1681.43	35	chr11	82931910	.	G	A	1681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=456;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.56;SOR=0.788	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1693,0,1630	9	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	162.04	43	chr11	94618061	.	G	C	162.04	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.092;DP=573;ExcessHet=0.7463;FS=267.11;InbreedingCoeff=-0.2199;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.845;SOR=9.364	GT:AD:DP:GQ:PL	0/1:32,18:56:99:124,0,396	6	0	3	1
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	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	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.05	2649.43	33	chr11	96384356	.	C	T	2649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=803;ExcessHet=0;FS=7.289;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.902;SOR=0.715	GT:AD:DP:GQ:PL	0/1:131,100:231:99:2661,0,2713	9	0	1	0
chr11	102795503	102795503	C	T	exonic	MMP1	.	nonsynonymous SNV	MMP1:NM_001145938:exon5:c.G532A:p.G178S,MMP1:NM_002421:exon5:c.G730A:p.G244S	COPD, rate of decline of lung function in	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00617780001164	.	.	4.127e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs777202958	1.095e-05	1.094e-05	1.225e-05	9.626e-06	0.0002	6.48e-06	5.24e-06	9.929e-05	7.225e-05	0	0	0	0.0002	0	0	5.396e-06	1.656e-05	1.159e-05	2.627e-05	2.625e-05	3.854e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.014	0.16862	B	0.011405	0.29543	N	0.288499	1	0.08975	N	-0.9	0.01342	N	2.01	0.21291	T	0.37	0.03639	N	0.088	0.06587	-1.0013	0.29545	T	0.023	0.09787	T	10	0.030106634	0.01137	T	0.006178	0.16200	T	0.100	0.28662	0.347	0.34274	0.370789594751	0.36692	0.45473484382669177	0.45391	0.0100870195922	0.00923	0.324572503567	0.14113	T	0.051984	0.29033	T	-0.425523	0.01578	T	-0.548687	0.17451	T	0.0559524454871642	0.06516	T	0.636336	0.25008	T	0.26766774	0.49839	0.2089193	0.45214	0.26766774	0.49839	0.2089193	0.45214	-2.802	0.08202	T	.	.	0.111	0.21466	B	.	.	1.412496	0.18282	13.65	0.74774682133338832	0.10822	0.08458	0.14384	N	AEFBCI	0.121146	0.23566	N	-0.632778677611511	0.17965	0.9289655	-0.445517605270007	0.23677	1.292415	0.990384175554114	0.32135	0.660085	0.49399	0	0.573888	0.26702	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.65	5.65	0.86881	2.224000	0.42587	1.799000	0.28866	0.599000	0.40250	0.011000	0.18532	0.061000	0.22037	0.838000	0.39538	0.0:0.8607:0.0:0.1393	11.428	0.49266	771	0.49057	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	885.43	47	chr11	102795503	.	C	T	885.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.276;DP=417;ExcessHet=0;FS=4.389;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.671;SOR=0.631	GT:AD:DP:GQ:PL	0/1:41,37:78:99:897,0,946	9	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4213.63	178	chr11	106010659	.	C	G	4213.63	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,35:155:99:.:.:826,0,4307:.	6	0	2	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,51:157:99:0|1:106010660_C_G:1010,0,3122:106010660	0	0	7	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3027.84	181	chr11	106010663	.	C	T	3027.84	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.348;DP=1258;ExcessHet=0.7463;FS=299.408;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=4.3;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35:163:99:0|1:106010660_C_G:344,0,4588:106010660	4	0	2	4
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3320.06	203	chr11	106010664	.	A	G	3320.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.661;DP=1255;ExcessHet=0.7463;FS=319.866;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=4.37;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,35:161:99:0|1:106010660_C_G:350,0,4539:106010660	3	0	3	4
chr11	108512523	108512523	G	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.C2420T:p.P807L,EXPH5:NM_001144764:exon4:c.C2516T:p.P839L,EXPH5:NM_001144763:exon6:c.C2756T:p.P919L,EXPH5:NM_015065:exon6:c.C2984T:p.P995L,EXPH5:NM_001308019:exon7:c.C2963T:p.P988L	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1459966	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0161908338979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900955478	6.844e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.029	0.58613	D	.	.	.	.	.	.	0.197782	0.16679	N	0.584255	0.999999	0.08975	N	.	.	.	4.28	0.04151	T	-4.62	0.90023	D	0.083	0.05929	-1.0248	0.22148	T	0.017	0.06855	T	10	0.15851843	0.29807	T	0.016191	0.37323	T	0.059	0.16972	0.318	0.29581	0.293147016451	0.28931	0.1413023537204226	0.14053	0.201659407777	0.22570	0.248876973987	0.03650	T	0.132741	0.46300	T	-0.239122	0.15461	T	-0.581258	0.14432	T	0.720004200935364	0.41699	D	0.816718	0.47282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.30971	B	.;.;.;.	.;.;.;.	1.436046	0.18546	13.80	0.99464872857475095	0.65996	0.09954	0.15590	N	AEFBI	0.091130	0.18461	N	-0.513019140841017	0.21659	1.151038	-0.534903245862264	0.21208	1.146182	0.996500484506433	0.34791	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.542086	0.14980	0	.	.	6.02	4.01	0.45821	1.165000	0.31432	1.669000	0.27944	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.017000	0.10941	0.092:0.0:0.6567:0.2513	6.433	0.21011	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2142.43	35	chr11	108512523	.	G	A	2142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=620;ExcessHet=0;FS=5.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.811;SOR=0.942	GT:AD:DP:GQ:PL	0/1:104,81:185:99:2154,0,2812	9	0	1	0
chr11	112214814	112214814	G	A	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256398:exon8:c.G1166A:p.G389D,BCO2:NM_001256400:exon9:c.G1070A:p.G357D,BCO2:NM_001037290:exon10:c.G1283A:p.G428D,BCO2:NM_001256397:exon10:c.G1283A:p.G428D,BCO2:NM_031938:exon10:c.G1385A:p.G462D	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.293365816146	0.0021	0.000599042	0.0026	0.0002	0.0008	0	0	0.0028	0.0022	0.0074	0.0024062	372	154602	rs139612323	0.0024	0.0024	0.0021	0.0026	0.0095	0.0023	0.0023	0.0075	0.0068	0.0002	0.0013	0.0076	0	0.0002	0.0095	0.0021	0.0028	0.0072	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0013	0.0036	0.0031	0.0002	0	0.0009	0.0063	0	0	0	0.0022	0.0038	0.0052	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.973	0.72923	D	0.000000	0.84330	D	0.045838	1	0.81001	D	2.58	0.75369	M	-3.54	0.94799	D	-4.47	0.77881	D	0.95	0.95841	1.035	0.97804	D	0.913	0.97123	D	10	0.0858323	0.14530	T	0.293366	0.90639	D	0.910	0.97587	.	.	0.938140714169	0.93749	0.919297372627089	0.91905	0.423288817443	0.42795	0.51526337862	0.40960	T	0.650942	0.89407	D	0.156289	0.69857	D	0.455168	0.93712	D	0.051481616603211	0.05758	T	0.962304	0.90829	D	0.80129206	0.83988	0.8391546	0.90783	0.80129206	0.83989	0.8391546	0.90783	-9.861	0.76242	D	.	.	0.685	0.76179	P	.;.;.;.;.;.	.;.;.;.;.;.	4.897691	0.80468	27.3	0.99820268161618808	0.90326	0.98760	0.86500	D	AEFBI	0.941797	0.94555	D	0.854464077099419	0.89360	9.940139	0.798718644719191	0.89703	10.08612	0.999996331904234	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	4.9	0.63643	9.450000	0.96770	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0716:0.0:0.9284:0.0	14.293	0.65845	746	0.52331	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.006793	0.000000	0.000000	0.008621	0.018293	0.022727	0.05	1179.43	34	chr11	112214814	.	G	A	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.114;SOR=0.652	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1191,0,1271	9	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	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	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.05	1137.43	35	chr11	114530269	.	G	C	1137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.961;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.616;SOR=0.699	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1149,0,1822	9	0	1	0
chr11	125038597	125038597	T	C	exonic	CCDC15	.	nonsynonymous SNV	CCDC15:NM_025004:exon14:c.T2578C:p.Y860H	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00509735738192	.	0.000199681	0.0002	0	0	0	0	0	0	0.0011	5.82e-05	9	154602	rs577531347	3.983e-05	4.036e-05	2.112e-05	5.895e-05	0.0004	3.146e-05	2.827e-05	0.0003	0.0003	0	9.235e-05	0	0	0	0.0004	1.103e-05	8.595e-05	0.0004	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.023	0.48186	D	0.032	0.53426	D	0.009	0.15093	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.41	0.34253	T	-2.05	0.54382	N	0.101	0.09349	-1.0058	0.28216	T	0.066	0.27225	T	9	0.009868711	0.00221	T	0.005097	0.12939	T	0.017	0.02790	0.226	0.15109	0.0482279557977	0.04254	0.13945202244579466	0.13868	0.0189071063277	0.01841	0.296992242336	0.09954	T	0.037496	0.24497	T	-0.459417	0.00991	T	-0.559305	0.16442	T	0.019249812088643	0.00631	T	0.352865	0.20563	T	0.4605496	0.64705	0.28634945	0.54643	0.4605496	0.64706	0.28634945	0.54642	-3.663	0.18773	T	.	.	0.375	0.59319	A	.;.	.;.	1.664173	0.21222	15.10	0.9818263857019579	0.38958	0.02750	0.07434	N	AEFBI	0.049368	0.08522	N	-0.870495372090006	0.11549	0.5579341	-0.905028316472498	0.11975	0.6133392	0.0219314727171202	0.13390	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	-1.64	0.07874	-0.267000	0.08648	.	.	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1294:0.2722:0.0:0.5983	4.881	0.13037	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	.	.	.	.	.	.	.	.	0.05	1165.43	40	chr11	125038597	.	T	C	1165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=418;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.2;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1177,0,984	9	0	1	0
chr12	309870	309870	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon22:c.A3311G:p.D1104G	.	5	1503	14	0	0	14	0.00463576	.	.	.	753324	KDM5A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.334	.	0.0002	0.00259585	0.0017	0	0.0011	0	0	0.0003	0.0011	0.0107	0.0014489	224	154602	rs201344078	0.0009	0.0009	0.0006	0.0012	0.0112	0.0009	0.0008	0.0106	0.0103	2.99e-05	0.0008	3.827e-05	0	0	0.0012	0.0002	0.0010	0.0112	0.0006	0.0006	0.0004	0.0007	0.0118	0.0005	0.0004	0.0094	0.0085	7.215e-05	0	0.0010	0	0	0	0	0.0002	0	0.0118	0.192	0.20988	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047953	0.999981	0.54805	D	0.255	0.09829	N	-1.92	0.84773	D	0.02	0.06739	N	0.339	0.38027	-0.3782	0.72708	T	0.444	0.78124	T	10	0.007944077	0.00180	T	.	.	.	0.334	0.65620	.	.	0.206203607746	0.20212	0.5532631801951152	0.55252	0.239666914259	0.26511	0.492004603148	0.37716	T	0.140279	0.47474	T	-0.351601	0.04627	T	-0.268432	0.47978	T	0.0242367315862672	0.01174	T	0.840516	0.51562	T	0.20029108	0.41999	0.18359748	0.41359	0.20029108	0.41999	0.18359748	0.41358	-4.002	0.23834	T	.	.	0.096	0.15475	B	.	.	3.159092	0.42797	21.6	0.98882147109117824	0.47841	0.91016	0.52696	D	AEFBI	0.349626	0.44335	N	-0.028904609364582	0.40549	2.410021	0.182922526094968	0.48911	3.100887	0.839289507017523	0.24836	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.970000	0.56530	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	16.353	0.83053	862	0.33134	.	.	.	.	.	.	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	0.004028	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.011364	0.05	534.43	34	chr12	309870	.	T	C	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.706;DP=312;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.84;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,22:40:99:0|1:309870_T_C:546,0,419:309870	9	0	1	0
chr12	885872	885872	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.C4327G:p.P1443A,WNK1:NM_001184985:exon19:c.C5848G:p.P1950A,WNK1:NM_018979:exon19:c.C5068G:p.P1690A,WNK1:NM_213655:exon19:c.C5824G:p.P1942A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	578505	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.452	0.124524089538	.	.	5.789e-05	0	8.637e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs771546256	4.449e-05	4.446e-05	2.451e-05	6.468e-05	0.0006	3.577e-05	3.259e-05	0.0005	0.0005	0	0	0	0	0	0	6.299e-06	3.313e-05	0.0006	3.285e-05	3.94e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.074	0.35537	T	1.0	0.28669	T	0.046	0.21875	B	0.027	0.21085	B	0.000115	0.50451	N	0.087473	0.997926	0.44325	D	1.79	0.46772	L	-2.8	0.91076	D	-4.57	0.80256	D	0.239	0.26957	0.003	0.82311	D	0.608	0.86111	D	10	0.122582406	0.23257	T	0.124524	0.80589	D	0.452	0.75211	0.311	0.28451	0.40642006208	0.40259	0.3803628023096669	0.37951	0.448429279266	0.44671	0.400211215019	0.25098	T	0.25618	0.87278	T	-0.134034	0.30846	T	-0.066144	0.65900	T	0.131805352417146	0.15548	T	0.878412	0.59357	D	0.19272722	0.40953	0.21013972	0.45388	0.19272722	0.40953	0.21013972	0.45387	-3.593	0.18263	T	.	.	0.067	0.07412	B	.;.;.;.;.	.;.;.;.;.	2.605014	0.33824	19.45	0.98038702051356297	0.37774	0.97730	0.76719	D	AEFDBI	0.356941	0.44814	N	-0.0776401916282595	0.38374	2.246598	0.0976206796174211	0.44429	2.724841	0.989302221242801	0.31782	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.98	0.65679	3.056000	0.49616	4.239000	0.42696	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.8752:0.1248:0.0	17.388	0.87313	551	0.72115	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1922.43	38	chr12	885872	.	C	G	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=552;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.889;SOR=0.824	GT:AD:DP:GQ:PL	0/1:70,75:145:99:1934,0,1698	9	0	1	0
chr12	4548716	4548716	G	A	exonic	RAD51AP1	.	nonsynonymous SNV	RAD51AP1:NM_006479:exon6:c.G436A:p.V146I,RAD51AP1:NM_001130862:exon7:c.G487A:p.V163I	.	424	1059	38	1	0	40	0.0185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0035	0.00359425	0.0054	0.0011	0.0024	0	0.0014	0.0053	0.0066	0.0154	0.0051228	792	154602	rs114193736	0.0063	0.0063	0.0060	0.0065	0.0151	0.0062	0.0061	0.0144	0.0141	0.0010	0.0024	0.0006	2.519e-05	0.0010	0.0057	0.0066	0.0055	0.0151	0.0034	0.0034	0.0036	0.0032	0.0118	0.0032	0.0031	0.0093	0.0085	0.0010	0.0011	0.0033	0.0003	0	0.0007	0.0136	0.0052	0.0028	0.0118	0.623	0.08458	T	0.297	0.21745	T	0.002	0.09854	B	0.002	0.06944	B	0.309231	0.04004	N	1.490830	1	0.08975	N	1.32	0.33002	L	1.49	0.31470	T	-0.24	0.11366	N	0.074	0.06587	-1.0533	0.13493	T	0.034	0.14639	T	10	0.0030179322	0.00049	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.012136688093202803	0.01172	0.0797471840611	0.08979	0.218657553196	0.01233	T	0.001945	0.01356	T	-0.654249	0.00068	T	-0.699586	0.05848	T	0.000695740826581034	0.00006	T	0.529047	0.17505	T	0.017670278	0.00293	0.016657619	0.00019	0.017670278	0.00293	0.016657619	0.00019	-3.565	0.17742	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	-1.394296	0.00364	0.007	0.63327562369559387	0.07195	0.01624	0.05244	N	AEFBI	0.054611	0.09945	N	-1.41984862399728	0.02464	0.1088679	-1.52658162101311	0.02141	0.09803702	0.90136843482508	0.26099	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	4.97	-5.89	0.02093	-1.175000	0.03211	-1.842000	0.04627	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.265:0.1713:0.4169:0.1468	1.902	0.03072	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	0.004532	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.003788	0.05	223.43	33	chr12	4548716	.	G	A	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=354;ExcessHet=0;FS=2.969;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=-0.684;SOR=1.363	GT:AD:DP:GQ:PL	0/1:35,12:47:99:235,0,893	9	0	1	0
chr12	6936728	6936728	-	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.Q502_H503insQQQQQQQQQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.Q502_H503insQQQQQQQQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352372	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	3.103e-05	0	0.0004	0.0012	0.0002	0	0.0001	0.0003	0.0003	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0001	0.0009	0.0006	0.0003	0	0.0006	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	9342.27	64	chr12	6936728	.	A	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	9342.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.394;DP=728;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.5286;MLEAC=1;MLEAF=0.056;MQ=59.97;MQRankSum=0;QD=31.56;ReadPosRankSum=-0.501;SOR=0.667	GT:AD:DP:GQ:PL	0/1:1,14:50:99:2168,1236,1189	8	0	1	1
chr12	7829905	7829905	C	T	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon4:c.G116A:p.R39H,SLC2A14:NM_001286237:exon4:c.G488A:p.R163H,SLC2A14:NM_001286234:exon5:c.G374A:p.R125H,SLC2A14:NM_153449:exon6:c.G443A:p.R148H,SLC2A14:NM_001286235:exon7:c.G374A:p.R125H,SLC2A14:NM_001286233:exon10:c.G443A:p.R148H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.250104568511	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs770629394	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0005	1.237e-05	1.051e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	7.194e-06	9.934e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.991	0.68779	D	0.908	0.70672	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.19	0.97772	H	-2.63	0.90083	D	-4.35	0.79482	D	0.956	0.97750	1.016	0.97462	D	0.911	0.97046	D	10	0.90871376	0.90236	D	0.250105	0.89078	D	0.794	0.93227	0.701	0.83777	0.692426550812	0.68978	0.8320408758455037	0.83163	0.884575161911	0.69923	0.666960537434	0.62404	T	0.778155	0.94119	D	0.183383	0.72354	D	0.122495	0.78399	D	0.998473465442657	0.94253	D	0.90141	0.65732	D	0.6279099	0.74187	0.51814383	0.72160	0.6279099	0.74188	0.51814383	0.72161	-11.803	0.84152	D	.	.	0.885	0.83497	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.563426	0.71934	25.7	0.99915286177496332	0.98379	0.92717	0.56374	D	AEFDBHCI	0.814618	0.73680	D	0.729619493222715	0.81575	7.554283	0.509598528790888	0.68635	5.247278	0.824163118982355	0.24576	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	3.41	3.41	0.38145	6.824000	0.75078	2.678000	0.33996	0.304000	0.19002	1.000000	0.71638	0.993000	0.31925	0.498000	0.28972	0.0:1.0:0.0:0.0	12.309	0.54242	929	0.16858	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	2038.43	33	chr12	7829905	.	C	T	2038.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=482;ExcessHet=0;FS=6.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.341;SOR=0.677	GT:AD:DP:GQ:PL	0/1:93,80:173:99:2050,0,2263	9	0	1	0
chr12	10631294	10631294	G	A	exonic	STYK1	.	nonsynonymous SNV	STYK1:NM_018423:exon5:c.C202T:p.P68S	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0134565714201	0.0003	0.000798722	0.0008	0	0.0002	0	0	0.0005	0	0.0036	0.0006598	102	154602	rs140174760	0.0004	0.0004	0.0003	0.0004	0.0029	0.0004	0.0003	0.0026	0.0025	5.974e-05	0.0001	0.0038	0	0	0.0029	0.0001	0.0008	0.0029	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	0	0	6.533e-05	0.0046	0	0	0	0.0002	0.0005	0.0029	0.149	0.51853	T	0.302	0.92824	T	0.144	0.27697	B	0.014	0.16862	B	0.009183	0.30475	N	0.326057	1	0.08975	N	2.19	0.61577	M	-1.14	0.77843	T	-1.48	0.78302	N	0.168	0.17828	-0.6785	0.61442	T	0.322	0.69099	T	10	0.005180508	0.00113	T	0.013457	0.32880	T	0.069	0.20116	.	.	0.50970329007	0.50609	0.5637568186244317	0.56302	0.183786363742	0.20674	0.283225119114	0.07946	T	0.028895	0.20826	T	-0.412965	0.01900	T	-0.37121	0.36748	T	0.0203411637573905	0.00734	T	0.627137	0.24302	T	0.02052102	0.00614	0.03000872	0.01405	0.02052102	0.00614	0.03000872	0.01405	-3.392	0.14949	T	.	.	0.071	0.05060	B	.;.;.	.;.;.	1.020940	0.14004	10.57	0.68626865613198018	0.08716	0.01913	0.05852	N	AEFBI	0.039501	0.05745	N	-0.960258096141173	0.09464	0.4480145	-1.01897663576184	0.09368	0.4656734	0.991047916226018	0.32354	0.706548	0.73137	0	0.59043	0.45803	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.43	1.44	0.21647	0.247000	0.17953	1.318000	0.25583	-0.641000	0.04447	0.114000	0.23067	0.769000	0.26685	0.004000	0.06068	0.3702:0.0:0.6298:0.0	7.526	0.26822	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1175.43	37	chr12	10631294	.	G	A	1175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.859;DP=419;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=1.66;SOR=0.39	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1187,0,762	9	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.1	833.14	91	chr12	10930916	.	C	T	833.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.99;DP=637;ExcessHet=0.2348;FS=15.315;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=40.12;MQRankSum=2.34;QD=4.68;ReadPosRankSum=0.44;SOR=1.999	GT:AD:DP:GQ:PL	0/1:77,24:101:99:472,0,2074	8	0	2	0
chr12	11393752	11393752	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G326A:p.R109Q,PRB2:NM_006248:exon3:c.G326A:p.R109Q	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.4222	0.2431	0.4094	0.3162	0.4681	0.4602	0.4311	0.4099	0.001191	31	26028	rs76832300	0.0113	0.0066	0.0104	0.0122	0.0191	0.0110	0.0109	0.0142	0.0125	0.0010	0.0068	0.0437	0.0017	0.0087	0.0191	0.0124	0.0117	0.0094	0.0087	0.0079	0.0086	0.0089	0.0136	0.0081	0.0079	0.0125	0.0120	0.0022	0.0107	0.0066	0.0235	0.0024	0.0078	0.0116	0.0136	0.0022	0.0117	.	.	.	0.637	0.07037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	3.71	0.04046	T	-0.04	0.07590	N	0.039	0.01274	-0.9762	0.35860	T	0.003	0.00994	T	8	0.0032245219	0.00055	T	.	.	.	0.019	0.03383	.	.	.	.	0.039606789593714	0.03906	0.075177927071	0.08431	.	.	.	.	.	.	-0.741699	0.00020	T	-0.813109	0.01597	T	0.00107057250001736	0.00010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.	.	-0.084743	0.03731	0.770	0.4266095456056942	0.03160	0.00029	0.00276	N	AEFBI	0.015596	0.00305	N	-2.03367369516568	0.00179	0.00766595	-2.0562362833855	0.00232	0.01022055	5.2484378870243E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.259000	0.01260	-0.374000	0.09587	-0.815000	0.03024	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2053:0.2954:0.0:0.4994	2.776	0.05019	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	0.437632	0.414141	0.463315	0.422131	0.400000	0.422414	0.426829	0.435606	0.125	713.41	400	chr12	11393752	.	C	T	713.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.698;DP=3680;ExcessHet=0.2348;FS=0.569;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=55.98;MQRankSum=-13.38;QD=1.14;ReadPosRankSum=3.01;SOR=0.625	GT:AD:DP:GQ:PL	0/1:253,70:323:99:720,0,6093	3	0	1	6
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	0/1:78,21:99:38:38,0,1961	7	0	3	0
chr12	31103648	31103648	G	C	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_004399:exon25:c.G2458C:p.V820L,DDX11:NM_001257144:exon26:c.G2603C:p.C868S,DDX11:NM_001257145:exon26:c.G2530C:p.V844L,DDX11:NM_030653:exon26:c.G2608C:p.V870L,DDX11:NM_152438:exon26:c.G2603C:p.C868S	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.02636387208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.098	0.39040	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.999996	0.28777	N	.	.	.	-0.73	0.73100	T	1.38	0.00857	N	0.138	0.13626	-0.4093	0.71733	T	0.586	0.85131	D	9	0.100384384	0.18277	T	0.026364	0.49282	D	0.132	0.35948	0.465	0.53566	0.753307581479	0.75107	0.31133377068302653	0.31046	.	.	0.537653803825	0.44114	T	0.058439	0.30843	T	-0.088462	0.38329	T	-0.364846	0.37489	T	0.0656475663705456	0.08027	T	0.263874	0.04274	T	0.6402606	0.74844	0.35115352	0.60714	0.6402606	0.74846	0.35115352	0.60713	-2.805	0.08230	T	.	.	0.088	0.11606	B	.	.	0.748213	0.11177	7.816	0.93238544008024293	0.22923	0.19150	0.20547	N	AEFDBHCI	0.362619	0.45181	N	-1.06452926507695	0.07306	0.3389654	-1.14122500139138	0.06927	0.3350968	0.992377425300562	0.32817	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.563494	0.21769	0	.	.	3.14	-1.26	0.08892	0.379000	0.20315	-3.820000	0.02515	0.467000	0.21759	0.013000	0.18845	0.000000	0.08366	0.253000	0.23340	0.7447:0.0:0.2553:0.0	7.277	0.25466	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1514.43	79	chr12	31103648	.	G	C	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.345;DP=722;ExcessHet=0;FS=1.515;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.33;MQRankSum=-0.683;QD=13.28;ReadPosRankSum=-0.516;SOR=0.9	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1526,0,1435	9	0	1	0
chr12	32755622	32755622	C	G	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G253C:p.D85H	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.120665591044	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167016632	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.973	0.72923	D	0.000003	0.62929	D	0.101229	1	0.81001	D	3.69	0.94526	H	0.74	0.50459	T	-4.99	0.82221	D	0.801	0.79696	-0.4221	0.71323	T	0.301	0.67186	T	10	0.8488797	0.84060	D	0.120666	0.80126	D	0.313	0.63482	0.632	0.76810	0.531727546574	0.52820	0.6799314687224141	0.67932	1.36873852786	0.84485	0.753081560135	0.74901	T	0.523042	0.83356	D	0.0370084	0.56652	T	-0.0877624	0.64330	T	0.984026432037354	0.75478	D	0.968203	0.88468	D	0.8620016	0.88238	0.79993373	0.88266	0.8620016	0.88240	0.79993373	0.88266	-9.623	0.71622	D	0.6614480898340025	0.73500	0.436	0.61500	A	.	.	5.070472	0.84568	28.3	0.99331596388332644	0.59816	0.48630	0.28250	N	ALL	0.677355	0.64208	D	0.627615201166171	0.74926	6.216742	0.507018567338595	0.68460	5.223258	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.64	2.72	0.31179	5.354000	0.65806	4.621000	0.44076	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.145:0.7772:0.0:0.0778	9.128	0.35989	764	0.49969	Aminoacyl-tRNA synthetase, class I, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2710.43	37	chr12	32755622	.	C	G	2710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.437;DP=535;ExcessHet=0;FS=4.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.76;SOR=0.896	GT:AD:DP:GQ:PL	0/1:111,108:219:99:2722,0,2974	9	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,11:51:66:.:.:127,0,1048:.	3	0	7	0
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	897.15	66	chr12	39764778	.	G	A	897.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.361;DP=458;ExcessHet=2.8389;FS=279.776;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=0.768;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,15:51:99:.:.:172,0,1017:.	5	0	5	0
chr12	40485210	40485210	-	GTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2763.23	804	chr12	40485210	.	A	AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	2763.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=11.81;DP=7711;ExcessHet=0.2348;FS=33.106;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-26.03;QD=1.81;ReadPosRankSum=-5.344;SOR=3.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:696,83:779:99:.:.:1198,0,28736:.	6	0	1	3
chr12	40486500	40486500	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1720.25	923	chr12	40486500	.	C	A	1720.25	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:591,85:676:99:0|1:40486500_C_A:1731,0,24278:40486500	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	0/1:838,33:871:99:.:.:3365,0,34699:.	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	0/1:823,28:851:99:.:.:3410,0,33532:.	4	0	6	0
chr12	40570509	40570509	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs986819918	3.656e-06	7.952e-06	0	6.767e-06	3.236e-05	6.1e-07	2.3e-07	.	.	0	3.236e-05	0	0	0	0	0	3.331e-05	0	2.631e-05	2.628e-05	2.571e-05	2.693e-05	4.83e-05	8.15e-06	5.14e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	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	1773.43	35	chr12	40570509	.	C	T	1773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.865;SOR=0.745	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1785,0,1529	9	0	1	0
chr12	40944070	40944070	C	T	exonic	CNTN1	.	nonsynonymous SNV	CNTN1:NM_175038:exon12:c.C1550T:p.A517V,CNTN1:NM_001256063:exon14:c.C1583T:p.A528V,CNTN1:NM_001256064:exon14:c.C1583T:p.A528V,CNTN1:NM_001843:exon14:c.C1583T:p.A528V	.	.	.	.	.	.	.	.	.	.	.	1010426	Compton-North_congenital_myopathy|Inborn_genetic_diseases	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0259973946858	.	.	8.268e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs779551448	8.212e-06	8.209e-06	9.532e-06	6.878e-06	0.0002	4.38e-06	3.46e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	6.297e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.11550	T	0.478	0.25061	T	0.949	0.90584	P	0.821	0.86255	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.325	0.33218	L	2.53	0.14038	T	-0.89	0.24026	N	0.811	0.83066	-1.1097	0.03096	T	0.072	0.29291	T	10	0.7857443	0.78231	D	0.025997	0.48938	D	0.208	0.49714	0.569	0.69167	0.454055122543	0.45028	0.8454460965493286	0.84505	0.955170405442	0.72777	0.584843277931	0.50768	T	0.261581	0.63307	T	-0.0535707	0.43903	T	-0.217873	0.52942	T	0.940226197242737	0.61237	D	0.931907	0.86510	D	0.16107453	0.36092	0.16980386	0.39042	0.16107453	0.36091	0.16980386	0.39042	-4.496	0.50271	T	.	.	0.51	0.67450	A	.;.;.;.;.	.;.;.;.;.	4.250720	0.64526	24.7	0.99609206912088266	0.74694	0.98786	0.86836	D	AEFI	0.852039	0.76894	D	0.324070130722143	0.57386	3.905766	0.275154152814646	0.54091	3.575339	0.999990946839377	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.72	4.72	0.59248	7.182000	0.77229	7.653000	0.63809	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0:1.0:0.0:0.0	18.248	0.89933	736	0.53558	.;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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1067.43	33	chr12	40944070	.	C	T	1067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=449;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.178;SOR=0.803	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1079,0,1653	9	0	1	0
chr12	42460069	42460069	G	A	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon8:c.C2236T:p.P746S,PRICKLE1:NM_001144882:exon8:c.C2236T:p.P746S,PRICKLE1:NM_001144883:exon8:c.C2236T:p.P746S,PRICKLE1:NM_153026:exon8:c.C2236T:p.P746S	Epilepsy, progressive myoclonic 1B, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	135472	not_specified|not_provided|Epilepsy,_progressive_myoclonic,_1B	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.304	.	0.0016	0.0201677	0.0101	0.0004	0.0194	0.0864	0.0002	0.0021	0.0011	0.0070	0.0095018	1469	154602	rs3827522	0.0054	0.0054	0.0053	0.0055	0.0795	0.0053	0.0052	0.0772	0.0762	0.0004	0.0158	0.0021	0.0795	0.0003	0.0040	0.0025	0.0076	0.0071	0.0060	0.0060	0.0055	0.0065	0.0847	0.0057	0.0055	0.0781	0.0755	0.0007	0	0.0121	0.0017	0.0847	0.0007	0.0034	0.0027	0.0062	0.0108	0.018	0.50676	D	0.16	0.31427	T	0.037	0.20876	B	0.009	0.14300	B	0.000406	0.44736	D	0.225035	0.999826	0.20203	N	1.665	0.42610	L	-1.99	0.85320	D	-1.49	0.36385	N	0.104	0.14622	-0.8854	0.49324	T	0.026	0.11220	T	10	0.0017695427	0.00023	T	.	.	.	0.304	0.62510	.	.	.	.	0.3551184717963568	0.35425	0.394066426659	0.40570	0.341263651848	0.16627	T	0.145985	0.48338	T	-0.432641	0.01429	T	-0.31767	0.42829	T	0.0609070858450115	0.07310	T	0.746025	0.36642	T	0.08557991	0.19857	0.14977208	0.35349	0.07266875	0.16183	0.1339355	0.32104	-3.176	0.12190	T	0.19171987352439407	0.25166	0.077	0.06479	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.424381	0.47561	22.5	0.98131507539475249	0.38522	0.89993	0.50831	D	AEFBI	0.521986	0.54619	D	-0.177623512281458	0.34068	1.940114	-0.0573963437080761	0.37172	2.172883	0.999457632561927	0.39788	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	7.547000	0.81094	5.769000	0.49731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:0.0:1.0:0.0	19.946	0.97182	503	0.75780	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.010101	0.005435	0.000000	0.000000	0.000000	0.036585	0.007576	0.05	517.43	34	chr12	42460069	.	G	A	517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.986;SOR=0.54	GT:AD:DP:GQ:PL	0/1:22,18:40:99:529,0,617	9	0	1	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144882:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144883:exon4:c.G370A:p.A124T,PRICKLE1:NM_153026:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	1	1491	29	1	0	31	0.0102887	.	.	.	135473	not_specified|Self-limited_epilepsy_with_centrotemporal_spikes|not_provided|Epilepsy,_progressive_myoclonic,_1B	MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:C3661900|MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	Likely benign	0	0	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	0.012601	0.010101	0.005435	0.000000	0.000000	0.000000	0.036585	0.015152	0.05	679.43	33	chr12	42469464	.	C	T	679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.756;DP=389;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-1.473;SOR=0.811	GT:AD:DP:GQ:PL	0/1:45,29:74:99:691,0,1251	9	0	1	0
chr12	45927363	45927363	T	G	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon11:c.A2338C:p.T780P	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00268613874495	.	0.000599042	0.0004	9.623e-05	0.0003	0.0002	0	0.0005	0	0.0006	0.0003946	61	154602	rs137901313	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	2.987e-05	0.0002	7.652e-05	7.557e-05	1.872e-05	0.0019	0.0004	0.0006	0.0006	0.0004	0.0004	0.0005	0.0002	0.0006	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0004	0.0003	0.0002	0	0.0034	0.0006	0	0.0006	0.29	0.14996	T	0.372	0.16376	T	0.475	0.36638	P	0.047	0.24832	B	0.022414	0.01572	N	2.117220	1	0.08975	N	1.39	0.34934	L	2.18	0.32722	T	-0.28	0.13035	N	0.063	0.08786	-1.0424	0.16592	T	0.056	0.23450	T	10	0.009508461	0.00214	T	0.002686	0.05492	T	0.036	0.09122	.	.	0.165150595986	0.16160	0.09782510472252012	0.09713	0.0601548666932	0.06689	0.299746394157	0.10363	T	0.011838	0.40268	T	-0.538987	0.00340	T	-0.632499	0.10226	T	0.00895828562709368	0.00112	T	0.314968	0.19272	T	0.054871935	0.10589	0.03679271	0.03197	0.054871935	0.10588	0.03679271	0.03196	-4.387	0.29571	T	.	.	0.101	0.22573	B	.;.;.	.;.;.	0.260980	0.06395	2.861	0.57891889694222987	0.05869	0.06290	0.12284	N	AEFGBI	0.079472	0.16051	N	-1.08163389495195	0.06982	0.322989	-1.2017298169754	0.05883	0.2815593	0.988280516447406	0.31463	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.57	-6.47	0.01731	-0.003000	0.12836	-0.151000	0.11419	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2066:0.3385:0.304:0.1509	2.159	0.03587	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	2629.43	35	chr12	45927363	.	T	G	2629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3;DP=541;ExcessHet=0;FS=5.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.19;ReadPosRankSum=2.02;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,69:137:99:0|1:45927361_G_T:2641,0,2605:45927361	9	0	1	0
chr12	48074492	48074492	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon8:c.A772G:p.I258V,SENP1:NM_001267595:exon8:c.A772G:p.I258V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00152037478945	.	.	1.657e-05	0	0	0.0001	0	0	0.0011	0	1.29e-05	2	154602	rs745761476	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	5.396e-06	3.313e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07497	T	0.51	0.10821	T	0.001	0.09854	B	0.001	0.08700	B	0.070086	0.21562	N	0.440276	1	0.81001	D	1.935	0.51832	L	2.54	0.13916	T	0.09	0.06138	N	0.063	0.03502	-0.9755	0.36015	T	0.017	0.06902	T	10	0.035245	0.01764	T	0.00152	0.02369	T	0.035	0.08770	0.23	0.15705	0.21174354426	0.20776	0.1468507035056895	0.14607	.	.	0.370079100132	0.20844	T	0.054174	0.29650	T	-0.526233	0.00404	T	-0.757005	0.03221	T	0.026105194603126	0.01420	T	0.60094	0.22456	T	0.013277736	0.00054	0.023983514	0.00413	0.013277736	0.00054	0.023983514	0.00413	-2.554	0.06161	T	.	.	0.060	0.02670	B	.;.;.	.;.;.	0.881135	0.12544	9.072	0.58173577567797863	0.05933	0.56985	0.30258	D	AEDGBIJ	0.085622	0.17358	N	-0.731727795187249	0.15133	0.7600618	-0.572143019622009	0.20220	1.088429	0.00311413983052615	0.09935	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.84	1.01	0.19044	-0.073000	0.11428	0.466000	0.18665	-0.119000	0.14319	0.989000	0.36753	0.999000	0.35428	0.997000	0.79791	0.0:0.2479:0.1518:0.6004	4.834	0.12818	496	0.76301	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1448.43	34	chr12	48074492	.	T	C	1448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.427;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.61;SOR=0.773	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1460,0,1336	9	0	1	0
chr12	48088943	48088943	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.A238G:p.S80G,SENP1:NM_001267595:exon5:c.A238G:p.S80G	.	429	1056	37	0	0	37	0.0172173	.	.	.	702319	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0039	0.00299521	0.0092	0.0005	0.0027	0.0003	0.0343	0.0101	0.0171	0.0060	0.0054527	843	154602	rs112688170	0.0050	0.0050	0.0049	0.0051	0.0210	0.0049	0.0049	0.0179	0.0168	0.0007	0.0018	0.0345	2.572e-05	0.0284	0.0210	0.0035	0.0067	0.0045	0.0053	0.0053	0.0045	0.0062	0.0043	0.0050	0.0049	0.0039	0.0038	0.0005	0.0077	0.0024	0.0326	0.0002	0.0300	0.0170	0.0043	0.0028	0.0021	0.004	0.65419	D	0.202	0.27414	T	0.018	0.20002	B	0.025	0.25995	B	0.000851	0.41440	D	0.194749	1	0.81001	D	0.805	0.20218	L	2.38	0.15843	T	-0.97	0.56144	N	0.256	0.29313	-1.0899	0.05549	T	0.024	0.10419	T	10	0.0037702918	0.00070	T	.	.	.	0.048	0.13305	.	.	0.338449385132	0.33456	0.28745014231400146	0.28658	.	.	0.442630141973	0.30936	T	0.10795	0.42057	T	-0.554129	0.00275	T	-0.566132	0.15806	T	0.019706397154617	0.00672	T	0.780822	0.41560	T	0.121635914	0.28599	0.12576467	0.30298	0.121635914	0.28599	0.12576467	0.30297	-4.725	0.33705	T	.	.	0.085	0.17488	B	.;.;.;.	.;.;.;.	3.339620	0.46013	22.2	0.99198206286095336	0.55201	0.98662	0.85282	D	AEFBI	0.565628	0.57194	D	-0.0592072060781748	0.39192	2.307282	0.143442539337478	0.46794	2.919761	0.984952414377167	0.30802	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.666000	0.61248	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.545	0.67616	497	0.76227	.;.;.;.	.	.	.	.	rs112688170	Likely benign	0	0	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	0.015106	0.005051	0.019022	0.017544	0.000000	0.017241	0.015244	0.007576	0.05	398.43	34	chr12	48088943	.	T	C	398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.112;DP=338;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.191;SOR=0.929	GT:AD:DP:GQ:PL	0/1:28,18:46:99:410,0,729	9	0	1	0
chr12	48203268	48203268	T	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.A25C:p.T9P	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0038	0.00299521	0.0065	0.0004	0.0020	0.0001	0.0260	0.0072	0.0178	0.0054	0.0058408	903	154602	rs112948514	0.0073	0.0073	0.0073	0.0073	0.0154	0.0071	0.0071	0.0124	0.0113	0.0006	0.0018	0.0340	2.773e-05	0.0274	0.0154	0.0047	0.0082	0.0049	0.0052	0.0052	0.0044	0.0061	0.0043	0.0049	0.0048	0.0039	0.0037	0.0005	0.0077	0.0018	0.0323	0.0002	0.0292	0.0170	0.0043	0.0028	0.0031	0.004	0.65419	D	0.029	0.54541	D	0.534	0.37787	P	0.143	0.33763	B	0.041180	0.23978	N	0.207594	1	0.08975	N	1.685	0.43254	L	4.4	0.02215	T	-3.22	0.64939	D	0.395	0.43610	-0.9549	0.40114	T	0.006	0.01944	T	10	0.004396379	0.00089	T	.	.	.	0.090	0.26093	.	.	0.29132392195	0.28731	0.3578521323055992	0.35699	0.0986389603971	0.11146	0.284889936447	0.08183	T	0.018115	0.14658	T	-0.471763	0.00829	T	-0.447819	0.27938	T	0.0196901589367616	0.00671	T	0.506749	0.16047	T	0.28944045	0.51940	0.40771738	0.65109	0.28944045	0.51940	0.40771738	0.65109	-8.131	0.61959	D	.	.	0.137	0.29914	B	.	.	1.241742	0.16376	12.50	0.95192574500094318	0.26377	0.39853	0.26306	N	AEFBCI	0.339312	0.43650	N	-0.503047978824176	0.21981	1.170499	-0.618759201248743	0.19011	1.018176	0.0338251342059499	0.14124	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.36	1.73	0.23565	0.839000	0.27239	-0.234000	0.10651	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1739:0.1855:0.0:0.6406	3.208	0.06275	736	0.53558	.	.	.	.	.	rs112948514	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.017663	0.017544	0.000000	0.025862	0.015244	0.007576	0.05	954.43	63	chr12	48203268	.	T	G	954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=565;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.462;SOR=1.14	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,27:78:99:0|1:48203268_T_G:966,0,1999:48203268	9	0	1	0
chr12	49490690	49490690	A	G	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon5:c.A223G:p.S75G,SPATS2:NM_023071:exon6:c.A223G:p.S75G,SPATS2:NM_001293285:exon7:c.A223G:p.S75G	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00210480452853	0.0027	0.00179712	0.0036	0.0006	0.0010	0	0.0080	0.0055	0.0044	0	0.0037128	574	154602	rs142230440	0.0039	0.0039	0.0040	0.0038	0.0044	0.0038	0.0038	0.0043	0.0043	0.0007	0.0010	0.0015	2.52e-05	0.0082	0.0033	0.0044	0.0034	0.0001	0.0031	0.0031	0.0030	0.0032	0.0047	0.0029	0.0028	0.0043	0.0041	0.0008	0	0.0007	0.0012	0	0.0083	0.0102	0.0047	0.0043	0.0002	0.081	0.61437	T	0.008	0.69154	D	0.104	0.25941	B	0.039	0.23607	B	0.010698	0.29823	N	0.364000	0.993484	0.23703	N	2.075	0.57047	M	.	.	.	-2.39	0.52612	N	0.297	0.33578	-0.9468	0.41515	T	0.101	0.37417	T	9	0.008061707	0.00183	T	0.002105	0.03882	T	0.034	0.08419	.	.	0.0934897674506	0.08844	0.13054203920872406	0.12979	0.312050624539	0.33506	0.51364928484	0.40733	T	0.080878	0.36467	T	-0.412415	0.01916	T	-0.355787	0.38541	T	0.0228098507062631	0.01002	T	0.568443	0.20183	T	0.14220098	0.32735	0.12549326	0.30237	0.14220098	0.32735	0.12549326	0.30236	-7.307	0.56246	T	.	.	0.069	0.06069	B	.;.;.;.	.;.;.;.	2.906392	0.38538	20.8	0.99462541440358387	0.65892	0.81429	0.40834	D	AEFBI	0.170981	0.29792	N	-0.0108968494486665	0.41361	2.472638	0.167421080392501	0.48072	3.028208	0.999983341207761	0.51787	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.24	5.24	0.72863	4.785000	0.62110	5.375000	0.48439	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.547	0.49955	173	0.93306	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	353.43	33	chr12	49490690	.	A	G	353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.816;DP=343;ExcessHet=0;FS=4.575;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.097;SOR=1.164	GT:AD:DP:GQ:PL	0/1:24,16:40:99:365,0,639	9	0	1	0
chr12	50134563	50134563	C	A	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon9:c.G1012T:p.A338S,CERS5:NM_001331071:exon9:c.G1012T:p.A338S,CERS5:NM_147190:exon9:c.G1012T:p.A338S,CERS5:NM_001281731:exon10:c.G838T:p.A280S,CERS5:NM_001331069:exon10:c.G838T:p.A280S,CERS5:NM_001331072:exon10:c.G580T:p.A194S,CERS5:NM_001331073:exon10:c.G580T:p.A194S	.	426	1093	3	0	0	3	0.00137049	.	.	.	2396078	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.0119834152789	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs776527448	4.994e-05	4.994e-05	3.539e-05	6.463e-05	0.0009	4.059e-05	3.734e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	3.957e-05	9.934e-05	0.0002	3.283e-05	3.281e-05	2.569e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0.0002	0.296	0.14694	T	0.568	0.10750	T	0.125	0.26866	B	0.074	0.28220	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.29	0.65257	M	2.63	0.12884	T	-1.73	0.41046	N	0.638	0.65074	-0.7019	0.60347	T	0.240	0.60750	T	10	0.39509186	0.55169	T	0.011983	0.30135	T	0.176	0.44373	0.452	0.51448	0.443285836454	0.43952	0.6155400670588785	0.61486	0.365336773763	0.38131	0.571252584457	0.48855	T	0.118161	0.43877	T	-0.188081	0.22540	T	-0.21175	0.53528	T	0.256752192974091	0.23172	T	0.906409	0.67021	D	0.28846425	0.51849	0.25472623	0.51143	0.28846425	0.51849	0.25472623	0.51142	-6.197	0.48936	T	.	.	0.201	0.42549	B	.;.	.;.	4.192946	0.63207	24.6	0.99353555017754025	0.60697	0.99078	0.90902	D	AEFDGBI	0.923791	0.90081	D	0.511213802635742	0.67751	5.123727	0.569980475936847	0.72799	5.866948	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.794000	0.84430	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	18.905	0.92430	229	0.91079	.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 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	1155.43	33	chr12	50134563	.	C	A	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.293;SOR=0.657	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1167,0,1463	9	0	1	0
chr12	51341283	51341283	T	G	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon5:c.A424C:p.N142H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.0710694041013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.026	0.55759	D	0.998	0.73220	D	0.97	0.72226	D	0.000110	0.50451	D	0.201649	0.999806	0.49283	D	1.195	0.30194	L	-2.43	0.88689	D	-3.62	0.69593	D	0.258	0.29197	0.271	0.87085	D	0.717	0.90290	D	10	0.36830625	0.53276	T	0.071069	0.71172	D	0.512	0.79094	0.617	0.75116	0.783247047901	0.78124	0.4468493704695534	0.44602	0.180464951162	0.20297	0.31728720665	0.13009	T	0.519467	0.83168	D	-0.0233687	0.48372	T	-0.271344	0.47683	T	0.960074663162231	0.65706	D	0.525947	0.17303	T	0.35840684	0.57714	0.31719327	0.57696	0.35840684	0.57714	0.31719327	0.57695	-9.62	0.71603	D	.	.	0.149	0.32945	B	.	.	2.338110	0.29957	18.29	0.99532510571281729	0.69963	0.69764	0.34318	D	ALL	0.384408	0.46554	N	0.104765132330059	0.46685	2.905107	0.0329442109269923	0.41254	2.475473	0.99999991918703	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	5.2	1.49	0.21966	1.099000	0.30625	-0.894000	0.07016	-1.448000	0.01097	1.000000	0.71638	0.012000	0.20211	0.966000	0.53164	0.0:0.148:0.1363:0.7156	6.130	0.19418	305	0.87738	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1483.43	38	chr12	51341283	.	T	G	1483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.543;DP=455;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.104;SOR=0.79	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1495,0,1276	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	0/1:34,16:50:98:.:.:98,0,615:.	2	0	4	4
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	36.13	68	chr12	52385056	.	G	C	36.13	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.028;DP=778;ExcessHet=0;FS=546.894;InbreedingCoeff=-0.0866;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=0.933;SOR=8.813	GT:AD:DP:GQ:PL	0/1:61,11:84:47:47,0,2048	8	0	1	1
chr12	53185420	53185420	C	T	exonic	ZNF740	.	nonsynonymous SNV	ZNF740:NM_001004304:exon4:c.C193T:p.R65C	.	430	1057	34	1	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0244779474361	0.0054	0.00159744	0.0052	0.0004	0.0034	0	0.0047	0.0070	0.0045	0.0050	0.0052134	806	154602	rs187594342	0.0068	0.0068	0.0068	0.0068	0.0092	0.0067	0.0067	0.0073	0.0073	0.0012	0.0027	0.0179	2.519e-05	0.0042	0.0092	0.0074	0.0073	0.0040	0.0044	0.0044	0.0044	0.0044	0.0065	0.0041	0.0040	0.0060	0.0058	0.0008	0.0011	0.0020	0.0225	0	0.0047	0.0034	0.0065	0.0071	0.0042	0.0	0.91255	D	0.002	0.79402	D	0.931	0.51899	P	0.061	0.26820	B	0.002536	0.36389	N	0.194783	0.999999	0.58761	D	1.87	0.49600	L	3.07	0.08547	T	-1.24	0.31375	N	0.584	0.60495	-0.8420	0.52513	T	0.008	0.02679	T	10	0.0073727965	0.00168	T	0.024478	0.47468	T	0.087	0.25287	.	.	0.171220215726	0.16700	0.3601703895602559	0.35931	1.08449223616	0.77234	0.688966810703	0.65558	T	0.046019	0.27299	T	-0.332407	0.05931	T	-0.243717	0.50435	T	0.0609010521928479	0.07310	T	0.838916	0.51225	T	0.23191017	0.45970	0.1342924	0.32183	0.23191017	0.45970	0.1342924	0.32182	-4.923	0.35993	T	.	.	0.218	0.44847	B	.	.	5.114336	0.85514	28.6	0.99923972068901667	0.98917	0.91169	0.52995	D	AEFBI	0.534972	0.55379	D	0.0597712260261759	0.44592	2.73052	0.157251626061201	0.47527	2.981637	0.999994350597713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	3.96	0.45097	4.313000	0.58952	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9094:0.0:0.0906	10.685	0.45033	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.004076	0.000000	0.050000	0.008621	0.018293	0.026515	0.05	694.43	33	chr12	53185420	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.42;DP=360;ExcessHet=0;FS=4.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.43;SOR=1.386	GT:AD:DP:GQ:PL	0/1:21,24:45:99:706,0,418	9	0	1	0
chr12	53973795	53973795	C	A	exonic	HOXC11	.	nonsynonymous SNV	HOXC11:NM_014212:exon1:c.C554A:p.P185Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.20393996204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.943e-07	6.841e-07	1.379e-06	0	3.081e-05	0	0	.	.	3.081e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.29688	T	0.115	0.36630	T	0.001	0.07471	B	0.001	0.04355	B	0.000511	0.43753	D	0.197709	0.891747	0.35968	D	0	0.06538	N	-2.95	0.91903	D	-1.67	0.42001	N	0.114	0.35194	-0.1376	0.79224	T	0.491	0.80673	T	10	0.17142197	0.31859	T	0.20394	0.86903	D	0.074	0.21613	0.325	0.30711	0.912192421923	0.91131	0.46548259915495976	0.46467	.	.	0.780344367027	0.78979	T	0.036082	0.30084	T	-0.00928102	0.50366	T	-0.251108	0.49707	T	0.402309520924846	0.29029	T	0.556144	0.20452	T	0.10628061	0.25129	0.20598917	0.44792	0.10628061	0.25129	0.20598917	0.44791	-5.209	0.39033	T	.	.	0.072	0.10159	B	.;.	.;.	2.905113	0.38521	20.8	0.92200239905065018	0.21570	0.70686	0.34694	D	ALL	0.174200	0.30132	N	-0.263367602100421	0.30573	1.706008	-0.0766032370036616	0.36361	2.115014	0.9999999999998	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.21	3.24	0.36257	4.049000	0.57110	2.596000	0.33495	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.2366:0.7634:0.0:0.0	11.385	0.49019	211	0.91797	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2491.14	38	chr12	53973795	.	C	A	2491.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=531;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.545;SOR=0.678	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1200,0,998	8	0	2	0
chr12	55426420	55426420	C	G	exonic	OR6C76	.	nonsynonymous SNV	OR6C76:NM_001005183:exon1:c.C167G:p.P56R	.	434	1082	6	0	0	6	0.00276498	.	.	.	2735439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0132700389094	.	.	0.0001	9.615e-05	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs778131455	7.526e-05	7.524e-05	5.582e-05	9.49e-05	0.0035	6.383e-05	5.939e-05	0.0023	0.0019	0.0001	0	0	0	1.873e-05	0.0035	5.576e-05	0.0002	0.0001	1.314e-05	1.312e-05	2.571e-05	0	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.968	0.71741	D	0.000692	0.42383	U	0.000000	0.952997	0.37810	D	3.965	0.96539	H	4.49	0.02049	T	-8.03	0.96581	D	0.728	0.72925	-0.7422	0.58339	T	0.064	0.26349	T	10	0.80940235	0.80241	D	0.01327	0.32542	T	0.196	0.47777	.	.	0.204665344411	0.20097	0.40013164558105546	0.39928	0.265818566732	0.29134	0.222269922495	0.01445	T	0.013642	0.11764	T	-0.246786	0.14496	T	-0.300119	0.44712	T	0.967052042484283	0.67783	D	0.850515	0.53399	D	0.8880923	0.90344	0.8630441	0.92388	0.8880923	0.90346	0.8630441	0.92388	-10.876	0.78973	D	.	.	0.191	0.40952	B	.	.	2.739929	0.35886	20.1	0.99795603440528824	0.88106	0.97970	0.78525	D	AEFI	0.510336	0.53943	D	0.855644782669748	0.89428	9.967367	0.68748287372722	0.81429	7.524262	0.341869315816874	0.19592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	5.481000	0.66549	.	.	0.520000	0.23804	0.984000	0.35821	0.138000	0.23065	0.855000	0.40485	0.0:1.0:0.0:0.0	17.015	0.86290	707	0.57054	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	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.1	3553.14	42	chr12	55426420	.	C	G	3553.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.92;DP=685;ExcessHet=0.2348;FS=4.751;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.971;SOR=0.737	GT:AD:DP:GQ:PL	0/1:104,82:186:99:2019,0,2389	8	0	2	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	254.49	72	chr12	56716773	.	G	C	254.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.619;DP=670;ExcessHet=0.7463;FS=223.803;InbreedingCoeff=-0.1778;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.538;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,5:65:32:.:.:32,0,2085:.	7	0	3	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	124.42	79	chr12	56716774	.	T	C	124.42	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.33;DP=666;ExcessHet=0.2348;FS=149.279;InbreedingCoeff=-0.1227;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,9:67:51:.:.:51,0,2080:.	8	0	2	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012097	0.000000	0.021739	0.002924	0.000000	0.051724	0.000000	0.003788	0.15	3496.45	37	chr12	57002801	.	G	A	3496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.36;DP=576;ExcessHet=0.7463;FS=1.936;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.357;SOR=0.836	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1762,0,1235	7	0	3	0
chr12	57044140	57044140	C	A	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon9:c.G710T:p.G237V,MYO1A:NM_001256041:exon10:c.G710T:p.G237V	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.1354818905	.	0.000399361	0.0005	0	0	0	0	1.498e-05	0.0011	0.0036	0.0004075	63	154602	rs560195758	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	6.708e-05	0	2.519e-05	0	0	4.496e-06	0.0002	0.0035	9.192e-05	9.186e-05	1.285e-05	0.0002	0.0029	5.524e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.005	0.63226	D	0.031	0.53788	D	1.0	0.90584	D	1.0	0.97372	D	0.000184	0.48115	D	0.174340	1	0.81001	D	2.865	0.83145	M	-2.46	0.88924	D	-3.65	0.69950	D	0.658	0.66787	0.831	0.94797	D	0.834	0.94429	D	10	0.108454645	0.20189	T	0.135482	0.81794	D	0.641	0.86333	0.715	0.85051	0.918274983411	0.91745	0.6861370824405457	0.68553	0.386541254398	0.39939	0.437900453806	0.30291	T	0.736438	0.92664	D	-0.148664	0.28520	T	0.0112561	0.71063	D	0.20370182979876	0.20618	T	0.758124	0.38180	T	0.5532322	0.70136	0.47304904	0.69454	0.5532322	0.70137	0.47304904	0.69455	-10.299	0.75682	D	.	.	0.152	0.33573	B	.;.	.;.	3.302575	0.45341	22.1	0.99762685991083577	0.85172	0.94239	0.60538	D	AEFGBI	0.628709	0.61069	D	0.647120448111958	0.76184	6.439575	0.534174003780549	0.70306	5.485601	0.999802481960567	0.43304	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.81	4.81	0.61401	2.999000	0.49161	1.439000	0.26511	0.599000	0.40250	0.974000	0.34632	0.277000	0.24084	0.034000	0.13613	0.0:1.0:0.0:0.0	13.578	0.61350	180	0.92993	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1373.43	33	chr12	57044140	.	C	A	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.605;DP=400;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.898;SOR=0.555	GT:AD:DP:GQ:PL	0/1:33,51:84:99:1385,0,851	9	0	1	0
chr12	57810378	57810378	C	A	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon6:c.G732T:p.Q244H	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	0.00219649	0.0019	9.612e-05	8.642e-05	0	0	4.496e-05	0.0022	0.0138	0.0016559	256	154602	rs553704153	0.0009	0.0009	0.0005	0.0013	0.0149	0.0009	0.0009	0.0142	0.0139	0	0	0	0	0	0	7.194e-06	0.0008	0.0149	0.0005	0.0005	0.0002	0.0009	0.0170	0.0004	0.0004	0.0140	0.0129	0	0	0	0	0	0	0	0	0	0.0170	0.059	0.37536	T	0.182	0.29249	T	0.99	0.63424	D	0.894	0.63417	P	0.000002	0.62929	D	0.062217	0.992705	0.41719	D	2.455	0.71248	M	1.6	0.28604	T	-2.77	0.58733	D	0.236	0.26596	-0.9864	0.33494	T	0.134	0.44700	T	10	0.0045081675	0.00093	T	.	.	.	0.119	0.33137	0.313	0.28774	0.392239652056	0.38839	0.4858277189055344	0.48502	0.114269200615	0.12884	0.371850579977	0.21098	T	0.47864	0.80838	T	-0.47916	0.00748	T	-0.450026	0.27695	T	0.14904947594138	0.17027	T	0.693931	0.30359	T	0.22551382	0.45214	0.20115821	0.44081	0.22551382	0.45214	0.20115821	0.44080	-6.569	0.50816	T	0.33912104432035944	0.43694	0.152	0.33710	B	.	.	3.053401	0.40982	21.3	0.99599399067747163	0.74101	0.37034	0.25669	N	AEFGBCI	0.269338	0.38563	N	-0.0145458003384868	0.41197	2.459923	-0.119999220196825	0.34584	1.991036	0.956089929611213	0.28227	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.19	2.33	0.27981	0.404000	0.20722	0.486000	0.18854	-0.202000	0.08738	0.036000	0.20778	0.997000	0.33255	0.927000	0.46353	0.0:0.6769:0.0:0.3231	8.284	0.31075	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1257.43	36	chr12	57810378	.	C	A	1257.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=459;ExcessHet=0;FS=5.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.612;SOR=1.163	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1269,0,1762	9	0	1	0
chr12	66541927	66541927	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon3:c.G160A:p.V54I,GRIP1:NM_001366722:exon3:c.G160A:p.V54I,GRIP1:NM_001366723:exon3:c.G238A:p.V80I,GRIP1:NM_001366724:exon3:c.G238A:p.V80I,GRIP1:NM_001379345:exon3:c.G238A:p.V80I,GRIP1:NM_001379346:exon3:c.G160A:p.V54I,GRIP1:NM_001379347:exon3:c.G238A:p.V80I,GRIP1:NM_001379348:exon3:c.G238A:p.V80I,GRIP1:NM_001379349:exon3:c.G163A:p.V55I,GRIP1:NM_001379351:exon3:c.G163A:p.V55I,GRIP1:NM_021150:exon3:c.G160A:p.V54I	Fraser syndrome, Autosomal recessive	2	1495	25	0	0	25	0.00829187	.	.	.	389156	not_specified|not_provided|Fraser_syndrome_3|Abnormal_brain_morphology	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0182897217256	0.0007	0.000399361	0.0012	0.0003	0.0014	0	0.0002	0.0016	0.0011	0.0013	0.001119	173	154602	rs199768740	0.0010	0.0010	0.0009	0.0010	0.0168	0.0009	0.0009	0.0141	0.0131	0.0003	0.0017	0.0063	0	3.744e-05	0.0168	0.0007	0.0020	0.0014	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0016	0.0072	0	0	0.0136	0.0009	0.0033	0.0008	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.82	0.48142	T	-0.69	0.24460	N	0.618	0.65930	-0.7051	0.60193	T	0.268	0.63950	T	9	0.010997534	0.00242	T	0.01829	0.40304	T	0.236	0.53931	.	.	0.431952752558	0.42816	0.3142456696913275	0.31337	0.415408216201	0.42198	0.571003317833	0.48820	T	0.28128	0.65400	T	-0.340646	0.05343	T	-0.29217	0.45547	T	0.827088177204132	0.48305	D	0.911709	0.69569	D	0.23895912	0.46780	0.115309395	0.27836	0.183039	0.39552	0.12022018	0.29014	-9.13	0.68530	D	0.370159556025135	0.46576	0.335	0.55590	B	.;.;.;.;.	.;.;.;.;.	3.536596	0.49643	22.8	0.997322703419811	0.82833	0.98409	0.82480	D	AEFI	0.912047	0.87216	D	0.434122937676274	0.63307	4.562121	0.345096248019264	0.58213	3.990521	0.999999982334639	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	19.465	0.94927	721	0.55360	.;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	0.009567	0.025253	0.013587	0.011696	0.000000	0.008621	0.000000	0.003788	0.05	1170.43	33	chr12	66541927	.	C	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.736;SOR=0.751	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1182,0,1284	9	0	1	0
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.15	4632.45	36	chr12	71577986	.	C	G	4632.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.166;DP=652;ExcessHet=0.7463;FS=1.104;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.084;SOR=0.81	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1632,0,1287	7	0	3	0
chr12	75391267	75391267	G	A	exonic	GLIPR1L2	.	nonsynonymous SNV	GLIPR1L2:NM_001270396:exon1:c.G151A:p.V51I,GLIPR1L2:NM_152436:exon1:c.G151A:p.V51I	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00400623964211	0.0021	0.000399361	0.0026	0.0006	0.0015	0	0.0017	0.0040	0.0033	0.0007	0.0024321	376	154602	rs146467128	0.0030	0.0030	0.0031	0.0030	0.0047	0.0030	0.0029	0.0033	0.0033	0.0006	0.0018	0.0076	2.519e-05	0.0013	0.0047	0.0034	0.0030	0.0006	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0019	0.0032	0.0031	0.0005	0	0.0009	0.0075	0	0.0007	0.0034	0.0036	0.0038	0.0002	0.175	0.22400	T	0.176	0.29843	T	0.086	0.24919	B	0.008	0.13708	B	0.105615	0.19650	N	0.513006	1	0.81001	D	0.695	0.17993	N	2.99	0.09262	T	-0.78	0.23590	N	0.195	0.22098	-0.9926	0.31933	T	0.016	0.06473	T	10	0.003818214	0.00072	T	0.004006	0.09493	T	0.014	0.01968	.	.	0.270001397563	0.26616	0.22744089038220763	0.22659	0.0379314049417	0.04027	0.466479957104	0.34198	T	0.01303	0.11342	T	-0.51654	0.00461	T	-0.516223	0.20678	T	0.0304025773741608	0.02052	T	0.611839	0.25562	T	0.055617258	0.10834	0.09886479	0.23584	0.055617258	0.10833	0.09886479	0.23584	-3.799	0.21373	T	.	.	0.115	0.23535	B	.;.;.	.;.;.	1.938200	0.24616	16.46	0.98798855272062636	0.46413	0.36009	0.25434	N	ALL	0.083016	0.16816	N	-0.605943996161877	0.18765	0.9768618	-0.483843414062275	0.22598	1.228215	0.999999999999999	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.77	2.88	0.32617	0.956000	0.28799	3.523000	0.38910	-0.119000	0.14319	0.681000	0.28448	0.996000	0.32793	0.940000	0.48062	0.1167:0.0:0.8833:0.0	7.532	0.26858	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.007576	0.05	1730.43	41	chr12	75391267	.	G	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=478;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.907;SOR=0.622	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1742,0,1609	9	0	1	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.05	921.43	40	chr12	79621147	.	T	C	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.532;DP=441;ExcessHet=0;FS=1.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.372;SOR=0.955	GT:AD:DP:GQ:PL	0/1:46,40:86:99:933,0,1161	9	0	1	0
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	0/1:39,37:76:99:834,0,1063	8	0	2	0
chr12	88079219	88079219	C	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon39:c.G5237A:p.R1746Q	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	5	1461	53	3	0	59	0.019792	.	.	YES	131794	Meckel_syndrome,_type_4|Joubert_syndrome|Nephronophthisis|Meckel-Gruber_syndrome|not_specified|not_provided|Retinal_dystrophy|Kidney_disorder|Senior-Loken_syndrome_6|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|Leber_congenital_amaurosis	MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	.	0.0073	0.0113818	0.0119	0.0024	0.0052	0.0070	0.0017	0.0082	0.0058	0.0441	0.0107696	1665	154602	rs61941020	0.0099	0.0100	0.0089	0.0109	0.0403	0.0098	0.0097	0.0392	0.0387	0.0018	0.0052	0.0065	0.0060	0.0029	0.0211	0.0085	0.0121	0.0403	0.0071	0.0071	0.0068	0.0074	0.0430	0.0068	0.0066	0.0381	0.0363	0.0017	0	0.0098	0.0055	0.0084	0.0025	0.0137	0.0080	0.0091	0.0430	0.221	0.18889	T	0.275	0.22016	T	0.466	0.36465	P	0.048	0.24975	B	0.000002	0.62929	D	0.056184	0.732881	0.33738	D	1.61	0.41143	L	0.0	0.91478	T	0.11	0.05917	N	0.078	0.28028	-0.4601	0.70064	T	0.241	0.60929	T	10	0.0040839016	0.00080	T	.	.	.	0.372	0.69102	.	.	.	.	0.13677737081922756	0.13601	0.0587496926462	0.06521	0.46582710743	0.34108	T	0.113382	0.43038	T	-0.258765	0.13044	T	-0.112339	0.62424	T	0.0160605788174674	0.00385	T	0.891311	0.62583	D	0.053998865	0.10300	0.056384906	0.10063	0.05842994	0.11753	0.064280845	0.12861	-3.233	0.12888	T	0.2024184062002529	0.26922	0.114	0.27252	B	.;.;.	.;.;.	3.444251	0.47929	22.5	0.99851851418650239	0.93102	0.66180	0.32989	D	AEFBI	0.129836	0.24816	N	-0.208458088981086	0.32787	1.852941	-0.00546298069500753	0.39467	2.340608	0.952729764345514	0.28032	0.732398	0.92422	0	0.653731	0.59785	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.19	4.28	0.50183	2.760000	0.47262	1.427000	0.26414	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7111:0.0:0.2889	5.178	0.14473	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.017137	0.010204	0.013587	0.005848	0.000000	0.025862	0.012195	0.049242	0.05	514.43	28	chr12	88079219	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=311;ExcessHet=0;FS=4.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=2.26;SOR=0.202	GT:AD:DP:GQ:PL	0/1:19,22:41:99:526,0,441	9	0	1	0
chr12	108887506	108887506	C	T	exonic	DAO	.	nonsynonymous SNV	DAO:NM_001917:exon3:c.C251T:p.A84V	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.139380528404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.72154	T	0.012	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.049901	0.644584	0.81001	D	2.895	0.83812	M	1.17	0.80125	T	-2.76	0.67477	D	0.234	0.26354	0.425	0.89475	D	0.683	0.89040	D	10	0.7672936	0.76804	D	0.139381	0.82186	D	0.500	0.78350	0.631	0.76699	0.941913673381	0.94130	0.879160260496193	0.87883	0.296383753577	0.32023	0.41980278492	0.27809	T	0.078023	0.88857	T	0.112105	0.65570	D	-0.0767455	0.65141	T	0.973303735256195	0.70042	D	0.865313	0.56401	D	0.8648069	0.88455	0.70415854	0.82562	0.8648069	0.88456	0.70415854	0.82563	-8.324	0.63257	D	.	.	0.235	0.47665	B	.;.;.	.;.;.	4.521644	0.70897	25.6	0.99883026826557142	0.95892	0.96767	0.70829	D	AEFDBI	0.842534	0.75964	D	0.59920202224022	0.73126	5.915265	0.508282067301402	0.68548	5.235059	0.999999995011097	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	5.981000	0.70207	5.860000	0.50423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:1.0:0.0:0.0	18.024	0.89186	799	0.44747	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1944.43	35	chr12	108887506	.	C	T	1944.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.003;DP=498;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.368;SOR=0.579	GT:AD:DP:GQ:PL	0/1:95,85:180:99:1956,0,2588	9	0	1	0
chr12	109953174	109953174	T	C	exonic	GIT2	.	nonsynonymous SNV	GIT2:NM_001135214:exon13:c.A1160G:p.N387S,GIT2:NM_001330153:exon13:c.A1157G:p.N386S,GIT2:NM_001330154:exon13:c.A1160G:p.N387S,GIT2:NM_014776:exon13:c.A1160G:p.N387S,GIT2:NM_057169:exon13:c.A1160G:p.N387S,GIT2:NM_057170:exon13:c.A1160G:p.N387S,GIT2:NM_139201:exon13:c.A1160G:p.N387S,GIT2:NM_001135213:exon14:c.A1166G:p.N389S	.	427	1094	1	0	0	1	0.00045683	.	.	.	1277521	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	7.7e-05	0.0145767	0.0054	0	0.0003	0.0747	0	0	0	0.0001	0.0049676	768	154602	rs925368	0.0027	0.0027	0.0027	0.0027	0.0958	0.0026	0.0026	0.0933	0.0922	2.987e-05	0.0002	0	0.0958	1.872e-05	0.0002	1.709e-05	0.0019	0.0001	0.0028	0.0028	0.0023	0.0032	0.0800	0.0026	0.0025	0.0737	0.0712	0	0	6.531e-05	0	0.0800	9.423e-05	0	2.94e-05	0.0005	0.0004	0.088	0.34095	T	0.32	0.30045	T	0.01	0.26142	B	0.027	0.30579	B	0.000003	0.62929	D	0.132813	0.998504	0.81001	D	1.445	0.36358	L	-0.56	0.71543	T	-1.73	0.45222	N	0.534	0.56489	-0.9608	0.39031	T	0.026	0.11131	T	10	0.0020668805	0.00029	T	.	.	.	0.145	0.38592	.	.	0.63826945483	0.63529	0.12165101868610946	0.12092	0.517528454387	0.49617	0.506075561047	0.39674	T	0.117043	0.43683	T	-0.445609	0.01199	T	-0.353682	0.38782	T	0.0259033472016651	0.01393	T	0.953705	0.96662	D	0.12608741	0.29542	0.118274905	0.28551	0.12608741	0.29541	0.118274905	0.28550	-4.129	0.26068	T	.	.	0.076	0.10062	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.803283	0.54811	23.5	0.98305378696901513	0.40087	0.93651	0.58804	D	AEFBI	0.399284	0.47463	N	-0.181013414670229	0.33926	1.930378	-0.0513962169231911	0.37430	2.191448	0.999999006596762	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.246000	0.42794	5.072000	0.47187	0.609000	0.47794	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.282	0.65767	577	0.69927	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	468.43	34	chr12	109953174	.	T	C	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.577;DP=394;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-0.126;SOR=0.824	GT:AD:DP:GQ:PL	0/1:45,24:69:99:480,0,1050	9	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	296.11	94	chr12	110628923	.	G	A	296.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.906;DP=1262;ExcessHet=2.8389;FS=190.894;InbreedingCoeff=-0.329;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.048;SOR=10.732	GT:AD:DP:GQ:PL	0/1:106,39:145:37:37,0,1760	5	0	5	0
chr12	111803962	111803962	G	A	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_001204889:exon11:c.G1369A:p.E457K,ALDH2:NM_000690:exon12:c.G1510A:p.E504K	Alcohol sensitivity, acute, Autosomal dominant	0	1519	2	1	0	4	0.00131492	.	.	.	33429	ethanol_response_-_Toxicity|Alcohol_dependence|ALDH2-related_disorder|Alcohol_sensitivity,_acute|AMED_syndrome,_digenic|Susceptibility_to_hangover|SUBLINGUAL_NITROGLYCERIN,_SUSCEPTIBILITY_TO_POOR_RESPONSE_TO|ESOPHAGEAL_CANCER,_ALCOHOL-RELATED,_SUSCEPTIBILITY_TO	.|Human_Phenotype_Ontology:HP:0030955,MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780|.|MONDO:MONDO:0012454,MedGen:C2674838,OMIM:610251|MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151,Orphanet:611216|MedGen:C2608086|MedGen:C2676227|MedGen:C3149226	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	0.603	.	.	0.0357428	0.0213	0.0001	0.0011	0.2660	0	6.2e-05	0.0045	0.0002	0.0148122	2290	154602	rs671	0.0070	0.0070	0.0070	0.0069	0.2461	0.0068	0.0068	0.2420	0.2403	0.0001	0.0003	0	0.2461	3.771e-05	0.0002	3.607e-05	0.0059	0.0002	0.0078	0.0080	0.0067	0.0090	0.2249	0.0075	0.0073	0.2141	0.2098	0.0002	0	0.0009	0	0.2249	9.436e-05	0	2.94e-05	0.0047	0.0008	0.001	0.78490	D	0.018	0.59732	D	0.964	0.55854	D	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1.51794e-07	0.58761	P	1.275	0.32135	L	-1.13	0.77719	T	-3.42	0.67589	D	0.48	0.51494	-1.1143	0.02725	T	0.001	0.00318	T	9	0.001886636	0.00026	T	.	.	.	0.603	0.84345	.	.	.	.	0.8914064971685514	0.89110	1.0029003514	0.74471	0.694746732712	0.66387	T	0.720783	0.92107	D	-0.10205	0.36085	T	0.224456	0.84397	D	0.101933660921122	0.12568	T	0.987751	0.95824	D	0.9531528	0.96586	0.9483129	0.98297	0.9531528	0.96587	0.9483129	0.98297	-11.753	0.85911	D	.	.	0.902	0.82877	P	.;.	.;.	5.371320	0.90048	31	0.99923974063030097	0.98917	0.99838	0.99773	D	AEFDBI	0.970794	0.99299	D	0.852133059192022	0.89230	9.886821	0.865479742025659	0.93886	12.351	0.999999999999567	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	9.784000	0.98199	9.925000	0.82535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	20.609	0.99471	331	0.86429	.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.05	806.43	34	chr12	111803962	.	G	A	806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.005;DP=405;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-0.324;SOR=0.581	GT:AD:DP:GQ:PL	0/1:53,37:90:99:818,0,1312	9	0	1	0
chr12	115991196	115991196	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon17:c.C3758T:p.T1253I	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	684296	not_provided|MED13L-related_disorder|Transposition_of_the_great_arteries,_dextro-looped	MedGen:C3661900|.|MedGen:CN033072,OMIM:608808,Orphanet:860	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.146	0.00612592146233	0.0004	0.000798722	0.0010	0	0.0006	0	0.0003	0.0010	0	0.0025	0.0008926	138	154602	rs148416895	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0024	0.0023	8.961e-05	0.0005	0.0080	0	1.872e-05	0.0026	0.0004	0.0014	0.0027	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0	0	0.0006	0.0078	0	0	0	0.0005	0.0005	0.0025	0.106	0.29688	T	0.158	0.31629	T	0.037	0.20876	B	0.015	0.17295	B	0.007259	0.31508	N	0.394228	0.997324	0.43798	D	0.755	0.19153	N	-0.84	0.74265	T	-1.32	0.32991	N	0.393	0.43417	-0.6662	0.62000	T	0.311	0.68175	T	10	0.007294178	0.00166	T	0.006126	0.16023	T	0.146	0.38789	.	.	0.228066490088	0.22430	0.23372975000366997	0.23287	0.651573886625	0.58386	0.488649129868	0.37250	T	0.044292	0.26771	T	-0.352281	0.04585	T	-0.282795	0.46517	T	0.0331141835950786	0.02490	T	0.89601	0.63722	D	0.049798757	0.08899	0.076509774	0.16951	0.0480852	0.08323	0.07949073	0.17898	-3.917	0.22557	T	0.1592602246679176	0.19352	0.106	0.19679	B	.;.	.;.	2.873096	0.37996	20.6	0.99432254145064325	0.64325	0.99106	0.91314	D	AEFBI	0.673394	0.63947	D	0.0772604476774236	0.45404	2.79746	0.251104425330985	0.52711	3.444226	0.999999999999976	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.356000	0.65817	7.450000	0.58952	0.618000	0.50648	0.915000	0.31815	0.999000	0.35428	0.997000	0.79791	0.0:0.0:1.0:0.0	19.915	0.97058	968	0.07033	.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	2476.43	34	chr12	115991196	.	G	A	2476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=548;ExcessHet=0;FS=9.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.355;SOR=1.03	GT:AD:DP:GQ:PL	0/1:123,97:220:99:2488,0,3140	9	0	1	0
chr12	117539745	117539745	C	T	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon10:c.G1661A:p.R554Q	.	427	1065	29	1	0	31	0.0143452	.	.	.	718017	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.379	.	0.0091	0.00459265	0.0081	0.0010	0.0068	0.0001	0.0017	0.0105	0.0106	0.0099	0.0076196	1178	154602	rs56214831	0.0084	0.0084	0.0084	0.0084	0.0124	0.0083	0.0082	0.0100	0.0091	0.0012	0.0070	0.0277	7.683e-05	0.0020	0.0124	0.0087	0.0089	0.0092	0.0068	0.0068	0.0071	0.0066	0.0107	0.0065	0.0064	0.0093	0.0088	0.0014	0.0077	0.0107	0.0294	0.0002	0.0013	0.0170	0.0094	0.0057	0.0079	0.566	0.06543	T	0.442	0.13252	T	0.288	0.32258	B	0.02	0.19048	B	0.000024	0.55875	D	0.111526	0.999979	0.53665	D	0.94	0.23649	L	-1.15	0.77964	T	0.37	0.03639	N	0.522	0.56403	-0.5338	0.67397	T	0.246	0.61530	T	10	0.008792639	0.00199	T	.	.	.	0.379	0.69696	.	.	0.667463514677	0.66466	0.3097378868121771	0.30886	1.79226602558	0.91530	0.667781233788	0.62521	T	0.218811	0.58164	T	-0.311289	0.07636	T	-0.209533	0.53740	T	0.0413929799216951	0.03943	T	0.951405	0.81464	D	0.120452665	0.28344	0.1019575	0.24422	0.120452665	0.28344	0.1019575	0.24422	-2.924	0.09386	T	.	.	0.221	0.45124	B	.;.	.;.	3.739757	0.53540	23.4	0.99363970985552119	0.61155	0.99743	0.99133	D	AEFDBI	0.937285	0.93483	D	-0.0874001848480555	0.37944	2.214994	0.135401763960851	0.46374	2.884342	0.999999999610757	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	7.905000	0.86479	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.805	0.91998	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009356	0.000000	0.004076	0.008982	0.000000	0.008621	0.019231	0.015625	0.05	1744.43	36	chr12	117539745	.	C	T	1744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.37;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.203;SOR=0.699	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1756,0,1726	9	0	1	0
chr12	117761028	117761028	G	C	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon4:c.C969G:p.D323E	.	433	1051	35	3	0	41	0.0191321	.	.	.	1590532	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.110	.	0.0025	0.0103834	0.0082	0.0002	0.0036	0.0001	0.0002	0.0037	0.0068	0.0414	0.0071927	1112	154602	rs141457085	0.0043	0.0043	0.0032	0.0056	0.0402	0.0043	0.0042	0.0391	0.0386	0.0004	0.0030	0.0071	0.0001	0.0002	0.0236	0.0019	0.0057	0.0402	0.0032	0.0032	0.0029	0.0035	0.0342	0.0030	0.0029	0.0299	0.0283	0.0005	0.0044	0.0041	0.0086	0.0004	0.0003	0.0340	0.0027	0.0057	0.0342	0.383	0.11085	T	0.519	0.10714	T	0.015	0.17086	B	0.01	0.14941	B	0.000015	0.62929	N	0.111914	0.881963	0.35769	D	0.815	0.20815	L	0.64	0.52867	T	-1.16	0.29727	N	0.212	0.23632	-1.1020	0.03857	T	0.065	0.26948	T	10	0.0028678179	0.00046	T	.	.	.	0.110	0.31079	0.289	0.24921	0.390598846067	0.38674	0.3763064201691893	0.37544	0.643779572933	0.57903	0.589513301849	0.51426	T	0.296005	0.66865	T	-0.589331	0.00169	T	-0.590034	0.13662	T	0.00410477713333887	0.00044	T	0.70223	0.31206	T	0.05982418	0.12203	0.0596812	0.11241	0.05982418	0.12202	0.0596812	0.11241	-3.052	0.10752	T	.	.	0.073	0.08705	B	.;.	.;.	-0.802662	0.01101	0.050	0.95443789358171249	0.26955	0.19524	0.20694	N	AEFDBI	0.369826	0.45641	N	-0.958532844071779	0.09502	0.450003	-0.952319441677368	0.10869	0.5502401	0.0015609673761638	0.08639	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.23	-2.89	0.05326	-2.914000	0.00763	-6.349000	0.01424	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.4978:0.2198:0.2823:0.0	6.890	0.23403	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015641	0.000000	0.013587	0.008772	0.055556	0.025862	0.030675	0.022727	0.05	465.43	33	chr12	117761028	.	G	C	465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=370;ExcessHet=0;FS=1.29;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.69;SOR=0.412	GT:AD:DP:GQ:PL	0/1:21,17:38:99:477,0,501	9	0	1	0
chr12	121779653	121779653	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon5:c.G481A:p.A161T	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0025	0.014377	0.0102	0.0012	0.0074	0.0233	0.0156	0.0046	0.0167	0.0305	0.0092431	1429	154602	rs34719836	0.0054	0.0054	0.0046	0.0062	0.0286	0.0053	0.0052	0.0276	0.0273	0.0014	0.0061	0.0345	0.0180	0.0144	0.0132	0.0018	0.0090	0.0286	0.0054	0.0054	0.0044	0.0065	0.0296	0.0051	0.0050	0.0257	0.0242	0.0011	0	0.0073	0.0265	0.0199	0.0151	0.0272	0.0021	0.0118	0.0296	0.267	0.16198	T	0.117	0.36365	T	0.041	0.21357	B	0.009	0.14300	B	0.000064	0.52346	D	0.130199	0.733097	0.81001	D	0.105	0.08473	N	-0.43	0.69657	T	-0.58	0.17417	N	0.031	0.14622	-0.9351	0.43379	T	0.065	0.27017	T	10	0.0039672554	0.00076	T	.	.	.	0.128	0.35103	.	.	.	.	0.5111428600780548	0.51036	0.251119777169	0.27690	0.389992594719	0.23669	T	0.117886	0.59509	T	-0.540859	0.00331	T	-0.52737	0.19550	T	0.0136014360657771	0.00252	T	0.60024	0.23960	T	0.03787948	0.04942	0.0666522	0.13684	0.03787948	0.04941	0.0666522	0.13683	-3.98	0.23503	T	.	.	0.166	0.36495	B	.;.;.	.;.;.	1.789484	0.22746	15.75	0.98776299459780836	0.46049	0.24544	0.22426	N	AEFDGBCI	0.057339	0.10672	N	-0.493553668647655	0.22291	1.189256	-0.335312879505817	0.26967	1.493189	0.99999977544347	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.02	4.07	0.46726	0.609000	0.23935	0.637000	0.20283	-0.171000	0.11205	0.221000	0.24547	0.146000	0.23136	0.892000	0.42986	0.0:0.7962:0.0:0.2038	8.108	0.30059	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.035354	0.042120	0.014620	0.000000	0.025862	0.015244	0.003788	0.05	671.43	33	chr12	121779653	.	C	T	671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.072;DP=374;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.48;SOR=0.346	GT:AD:DP:GQ:PL	0/1:34,30:64:99:683,0,749	9	0	1	0
chr12	122867358	122867358	G	A	exonic	VPS37B	.	nonsynonymous SNV	VPS37B:NM_024667:exon4:c.C616T:p.R206C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.116897473357	.	.	9.859e-06	0	0	0	0	1.839e-05	0	0	6.5e-06	1	154602	rs765772811	1.061e-05	1.437e-05	1.408e-05	7.109e-06	1.289e-05	6.37e-06	5.05e-06	7.48e-06	5.85e-06	0	0	0	0	0	0	1.289e-05	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.051	0.47828	T	1.0	0.90584	D	0.877	0.62241	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.41	0.57100	T	-2.92	0.63782	D	0.45	0.48780	-0.5429	0.67054	T	0.289	0.66094	T	10	0.43380514	0.57662	T	0.116897	0.79652	D	0.309	0.63055	0.248	0.18447	0.20808081866	0.20439	0.48077648969335846	0.47997	1.06096761696	0.76471	0.773575484753	0.77959	T	0.122664	0.44650	T	0.131701	0.67526	D	-0.048597	0.67118	D	0.949714839458466	0.63174	D	0.921608	0.71541	D	0.20123264	0.42127	0.12567632	0.30277	0.20123264	0.42127	0.12567632	0.30277	-4.299	0.28163	T	.	.	0.332	0.55390	B	.;.	.;.	4.728777	0.76146	26.5	0.99785931874657285	0.87219	0.94455	0.61221	D	AEFDBHCI	0.725793	0.67466	D	0.277813454145007	0.55024	3.666997	0.207482130056614	0.50264	3.220111	0.999999340409688	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.44	4.54	0.55220	2.917000	0.48518	9.501000	0.80908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.0:0.7115:0.2885	13.289	0.59697	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	731.43	39	chr12	122867358	.	G	A	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=395;ExcessHet=0;FS=3.402;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.636;SOR=0.368	GT:AD:DP:GQ:PL	0/1:38,28:66:99:743,0,940	9	0	1	0
chr12	123744756	123744756	G	A	exonic	ATP6V0A2	.	nonsynonymous SNV	ATP6V0A2:NM_012463:exon12:c.G1486A:p.A496T	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	177270	not_provided|not_specified|ALG9_congenital_disorder_of_glycosylation|Inborn_genetic_diseases|ATP6V0A2-related_disorder|Cutis_laxa_with_osteodystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.079	0.041143854896	.	0.00159744	0.0013	0	0.0003	0.0001	0	0.0008	0.0033	0.0062	0.0011966	185	154602	rs143142641	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.961e-05	0.0006	0.0014	0	0	0.0017	0.0004	0.0007	0.0066	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0045	0.0039	2.407e-05	0	0.0004	0.0014	0.0004	0	0	0.0005	0.0005	0.0062	0.518	0.07307	T	0.572	0.08746	T	0.002	0.09854	B	0.001	0.04355	B	0.037805	0.01839	N	2.173870	1	0.08975	N	0	0.06538	N	-1.85	0.84267	D	-0.14	0.09135	N	0.069	0.04188	-0.8099	0.54556	T	0.283	0.65458	T	10	0.013159156	0.00280	T	0.041144	0.59768	D	0.079	0.23065	.	.	0.225902525712	0.22197	0.45341008408235595	0.45259	0.155586269279	0.17559	0.221252664924	0.01383	T	0.14563	0.48284	T	-0.557043	0.00264	T	-0.571011	0.15357	T	0.0050169609138208	0.00054	T	0.441356	0.12220	T	0.016524712	0.00203	0.033193264	0.02174	0.013304375	0.00055	0.031012543	0.01631	-3.695	0.19244	T	.	.	0.065	0.01909	B	.	.	-0.149271	0.03360	0.596	0.70530275826382138	0.09326	0.13779	0.18047	N	AEFDBCI	0.045268	0.07385	N	-1.54998895494316	0.01535	0.06702592	-1.58266884174898	0.01761	0.08012034	0.0318883539184954	0.14026	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-4.18	0.03584	-0.148000	0.10203	-1.039000	0.06521	-2.148000	0.00374	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3262:0.1989:0.2726:0.2024	0.471	0.00496	345	0.85689	.	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.022727	0.05	2689.43	42	chr12	123744756	.	G	A	2689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=520;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.217;SOR=0.677	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2701,0,2340	9	0	1	0
chr12	123933349	123933349	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon76:c.A12961G:p.S4321G,DNAH10:NM_001372106:exon77:c.A13315G:p.S4439G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00411626074775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.108642	0.19518	N	0.557794	1	0.08975	N	1.32	0.33002	L	.	.	.	.	.	.	.	.	-0.9664	0.37934	T	0.015	0.05801	T	10	0.11146429	0.20873	T	0.004116	0.09838	T	0.037	0.09474	0.358	0.36060	0.0401082797425	0.02173	0.2119901339902374	0.21115	0.132148160993	0.14894	0.334663689137	0.15637	T	0.00487	0.04291	T	-0.369421	0.03624	T	-0.768424	0.02820	T	0.266849130392075	0.23612	T	0.784022	0.42156	T	0.14749323	0.33716	0.11949873	0.28843	0.14749323	0.33716	0.11949873	0.28842	-4.82	0.34823	T	.	.	0.081	0.08224	B	.;.	.;.	0.481313	0.08509	5.269	0.59061093231786788	0.06136	0.07398	0.13417	N	AEFDBI	0.123140	0.23860	N	-0.949091606872654	0.09713	0.4609085	-0.941620939011787	0.11118	0.5644556	0.0236133115351312	0.13520	0.549168	0.22868	0	0.610034	0.51514	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.18	-1.26	0.08892	0.795000	0.26632	0.035000	0.13787	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.741000	0.35472	0.4906:0.0:0.5094:0.0	11.324	0.48675	754	0.51307	Dynein heavy chain domain;Dynein heavy chain 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	1186.43	39	chr12	123933349	.	A	G	1186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.386;DP=419;ExcessHet=0;FS=8.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.442;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,35:97:99:0|1:123933342_C_T:1198,0,2449:123933342	9	0	1	0
chr12	130812996	130812996	T	C	exonic	STX2	.	nonsynonymous SNV	STX2:NM_001351049:exon4:c.A241G:p.I81V,STX2:NM_001351050:exon4:c.A241G:p.I81V,STX2:NM_001980:exon4:c.A241G:p.I81V,STX2:NM_194356:exon4:c.A241G:p.I81V	.	796	723	3	0	0	3	0.00207039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00293128081234	0.0005	0.000399361	0.0007	0	0.0012	0	0	0.0008	0.0044	0.0007	0.0006209	96	154602	rs145834567	0.0004	0.0005	0.0004	0.0005	0.0069	0.0004	0.0004	0.0051	0.0045	3.341e-05	0.0010	0.0017	0	0	0.0069	0.0004	0.0007	0.0007	0.0011	0.0011	0.0011	0.0012	0.0008	0.0010	0.0009	0.0006	0.0006	4.808e-05	0.1077	0.0005	0.0017	0	0	0	0.0008	0	0.0002	0.043	0.41364	D	0.065	0.44702	T	0.99	0.63424	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	2.58	0.75369	M	1.8	0.25344	T	-0.88	0.24460	N	0.368	0.40963	-0.8920	0.48758	T	0.156	0.48790	T	10	0.009507805	0.00214	T	0.002931	0.06221	T	0.131	0.35738	.	.	0.748185691702	0.74591	0.22864905077774259	0.22779	0.280242865958	0.30504	0.608721494675	0.54134	T	0.114741	0.43279	T	-0.366277	0.03787	T	-0.386854	0.34921	T	0.114977251285718	0.13932	T	0.975769	0.91515	D	0.34274346	0.56497	0.26938286	0.52818	0.34274346	0.56497	0.26938286	0.52817	-5.256	0.39506	T	.	.	0.195	0.41813	B	.;.	.;.	3.468696	0.48378	22.6	0.99886996944704631	0.96204	0.94159	0.60291	D	AEFBI	0.479302	0.52150	N	0.595593572336126	0.72899	5.878889	0.53157682863693	0.70127	5.459584	0.999999978865839	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	4.26	4.26	0.49832	4.896000	0.62911	5.976000	0.52084	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.655	0.56145	895	0.25842	.;Syntaxin, N-terminal domain|Syntaxin, N-terminal domain|Syntaxin, N-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	0.006559	0.000000	0.002717	0.029240	0.000000	0.000000	0.003067	0.000000	0.05	374.44	32	chr12	130812996	.	T	C	374.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.469;DP=236;ExcessHet=0;FS=0;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.652;SOR=0.519	GT:AD:DP:GQ:PL	0/1:22,17:39:99:386,0,509	9	0	1	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del	.	350	929	220	16	7	259	0.119431	.	.	.	3198656	EP400-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	9177.6	34	chr12	132062523	.	GGCA	G	9177.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.945;DP=1190;ExcessHet=0.3701;FS=0.523;InbreedingCoeff=0.1996;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.753;SOR=0.758	GT:AD:DP:GQ:PL	0/1:84,39:123:99:1235,0,3213	8	0	2	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46,SKA3:NM_145061:exon9:c.1238_1239insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.*413delinsCATQ*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	413.39	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	413.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.61;DP=378;ExcessHet=0;FS=8.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.253;SOR=1.72	GT:AD:DP:GQ:PL	0/1:52,14:66:99:425,0,2144	9	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1245.39	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	1245.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.56;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-3.061;SOR=0.671	GT:AD:DP:GQ:PL	0/1:65,35:100:99:1257,0,2592	9	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:97,60:167:99:311,0,1581	2	0	6	2
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	115.16	33	chr13	42303096	.	G	C	115.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.45;DP=837;ExcessHet=0.2348;FS=139.06;InbreedingCoeff=-0.1121;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.74;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,9:118:99:.:.:107,0,4102:.	8	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	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	0/1:106,24:130:99:.:.:195,0,3632:.	3	0	7	0
chr13	46553473	46553473	-	CCA	exonic	LRCH1	.	nonframeshift insertion	LRCH1:NM_001164211:exon1:c.77_78insCCA:p.H33_Q34insH,LRCH1:NM_001164213:exon1:c.77_78insCCA:p.H33_Q34insH,LRCH1:NM_015116:exon1:c.77_78insCCA:p.H33_Q34insH	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00439297	0.0011	0.0065	0.0072	0.0062	0	0	0	0	0.0011526	30	26028	rs533543595	0.0005	0.0005	0.0005	0.0004	0.0115	0.0004	0.0004	0.0105	0.0102	0.0115	0.0008	0	0.0029	0	0.0005	7.703e-05	0.0012	5.055e-05	0.0032	0.0033	0.0032	0.0032	0.0104	0.0030	0.0029	0.0096	0.0093	0.0104	0	0.0017	0	0.0027	0	0	0.0001	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1100.39	36	chr13	46553473	.	C	CCCA	1100.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.491;DP=370;ExcessHet=0;FS=2.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=1.93;SOR=0.358	GT:AD:DP:GQ:PL	0/1:21,28:49:99:1112,0,797	9	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	65.5	124	chr13	48459808	.	T	C	65.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.846;DP=820;ExcessHet=0.7463;FS=98.847;InbreedingCoeff=-0.1558;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.782;SOR=9.616	GT:AD:DP:GQ:PL	0/1:102,29:131:47:47,0,1881	7	0	3	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	0/1:72,46:118:99:198,0,953	0	0	10	0
chr13	75326228	75326228	G	C	exonic	TBC1D4	.	nonsynonymous SNV	TBC1D4:NM_001286658:exon10:c.C2002G:p.L668V,TBC1D4:NM_001286659:exon10:c.C2002G:p.L668V,TBC1D4:NM_014832:exon10:c.C2002G:p.L668V	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0289985838194	.	.	2.49e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759763499	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0003	1.048e-05	8.75e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.40319	T	0.036	0.52060	D	0.729	0.90584	P	0.623	0.84481	P	0.007292	0.31484	N	0.147378	0.999994	0.58761	D	2.05	0.56469	M	0.65	0.52642	T	-1.2	0.30964	N	0.505	0.53708	-0.8962	0.48370	T	0.202	0.55947	T	10	0.16101041	0.30213	T	0.028999	0.51584	D	0.151	0.39764	0.246	0.18139	0.655285266991	0.65241	0.5710197310555528	0.57029	1.09284184008	0.77491	0.512019395828	0.40505	T	0.08623	0.37901	T	-0.33773	0.05547	T	-0.430753	0.29849	T	0.287652403116226	0.24491	T	0.918208	0.71813	D	0.088550374	0.20660	0.06473003	0.13016	0.088550374	0.20660	0.06473003	0.13015	-7.72	0.59147	D	.	.	0.070	0.11749	B	.;.;.;.;.	.;.;.;.;.	3.215418	0.43783	21.8	0.98683902803236379	0.44652	0.85521	0.44662	D	ALL	0.275743	0.39063	N	-0.200692022945938	0.33104	1.874508	-0.296338441914409	0.28219	1.571653	0.999999877907866	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.48	1.84	0.24348	3.364000	0.52052	4.571000	0.43881	-0.633000	0.04490	0.998000	0.41325	1.000000	0.68203	0.307000	0.24666	0.1855:0.1165:0.6981:0.0	7.865	0.28693	966	0.07191	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3213.14	35	chr13	75326228	.	G	C	3213.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.342;DP=524;ExcessHet=0.2348;FS=5.225;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=2.2;SOR=0.452	GT:AD:DP:GQ:PL	0/1:45,64:109:99:1703,0,1200	8	0	2	0
chr13	85794314	85794314	C	T	exonic	SLITRK6	.	nonsynonymous SNV	SLITRK6:NM_032229:exon2:c.G2195A:p.G732E	Deafness and myopia, Autosomal recessive	420	1096	6	0	0	6	0.00272975	.	.	.	504604	SLITRK6-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00989627189309	0.0073	0.00199681	0.0048	0.0019	0.0018	0	0.0050	0.0073	0.0078	0.0008	0.0048188	745	154602	rs74591375	0.0071	0.0071	0.0074	0.0069	0.0085	0.0070	0.0070	0.0084	0.0083	0.0025	0.0026	0.0021	0	0.0045	0.0036	0.0085	0.0057	0.0010	0.0054	0.0054	0.0058	0.0050	0.0084	0.0051	0.0050	0.0078	0.0076	0.0032	0	0.0034	0.0014	0	0.0041	0.0171	0.0084	0.0066	0.0008	0.588	0.05844	T	1.0	0.01155	T	0.09	0.25173	B	0.038	0.23361	B	0.001593	0.38554	U	0.169822	0.998573	0.45107	D	1.735	0.44892	L	0.53	0.55090	T	-0.03	0.07444	N	0.342	0.38335	-1.0938	0.04929	T	0.063	0.26279	T	10	0.007871985	0.00179	T	0.009896	0.25788	T	0.061	0.17616	.	.	0.734331791237	0.73196	0.12945554590267244	0.12870	0.0591815698512	0.06573	0.599845409393	0.52882	T	0.077565	0.35685	T	-0.417704	0.01770	T	-0.359805	0.38076	T	0.0185077129968375	0.00566	T	0.861714	0.55578	D	0.07820364	0.17795	0.11474935	0.27700	0.09180066	0.21519	0.11538226	0.27852	-2.862	0.08769	T	.	.	0.127	0.26978	B	.;.;.	.;.;.	3.727571	0.53306	23.3	0.98396764371508483	0.41020	0.96848	0.71267	D	AEFBI	0.799694	0.72588	D	-0.261908228998192	0.30631	1.709741	-0.0815979451378133	0.36151	2.100223	0.995934296147342	0.34418	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.84	4.13	0.47661	5.627000	0.67460	4.925000	0.46078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.8728:0.0:0.1272	11.720	0.50940	973	0.05605	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010070	0.020202	0.013587	0.014620	0.000000	0.000000	0.006098	0.000000	0.05	1708.43	35	chr13	85794314	.	C	T	1708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.182;SOR=0.689	GT:AD:DP:GQ:PL	0/1:92,65:157:99:1720,0,2488	9	0	1	0
chr13	95633288	95633288	C	A	exonic	DZIP1	.	nonsynonymous SNV	DZIP1:NM_014934:exon6:c.G631T:p.A211S,DZIP1:NM_198968:exon6:c.G631T:p.A211S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00223617204554	.	.	0.0002	0	0.0011	0	0	9.043e-05	0.0011	0	0.0001294	20	154602	rs750389191	3.831e-05	3.831e-05	4.22e-05	3.438e-05	0.0014	3.025e-05	2.719e-05	0.0007	0.0005	0	0.0005	0	0	0	0.0014	1.529e-05	0.0001	0	1.97e-05	1.969e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0.0002	0	0	0	0.0005	0	0.787	0.05668	T	0.844	0.03569	T	0.778	0.44187	P	0.28	0.40294	B	0.000032	0.55875	D	0.160014	0.942852	0.26738	N	0.755	0.19153	N	0.89	0.45636	T	0.21	0.05035	N	0.145	0.15187	-1.0576	0.12362	T	0.046	0.19800	T	10	0.089390576	0.15480	T	0.002236	0.04233	T	0.170	0.43303	0.487	0.57098	0.666050317778	0.66323	0.08021744628669977	0.07956	0.139580379967	0.15735	0.442376255989	0.30902	T	0.031526	0.22080	T	-0.451359	0.01109	T	-0.575604	0.14939	T	0.0614076852798462	0.07389	T	0.778122	0.41194	T	0.08482213	0.19650	0.07145539	0.15304	0.08482213	0.19650	0.07145539	0.15303	-2.027	0.03284	T	.	.	0.138	0.30476	B	.;.;.;.	.;.;.;.	2.753311	0.36096	20.2	0.99299474979176294	0.58577	0.76982	0.37802	D	AEFBI	0.171169	0.29812	N	-0.0982473225363523	0.37468	2.180326	0.0876847057015311	0.43928	2.684497	0.999169216325452	0.38622	0.732398	0.92422	0	0.659912	0.62753	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.496000	0.53050	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2894:0.7106:0.0:0.0	12.115	0.53162	858	0.34001	.;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	0.002014	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.05	1102.43	33	chr13	95633288	.	C	A	1102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.742;DP=394;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.067;SOR=0.99	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1114,0,1020	9	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	492.36	185	chr13	102737670	.	C	G	492.36	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.067;DP=1484;ExcessHet=0.7463;FS=269.879;InbreedingCoeff=-0.3415;MLEAC=4;MLEAF=0.333;MQ=59.99;MQRankSum=0;QD=1.03;ReadPosRankSum=1.97;SOR=10.375	GT:AD:DP:GQ:PL	0/1:116,40:156:99:254,0,2632	3	0	3	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	184.94	208	chr13	102738219	.	C	G	184.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.991;DP=1624;ExcessHet=0.2348;FS=285.28;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=2.32;SOR=10.656	GT:AD:DP:GQ:PL	0/1:153,49:220:99:159,0,3668	4	0	2	4
chr13	109141245	109141245	C	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon32:c.C5033A:p.P1678H,MYO16:NM_015011:exon32:c.C4967A:p.P1656H	.	425	1093	4	0	0	4	0.00182648	.	.	.	3211092	MYO16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0004	0.0211661	0.0102	0.0020	0.0417	0.0654	0.0059	0.0004	0.0040	0.0023	0.0089585	1385	154602	rs116870463	0.0037	0.0038	0.0040	0.0035	0.0678	0.0036	0.0036	0.0657	0.0648	0.0011	0.0424	0.0001	0.0678	0.0055	0.0016	9.743e-05	0.0047	0.0024	0.0071	0.0072	0.0059	0.0084	0.0728	0.0068	0.0066	0.0667	0.0644	0.0017	0	0.0349	0	0.0728	0.0062	0	0.0002	0.0061	0.0023	0.001	0.78490	D	0.004	0.74150	D	0.8	0.44988	P	0.436	0.45556	B	0.386079	0.13321	U	0.608816	1	0.08975	N	1.59	0.40313	L	0.14	0.60854	T	-1.7	0.40468	N	0.098	0.12770	-1.1245	0.02065	T	0.018	0.07565	T	9	0.0019471645	0.00027	T	.	.	.	0.193	0.47281	.	.	.	.	0.04993532709084997	0.04936	1.30891436969	0.83166	0.395048320293	0.24378	T	0.007046	0.17018	T	-0.544484	0.00315	T	-0.49571	0.22793	T	0.0513821160435711	0.05741	T	.	.	.	0.13216352	0.30783	0.22196105	0.47024	0.14883794	0.33960	0.22196105	0.47023	-5.629	0.43057	T	0.18133802164678425	0.23377	0.121	0.30238	B	.;.;.	.;.;.	2.926884	0.38873	20.8	0.99179443557318525	0.54643	0.97463	0.74912	D	AEFDBI	0.523063	0.54682	D	-0.0200675543879008	0.40947	2.440652	-0.068258345123062	0.36710	2.139921	0.999999998571309	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.93	4.07	0.46726	5.439000	0.66307	0.323000	0.17205	0.545000	0.25583	0.961000	0.33663	0.001000	0.17328	0.003000	0.05239	0.0:0.915:0.0:0.085	11.752	0.51119	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	0	0	1	0	0.003532	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	880.43	67	chr13	109141245	.	C	A	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.187;DP=628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.632;SOR=0.598	GT:AD:DP:GQ:PL	0/1:42,37:79:99:892,0,1111	9	0	1	0
chr13	112547518	112547547	CGCGCGTGGGAAAGACGTGCATGGGAAAGT	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1241_1270del:p.D414_R423del	.	440	1071	10	1	0	12	0.00557103	.	.	.	2814050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0063	0.0010	0.0011	0.0036	0.0018	0	0.0096	3.84e-05	1	26028	rs1464179058	0.0017	0.0016	0.0017	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0022	0.0007	0.0001	9.457e-05	0.0026	0.0058	0.0015	0.0028	0.0064	0.0020	0.0020	0.0017	0.0024	0.0050	0.0018	0.0018	0.0034	0.0029	0.0024	0	0.0021	0	0.0008	0.0038	0.0034	0.0015	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3714.01	204	chr13	112547517	.	ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A	3714.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.12;DP=1028;ExcessHet=0;FS=4.502;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.297;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,104:229:99:0|1:112547505_C_T:3725,0,4615:112547505	8	0	1	1
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	12824.1	179	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	*	12824.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.227;DP=1296;ExcessHet=0.6204;FS=0.52;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.281;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,104:229:99:0|1:112547505_C_T:3725,0,4615:112547505	9	0	1	0
chr14	20435525	20435525	G	-	exonic	KLHL33	.	frameshift deletion	KLHL33:NM_001365790:exon2:c.287delC:p.P96Rfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	152.34	3	chr14	20435524	.	CG	C	152.34	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.703;DP=48;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=1.29;SOR=0.582	GT:AD:DP:GQ:PL	0/1:3,5:8:88:163,0,88	8	0	1	1
chr14	23101429	23101429	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon13:c.C1612A:p.P538T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16066426	0.30157	T	.	.	.	.	.	.	.	.	.	0.13372577843733077	0.13296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384162	0.09403	T	0.12466957	0.29245	0.21152586	0.45585	0.12466957	0.29244	0.21152586	0.45584	-4.355	0.28941	T	.	.	0.075	0.05535	B	.;.	.;.	2.066697	0.26282	17.06	0.60911711600687635	0.06579	0.56326	0.30088	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999943124698134	0.47345	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.058706	0.01089	0	0.148253	0.27256	4.9	0.577	0.16569	0.976000	0.29059	3.043000	0.36089	0.676000	0.76740	0.868000	0.30757	0.940000	0.28757	0.366000	0.26021	0.2761:0.1608:0.5631:0.0	4.624	0.11853	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	.	.	.	.	.	.	.	.	0.125	35.35	.	chr14	23101429	.	G	T	35.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	3	0	1	6
chr14	24143672	24143672	C	A	splicing	PSME2	NM_002818:exon10:c.553-1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43696	0.91876	D	0.389887	0.91775	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.133274	0.61874	24.4	0.99471592993268099	0.66365	0.98068	0.79327	D	AEFDBIJ	.	.	.	1.08724664359533	0.97891	16.97304	0.920777600714814	0.96416	14.67008	0.999999999967731	0.74766	0.163922	0.03765	0	0.177374	0.04040	0	0.231597	0.04857	0	0.117559	0.03655	0	0.985519	0.93241	4.84	4.84	0.62125	5.776000	0.68576	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	13.618	0.61590	892	0.26670	.;.;.	.	.	.	.	.	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	1948.43	34	chr14	24143672	.	C	A	1948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.833;DP=493;ExcessHet=0;FS=1.205;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=0.988;QD=11.6;ReadPosRankSum=-1.565;SOR=0.659	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1960,0,2123	9	0	1	0
chr14	35870416	35870416	G	A	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911A:p.S304N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00392158159419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.909e-07	6.16e-06	0	1.388e-06	3.036e-05	0	0	.	.	3.036e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.026	0.55759	D	0.421	0.35387	B	0.143	0.33763	B	0.000000	0.84330	D	0.111584	0.999995	0.58761	D	2.34	0.67151	M	.	.	.	-0.86	0.23372	N	0.351	0.39254	-0.6397	0.63158	T	0.253	0.62292	T	9	0.2619985	0.43664	T	0.003922	0.09242	T	0.206	0.49396	0.161	0.06507	0.43965937752	0.43585	0.547906895027508	0.54716	0.709260744387	0.61606	0.779643476009	0.78874	T	0.032588	0.22553	T	0.0293815	0.55641	T	-0.195572	0.55065	T	0.777600944042206	0.44900	D	0.785321	0.42297	T	0.2596511	0.49019	0.2739856	0.53323	0.2596511	0.49019	0.2739856	0.53322	-5.633	0.43093	T	.	.	0.317	0.54257	B	.	.	3.479125	0.48577	22.6	0.98770389585321949	0.45955	0.96420	0.69051	D	AEFGI	0.807404	0.73145	D	0.410616452888844	0.62004	4.409637	0.540354922838467	0.70728	5.548182	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	35.4	90	chr14	35870416	.	G	A	35.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.482;DP=915;ExcessHet=0;FS=286.556;InbreedingCoeff=-0.2127;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=1.23;SOR=8.468	GT:AD:DP:GQ:PL	0/1:60,27:108:43:43,0,835	4	0	1	5
chr14	39247322	39247322	T	C	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.T748C:p.S250P,MIA2:NM_054024:exon4:c.T748C:p.S250P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0180242904035	0.0004	0.000199681	0.0003	9.654e-05	0.0002	0	0.0002	0.0004	0	0.0001	0.0003169	49	154602	rs150000006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	8.949e-05	0	0	0.0001	0	0.0003	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.626e-05	0	6.54e-05	0	0	9.42e-05	0	0.0004	0	0	0.005	0.68238	D	0.007	0.69154	D	0.963	0.55692	D	0.696	0.54017	P	0.062785	0.22072	N	0.234402	0.999961	0.18878	N	2.34	0.67151	M	2.98	0.52187	T	-1.38	0.58248	N	0.391	0.45331	-0.9320	0.43844	T	0.171	0.51197	T	9	0.07811263	0.12410	T	0.018024	0.39939	T	0.125	0.34456	.	.	0.667875860975	0.66507	0.07185426951506377	0.07122	0.159575760648	0.18006	0.290090382099	0.08935	T	0.170857	0.51876	T	-0.292187	0.09417	T	-0.325418	0.41978	T	0.103766178126393	0.12766	T	0.679332	0.28809	T	0.10668909	0.25228	0.21922196	0.46654	0.10668909	0.25228	0.21922196	0.46653	-4.394	0.31045	T	.	.	0.099	0.25331	B	.;.;.	.;.;.	2.360458	0.30275	18.39	0.99556822214461937	0.71521	0.68907	0.33981	D	AEFDGBIJ	0.558799	0.56787	D	-0.0490550108068739	0.39644	2.341261	-0.0958735666911628	0.35561	2.05879	0.999971675423615	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	5.66	3.22	0.36041	1.985000	0.40289	0.887000	0.22442	-0.693000	0.04107	0.999000	0.42656	0.803000	0.26967	0.240000	0.23001	0.2668:0.0:0.2334:0.4999	5.826	0.17810	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1239.43	42	chr14	39247322	.	T	C	1239.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.006;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.763;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1251,0,1607	9	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	180.06	124	chr14	58138194	.	A	G	180.06	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.802;DP=1225;ExcessHet=0;FS=108.369;InbreedingCoeff=-0.0821;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.534;SOR=9.75	GT:AD:DP:GQ:PL	0/1:129,32:161:99:191,0,3113	8	0	1	1
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:40,20:60:99:196,0,699	3	0	7	0
chr14	61738101	61738101	G	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon10:c.G1336T:p.D446Y,HIF1A:NM_001530:exon10:c.G1264T:p.D422Y,HIF1A:NM_181054:exon10:c.G1264T:p.D422Y	.	453	1050	15	4	0	23	0.0108337	.	.	YES	714184	Enchondromatosis|not_provided	Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.0025	0.00339457	0.0042	0.0010	0.0052	0.0005	0.0003	0.0029	0.0059	0.0176	0.0038292	592	154602	rs149348765	0.0031	0.0031	0.0027	0.0035	0.0135	0.0030	0.0030	0.0128	0.0126	0.0005	0.0046	0.0046	0	0.0005	0.0098	0.0024	0.0039	0.0135	0.0026	0.0026	0.0026	0.0025	0.0119	0.0024	0.0023	0.0094	0.0085	0.0005	0.0011	0.0058	0.0038	0	0.0003	0.0210	0.0028	0.0038	0.0119	0.181	0.34982	T	0.274	0.44905	T	0.592	0.39119	P	0.285	0.40506	B	0.896885	0.07331	N	1.042340	0.999185	0.46274	D	1.67	0.42885	L	0.72	0.53516	T	-0.1	0.09135	N	0.421	0.46649	-1.0418	0.16770	T	0.088	0.33996	T	10	0.0072448254	0.00165	T	.	.	.	0.120	0.33359	.	.	0.689415230096	0.68675	0.36735301686045585	0.36649	0.206240801215	0.23047	0.452856063843	0.32334	T	0.306052	0.67827	T	-0.366052	0.03799	T	-0.287553	0.46027	T	0.0361810151235074	0.03013	T	0.938006	0.76748	D	0.104620844	0.24733	0.08811645	0.20524	0.104620844	0.24732	0.08811645	0.20524	-3.748	0.20029	T	.	.	0.098	0.16973	B	.;.;.;.;.	.;.;.;.;.	4.278755	0.65166	24.8	0.98733365136089013	0.45393	0.99019	0.90044	D	AEFDGBHIJ	0.787473	0.71724	D	0.295016695125541	0.55897	3.753701	0.42240438769022	0.62963	4.52103	0.999999694060353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.380000	0.65953	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0749:0.0:0.9251:0.0	12.867	0.57332	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.008152	0.002924	0.000000	0.034483	0.024390	0.026515	0.05	910.43	41	chr14	61738101	.	G	T	910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.142;SOR=0.828	GT:AD:DP:GQ:PL	0/1:30,36:66:99:922,0,772	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|1:65,19:84:99:0|1:64158707_T_C:256,0,1870:64158707	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|1:65,19:84:99:0|1:64158707_T_C:256,0,1870:64158707	5	0	5	0
chr14	65615996	65615996	T	G	exonic	FUT8	.	nonsynonymous SNV	FUT8:NM_178156:exon3:c.T222G:p.I74M,FUT8:NM_001371533:exon4:c.T222G:p.I74M,FUT8:NM_001371536:exon4:c.T222G:p.I74M,FUT8:NM_178155:exon4:c.T222G:p.I74M,FUT8:NM_001371534:exon5:c.T222G:p.I74M	.	422	1097	3	0	0	3	0.0013655	.	.	.	904593	not_provided|Congenital_disorder_of_glycosylation_with_defective_fucosylation_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00639101840458	.	0.000199681	8.584e-05	0	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs368415291	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0033	0.0028	5.984e-05	0.0002	3.831e-05	0	0	0.0047	0.0001	0.0003	8.125e-05	5.908e-05	5.905e-05	6.424e-05	5.369e-05	0.0004	3.074e-05	2.208e-05	7.296e-05	3.031e-05	0	0	6.532e-05	0	0	0	0	8.821e-05	0	0.0004	0.181	0.21884	T	0.142	0.33330	T	0.0	0.02946	B	0.001	0.04355	B	0.006625	0.31903	N	0.383826	0.977806	0.81001	D	0.41	0.12415	N	1.95	0.22474	T	-0.32	0.12283	N	0.299	0.33796	-1.0543	0.13225	T	0.025	0.10509	T	10	0.06055504	0.07457	T	0.006391	0.16812	T	0.046	0.12618	.	.	0.251679625132	0.24793	0.20247834277608576	0.20164	0.604138712811	0.55366	0.3335519135	0.15470	T	0.185927	0.53906	T	-0.423222	0.01632	T	-0.576406	0.14867	T	0.0113774184137583	0.00169	T	0.79652	0.44001	T	0.03290703	0.03406	0.04918513	0.07464	0.03290703	0.03406	0.04918513	0.07463	-4.585	0.31982	T	0.30532263324297004	0.40293	0.065	0.01986	B	.;.	.;.	2.110556	0.26858	17.26	0.87574848574903463	0.17326	0.86747	0.46094	D	AEFGBIJ	0.211899	0.33764	N	-0.353674268639164	0.27136	1.486	-0.132646955503829	0.34084	1.956603	0.0289599853303266	0.13860	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	6.03	3.54	0.39650	2.504000	0.45076	0.993000	0.23206	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0768:0.1388:0.7843	8.640	0.33134	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.011696	0.000000	0.017241	0.000000	0.000000	0.05	1514.43	36	chr14	65615996	.	T	G	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.493;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.44;SOR=0.638	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1526,0,1695	9	0	1	0
chr14	67582079	67582079	C	T	exonic	PLEKHH1	.	nonsynonymous SNV	PLEKHH1:NM_020715:exon24:c.C3295T:p.R1099C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0412310306063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756012004	3.429e-06	4.104e-06	2.728e-06	4.138e-06	1.169e-05	1.01e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.603e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.872	0.61918	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	0.77	0.49642	T	-4.73	0.80085	D	0.723	0.72477	-0.6358	0.63324	T	0.238	0.60583	T	10	0.8013387	0.79531	D	0.041231	0.59811	D	0.290	0.60924	0.561	0.68093	0.554077600107	0.55066	0.6088620104614142	0.60818	0.852769158703	0.68625	0.598196148872	0.52649	T	0.144	0.48040	T	0.108852	0.65232	D	-0.0814181	0.64800	T	0.988797843456268	0.79084	D	0.938306	0.76795	D	0.47935352	0.65861	0.24269311	0.49696	0.47935352	0.65861	0.24269311	0.49695	-6.856	0.52974	T	.	.	0.105	0.19276	B	.	.	5.469102	0.91250	32	0.99934209626419512	0.99535	0.78988	0.39058	D	AEFGBI	0.100647	0.20233	N	0.542567832098223	0.69632	5.384437	0.511956970120717	0.68792	5.269414	0.876101619708026	0.25519	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	4.87	4.87	0.62877	1.155000	0.31311	4.061000	0.41587	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.930000	0.46718	0.0:0.9187:0.0:0.0813	11.638	0.50477	274	0.89249	FERM domain|Band 4.1 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	1056.43	34	chr14	67582079	.	C	T	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.914;DP=390;ExcessHet=0;FS=11.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.56;SOR=0.136	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1068,0,686	9	0	1	0
chr14	74508039	74508039	C	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon25:c.G3709A:p.E1237K	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	872591	Weill-Marchesani_syndrome|Inborn_genetic_diseases|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.475	0.0744098239558	.	.	3.321e-05	9.728e-05	0	0	0	3.022e-05	0	6.085e-05	2.59e-05	4	154602	rs769155905	3.695e-05	3.762e-05	4.357e-05	3.026e-05	0.0002	2.894e-05	2.593e-05	2.828e-05	2.507e-05	0	0	0.0003	0	0	0.0002	3.777e-05	3.312e-05	2.319e-05	4.598e-05	4.596e-05	6.422e-05	2.689e-05	7.235e-05	2.109e-05	1.526e-05	1.972e-05	1.124e-05	7.235e-05	0	0	0	0	0	0	5.879e-05	0	0	0.046	0.40573	D	0.107	0.40426	T	0.989	0.62824	D	0.717	0.54739	P	0.015425	0.28249	N	0.164615	0.991679	0.41446	D	1.2	0.30300	L	-2.95	0.91903	D	-2.13	0.53258	N	0.442	0.48042	0.214	0.86147	D	0.687	0.89195	D	10	0.35173243	0.52017	T	0.07441	0.72034	D	0.475	0.76751	0.583	0.70990	0.822846821746	0.82117	0.4565086907759105	0.45568	0.457133581245	0.45357	0.500999808311	0.38968	T	0.456103	0.79500	T	-0.0637027	0.42327	T	-0.126627	0.61254	T	0.528910338878632	0.33694	D	0.929907	0.74113	D	0.18138279	0.39305	0.17138846	0.39317	0.18138279	0.39305	0.17138846	0.39317	-10.081	0.74395	D	.	.	0.085	0.10208	B	.;.	.;.	5.030268	0.83658	28.1	0.9991508308786764	0.98309	0.97123	0.72824	D	AEFDGBIJ	0.575440	0.57783	D	0.181302807755818	0.50301	3.22148	0.205805526192405	0.50170	3.211842	0.999999932479654	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.527494	0.11647	0	0.711	0.71501	0	.	.	5.41	4.52	0.54797	4.696000	0.61460	5.852000	0.50347	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.805000	0.37950	0.0:0.9289:0.0:0.0711	14.219	0.65353	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	825.43	36	chr14	74508039	.	C	T	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.431;DP=401;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.803;SOR=0.584	GT:AD:DP:GQ:PL	0/1:44,39:83:99:837,0,1018	9	0	1	0
chr14	75764730	75764730	C	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon19:c.C1666G:p.R556G	Cone-rod dystrophy 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	841794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0348284695871	.	.	8.248e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs770811029	1.847e-05	1.847e-05	6.807e-06	3.025e-05	0.0003	1.265e-05	1.084e-05	7.997e-05	6.236e-05	0	0	0	0	0	0.0003	1.169e-05	0	0.0001	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.026	0.63918	D	0.834	0.60733	P	0.438	0.60758	B	0.473440	0.12250	N	0.754917	1	0.81001	D	1.65	0.42232	L	3.58	0.32958	T	-2.53	0.60348	D	0.539	0.58713	-0.9837	0.34140	T	0.127	0.43318	T	10	0.29858518	0.47414	T	0.034828	0.55938	D	0.106	0.30130	0.328	0.31196	0.171388866994	0.16791	0.25798782657078684	0.25712	0.352308218396	0.37068	0.542880892754	0.44852	T	0.203749	0.56231	T	-0.249213	0.14195	T	-0.321454	0.42415	T	0.409095863189939	0.29284	T	0.889111	0.64631	D	0.25382072	0.48407	0.39753157	0.64365	0.25382072	0.48406	0.39753157	0.64365	-2.594	0.45110	T	0.23661305429944016	0.32040	0.381	0.58464	A	.;.;.;.	.;.;.;.	3.721703	0.53189	23.3	0.99825766202352806	0.90852	0.80901	0.40423	D	AEFDGBI	0.241742	0.36331	N	0.27821648190313	0.55046	3.668994	0.286711539582891	0.54763	3.640351	0.0289744459540654	0.13861	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	3.22	0.36041	1.695000	0.37381	3.458000	0.38494	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2891:0.7109:0.0:0.0	13.854	0.63013	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	700.43	33	chr14	75764730	.	C	G	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=395;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.78;SOR=0.57	GT:AD:DP:GQ:PL	0/1:47,29:76:99:712,0,1086	9	0	1	0
chr14	75980812	75980812	T	G	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_001329938:exon1:c.A82C:p.T28P,TGFB3:NM_003239:exon1:c.A82C:p.T28P,TGFB3:NM_001329939:exon2:c.A82C:p.T28P	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	241896	Arrhythmogenic_right_ventricular_dysplasia_1|Rienhoff_syndrome|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.427	0.057687750084	.	0.000199681	0.0001	0	0	0	0.0002	4.495e-05	0	0.0006	9.7e-05	15	154602	rs564013964	4.309e-05	4.309e-05	2.722e-05	5.913e-05	0.0014	3.442e-05	3.129e-05	0.0007	0.0005	0	0	0	5.038e-05	1.872e-05	0.0014	8.093e-06	0.0001	0.0004	2.631e-05	2.626e-05	1.286e-05	4.037e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0.0005	0.0002	0.048	0.47745	D	0.054	0.47097	T	0.978	0.58756	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.999829	0.49512	D	1.735	0.44892	L	-0.14	0.65006	T	-1.27	0.35792	N	0.204	0.28732	-0.4447	0.70575	T	0.317	0.68637	T	10	0.16817605	0.31354	T	0.057688	0.67052	D	0.427	0.73445	.	.	0.819186829257	0.81748	0.4155835036557827	0.41474	1.66393245162	0.89724	0.576532065868	0.49596	T	0.442459	0.78661	T	0.0123334	0.53343	T	0.101906	0.77034	D	0.241325313962933	0.22480	T	0.519248	0.29288	T	0.5239688	0.68486	0.58034986	0.75677	0.5239688	0.68487	0.58034986	0.75678	-5.74	0.44048	T	.	.	0.162	0.35746	B	.;.	.;.	3.408959	0.47284	22.4	0.99011646938320275	0.50377	0.91389	0.53435	D	AEFDGBCI	0.882908	0.81141	D	0.517933877809326	0.68151	5.177859	0.504873547102787	0.68318	5.203522	0.999999985237554	0.74766	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.65	4.65	0.57626	5.069000	0.64199	6.224000	0.55156	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.376	0.60185	883	0.28872	TGF-beta, propeptide;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	913.43	37	chr14	75980812	.	T	G	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=431;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=1.78;SOR=0.836	GT:AD:DP:GQ:PL	0/1:74,39:113:99:925,0,1813	9	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	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	0/1:111,56:167:99:158,0,1762	3	0	7	0
chr14	88469073	88469073	T	A	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon18:c.A3239T:p.Y1080F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.0147054395236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03013	T	0.523	0.19304	T	0.985	0.61118	D	0.848	0.60574	P	0.000000	0.84330	D	0.000000	0.999847	0.49770	D	-2.3	0.00097	N	3.0	0.09167	T	-0.88	0.38540	N	0.529	0.62781	-0.9593	0.39311	T	0.020	0.08266	T	10	0.2675118	0.44264	T	0.014705	0.35003	T	0.306	0.62729	0.634	0.77032	0.454054078574	0.45028	.	.	0.967044701673	0.73226	0.830655813217	0.86662	D	0.088294	0.38126	T	-0.0898529	0.38101	T	-0.366844	0.37258	T	0.711248159408569	0.41261	D	0.908309	0.83814	D	0.2557414	0.48610	0.12113398	0.29228	0.2557414	0.48610	0.12113398	0.29228	-6.701	0.51818	T	.	.	0.126	0.35951	B	.;.;.	.;.;.	4.116285	0.61489	24.3	0.78995596577612581	0.12544	0.99099	0.91210	D	AEFDBI	0.730652	0.67797	D	0.0609757330364375	0.44648	2.735089	0.180668777996559	0.48789	3.090127	0.999999999999991	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.081000	0.70951	6.064000	0.53197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.0:0.0:1.0	16.322	0.82788	651	0.62880	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1410.43	35	chr14	88469073	.	T	A	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.43;DP=391;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=0.445;SOR=0.892	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1422,0,735	9	0	1	0
chr14	91339397	91339397	C	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon8:c.G690T:p.K230N	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	2876015	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.051	0.0242770888536	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs774853335	9.513e-05	9.645e-05	3.949e-05	0.0002	0.0015	8.205e-05	7.72e-05	0.0013	0.0012	0	0	0	0	0	0.0005	8.996e-07	9.94e-05	0.0015	3.287e-05	3.284e-05	1.285e-05	5.384e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.193	0.20912	T	0.177	0.29740	T	0.336	0.33356	B	0.148	0.34065	B	0.185114	0.16997	U	0.494203	1	0.08975	N	1.2	0.30300	L	0.92	0.44461	T	-2.15	0.48687	N	0.413	0.45331	-1.0749	0.08369	T	0.066	0.27121	T	10	0.024396598	0.00669	T	0.024277	0.47266	T	0.051	0.14325	0.435	0.48664	0.442261297928	0.43845	0.17738444704325287	0.17657	0.472557916991	0.46495	0.413896203041	0.26995	T	0.031616	0.22120	T	-0.622434	0.00106	T	-0.691487	0.06303	T	0.0528517668626481	0.05994	T	0.256674	0.04023	T	0.09529641	0.22423	0.07720144	0.17176	0.09713975	0.22892	0.10343219	0.24817	-3.345	0.14325	T	.	.	0.230	0.46320	B	.	.	2.278986	0.29141	18.03	0.97894994287727344	0.36697	0.49493	0.28446	N	AEFDBCI	0.209093	0.33511	N	-0.460351812098027	0.23390	1.255761	-0.432914896617475	0.24037	1.314102	0.999571758709782	0.40495	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	3.26	0.36471	1.378000	0.33935	1.618000	0.27672	0.599000	0.40250	0.002000	0.15269	0.975000	0.29991	0.004000	0.06068	0.0:0.6976:0.1363:0.1661	8.099	0.30007	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.003788	0.05	1972.43	33	chr14	91339397	.	C	A	1972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.782;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.456;SOR=0.681	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1984,0,1733	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	0/1:84,50:134:99:.:.:367,0,1399:.	0	0	10	0
chr14	95203143	95203143	G	T	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon9:c.C2206A:p.L736M	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.170819074721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.136	0.34009	T	0.998	0.73220	D	0.936	0.67150	D	0.005738	0.32555	N	0.000000	0.916325	0.27395	N	1.83	0.48079	L	-3.65	0.95179	D	-0.74	0.20791	N	0.376	0.41754	0.561	0.91375	D	0.827	0.94203	D	10	0.43437508	0.57697	T	0.170819	0.84827	D	0.462	0.75889	0.359	0.36222	0.890315468549	0.88923	0.278990113856985	0.27812	0.522592563707	0.49982	0.477104455233	0.35658	T	0.110141	0.42460	T	0.16414	0.70584	D	-0.00200095	0.70206	D	0.731449007987976	0.42285	D	0.862414	0.55771	D	0.10453786	0.24713	0.07230506	0.15584	0.10453786	0.24713	0.07230506	0.15583	-5.156	0.38491	T	.	.	0.284	0.51643	B	.	.	2.925003	0.38838	20.8	0.98639571568777651	0.44028	0.68078	0.33667	D	AEFBI	0.236675	0.35908	N	-0.155912050611275	0.34983	2.003717	-0.259672704568198	0.29440	1.649373	0.989851939321493	0.31956	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.16	0.988	0.18914	1.453000	0.34778	2.551000	0.33264	-0.681000	0.04224	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.2647:0.0:0.5024:0.2329	4.110	0.09526	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	.	.	.	.	.	.	.	.	0.05	964.43	38	chr14	95203143	.	G	T	964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.866;DP=389;ExcessHet=0;FS=4.766;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.836;SOR=0.315	GT:AD:DP:GQ:PL	0/1:33,37:70:99:976,0,909	9	0	1	0
chr14	100881437	100881437	G	A	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.C3352T:p.P1118S	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0223086008605	.	.	0.0008	0	0	0	0	0.0003	0	0.0018	0.0001552	24	154602	rs371727033	0.0003	0.0003	0.0003	0.0004	0.0067	0.0003	0.0003	0.0050	0.0044	0.0002	0.0004	0.0001	2.798e-05	0	0.0067	0.0002	0.0006	0.0022	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	2.405e-05	0	0.0004	0.0003	0	0	0.0034	0.0002	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.987634	0.24496	N	1.7	0.43825	L	1.68	0.27184	T	-5.14	0.83292	D	0.248	0.28028	-1.0784	0.07661	T	0.092	0.35228	T	9	0.03666666	0.01978	T	0.022309	0.45185	T	0.069	0.20116	.	.	0.542764462858	0.53929	0.7246781867612822	0.72411	0.760933052735	0.64261	0.389236688614	0.23563	T	0.536222	0.84039	D	-0.461609	0.00960	T	-0.449076	0.27799	T	0.180993929591221	0.19297	T	0.489851	0.15048	T	0.29284504	0.52256	0.44669738	0.67775	0.29284504	0.52256	0.44669738	0.67775	-3.828	0.21223	T	.	.	0.116	0.26607	B	.;.	.;.	2.832361	0.37348	20.5	0.99802878321992239	0.88728	0.90123	0.51056	D	AEFDBI	.	.	.	0.217158434969505	0.52031	3.379929	0.112501460012062	0.45187	2.786348	0.995388041244918	0.34098	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.11	3.11	0.34883	3.061000	0.49656	3.628000	0.39306	0.618000	0.50648	0.994000	0.38300	0.989000	0.31174	0.515000	0.29359	0.0:0.0:1.0:0.0	9.951	0.40806	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	0.005365	0.000000	0.011765	0.013514	0.000000	0.027778	0.000000	0.000000	0.05	1216.43	37	chr14	100881437	.	G	A	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.596;DP=431;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.869;SOR=0.613	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1228,0,1281	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	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	0/1:60,11:71:99:.:.:315,0,2435:.	6	0	4	0
chr15	20535676	20535676	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C758T:p.A253V	.	903	606	10	3	0	16	0.0130293	.	.	.	2331833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00135336302404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302792346	0.0073	0.0097	0.0064	0.0081	0.0242	0.0071	0.0070	0.0230	0.0226	0.0017	0.0031	0.0423	0.0021	6.566e-05	0.0099	0.0050	0.0081	0.0242	0.0052	0.0045	0.0051	0.0054	0.0223	0.0049	0.0047	0.0178	0.0162	0.0012	0.0260	0.0062	0.0504	0.0027	0	0.0055	0.0043	0.0071	0.0223	.	.	.	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.025	0.00485	-0.9685	0.37510	T	0.013	0.05129	T	7	0.06213656	0.07898	T	0.001353	0.01936	T	.	.	.	.	0.0297737177859	0.01360	0.002610010390796344	0.00242	.	.	0.495142906904	0.38151	T	0.012942	0.11287	T	-0.388247	0.02761	T	-0.795466	0.02018	T	0.00822341605707464	0.00098	T	0.440756	0.12177	T	0.034567785	0.03903	0.09967183	0.23806	0.034567785	0.03903	0.09967183	0.23806	-4.904	0.35780	T	.	.	0.142	0.31253	B	.	.	-0.558998	0.01687	0.122	0.39597292329315309	0.02742	0.00189	0.01098	N	AEFI	0.017556	0.00468	N	-1.55047642574625	0.01532	0.06689154	-1.68353583424012	0.01212	0.05457186	5.21244997230675E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-5.508000	0.00140	-0.222000	0.10754	-3.581000	0.00074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05556	259.62	12	chr15	20535676	.	G	A	259.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.03;DP=90;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.056;MQ=26.15;MQRankSum=-0.784;QD=10.82;ReadPosRankSum=0.203;SOR=0.412	GT:AD:DP:GQ:PL	0/1:11,13:24:99:270,0,243	8	0	1	1
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	0/1:24,41:65:99:949,0,512	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	0/1:61,65:126:99:1638,0,1432	7	0	3	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	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|1:55,63:118:99:0|1:21652283_G_C:2397,0,2079:21652283	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|1:55,61:116:99:0|1:21652283_G_C:2353,0,2085:21652283	7	0	3	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	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	1/1:0,99:99:99:3233,297,0	0	9	1	0
chr15	22607710	22607710	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.T1729C:p.C577R	.	444	1070	8	0	0	8	0.00372439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000278837205708	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs575226800	0.0008	0.0017	0.0008	0.0008	0.0036	0.0007	0.0007	0.0030	0.0028	0.0036	0.0010	0.0004	0.0001	2.707e-05	0.0005	0.0007	0.0010	0.0008	0.0015	0.0022	0.0015	0.0016	0.0032	0.0014	0.0013	0.0028	0.0026	0.0032	0	0.0017	0	0.0002	0.0001	0	0.0010	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	44.43	31	chr15	22607710	.	A	G	44.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.854;DP=225;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=29.63;MQRankSum=0.787;QD=1.53;ReadPosRankSum=0.664;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,4:29:56:56,0,692	9	0	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	875.01	40	chr15	23361381	.	G	*	875.01	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.008;DP=747;ExcessHet=2.8389;FS=0.56;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=56.36;MQRankSum=-0.579;QD=1.81;ReadPosRankSum=2.14;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,23:91:99:.:.:723,0,2702:.	6	0	4	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	812.66	40	chr15	23361385	.	C	*	812.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.366;DP=726;ExcessHet=2.8389;FS=2.674;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.222;MQ=56.82;MQRankSum=0.504;QD=1.8;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,23:91:99:.:.:723,0,2702:.	5	0	4	1
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	1/0:0,70:144:99:.:.:5159,2435,2979:.	0	0	10	0
chr15	27983407	27983407	C	T	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon13:c.G1369A:p.A457T,OCA2:NM_000275:exon14:c.G1441A:p.A481T	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	YES	15993	not_specified|not_provided|Tyrosinase-positive_oculocutaneous_albinism|OCA2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.720	.	0.0013	0.00798722	0.0078	9.61e-05	0.0016	0.0303	0.0473	0.0047	0.0176	0.0009	0.0067528	1044	154602	rs74653330	0.0047	0.0047	0.0048	0.0046	0.0527	0.0046	0.0046	0.0508	0.0501	0.0002	0.0027	0.0177	0.0527	0.0458	0.0021	0.0012	0.0051	0.0009	0.0067	0.0067	0.0044	0.0090	0.0342	0.0063	0.0062	0.0300	0.0285	0.0003	0	0.0027	0.0173	0.0342	0.0545	0	0.0019	0.0052	0.0012	0.192	0.20988	T	0.436	0.13634	T	0.946	0.53363	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	A	2.755	0.80505	M	-1.67	0.82806	D	-2.12	0.48184	N	0.888	0.95608	-0.1744	0.78321	T	0.293	0.66508	T	9	0.014360964	0.00302	T	.	.	.	0.720	0.90101	.	.	0.918188717046	0.91736	0.9407718962271029	0.94058	0.4607494585	0.45631	0.729123711586	0.71378	T	0.574765	0.85979	D	-0.0541888	0.43808	T	0.211917	0.83764	D	0.0675672815574518	0.08305	T	0.990401	0.97014	D	0.2687473	0.49947	0.29853162	0.55887	0.28667596	0.51682	0.27513763	0.53447	-10.12	0.77077	D	0.5161700043131197	0.58914	0.208	0.52961	B	.;.	.;.	4.957557	0.81941	27.7	0.99912961034017145	0.98167	0.95027	0.63172	D	AEFDGBI	0.780824	0.71260	D	0.494835249542985	0.66786	4.99557	0.518449324302373	0.69234	5.331151	0.999999902065305	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	5.396000	0.66042	7.604000	0.61663	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.427	0.87420	958	0.09170	.;Citrate transporter-like 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	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	1251.43	33	chr15	27983407	.	C	T	1251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=418;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.721;SOR=0.665	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1263,0,1182	9	0	1	0
chr15	28706116	28706116	C	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon11:c.G874T:p.A292S	.	531	987	4	0	0	4	0.00202224	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00580194803917	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1464642995	0.0014	0.0009	0.0015	0.0014	0.0159	0.0014	0.0013	0.0148	0.0143	7.411e-05	5.053e-05	0	0.0159	3.278e-05	0.0005	0.0003	0.0028	0.0002	0.0007	0.0008	0.0006	0.0009	0.0171	0.0006	0.0006	0.0140	0.0129	7.314e-05	0	0.0003	0	0.0171	0	0	0.0002	0.0035	0.0002	0.029	0.45756	D	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	-2.6	0.89888	D	-2.0	0.46146	N	0.055	0.02658	-1.0102	0.26854	T	0.100	0.37213	T	6	0.0059670806	0.00134	T	0.005802	0.15072	T	.	.	.	.	0.110392049598	0.10638	0.22245081833408326	0.22160	2.52078213034	0.97734	.	.	.	0.050456	0.28601	T	-0.307715	0.07951	T	-0.379464	0.35787	T	0.102356778292837	0.12614	T	0.741226	0.36032	T	0.08473018	0.19623	0.087137155	0.20234	0.08473018	0.19623	0.087137155	0.20234	-5.777	0.44373	T	.	.	0.135	0.29255	B	.	.	3.403269	0.47175	22.4	0.98185820377582489	0.38984	0.44950	0.27431	N	AEFI	0.112328	0.22207	N	-0.0246702337209107	0.40739	2.424657	-0.326665104410343	0.27240	1.510171	4.95178924050169E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.798	0.798	0.17803	0.097000	0.15007	3.906000	0.40380	0.151000	0.17695	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.0:1.0:0.0:0.0	4.952	0.13370	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	351.43	33	chr15	28706116	.	C	A	351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.614;DP=253;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=23.79;MQRankSum=0.632;QD=9.5;ReadPosRankSum=-0.625;SOR=0.704	GT:AD:DP:GQ:PL	0/1:20,17:37:99:363,0,433	9	0	1	0
chr15	28842754	28842754	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1350A:p.M450I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288774704	0	1.438e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.893e-06	0.0002	0	1.414e-05	1.51e-05	0	0	.	.	0	0	0	0	0	0	0	1.51e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073978126	0.11250	T	.	.	.	.	.	.	.	.	.	0.025714335919542787	0.02522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49935	0.15589	T	0.26085496	0.49143	0.41460165	0.65598	0.26085496	0.49142	0.41460165	0.65599	-6.041	0.46621	T	.	.	0.320	0.54499	B	.	.	0.346122	0.07195	3.785	0.46182978349490345	0.03680	0.00699	0.02973	N	AEFCI	.	.	.	.	.	.	.	.	.	2.02772666150393E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-1.139000	0.03324	-6.627000	0.01347	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	37.93	4	chr15	28842754	.	C	T	37.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.253;DP=50;ExcessHet=0;FS=0;InbreedingCoeff=-0.0897;MLEAC=1;MLEAF=0.05;MQ=54.19;MQRankSum=-1.645;QD=7.59;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:49:0|1:28842754_C_T:49,0,85:28842754	9	0	1	0
chr15	28842774	28842774	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C1330T:p.R444W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1332133628	1.495e-05	4.521e-05	7.121e-06	2.36e-05	4.882e-05	8.85e-06	7.16e-06	7.93e-06	6.11e-06	0	0	0	3.926e-05	0	0	1.421e-05	2.36e-05	4.882e-05	0.0002	0.0005	0.0002	0.0001	0.0010	9.513e-05	7.452e-05	0.0002	7.505e-05	0.0002	0	0.0002	0	0	0.0005	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05602908	0.06217	T	.	.	.	.	.	.	.	.	.	0.04232661021332076	0.04177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630337	0.24523	T	0.25865686	0.48916	0.18417773	0.41454	0.25865686	0.48916	0.18417773	0.41453	-6.057	0.46753	T	.	.	0.126	0.26762	B	.	.	0.617512	0.09862	6.621	0.57542920807751563	0.05792	0.00376	0.01908	N	AEFDCI	.	.	.	.	.	.	.	.	.	3.85059366971751E-5	0.03775	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-4.195000	0.00314	-11.787000	0.00575	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.85	4	chr15	28842774	.	G	A	39.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.253;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=0.0504;MLEAC=1;MLEAF=0.071;MQ=54.19;MQRankSum=-1.645;QD=7.97;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:49:0|1:28842754_C_T:49,0,100:28842754	6	0	1	3
chr15	29054732	29054732	C	T	exonic	APBA2	.	nonsynonymous SNV	APBA2:NM_001130414:exon3:c.C848T:p.S283L,APBA2:NM_001353791:exon3:c.C848T:p.S283L,APBA2:NM_001353793:exon3:c.C848T:p.S283L,APBA2:NM_001353794:exon3:c.C848T:p.S283L,APBA2:NM_005503:exon3:c.C848T:p.S283L,APBA2:NM_001353788:exon4:c.C848T:p.S283L,APBA2:NM_001353789:exon4:c.C848T:p.S283L,APBA2:NM_001353790:exon4:c.C848T:p.S283L,APBA2:NM_001353792:exon4:c.C848T:p.S283L,APBA2:NM_001353795:exon4:c.C848T:p.S283L,APBA2:NM_001379685:exon5:c.C848T:p.S283L	.	398	1122	2	0	0	2	0.000890472	.	.	.	3462402	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0938796942508	.	.	4.31e-05	0	8.898e-05	0.0002	0	1.57e-05	0	6.179e-05	3.23e-05	5	154602	rs199985120	1.712e-05	1.779e-05	2.045e-05	1.377e-05	0.0003	1.175e-05	9.93e-06	0.0001	0.0001	0	0	0	0.0003	1.93e-05	0	5.396e-06	9.94e-05	2.319e-05	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0004	0.001	0.78490	D	0.29	0.21011	T	1.0	0.90584	D	0.943	0.67921	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.255	0.64187	M	0.19	0.60236	T	-1.13	0.29114	N	0.722	0.92200	-0.3161	0.74531	T	0.378	0.73527	T	10	0.50790906	0.61926	D	0.09388	0.76152	D	0.222	0.51872	.	.	0.825040050735	0.82338	0.43017336382827925	0.42934	0.456294190807	0.45285	0.610453784466	0.54380	T	0.287754	0.66054	T	-0.0163387	0.49373	T	0.039078	0.72867	D	0.275478005409241	0.23981	T	0.963754	0.86559	D	0.3532879	0.57321	0.288726	0.54890	0.3532879	0.57322	0.288726	0.54889	-4.527	0.31240	T	.	.	0.116	0.33550	B	.;.;.;.;.	.;.;.;.;.	3.416041	0.47413	22.5	0.99925839538126981	0.99042	0.98346	0.81852	D	AEFBI	0.704090	0.65992	D	0.680841790562385	0.78376	6.859339	0.641758512173163	0.77998	6.788593	0.999999989366445	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	5.544000	0.66938	3.241000	0.36966	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.570000	0.30651	0.0:1.0:0.0:0.0	17.228	0.86858	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2034.43	33	chr15	29054732	.	C	T	2034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=465;ExcessHet=0;FS=4.963;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.273;SOR=1.027	GT:AD:DP:GQ:PL	0/1:63,83:146:99:2046,0,1511	9	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	282.94	81	chr15	33066576	.	A	G	282.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.393;DP=793;ExcessHet=0.7463;FS=134.716;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.803;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:81:0|1:33066576_A_G:81,0,3391:33066576	1	0	3	6
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	498.01	74	chr15	33066577	.	C	G	498.01	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-1.258;DP=776;ExcessHet=0.7463;FS=182.948;InbreedingCoeff=-0.4302;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.966;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:81:0|1:33066576_A_G:81,0,3391:33066576	1	0	3	6
chr15	40367236	40367236	A	T	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.A1124T:p.Y375F	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.0138015359055	0.0038	0.000599042	0.0028	0.0007	0.0016	0	0.0011	0.0041	0.0022	0.0017	0.0029819	461	154602	rs140120816	0.0047	0.0047	0.0047	0.0047	0.0057	0.0046	0.0046	0.0055	0.0055	0.0007	0.0015	3.826e-05	0	0.0007	0.0033	0.0057	0.0038	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0028	0.0027	0.0050	0.0048	0.0010	0.0132	0.0012	0	0.0002	0.0004	0.0102	0.0054	0.0043	0.0010	0.126	0.27194	T	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	2.79	0.81396	M	2.06	0.20523	T	-3.44	0.67477	D	0.524	0.55366	-1.0718	0.09022	T	0.081	0.31913	T	10	0.010289907	0.00230	T	0.013802	0.33474	T	0.374	0.69273	.	.	0.40318662893	0.39936	0.6264669422324108	0.62579	1.13346350566	0.78696	0.610062718391	0.54325	T	0.406913	0.76268	T	-0.374259	0.03384	T	-0.309421	0.43720	T	0.0292433844621151	0.01874	T	0.835616	0.50622	T	0.35556233	0.57497	0.20925325	0.45262	0.35556233	0.57497	0.20925325	0.45261	-7.58	0.58171	D	.	.	0.192	0.41171	B	.	.	3.953223	0.57923	23.9	0.98327876198374875	0.40309	0.96947	0.71814	D	AEFGBCI	0.910034	0.86743	D	0.585146463874341	0.72247	5.775778	0.545486328544865	0.71082	5.601267	0.999999999999702	0.74766	0.582742	0.33608	0	0.610034	0.51514	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	8.723000	0.91189	11.292000	0.92056	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.494000	0.28882	1.0:0.0:0.0:0.0	15.048	0.71509	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1511.43	34	chr15	40367236	.	A	T	1511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.25;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.887;SOR=0.665	GT:AD:DP:GQ:PL	0/1:78,54:132:99:1523,0,1896	9	0	1	0
chr15	42147155	42147155	C	A	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon13:c.G1388T:p.G463V	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0145425674118	.	.	8.327e-06	0	0	0	0	1.515e-05	0	0	1.29e-05	2	154602	rs375956650	1.233e-05	1.437e-05	6.814e-06	1.789e-05	0.0005	7.7e-06	6.36e-06	0.0001	7.697e-05	0	0	0	0	0	0.0005	1.169e-05	3.313e-05	0	6.57e-06	6.562e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.997	0.86255	D	0.000104	0.50451	D	0.082401	1	0.81001	D	3.87	0.95912	H	.	.	.	.	.	.	0.906	0.90704	-0.9339	0.43560	T	0.111	0.39864	T	10	0.97825557	0.97694	D	0.014543	0.34724	T	0.361	0.68141	0.878	0.96734	0.713728962764	0.71122	0.8565723763018895	0.85620	.	.	0.437563478947	0.30244	T	0.196386	0.55276	T	0.218989	0.75679	D	0.0767863	0.75362	D	0.980145335197449	0.73202	D	0.90031	0.65351	D	0.76912725	0.81996	0.666433	0.80440	0.76912725	0.81997	0.666433	0.80441	-12.302	0.86291	D	.	.	0.601	0.68921	P	.	.	3.622086	0.51264	23.1	0.99654598391592752	0.77505	0.92303	0.55401	D	AEFDBI	0.537188	0.55509	D	0.326023380282053	0.57488	3.916282	0.192157656119835	0.49416	3.14508	0.999657012450967	0.41424	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.11	3.1	0.34780	3.507000	0.53128	2.541000	0.33216	-0.187000	0.09635	0.996000	0.39380	1.000000	0.68203	0.182000	0.21359	0.0:0.7893:0.1354:0.0753	10.278	0.42701	243	0.90483	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1212.43	40	chr15	42147155	.	C	A	1212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=451;ExcessHet=0;FS=1.401;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.243;SOR=0.759	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1224,0,1878	9	0	1	0
chr15	42528287	42528287	G	T	exonic	SNAP23	.	nonsynonymous SNV	SNAP23:NM_003825:exon6:c.G292T:p.A98S	.	436	1083	2	1	0	4	0.00184332	.	.	.	2380339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00161923234541	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs756726088	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	1.349e-05	6.623e-05	1.159e-05	1.314e-05	1.313e-05	2.571e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.576	0.08335	T	0.7	0.09425	T	0.005	0.12996	B	0.009	0.14300	B	0.011223	0.29610	N	0.385948	1	0.81001	D	1.875	0.49914	L	.	.	.	0.06	0.08187	N	0.099	0.08088	-1.0516	0.13954	T	0.116	0.41008	T	9	0.10402143	0.19156	T	0.001619	0.02625	T	0.030	0.07022	0.36	0.36385	0.346148929819	0.34228	0.2262435677907953	0.22539	0.260338649392	0.28604	0.437899380922	0.30291	T	0.015204	0.51207	T	-0.219024	0.18126	T	-0.444732	0.28280	T	0.0788072049617767	0.09833	T	0.677432	0.28627	T	0.023712277	0.01135	0.030845834	0.01592	0.023712277	0.01135	0.030845834	0.01592	-3.656	0.18671	T	.	.	0.081	0.11366	B	.;.;.;.	.;.;.;.	2.269737	0.29014	17.98	0.92240614777962193	0.21618	0.86256	0.45501	D	AEFBI	0.269301	0.38561	N	-0.347120504837264	0.27378	1.501622	-0.181678069555036	0.32209	1.830287	0.932161491579934	0.27077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.83	3.52	0.39415	1.155000	0.31311	5.094000	0.47379	0.656000	0.54149	0.998000	0.41325	1.000000	0.68203	0.700000	0.34141	0.2043:0.0:0.6468:0.1489	5.289	0.15028	92	0.96160	SNAP-25;SNAP-25;SNAP-25;SNAP-25	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	722.43	62	chr15	42528287	.	G	T	722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.016;DP=496;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.777;SOR=0.583	GT:AD:DP:GQ:PL	0/1:44,33:77:99:734,0,1125	9	0	1	0
chr15	42685420	42685437	TCCAACCCCATTGTGAGC	-	exonic	STARD9	.	nonframeshift deletion	STARD9:NM_020759:exon23:c.3842_3859del:p.L1299_E1304del	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0033	0	0	0.0003	0	0.0005	3.84e-05	1	26028	rs762481813	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	3.176e-05	0.0006	3.978e-05	8.404e-05	0.0001	0	0.0002	0.0004	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0005	4.853e-05	0	0.0003	0	0.0008	0	0.0034	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4753.39	289	chr15	42685419	.	TTCCAACCCCATTGTGAGC	T	4753.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=2437;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=2.47;SOR=0.636	GT:AD:DP:GQ:PL	0/1:233,138:371:99:4765,0,8943	9	0	1	0
chr15	50749712	50749712	C	T	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon2:c.G101A:p.G34E	.	431	1068	22	1	0	24	0.0111111	.	.	.	1157483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	0.00587756568224	0.0011	0.00259585	0.0019	9.612e-05	0.0015	0	0.0002	0.0016	0.0011	0.0064	0.0017788	275	154602	rs145832874	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	5.977e-05	0.0011	0.0093	0	0.0003	0.0054	0.0009	0.0019	0.0067	0.0015	0.0015	0.0015	0.0015	0.0093	0.0013	0.0013	0.0072	0.0064	0.0003	0	0.0025	0.0104	0	0	0.0034	0.0013	0.0014	0.0093	0.06	0.37326	T	0.116	0.36497	T	0.02	0.18235	B	0.015	0.17295	B	0.001238	0.39743	N	0.291695	0.522116	0.31560	N	1.095	0.27400	L	2.82	0.10871	T	-1.52	0.36980	N	0.39	0.43126	-1.0953	0.04709	T	0.016	0.06377	T	10	0.005771637	0.00129	T	0.005878	0.15310	T	0.028	0.06331	.	.	0.180583059064	0.17676	0.6065184971295519	0.60582	0.177546895011	0.19976	0.559614479542	0.47213	T	0.008912	0.08144	T	-0.574326	0.00209	T	-0.594727	0.13259	T	0.0132353450448309	0.00235	T	0.859414	0.55137	D	0.0666134	0.14349	0.11202055	0.27026	0.0666134	0.14349	0.11202055	0.27025	-3.658	0.18700	T	.	.	0.319	0.54427	B	.	.	2.381070	0.30564	18.48	0.98042833001324559	0.37805	0.76154	0.37329	D	AEFDBIJ	0.147110	0.27071	N	-0.181220228882164	0.33917	1.929786	-0.0160047478032386	0.38992	2.305253	0.906822597963035	0.26242	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	3.8	0.42887	1.194000	0.31783	2.021000	0.30209	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.7246:0.1402:0.1353	8.270	0.30998	321	0.86949	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.05	1546.43	36	chr15	50749712	.	C	T	1546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.299;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.074;SOR=0.761	GT:AD:DP:GQ:PL	0/1:29,60:89:99:1558,0,618	9	0	1	0
chr15	52064815	52064815	T	C	exonic	MAPK6	.	nonsynonymous SNV	MAPK6:NM_002748:exon6:c.T1981C:p.F661L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00999997033343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.090906	0.998691	0.45291	D	0.255	0.09829	N	-0.54	0.70950	T	-0.43	0.14390	N	0.17	0.18103	-0.9663	0.37954	T	0.170	0.51117	T	10	0.09832692	0.17770	T	0.01	0.26012	T	0.099	0.28413	0.252	0.19067	0.292942362817	0.28906	0.5084305033591271	0.50765	0.0261044709138	0.02667	0.520622014999	0.41714	T	0.22831	0.59382	T	-0.132265	0.31130	T	-0.427766	0.30188	T	0.246853113174438	0.22732	T	0.728227	0.34274	T	0.07236734	0.16091	0.07451719	0.16310	0.07236734	0.16091	0.07451719	0.16310	-2.724	0.07506	T	.	.	0.405	0.59865	A	.	.	2.761204	0.36222	20.2	0.96632512907196877	0.30520	0.92191	0.55148	D	AEFBI	0.440909	0.49928	N	-0.309773277962737	0.28776	1.590056	-0.127551966194358	0.34283	1.970367	0.99991020320938	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.95	0.44952	3.720000	0.54661	3.870000	0.40183	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.1682:0.0:0.8318	7.557	0.26998	266	0.89551	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	96.43	41	chr15	52064815	.	T	C	96.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.391;DP=533;ExcessHet=0;FS=137.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=1.05;SOR=7.053	GT:AD:DP:GQ:PL	0/1:71,19:90:99:108,0,1638	9	0	1	0
chr15	58679228	58679228	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T380C:p.F127S,ADAM10:NM_001320570:exon4:c.T380C:p.F127S	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0468036735907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10180	T	0.516	0.10607	T	0.007	0.14184	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	3.31	0.06291	T	-0.78	0.21644	N	0.935	0.94077	-0.9607	0.39050	T	0.017	0.07092	T	10	0.85673785	0.84874	D	0.046804	0.62629	D	0.330	0.65226	0.818	0.93195	0.750870991732	0.74862	0.7810347544278903	0.78054	0.553159282221	0.52090	0.677485346794	0.63908	T	0.101358	0.40805	T	0.194837	0.73410	D	0.042093	0.73064	D	0.715053021907806	0.41450	D	0.922708	0.71908	D	0.5953555	0.72440	0.5304736	0.72871	0.5953555	0.72442	0.5304736	0.72871	-8.731	0.65949	D	0.1890421041001883	0.24712	0.650	0.70937	P	.	.	4.221973	0.63864	24.6	0.99776152517939554	0.86346	0.98859	0.87803	D	AEFGBI	0.936427	0.93272	D	0.0111440760784277	0.42361	2.550938	0.230508985727639	0.51549	3.336423	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	85.43	33	chr15	58679228	.	A	G	85.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.99;DP=373;ExcessHet=0;FS=45.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.35;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,12:64:97:0|1:58679228_A_G:97,0,1859:58679228	9	0	1	0
chr15	58679229	58679229	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T379C:p.F127L,ADAM10:NM_001320570:exon4:c.T379C:p.F127L	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0308426739969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.04713	T	0.786	0.04247	T	0.001	0.07471	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	3.48	0.05130	T	-1.05	0.27463	N	0.832	0.82761	-1.0492	0.14621	T	0.025	0.10553	T	10	0.5821212	0.65908	D	0.030843	0.53068	D	0.271	0.58633	0.435	0.48664	0.709354412968	0.70681	0.7320703265798069	0.73152	0.355086823408	0.37273	0.697846770287	0.66833	T	0.132989	0.46340	T	0.168356	0.70972	D	0.00405502	0.70598	D	0.940934717655182	0.61372	D	0.956104	0.83363	D	0.58675337	0.71975	0.49563286	0.70832	0.58675337	0.71976	0.49563286	0.70832	-7.085	0.54652	T	0.3824464867043131	0.47668	0.905	0.83091	P	.	.	4.067430	0.60402	24.2	0.99704682104758291	0.80867	0.98859	0.87803	D	AEFGBI	0.933045	0.92432	D	0.0815813711254063	0.45603	2.814187	0.263518944222337	0.53424	3.511277	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	85.43	33	chr15	58679229	.	A	G	85.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.342;DP=374;ExcessHet=0;FS=45.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.32;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,12:64:97:0|1:58679228_A_G:97,0,1859:58679228	9	0	1	0
chr15	63663037	63663037	C	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon44:c.G8848A:p.D2950N	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0042069741562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.295	0.20680	T	0.2	0.29645	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.75	0.26152	T	-0.79	0.21860	N	0.342	0.38335	-1.0957	0.04653	T	0.078	0.30982	T	10	0.15499854	0.29224	T	0.004207	0.10153	T	0.117	0.32689	0.224	0.14813	0.0934897674506	0.08844	0.8564759377475429	0.85610	1.06899569482	0.76745	0.836723029613	0.87594	D	0.116465	0.43584	T	-0.222763	0.17618	T	-0.55776	0.16587	T	0.882360637187958	0.53246	D	0.962254	0.85785	D	0.2077112	0.42985	0.1881002	0.42081	0.2077112	0.42984	0.1881002	0.42080	-4.35	0.28872	T	.	.	0.404	0.59788	A	.	.	4.529238	0.71081	25.6	0.99917986830066463	0.98518	0.98845	0.87614	D	AEFBI	0.852492	0.76940	D	0.326699993145109	0.57522	3.91989	0.495299746844576	0.67678	5.116288	0.999999999999982	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.902000	0.86082	7.728000	0.67649	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.317	0.98658	730	0.54327	.	.	.	.	.	.	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	1723.43	34	chr15	63663037	.	C	T	1723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.805;DP=437;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-1.275;SOR=0.769	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1735,0,1470	9	0	1	0
chr15	65625539	65625539	A	G	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.A1459G:p.K487E,SLC24A1:NM_001301032:exon1:c.A1459G:p.K487E,SLC24A1:NM_004727:exon2:c.A1459G:p.K487E,SLC24A1:NM_001301033:exon4:c.A1459G:p.K487E	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1011567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.441	0.0671492472665	.	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs745977526	3.421e-06	3.42e-06	5.445e-06	1.375e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.34800	T	0.005	0.76473	D	0.989	0.90584	D	0.98	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.07	0.56829	M	-0.02	0.62918	T	-3.84	0.72240	D	0.791	0.81162	-0.0796	0.80562	T	0.448	0.78348	T	10	0.6029446	0.67015	D	0.067149	0.70084	D	0.441	0.74447	0.261	0.20473	0.874030273633	0.87280	0.7647063837806078	0.76419	0.876422331603	0.69590	0.733593821526	0.72031	T	0.091415	0.74393	T	0.222876	0.76047	D	0.0823698	0.75737	D	0.990809440612793	0.81037	D	0.962504	0.86020	D	0.62241673	0.73893	0.54210067	0.73535	0.62241673	0.73894	0.54210067	0.73535	-8.498	0.64904	D	.	.	0.538	0.70641	A	.;.;.;.;.;.	.;.;.;.;.;.	4.372934	0.67337	25.1	0.99816912920290091	0.90061	0.99391	0.95423	D	AEFBI	0.859937	0.77771	D	0.817721078587391	0.87202	9.136921	0.799048345361949	0.89726	10.09575	0.9999999997764	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.86	5.86	0.93936	7.304000	0.78201	11.283000	0.91806	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.415	0.74686	619	0.66147	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;.;Sodium/calcium exchanger membrane region;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2246.43	34	chr15	65625539	.	A	G	2246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.289;DP=554;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.042;SOR=0.592	GT:AD:DP:GQ:PL	0/1:110,98:208:99:2258,0,2902	9	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	266.46	90	chr15	66326260	.	C	G	266.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.856;DP=743;ExcessHet=0.7463;FS=266.576;InbreedingCoeff=-0.1768;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.922;SOR=9.289	GT:AD:DP:GQ:PL	0/1:78,21:99:87:87,0,2013	7	0	3	0
chr15	69256054	69256054	A	G	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324091:exon3:c.A248G:p.K83R,GLCE:NM_015554:exon3:c.A248G:p.K83R,GLCE:NM_001324093:exon4:c.A248G:p.K83R,GLCE:NM_001324094:exon4:c.A248G:p.K83R	.	429	1092	1	0	0	1	0.000457666	.	.	.	714572	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0094	0.0121805	0.0031	0.0302	0.0023	0	0	0.0005	0.0022	0.0002	0.0030853	477	154602	rs61746980	0.0013	0.0013	0.0015	0.0012	0.0321	0.0013	0.0013	0.0305	0.0298	0.0321	0.0032	0.0007	0	0	0.0019	0.0005	0.0028	0.0005	0.0100	0.0100	0.0103	0.0097	0.0324	0.0096	0.0094	0.0309	0.0303	0.0324	0	0.0078	0.0006	0	9.411e-05	0.0068	0.0005	0.0076	0.0004	0.214	0.28772	T	0.487	0.11656	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.84330	D	0.094194	0.700816	0.34575	D	0.755	0.19153	N	1.48	0.31731	T	-0.19	0.09965	N	0.063	0.10056	-1.0441	0.16089	T	0.009	0.03096	T	10	0.002390802	0.00035	T	.	.	.	0.074	0.21613	.	.	0.465806656444	0.46208	0.39450988241106466	0.39365	0.319701965432	0.34168	0.433156967163	0.29640	T	0.333894	0.70370	T	-0.607302	0.00132	T	-0.622126	0.11018	T	0.0199262231920127	0.00693	T	0.754824	0.37774	T	0.13466361	0.31281	0.09052559	0.21232	0.13466361	0.31280	0.09052559	0.21232	-3.847	0.21508	T	.	.	0.088	0.11701	B	.;.	.;.	2.300044	0.29432	18.12	0.99491247469827204	0.67460	0.94950	0.62896	D	AEFDGBHI	0.244580	0.36566	N	-0.379095534821612	0.26215	1.429028	-0.172567938165722	0.32550	1.852965	0.999897900488652	0.45129	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.3	2.99	0.33673	3.963000	0.56480	4.180000	0.42331	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8396:0.0:0.1604:0.0	8.566	0.32703	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	0.004532	0.025253	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2247.43	41	chr15	69256054	.	A	G	2247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.323;DP=519;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.23;SOR=0.691	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2259,0,2191	9	0	1	0
chr15	69268342	69268342	C	T	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324092:exon4:c.C181T:p.L61F,GLCE:NM_015554:exon5:c.C952T:p.L318F,GLCE:NM_001324093:exon6:c.C952T:p.L318F,GLCE:NM_001324094:exon6:c.C952T:p.L318F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00961212537353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.07473	T	0.673	0.06245	T	0.294	0.32391	B	0.039	0.23607	B	0.000014	0.62929	D	0.117299	0.97128	0.38859	D	1.67	0.42885	L	1.4	0.33630	T	-1.52	0.36980	N	0.229	0.26957	-1.0705	0.09304	T	0.071	0.28871	T	10	0.15230167	0.28770	T	0.009612	0.25130	T	0.062	0.17934	0.296	0.26041	0.385743280973	0.38186	0.1818463035224681	0.18103	0.496296462645	0.48146	0.511974096298	0.40498	T	0.594481	0.86912	D	-0.158924	0.26926	T	-0.46606	0.25943	T	0.38704913854599	0.28452	T	0.921108	0.71398	D	0.32328933	0.54916	0.21315694	0.45815	0.32328933	0.54916	0.21315694	0.45814	-5.327	0.40209	T	.	.	0.110	0.21125	B	.;.	.;.	2.142935	0.27288	17.41	0.98237384910952541	0.39449	0.91461	0.53581	D	AEFBI	0.372078	0.45785	N	-0.00556309749470511	0.41602	2.491405	0.150399244644302	0.47162	2.951	0.999953326985891	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	3.119000	0.50115	3.363000	0.37875	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1639:0.8361:0.0:0.0	12.781	0.56857	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	812.43	35	chr15	69268342	.	C	T	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-0.952;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,34:101:99:824,0,1674	9	0	1	0
chr15	73260364	73260364	T	C	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172623:exon15:c.T2297C:p.I766T,NEO1:NM_001172624:exon15:c.T2297C:p.I766T,NEO1:NM_002499:exon15:c.T2297C:p.I766T	.	.	.	.	.	.	.	.	.	.	.	3565604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0105684272862	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.94e-05	3	154602	rs200286275	1.847e-05	1.847e-05	1.906e-05	1.788e-05	3.478e-05	1.265e-05	1.084e-05	1.213e-05	1.03e-05	0	0	0	0	0	0	1.889e-05	4.968e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.025	0.47320	D	0.089	0.40426	T	0.579	0.38789	P	0.814	0.58796	P	0.000000	0.84330	D	0.047705	1	0.81001	D	1.04	0.26193	L	2.02	0.21119	T	-3.86	0.72471	D	0.475	0.55799	-1.1057	0.03467	T	0.083	0.32556	T	10	0.5856902	0.66097	D	0.010568	0.27259	T	0.329	0.65126	0.537	0.64730	0.382607109125	0.37878	0.4518500324431801	0.45103	0.275615061522	0.30037	0.831962585449	0.86864	D	0.418726	0.77098	T	0.0268761	0.55306	T	-0.0176429	0.69183	D	0.66841846704483	0.39267	D	0.974903	0.91709	D	0.43603823	0.63147	0.38064152	0.63092	0.43603823	0.63147	0.38064152	0.63092	-5.103	0.39784	T	.	.	0.355	0.59381	A	.;.;.;.;.	.;.;.;.;.	3.722239	0.53200	23.3	0.99850027860766932	0.92925	0.97008	0.72158	D	AEFGBI	0.783156	0.71422	D	0.416933984709269	0.62354	4.449845	0.483575092644581	0.66900	5.012895	0.99999584788355	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	6.210000	0.72114	5.076000	0.47223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.371	0.74284	675	0.60470	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1721.43	34	chr15	73260364	.	T	C	1721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.742;DP=449;ExcessHet=0;FS=1.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.757;SOR=0.55	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1733,0,1383	9	0	1	0
chr15	75844444	75844444	T	C	exonic	UBE2Q2	.	nonsynonymous SNV	UBE2Q2:NM_001145335:exon1:c.T91C:p.C31R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000845717180134	.	.	5.033e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs745615700	5.574e-05	5.336e-05	6.063e-05	5.071e-05	0.0012	4.538e-05	4.197e-05	0.0006	0.0004	0	0	0	0	0	0.0012	6.024e-05	8.622e-05	1.262e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0.0034	0	0	0.0002	0.011	0.55530	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	.	.	.	1.16	0.01136	N	0.142	0.14196	-1.0133	0.25880	T	0.059	0.24575	T	8	0.05821386	0.06809	T	8.46E-4	0.00713	T	.	.	.	.	0.241078983079	0.23725	.	.	.	.	.	.	.	.	.	.	-0.300929	0.08572	T	-0.444338	0.28323	T	0.0634488672709693	0.07700	T	0.230977	0.03126	T	.	.	.	.	.	.	.	.	-2.374	0.04976	T	.	.	0.224	0.45605	B	.	.	0.577085	0.09458	6.234	0.65398601453607386	0.07761	0.02125	0.06275	N	ALL	0.047009	0.07869	N	-1.25421900902732	0.04244	0.191169	-1.34997229990628	0.03806	0.1782938	0.999999999997514	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.179345	0.04352	3	0.56214	0.19341	0	.	.	2.31	-2.24	0.06518	-0.004000	0.12813	-1.348000	0.05654	-0.183000	0.09960	0.064000	0.21895	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.6637:0.3363	8.805	0.34088	213	0.91726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2087.43	40	chr15	75844444	.	T	C	2087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.114;DP=530;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.021;SOR=0.629	GT:AD:DP:GQ:PL	0/1:90,95:185:99:2099,0,2310	9	0	1	0
chr15	77114350	77114350	T	G	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon8:c.A5047C:p.S1683R,PEAK1:NM_001385026:exon10:c.A5047C:p.S1683R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0197898326284	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234979243	3.42e-06	3.42e-06	6.806e-06	0	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	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.456	0.12740	T	0.001	0.07471	B	0.001	0.04355	B	0.167843	0.17464	U	0.548905	1	0.08975	N	0.895	0.22405	L	-0.41	0.69413	T	-1.06	0.27669	N	0.169	0.17966	-1.0175	0.24528	T	0.117	0.41341	T	10	0.08972207	0.15567	T	0.01979	0.42241	T	0.110	0.31079	0.553	0.66995	0.20808081866	0.20439	0.4181313653680462	0.41729	0.0666632247173	0.07434	0.339246571064	0.16325	T	0.02292	0.17585	T	-0.133887	0.30870	T	-0.430096	0.29925	T	0.0531158180981099	0.06039	T	0.445455	0.12454	T	0.11585771	0.27334	0.11630786	0.28078	0.11585771	0.27334	0.11630786	0.28077	-4.935	0.36126	T	.	.	0.272	0.50563	B	.;.	.;.	0.662584	0.10309	7.041	0.93661038767010396	0.23551	0.71772	0.35158	D	AEFBI	0.198678	0.32552	N	-1.0178560477284	0.08233	0.3853115	-0.927313336151418	0.11451	0.5834265	0.999729476171335	0.42220	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	1.95	0.25130	0.453000	0.21523	0.448000	0.18493	-0.137000	0.12594	0.176000	0.24013	0.187000	0.23467	0.009000	0.08673	0.0:0.2951:0.0:0.7049	8.264	0.30964	363	0.84772	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1865.43	33	chr15	77114350	.	T	G	1865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.849;DP=541;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-2.391;SOR=0.722	GT:AD:DP:GQ:PL	0/1:82,79:161:99:1877,0,2084	9	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	59.84	117	chr15	82344942	.	T	*	59.84	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.45;DP=914;ExcessHet=0.9691;FS=26.476;InbreedingCoeff=-0.3156;MLEAC=3;MLEAF=0.5;MQ=50.96;MQRankSum=-2.926;QD=0.22;ReadPosRankSum=-0.662;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,9:122:99:.:.:347,0,3989:.	1	0	2	7
chr15	82344961	82344961	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	58.34	122	chr15	82344961	.	C	*	58.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.59;DP=925;ExcessHet=0.7463;FS=31.213;InbreedingCoeff=-0.2122;MLEAC=2;MLEAF=0.111;MQ=50.87;MQRankSum=-3.044;QD=0.21;ReadPosRankSum=0.146;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,9:122:99:.:.:347,0,3989:.	7	0	2	1
chr15	84512517	84512517	T	0	exonic	GOLGA6L4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	669.54	36	chr15	84512517	.	T	*	669.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.649;DP=796;ExcessHet=0.2348;FS=4.053;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=46.45;MQRankSum=-2.969;QD=2.61;ReadPosRankSum=0.799;SOR=1.081	GT:AD:DP:GQ:PL	0/1:167,17:184:99:227,0,6819	9	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	568.24	102	chr15	88530840	.	T	C	568.24	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.277;DP=924;ExcessHet=2.8389;FS=147.511;InbreedingCoeff=-0.3348;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.194;SOR=10.283	GT:AD:DP:GQ:PL	0/1:92,30:122:99:229,0,1944	5	0	5	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14490.1	52	chr15	89776903	.	AGGGCAGGGGCAG	*	14490.1	.	AC=4;AF=0.2;AN=20;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=4;MLEAF=0.2;MQ=60;QD=33.86;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,11:33:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1417,880,840:89776889	6	0	4	0
chr15	89803917	89803917	G	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon6:c.C1265G:p.A422G,ANPEP:NM_001150:exon7:c.C1265G:p.A422G,ANPEP:NM_001381923:exon7:c.C1265G:p.A422G	.	427	1083	12	0	0	12	0.00550964	.	.	.	726340	ANPEP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0259706140442	0.0015	0.00179712	0.0020	0.0005	0.0019	0	0.0021	0.0022	0.0022	0.0033	0.0019146	296	154602	rs144282919	0.0020	0.0020	0.0019	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0021	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0041	0.0016	0.0015	0.0027	0.0023	0.0007	0	0.0020	0	0	0.0019	0.0068	0.0024	0.0028	0.0041	0.016	0.51853	D	0.003	0.76473	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.998813	0.45492	D	2.31	0.66127	M	4.15	0.02815	T	-3.41	0.67129	D	0.708	0.71143	-1.1912	0.00229	T	0.034	0.14596	T	10	0.027962267	0.00934	T	0.025971	0.48910	D	0.206	0.49396	.	.	0.5353919603	0.53189	0.5511601366670511	0.55042	0.826528018319	0.67431	0.403196841478	0.25514	T	0.298852	0.67140	T	-0.409085	0.02016	T	-0.362504	0.37763	T	0.0143330079449275	0.00286	T	0.865813	0.56549	D	0.8962787	0.91052	0.71628726	0.83254	0.8962787	0.91054	0.71628726	0.83255	-10.542	0.77088	D	.	.	0.223	0.45384	B	.	.	4.560386	0.71854	25.7	0.99685103855634227	0.79507	0.96040	0.67261	D	AEFDBCI	0.799146	0.72549	D	0.50535029227732	0.67405	5.077351	0.415320321123462	0.62519	4.468608	0.99999990718495	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	3.65	0.40985	4.272000	0.58705	5.077000	0.47232	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0982:0.0:0.9018:0.0	10.405	0.43434	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	1674.43	36	chr15	89803917	.	G	C	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=471;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.323;SOR=0.601	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1686,0,1503	9	0	1	0
chr15	89805203	89805203	G	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.C772A:p.L258I,ANPEP:NM_001150:exon4:c.C772A:p.L258I,ANPEP:NM_001381923:exon4:c.C772A:p.L258I	.	414	1096	12	0	0	12	0.00544465	.	.	.	726341	ANPEP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00366820839329	0.0015	0.00159744	0.0019	0.0005	0.0017	0	0.0021	0.0021	0.0022	0.0031	0.0018305	283	154602	rs146926671	0.0019	0.0019	0.0018	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0017	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0048	0.0016	0.0015	0.0033	0.0028	0.0007	0	0.0016	0	0	0.0019	0.0068	0.0024	0.0028	0.0048	0.436	0.09374	T	0.497	0.11299	T	0.005	0.12996	B	0.016	0.17743	B	0.000000	0.00162	N	15.991200	1	0.08975	N	0.475	0.13142	N	4.24	0.02590	T	-0.02	0.07299	N	0.214	0.23884	-0.9357	0.43288	T	0.006	0.01944	T	10	0.0043984354	0.00089	T	0.003668	0.08464	T	0.021	0.04004	.	.	0.252681307341	0.24864	0.42566844532429726	0.42483	0.274924138337	0.29976	0.269383579493	0.06060	T	0.127907	0.45523	T	-0.66847	0.00056	T	-0.735093	0.04100	T	0.00379468395581677	0.00040	T	0.669833	0.27843	T	0.16779764	0.37198	0.03854443	0.03748	0.16779764	0.37198	0.03854443	0.03747	-3.983	0.23548	T	.	.	0.09	0.12607	B	.	.	-2.217674	0.00061	0.001	0.80936852884495825	0.13440	0.13072	0.17647	N	AEFGBCI	0.211760	0.33752	N	-1.34560822965062	0.03171	0.1411956	-1.40565723452777	0.03195	0.1485408	0.999439436612652	0.39683	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.42	-3.78	0.04049	-3.933000	0.00373	-13.273000	0.00469	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.41:0.1158:0.3576:0.1166	2.453	0.04248	448	0.79501	.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	1740.43	36	chr15	89805203	.	G	T	1740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.546;DP=460;ExcessHet=0;FS=2.186;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.449;SOR=0.524	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1752,0,1782	9	0	1	0
chr15	90909460	90909460	C	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon9:c.C1330T:p.R444W,MAN2A2:NM_001320977:exon10:c.C1330T:p.R444W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.074877631857	.	0.000199681	2.473e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs533695393	3.284e-05	3.352e-05	3.403e-05	3.163e-05	6.956e-05	2.543e-05	2.249e-05	2.995e-05	2.305e-05	0	2.236e-05	0	0	1.872e-05	0	3.507e-05	1.656e-05	6.956e-05	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	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.948	0.68536	D	0.000014	0.62929	D	0.113605	0.993785	0.81001	D	2.66	0.77858	M	1.91	0.23283	T	-5.1	0.83027	D	0.647	0.65844	-0.7573	0.57551	T	0.171	0.51181	T	10	0.3880512	0.54687	T	0.074878	0.72151	D	0.297	0.61730	0.596	0.72617	0.587872879989	0.58462	0.8861659850876773	0.88585	0.885982533807	0.69996	0.630673587322	0.57241	T	0.824705	0.95751	D	-0.204018	0.20227	T	-0.294166	0.45338	T	0.967939615249634	0.68074	D	0.970703	0.96434	D	0.7691214	0.81995	0.7917122	0.87751	0.7691214	0.81997	0.7917122	0.87752	-12.293	0.86248	D	.	.	0.186	0.55348	B	.;.;.	.;.;.	4.919604	0.81018	27.5	0.99895142767474399	0.96819	0.97568	0.75603	D	AEFDBI	0.406848	0.47917	N	0.621081797597444	0.74509	6.144911	0.57541408784043	0.73183	5.928797	0.999986251741613	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.74	4.81	0.61401	3.123000	0.50147	1.710000	0.28189	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.28:0.72:0.0:0.0	13.677	0.61936	639	0.64210	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-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	1573.43	34	chr15	90909460	.	C	T	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=507;ExcessHet=0;FS=2.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.719;SOR=0.957	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1585,0,1663	9	0	1	0
chr15	94399031	94399031	T	C	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001159644:exon7:c.T623C:p.I208T,MCTP2:NM_001385009:exon14:c.T1361C:p.I454T,MCTP2:NM_001385010:exon14:c.T1361C:p.I454T,MCTP2:NM_001385001:exon15:c.T1859C:p.I620T,MCTP2:NM_001385003:exon15:c.T1859C:p.I620T,MCTP2:NM_001385004:exon15:c.T1859C:p.I620T,MCTP2:NM_001385005:exon15:c.T1859C:p.I620T,MCTP2:NM_001385006:exon15:c.T1859C:p.I620T,MCTP2:NM_001385008:exon15:c.T1859C:p.I620T,MCTP2:NM_001159643:exon16:c.T1859C:p.I620T,MCTP2:NM_001385002:exon16:c.T1859C:p.I620T,MCTP2:NM_001385011:exon16:c.T1541C:p.I514T,MCTP2:NM_018349:exon16:c.T1859C:p.I620T,MCTP2:NM_001385007:exon17:c.T1577C:p.I526T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.119381004754	.	.	4.154e-05	0	0	0.0002	0	3.019e-05	0	6.095e-05	3.23e-05	5	154602	rs749725540	2.866e-06	2.738e-06	2.867e-06	2.865e-06	1.179e-05	6.7e-07	4.5e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.852e-06	0	1.179e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.974	0.64738	D	0.959	0.73820	D	0.000000	0.84330	D	0.049645	0.999943	0.51968	D	2.625	0.76847	M	-0.77	0.73523	T	-4.4	0.79998	D	0.896	0.90138	0.271	0.87087	D	0.582	0.84955	D	10	0.82298005	0.81492	D	0.119381	0.79967	D	0.783	0.92787	0.551	0.66716	0.682740069428	0.68003	0.854472651593131	0.85410	0.142587795851	0.16085	0.695002555847	0.66424	T	0.485232	0.81221	T	0.162488	0.70430	D	0.260055	0.86094	D	0.829365253448486	0.48481	D	0.947205	0.79675	D	0.6759331	0.76751	0.66041696	0.80104	0.6759331	0.76752	0.66041696	0.80105	-13.405	0.90962	D	.	.	0.943	0.86244	P	.;.;.	.;.;.	4.510000	0.70621	25.5	0.99862710619670869	0.94093	0.96771	0.70851	D	AEFI	0.645957	0.62166	D	0.721996853339069	0.81075	7.438	0.688969717858763	0.81542	7.550916	0.912529131039958	0.26397	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	5.256000	0.65286	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.387	0.74428	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1033.43	34	chr15	94399031	.	T	C	1033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.362;DP=398;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.258;SOR=0.538	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1045,0,1145	9	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.1	3081.14	131	chr16	377699	.	C	G	3081.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.845;DP=937;ExcessHet=0.2348;FS=4.618;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.462;SOR=0.454	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1498,0,1192	8	0	2	0
chr16	1338575	1338575	G	C	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.G26C:p.S9T,BAIAP3:NM_001199097:exon2:c.G26C:p.S9T,BAIAP3:NM_001199098:exon2:c.G26C:p.S9T,BAIAP3:NM_001199099:exon2:c.G26C:p.S9T,BAIAP3:NM_001286464:exon2:c.G26C:p.S9T,BAIAP3:NM_003933:exon2:c.G131C:p.S44T	.	.	.	.	.	.	.	.	.	.	.	2377065	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.283425182867	.	.	4.3e-05	0	0	0	0	7.655e-05	0	0	2.59e-05	4	154602	rs778099100	2.949e-05	2.941e-05	3.138e-05	2.758e-05	0.0006	2.222e-05	1.975e-05	0.0001	7.971e-05	0.0001	0	0	0	0	0.0006	2.881e-05	4.98e-05	1.166e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.513748	0.31840	D	2.47	0.71715	M	-0.85	0.85875	T	-1.07	0.31170	N	0.438	0.57263	-0.0219	0.81800	T	0.517	0.81946	D	10	0.32610685	0.49912	T	0.283425	0.90312	D	0.275	0.59130	0.179	0.08626	0.919509768602	0.91869	0.5019554868937898	0.50117	0.4403143847	0.44044	0.58450371027	0.50719	T	0.015525	0.13004	T	-0.0946415	0.37309	T	-0.174729	0.57009	T	0.41522902704126	0.29513	T	0.79652	0.59504	T	0.53212565	0.68951	0.5074389	0.71533	0.53212565	0.68952	0.5074389	0.71533	-4.48	0.30836	T	.	.	0.274	0.54926	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.026005	0.59503	24.1	0.99635246520776688	0.76326	0.64570	0.32450	D	AEFDBCI	0.399949	0.47503	N	0.420743365747856	0.62563	4.474322	0.375531536611118	0.60061	4.189538	0.998531431432562	0.37148	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	4.01	4.01	0.45821	0.961000	0.28864	8.489000	0.77323	0.618000	0.50648	0.009000	0.18154	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	11.818	0.51495	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1126.43	39	chr16	1338575	.	G	C	1126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.673;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-1.349;SOR=0.704	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1138,0,1673	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	0/1:40,41:81:99:.:.:1381,0,1247:.	2	1	6	1
chr16	2062988	2062988	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon11:c.G778A:p.A260T,TSC2:NM_001318827:exon13:c.G1267A:p.A423T,TSC2:NM_001318829:exon13:c.G1231A:p.A411T,TSC2:NM_000548:exon14:c.G1378A:p.A460T,TSC2:NM_001077183:exon14:c.G1378A:p.A460T,TSC2:NM_001114382:exon14:c.G1378A:p.A460T,TSC2:NM_001318832:exon14:c.G1411A:p.A471T,TSC2:NM_001363528:exon14:c.G1378A:p.A460T,TSC2:NM_001370404:exon14:c.G1378A:p.A460T,TSC2:NM_001370405:exon14:c.G1378A:p.A460T,TSC2:NM_021055:exon14:c.G1378A:p.A460T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	YES	58822	Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|Tuberous_sclerosis_syndrome|not_specified|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:CN169374|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.563	0.162465087376	0.0008	.	0.0024	0.0004	0	0	0	0.0054	0.0052	0.0001	0.0004786	74	154602	rs137854154	0.0007	0.0007	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0078	3.166e-05	0.0004	0.0149	8.396e-05	0	0.0108	0.0004	0.0017	0.0001	0.0007	0.0007	0.0007	0.0008	0.0005	0.0006	0.0006	0.0004	0.0003	2.405e-05	0	0.0003	0.0161	0.0002	0	0.0442	0.0005	0.0014	0.0002	0.407	0.10245	T	0.587	0.08565	T	1.0	0.90584	D	0.997	0.86255	D	0.000544	0.43413	D	0.207417	0.99969	0.48338	D	1.645	0.42016	L	-1.35	0.80035	T	-0.43	0.19085	N	0.654	0.86085	-0.1755	0.78293	T	0.547	0.83379	D	10	0.009741873	0.00219	T	0.162465	0.84203	D	0.563	0.82118	.	.	0.812524160204	0.81076	0.16594122693251886	0.16514	.	.	0.491957485676	0.37710	T	0.328302	0.69873	T	0.0682677	0.60639	T	0.243502	0.85311	D	0.0603967384181006	0.07231	T	0.874113	0.58433	D	0.07935697	0.18124	0.07210155	0.15515	0.08406206	0.19439	0.07072015	0.15057	-5.549	0.42324	T	0.2994829771627527	0.39674	0.089	0.13127	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.493073	0.70201	25.5	0.99594259389761552	0.73807	0.94236	0.60528	D	AEFBHCI	0.792699	0.72092	D	0.402941493836061	0.61584	4.361499	0.435621694201341	0.63798	4.620965	0.999999999677212	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.292000	0.78084	8.524000	0.77433	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.0:1.0:0.0	18.812	0.92027	726	0.54788	Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004138	0.000000	0.012346	0.006897	0.000000	0.000000	0.000000	0.000000	0.05	765.43	38	chr16	2062988	.	G	A	765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.014;DP=387;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.423;SOR=0.846	GT:AD:DP:GQ:PL	0/1:33,31:64:99:777,0,797	9	0	1	0
chr16	2530684	2530684	T	G	exonic	AMDHD2;CEMP1	.	nonsynonymous SNV	AMDHD2:NM_001145815:exon11:c.T1710G:p.D570E	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00705527406933	0.0005	.	0.0003	0.0001	0.0003	0	0	0.0005	0	0.0001	0.0003428	53	154602	rs200546798	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0003	0	0	7.497e-05	0.0002	0.0007	0.0010	9.275e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	9.423e-05	0	0.0006	0	0	0.0	0.91255	D	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.01	0.07155	N	0.101	0.08366	-1.0157	0.25110	T	0.064	0.26456	T	7	0.023994029	0.00645	T	0.007055	0.18676	T	0.034	0.08419	0.175	0.08135	0.1749357433	0.17121	0.009634628841564331	0.00925	0.00420445280622	0.00371	0.302809298038	0.10821	T	.	.	.	-0.623531	0.00105	T	-0.742549	0.03784	T	0.00574736856896606	0.00063	T	0.19558	0.02146	T	.	.	.	.	.	.	.	.	-2.716	0.07438	T	.	.	0.098	0.16099	B	.	.	-0.107285	0.03600	0.705	0.47355509382007549	0.03865	0.03378	0.08480	N	AEFBCI	.	.	.	-1.43877813674111	0.02306	0.1016876	-1.57962143374074	0.01780	0.081014	0.999996785225001	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	1.96	-2.88	0.05342	-0.335000	0.07917	-1.085000	0.06377	-0.814000	0.03034	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2803:0.2169:0.5028	3.424	0.06974	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1634.43	36	chr16	2530684	.	T	G	1634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=440;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=2.13;SOR=0.459	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1646,0,1779	9	0	1	0
chr16	4681761	4681761	G	C	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon12:c.G1277C:p.S426T,MGRN1:NM_001142291:exon12:c.G1277C:p.S426T,MGRN1:NM_001142290:exon13:c.G1343C:p.S448T,MGRN1:NM_015246:exon13:c.G1343C:p.S448T	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.020926345543	.	.	9.983e-05	0	9.101e-05	0	0	1.659e-05	0	0.0006	7.12e-05	11	154602	rs769483930	5.208e-05	5.199e-05	3.818e-05	6.612e-05	0.0007	4.265e-05	3.894e-05	0.0003	0.0003	0	8.958e-05	0	0	0	0.0007	1.35e-05	0.0002	0.0004	5.911e-05	5.909e-05	3.852e-05	8.066e-05	0.0004	3.076e-05	2.209e-05	0.0001	8.284e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0.0004	0.14	0.25664	T	0.366	0.20164	T	0.454	0.39586	P	0.197	0.42432	B	0.000414	0.44736	D	0.322570	0.998326	0.44771	D	1.7	0.43825	L	1.3	0.35590	T	-1.0	0.26422	N	0.261	0.33140	-1.1045	0.03588	T	0.053	0.22501	T	10	0.05583927	0.06166	T	0.020926	0.43616	T	0.042	0.11227	0.132	0.03662	0.173771789658	0.16945	0.35169590151705293	0.35083	0.0347031967724	0.03653	0.367655932903	0.20495	T	0.181141	0.53272	T	-0.506099	0.00528	T	-0.642786	0.09468	T	0.0479850810953752	0.05141	T	0.849315	0.53201	T	0.09086526	0.21275	0.067303315	0.13906	0.09086526	0.21274	0.067303315	0.13906	-3.823	0.22122	T	.	.	0.071	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	1.372379	0.17825	13.39	0.62041207141825672	0.06861	0.85513	0.44653	D	AEFDBCI	0.452586	0.50608	N	-0.60187077948584	0.18888	0.9842668	-0.600923122901011	0.19469	1.044708	0.999921168459923	0.46280	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.33	-0.291	0.12207	1.294000	0.32971	1.843000	0.29202	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.2583:0.194:0.5478:0.0	6.381	0.20740	702	0.57624	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	868.43	34	chr16	4681761	.	G	C	868.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.453;DP=382;ExcessHet=0;FS=2.293;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.692;SOR=1.077	GT:AD:DP:GQ:PL	0/1:33,31:64:99:880,0,878	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	0/1:116,51:167:98:98,0,1867	0	0	10	0
chr16	15092583	15092583	A	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon2:c.T121A:p.F41I,RRN3:NM_018427:exon2:c.T121A:p.F41I	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.1119176956	0.0009	0.000399361	0.0011	9.654e-05	0.0004	0	0.0032	0.0013	0.0033	0.0012	0.0009702	150	154602	rs150087182	0.0013	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0014	0.0014	5.977e-05	0.0006	0	0	0.0025	0.0012	0.0014	0.0010	0.0016	0.0009	0.0009	0.0009	0.0009	0.0017	0.0008	0.0008	0.0012	0.0011	7.213e-05	0	0.0003	0	0	0.0028	0	0.0014	0	0.0017	0.066	0.58626	T	0.016	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000033	0.55875	U	0.073760	1	0.81001	D	0.695	0.17993	N	0.78	0.64818	T	-1.42	0.46146	N	0.665	0.72299	-0.7596	0.57427	T	0.246	0.61506	T	10	0.018967181	0.00418	T	0.111918	0.78987	D	0.267	0.58126	.	.	0.729076668298	0.72667	0.6555393035927279	0.65489	0.82004380944	0.67116	0.568011641502	0.48396	T	0.129067	0.45712	T	-0.259441	0.12965	T	-0.15223	0.59046	T	0.0541908414942471	0.06222	T	0.834417	0.50357	T	0.13936517	0.32196	0.09549961	0.22653	0.13936517	0.32196	0.09549961	0.22653	-3.409	0.17467	T	.	.	0.161	0.35540	B	.;.;.;.;.	.;.;.;.;.	4.095015	0.61022	24.3	0.98562150874574928	0.42986	0.98806	0.87096	D	AEBI	0.822867	0.74310	D	0.247532225416644	0.53517	3.520188	0.267095466191024	0.53627	3.530811	0.999999981709966	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.651492	0.60203	0	.	.	3.78	3.78	0.42629	7.440000	0.79607	7.917000	0.74325	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	12.014	0.52594	588	0.69043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001825	0.000000	0.000000	0.000000	0.000000	0.008929	0.000000	0.008547	0.1	1672.14	37	chr16	15092583	.	A	T	1672.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.821;DP=432;ExcessHet=0.2348;FS=1.353;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.96;MQRankSum=-0.214;QD=11.45;ReadPosRankSum=0.878;SOR=0.576	GT:AD:DP:GQ:PL	0/1:37,40:77:99:985,0,916	8	0	2	0
chr16	15363700	15363700	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C1012A:p.L338I	.	477	1029	3	0	13	16	0.0014556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.0505192	2.003e-05	0	0	0.0002	0	1.746e-05	0	0	0.0097203	253	26028	rs527823489	5.255e-05	0.0002	4.093e-05	6.428e-05	0.0007	4.223e-05	3.869e-05	0.0004	0.0003	3.2e-05	0.0002	0	0.0007	5.98e-05	0	2.624e-05	7.646e-05	0.0001	0.0004	0.0022	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0002	0.0006	0.0007	0.0006	0	0.0005	0	0.0005	0.233	0.18122	T	0.309	0.19782	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	0.81	0.48460	T	-0.55	0.16799	N	0.131	0.12627	-1.0168	0.24755	T	0.057	0.23866	T	4	0.002976656	0.00048	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.004372647717961943	0.00411	0.915822070405	0.71238	.	.	.	0.001687	0.01111	T	-0.306415	0.08069	T	-0.677921	0.07111	T	0.018812470270739	0.00592	T	0.285071	0.05059	T	0.12543179	0.29405	0.07566399	0.16681	0.12543179	0.29404	0.07566399	0.16681	-4.525	0.31214	T	.	.	0.089	0.12276	B	.	.	-0.234146	0.02921	0.425	0.75929779573027789	0.11266	0.00194	0.01121	N	AEFI	0.047871	0.08110	N	-0.687684925856888	0.16372	0.8335252	-0.791889517941179	0.14694	0.769087	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-1.271000	0.02936	-10.382000	0.00708	-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	.	.	.	.	.	.	.	.	0.05	642.47	33	chr16	15363700	.	G	T	642.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=465;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.05;MQ=53.28;MQRankSum=-7.718;QD=6.49;ReadPosRankSum=-3.985;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,24:99:99:0|1:15363700_G_T:654,0,3078:15363700	9	0	1	0
chr16	15363708	15363709	AC	-	exonic	NPIPA5	.	stoploss	NPIPA5:NM_001277325:exon8:c.1003_1004del:p.R89_90insRSNCRRQEGIKIVLEDIFTLWRQVETKVRAKIRKMKVTTKVNRHDKINGKRKTAKEHLRKLSMKEREHGEKERQVSEAEENGKLDMKEIHTYMEMFQRAQALRRRAEDYYRCKITPSARKPLCNRVRMAAVEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSIIDNSLSLKTPSERLLYPLPPSADDNLKTPPECLLTPLPPSALPSADDNLKTPAECLLTPLPPSAPPSADDNLKTPPECLLTPLPPSADDNLKKLMKNK*	.	474	1035	9	3	1	16	0.00719424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.985e-05	0	0	0.0004	0	3.475e-05	0	0.0003	3.84e-05	1	26028	rs762895556	7.11e-05	0.0002	7.074e-05	7.146e-05	0.0009	5.928e-05	5.502e-05	0.0006	0.0005	0	0.0003	4.439e-05	0.0009	5.932e-05	0	4.347e-05	5.664e-05	0.0001	0.0005	0.0026	0.0005	0.0005	0.0015	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0003	0.0006	0.0015	0.0007	0	0.0006	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	991.43	33	chr16	15363707	.	GAC	G	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.74;DP=483;ExcessHet=0;FS=5.2;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.05;MQ=53.77;MQRankSum=-6.47;QD=8.47;ReadPosRankSum=-5.469;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,35:117:99:0|1:15363700_G_T:1003,0,3339:15363700	9	0	1	0
chr16	17470643	17470643	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon1:c.G154A:p.G52S	Desbuquois dysplasia 2, Autosomal recessive	335	1186	1	0	0	1	0.000421408	.	.	.	573744	XYLT1-related_disorder|not_provided|Desbuquois_dysplasia_1	.|MedGen:C3661900|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0083	0	0	0	0	0	0	0.0108	0.0001423	22	154602	rs766521030	0.0014	0.0012	0.0014	0.0014	0.0020	0.0014	0.0013	0.0016	0.0015	0.0002	0.0002	0	0	0	0	0.0015	0.0013	0.0020	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0007	0.0012	0.0012	0.0006	0	0.0002	0	0	0.0001	0	0.0015	0.0005	0.0017	0.2	0.20381	T	0.646	0.06836	T	0.002	0.09854	B	0.0	0.01387	B	0.762402	0.06548	U	1.272680	0.999997	0.08975	N	0	0.06538	N	3.72	0.04014	T	-0.02	0.07299	N	0.074	0.04790	-0.9040	0.47561	T	0.008	0.02720	T	10	0.004581392	0.00095	T	.	.	.	0.027	0.05988	.	.	0.0675242888579	0.06100	0.3027944210675014	0.30192	0.218589782326	0.24401	0.880343794823	0.94006	D	0.011955	0.10589	T	-0.644677	0.00078	T	-0.704978	0.05558	T	0.0144837201733808	0.00294	T	.	.	.	0.08412715	0.19459	0.10554958	0.25375	0.08412715	0.19458	0.10554958	0.25375	-5.719	0.43862	T	.	.	0.104	0.18705	B	.	.	2.191441	0.27940	17.63	0.9553868137550926	0.27183	0.03860	0.09219	N	AEFDBHCI	0.040586	0.06057	N	-1.09693957502039	0.06699	0.3091363	-1.12061787919747	0.07306	0.3549148	0.99994262170587	0.47345	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.62	0.456	0.15868	0.110000	0.15273	2.751000	0.34535	0.259000	0.18387	0.002000	0.15269	1.000000	0.68203	0.092000	0.17891	0.0:0.7681:0.0:0.2319	4.531	0.11411	968	0.07033	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	383.25	14	chr16	17470643	.	C	T	383.25	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.909;DP=138;ExcessHet=0;FS=7.231;InbreedingCoeff=-0.094;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.417;SOR=1.773	GT:AD:DP:GQ:PL	0/1:8,18:26:99:394,0,210	8	0	1	1
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	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	0.001144	0.000000	0.000000	0.000000	0.000000	0.000000	0.003497	0.004000	0.1	2391.14	301	chr16	18520877	.	T	C	2391.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.49;DP=913;ExcessHet=0.2348;FS=2.015;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=32.75;MQRankSum=-0.712;QD=4.19;ReadPosRankSum=1.12;SOR=0.523	GT:AD:DP:GQ:PL	0/1:205,64:269:99:983,0,4930	8	0	2	0
chr16	22309031	22309031	C	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon4:c.C164T:p.T55M,POLR3E:NM_001258035:exon4:c.C164T:p.T55M,POLR3E:NM_001258033:exon5:c.C272T:p.T91M,POLR3E:NM_001258036:exon5:c.C272T:p.T91M,POLR3E:NM_018119:exon5:c.C272T:p.T91M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0322927546995	.	.	4.156e-05	0	0.0002	0	0.0002	0	0	0.0001	3.23e-05	5	154602	rs771336397	4.596e-05	4.652e-05	4.096e-05	5.101e-05	0.0010	3.672e-05	3.356e-05	0.0005	0.0003	2.994e-05	2.24e-05	0	0.0002	0	0.0010	1.804e-05	4.978e-05	0.0003	4.6e-05	4.597e-05	6.423e-05	2.691e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	9.651e-05	0	6.546e-05	0	0	0	0	0	0	0.0004	0.077	0.43708	T	0.052	0.61642	T	0.999	0.77913	D	0.94	0.67560	D	0.000011	0.62929	D	0.148023	0.999974	0.53665	D	2.7	0.79018	M	0.77	0.49642	T	-2.39	0.57762	N	0.654	0.68082	-0.4483	0.70456	T	0.307	0.67749	T	10	0.33992898	0.51070	T	0.032293	0.54161	D	0.219	0.51417	0.612	0.74535	0.773445237949	0.77136	0.5048416891517822	0.50406	1.14632707793	0.79085	0.617921113968	0.55436	T	0.086642	0.54048	T	-0.109071	0.34921	T	-0.115015	0.62210	T	0.30562181763757	0.25234	T	.	.	.	0.078986086	0.18019	0.12385482	0.29861	0.078986086	0.18019	0.12385482	0.29860	-7.214	0.55603	T	.	.	0.115	0.29060	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.916700	0.80938	27.4	0.99894625864747266	0.96819	0.95725	0.65889	D	AEFDBCI	0.539182	0.55626	D	0.732767236439897	0.81779	7.603109	0.702235702939528	0.82549	7.794436	0.999899784981878	0.45129	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	5.615000	0.67382	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	18.557	0.91042	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1645.43	36	chr16	22309031	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.361;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.42;SOR=0.646	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1657,0,1754	9	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.45	33	chr16	29383301	.	T	C	262.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.962;DP=962;ExcessHet=0.7463;FS=13.835;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.24;MQRankSum=-0.81;QD=0.57;ReadPosRankSum=-5.196;SOR=2.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,14:184:77:0|1:29383231_G_T:77,0,6703:29383231	7	0	3	0
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.125	606.96	33	chr16	29383427	.	T	C	606.96	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.731;DP=539;ExcessHet=0;FS=4.357;InbreedingCoeff=0.6697;MLEAC=2;MLEAF=0.125;MQ=49.32;MQRankSum=-0.352;QD=24.28;ReadPosRankSum=-1.257;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,23:25:22:1|1:29383427_T_C:627,22,0:29383427	7	1	0	2
chr16	29383437	29383437	G	T	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1495A:p.P499T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.013040640946	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs796341971	0.0035	0.0005	0.0036	0.0034	0.0349	0.0032	0.0031	0.0244	0.0209	0.0250	0.0068	0.0021	0.0349	0.0016	0	0.0017	0.0060	0.0068	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.044	0.41096	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	1.965	0.53209	M	2.27	0.17431	T	-2.26	0.50502	N	0.085	0.06190	-0.9877	0.33175	T	0.053	0.22578	T	3	0.004444927	0.00091	T	0.013041	0.32127	T	0.086	0.25016	0.261	0.20473	0.128392430309	0.12331	0.04811201458583903	0.04754	.	.	.	.	.	0.062	0.31906	T	-0.670881	0.00054	T	-0.719531	0.04818	T	0.0103741038023816	0.00142	T	0.770923	0.40135	T	0.08623104	0.20036	0.13485615	0.32304	0.08623104	0.20036	0.13485615	0.32303	-4.477	0.30586	T	.	.	0.222	0.45261	B	.	.	1.461296	0.18836	13.95	0.9914587383974085	0.53682	0.00144	0.00877	N	AEFDI	0.034136	0.04175	N	-0.186021118236797	0.33715	1.916004	-0.3111444491505	0.27738	1.541	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	0.283000	0.18605	-0.295000	0.10161	0.285000	0.18709	0.004000	0.16614	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	.	.	.	.	.	.	.	.	1.0	265.51	112	chr16	29383437	.	G	T	265.51	.	AC=2;AF=1;AN=2;BaseQRankSum=1.83;DP=665;ExcessHet=0;FS=7.404;InbreedingCoeff=0.3327;MLEAC=3;MLEAF=1;MQ=49.52;MQRankSum=-0.66;QD=24.14;ReadPosRankSum=0.431;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,9:11:7:1|1:29383427_T_C:269,7,0:29383427	0	1	0	9
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|1:71,35:106:99:0|1:29485610_ACACACTC_A:452,0,2485:29485610	4	0	5	1
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5807.41	35	chr16	29810105	.	GGCAGCGGCA	G	5807.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.402;DP=612;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.509;SOR=0.706	GT:AD:DP:GQ:PL	0/1:65,56:121:99:2076,0,2512	7	0	3	0
chr16	29813466	29813466	C	G	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C412G:p.P138A,PRRT2:NM_001256443:exon2:c.C412G:p.P138A,PRRT2:NM_145239:exon2:c.C412G:p.P138A	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	135484	not_specified|Episodic_kinesigenic_dyskinesia|Inborn_genetic_diseases|not_provided|Episodic_kinesigenic_dyskinesia_1	MedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0014	0.0295527	0.0174	0.0028	0.0668	0.0979	0.0026	0.0007	0.0135	0.0228	0.0159054	2459	154602	rs79182085	0.0078	0.0078	0.0075	0.0080	0.1455	0.0077	0.0076	0.1424	0.1411	0.0010	0.0571	0	0.1455	0.0024	0.0028	0.0004	0.0080	0.0232	0.0079	0.0080	0.0067	0.0092	0.1012	0.0076	0.0074	0.0940	0.0912	0.0019	0	0.0265	0	0.1012	0.0024	0	0.0006	0.0080	0.0240	0.022	0.49117	D	0.029	0.54541	D	0.001	0.17989	B	0.001	0.16460	B	0.787771	0.09421	N	0.893166	0.994714	0.23459	N	1.445	0.36358	L	-0.63	0.74265	T	-0.33	0.19933	N	0.194	0.25745	-1.0983	0.04303	T	0.006	0.02055	T	10	0.001377523	0.00015	T	.	.	.	0.032	0.07718	.	.	.	.	0.039453504209102916	0.03891	0.270967634394	0.29621	0.319753050804	0.13383	T	0.009471	0.08620	T	-0.535628	0.00356	T	-0.398349	0.33576	T	0.000297025384191556	0.00002	T	0.721828	0.33531	T	0.07019904	0.15442	0.070397034	0.14952	0.04540043	0.07424	0.072905704	0.15783	-5.665	0.43479	T	0.1099383838119479	0.09235	0.064	0.04002	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.423944	0.18411	13.72	0.84130369696714713	0.15114	0.10893	0.16265	N	AEFBI	0.102383	0.20540	N	-0.791199834361241	0.13538	0.667666	-0.751181007533119	0.15693	0.8266299	0.999583868652927	0.40607	0.766844	0.99359	0	0.626922	0.53725	0	0.851219	0.99655	0	0.604944	0.38103	0	.	.	4.29	-0.297	0.12185	0.229000	0.17614	0.016000	0.13516	0.580000	0.29708	0.000000	0.06391	0.598000	0.25705	0.968000	0.53726	0.0:0.5136:0.1766:0.3098	3.995	0.09046	260	0.89800	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005045	0.000000	0.000000	0.002941	0.000000	0.008621	0.012195	0.011364	0.05	853.43	34	chr16	29813466	.	C	G	853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=397;ExcessHet=0;FS=3.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-2.003;SOR=0.346	GT:AD:DP:GQ:PL	0/1:35,35:70:99:865,0,966	9	0	1	0
chr16	30112751	30112751	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon3:c.G225C:p.Q75H	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	7.7e-05	0.0161741	0.0079	0	0.0008	0	0	3.053e-05	0.0112	0.0558	0.0068757	1063	154602	rs375485050	0.0034	0.0034	0.0019	0.0050	0.0545	0.0033	0.0033	0.0532	0.0527	0.0002	0.0001	3.827e-05	0.0002	0	0.0021	3.957e-05	0.0035	0.0545	0.0019	0.0020	0.0010	0.0029	0.0600	0.0018	0.0017	0.0543	0.0521	0.0001	0	0	0	0.0002	0	0	0	0	0.0600	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000493	0.43931	N	0.239919	0.793514	0.29198	N	0.11	0.08516	N	2.64	0.12780	T	3.8	0.00066	N	0.221	0.24758	-0.9536	0.40345	T	0.017	0.06855	T	10	0.004280716	0.00086	T	.	.	.	0.063	0.18251	0.625	0.76028	0.223847106136	0.22009	0.8072162313784973	0.80676	0.19774465149	0.22142	0.309840738773	0.11883	T	0.003442	0.02849	T	-0.632709	0.00092	T	-0.642143	0.09514	T	0.000650241616935696	0.00006	T	0.878012	0.59262	D	0.079382144	0.18133	0.05962705	0.11224	0.079382144	0.18132	0.05962705	0.11223	-4.357	0.28968	T	.	.	0.166	0.36653	B	.	.	0.355082	0.07282	3.886	0.62003030266386105	0.06852	0.22976	0.21925	N	AEFDGBHCI	0.120741	0.23506	N	-0.756391999931643	0.14460	0.7204837	-0.625564516550365	0.18837	1.00806	0.999999999954965	0.74766	0.653496	0.48692	0	0.858003	0.99906	0	0.535252	0.11790	0	0.683535	0.66460	0	.	.	5.57	0.963	0.18769	0.009000	0.13117	-0.510000	0.08751	-0.217000	0.08171	0.978000	0.35038	0.031000	0.21272	0.524000	0.29567	0.2936:0.4213:0.2851:0.0	8.196	0.30556	140	0.94439	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase 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	0.006048	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.026515	0.1	2392.14	39	chr16	30112751	.	C	G	2392.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.751;DP=501;ExcessHet=0.2348;FS=0.519;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.72;SOR=0.641	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1406,0,1525	8	0	2	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	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	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.1	706.14	51	chr16	30525595	.	T	C	706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.484;DP=443;ExcessHet=0.2348;FS=0.811;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=1.04;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,16:40:99:0|1:30525595_T_C:365,0,960:30525595	8	0	2	0
chr16	31076950	31076950	A	C	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.A626C:p.N209T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00563634023875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.91255	D	0.011	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	0.745707	0.33872	D	2.175	0.60977	M	3.1	0.08283	T	-2.25	0.50337	N	0.455	0.49237	-1.0161	0.24980	T	0.042	0.17994	T	9	0.2752136	0.45079	T	0.005636	0.14560	T	0.132	0.35948	0.227	0.15257	0.515259903717	0.51168	0.4050556992899627	0.40421	0.745244495564	0.63480	0.745844304562	0.73833	T	0.03682	0.24246	T	-0.179911	0.23749	T	-0.496206	0.22742	T	0.875014901161194	0.52488	D	0.755524	0.38711	T	0.16358797	0.36510	0.21670878	0.46308	0.16358797	0.36509	0.21670878	0.46307	-3.027	0.10475	T	.	.	0.527	0.68123	A	.;.;.	.;.;.	3.721802	0.53189	23.3	0.99502815887965335	0.68147	0.97429	0.74694	D	AEFDBCI	0.575422	0.57782	D	0.539262164566397	0.69429	5.355856	0.587058056165243	0.74012	6.065137	0.999999470331451	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.92	5.92	0.95557	0.407000	0.20770	.	.	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.347	0.74064	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	967.43	36	chr16	31076950	.	A	C	967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=401;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.492;SOR=0.843	GT:AD:DP:GQ:PL	0/1:46,34:80:99:979,0,1188	9	0	1	0
chr16	31361187	31361187	T	A	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon9:c.T986A:p.L329Q,ITGAX:NM_001286375:exon9:c.T986A:p.L329Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.0801954331762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767778307	6.846e-07	6.84e-07	1.362e-06	0	2.245e-05	0	0	.	.	0	2.245e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99561	0.42773	D	3.89	0.96051	H	-2.13	0.86349	D	-5.64	0.86914	D	0.864	0.86085	0.914	0.95869	D	0.847	0.94891	D	9	0.9698998	0.96560	D	0.080195	0.73405	D	0.808	0.93777	0.854	0.95434	0.915887042927	0.91504	0.9694184572018145	0.96929	0.784066996739	0.65421	0.600350499153	0.52953	T	0.825819	0.95789	D	0.263655	0.79866	D	0.223811	0.84367	D	0.9824352424892	0.74489	D	0.959104	0.84591	D	0.9405396	0.95302	0.877246	0.93369	0.9405396	0.95303	0.877246	0.93370	-15.085	0.96048	D	.	.	0.908	0.83302	P	.;.	.;.	5.076869	0.84710	28.4	0.99608178535918246	0.74634	0.95234	0.63935	D	AEFDBI	0.730370	0.67778	D	0.858466366864706	0.89586	10.03246	0.754053755029323	0.86458	8.89609	0.999999588206404	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.256000	0.72433	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.647	0.56103	287	0.88635	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	.	.	.	.	.	.	.	.	0.05	574.43	33	chr16	31361187	.	T	A	574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=384;ExcessHet=0;FS=3.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.151;SOR=0.639	GT:AD:DP:GQ:PL	0/1:40,26:66:99:586,0,1000	9	0	1	0
chr16	46595649	46595649	G	A	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324319:exon9:c.C1133T:p.T378M,SHCBP1:NM_001324318:exon10:c.C1253T:p.T418M,SHCBP1:NM_024745:exon10:c.C1367T:p.T456M	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0310935631243	.	.	5.781e-05	0	0	0.0002	0	4.507e-05	0	0.0001	4.53e-05	7	154602	rs773704460	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0002	1.933e-05	1.692e-05	2.375e-05	1.43e-05	8.962e-05	0	0	0	0	0.0002	1.529e-05	0.0002	5.8e-05	0.0001	0.0001	0.0002	4.035e-05	0.0008	7.091e-05	5.747e-05	0.0005	0.0004	7.237e-05	0	0.0008	0	0	0	0	1.47e-05	0.0005	0	0.01	0.56456	D	0.04	0.50809	D	0.808	0.45299	P	0.34	0.42389	B	0.009222	0.30456	N	0.376195	0.999998	0.08975	N	1.955	0.52871	M	-1.53	0.81559	D	-2.66	0.56945	D	0.645	0.65673	-0.5052	0.68461	T	0.362	0.72322	T	10	0.5437985	0.63868	D	0.031094	0.53261	D	0.329	0.65126	0.482	0.56302	0.944421479554	0.94383	0.7041827561695405	0.70360	0.309715011128	0.33285	0.569725751877	0.48639	T	0.18153	0.53324	T	-0.103883	0.35782	T	-0.183398	0.56207	T	0.0791323618660946	0.09875	T	0.89721	0.64041	D	0.06994099	0.15364	0.09965288	0.23801	0.06994099	0.15364	0.09965288	0.23800	-5.123	0.38148	T	.	.	0.082	0.08851	B	.	.	2.929142	0.38908	20.8	0.9847039825255326	0.41849	0.20610	0.21104	N	AEFBI	0.092978	0.18818	N	-0.133254279256919	0.35950	2.071532	-0.228897339132752	0.30505	1.718182	0.466271622622559	0.20668	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	1.593000	0.36297	7.007000	0.57217	0.585000	0.30472	0.241000	0.24758	1.000000	0.68203	0.583000	0.30967	0.093:0.0:0.7257:0.1813	6.478	0.21244	376	0.83959	Right handed beta helix domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1688.43	34	chr16	46595649	.	G	A	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.454;DP=427;ExcessHet=0;FS=3.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.69;SOR=0.44	GT:AD:DP:GQ:PL	0/1:48,70:118:99:1700,0,1049	9	0	1	0
chr16	48200470	48200470	G	A	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon14:c.C1888T:p.R630W,ABCC11:NM_001370496:exon15:c.C1888T:p.R630W,ABCC11:NM_001370497:exon15:c.C1888T:p.R630W,ABCC11:NM_032583:exon16:c.C1888T:p.R630W,ABCC11:NM_145186:exon16:c.C1888T:p.R630W	.	0	1518	4	0	0	4	0.00131579	.	.	.	726652	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.594	0.0613049088917	0.0056	0.00259585	0.0040	0.0029	0.0036	0	0.0021	0.0054	0.0058	0.0020	0.0040038	619	154602	rs41282045	0.0054	0.0054	0.0055	0.0053	0.0062	0.0053	0.0053	0.0061	0.0061	0.0027	0.0053	0.0006	7.56e-05	0.0019	0.0012	0.0062	0.0055	0.0021	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0068	0.0064	0.0031	0	0.0080	0.0012	0	0.0015	0.0068	0.0062	0.0066	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.333	0.90584	B	0.061	0.97372	B	0.000016	0.62929	N	0.067924	1	0.81001	D	3.045	0.86684	M	-1.53	0.81559	D	-7.7	0.95634	D	0.442	0.49146	0.018	0.82625	D	0.568	0.84354	D	10	0.02933821	0.01061	T	0.061305	0.68287	D	0.594	0.83857	.	.	0.87763515594	0.87644	0.6762308199441927	0.67562	0.239766953823	0.26521	0.326112896204	0.14347	T	0.717009	0.91972	D	-0.115197	0.33911	T	0.0650577	0.74580	D	0.112282171109764	0.13659	T	0.910809	0.68393	D	0.85933286	0.88035	0.79345155	0.87860	0.85933286	0.88036	0.79345155	0.87860	-8.484	0.64323	D	.	.	0.133	0.28693	B	.;.;.;.	.;.;.;.	3.278626	0.44915	22.0	0.99918377060229635	0.98586	0.86330	0.45589	D	AEFI	0.667907	0.63587	D	0.216599410273947	0.52004	3.37741	0.146981402743337	0.46981	2.93546	0.0446572718013259	0.14621	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	1.19	0.20120	0.958000	0.28825	0.158000	0.15372	0.662000	0.56354	0.978000	0.35038	0.000000	0.08366	0.743000	0.35541	0.1727:0.0:0.5052:0.3221	4.138	0.09645	530	0.73653	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	0.005539	0.035354	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	782.43	38	chr16	48200470	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.691;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.957;SOR=0.679	GT:AD:DP:GQ:PL	0/1:28,31:59:99:794,0,756	9	0	1	0
chr16	53462624	53462624	A	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon11:c.A1529T:p.E510V,RBL2:NM_001323609:exon11:c.A1529T:p.E510V,RBL2:NM_001323610:exon11:c.A1529T:p.E510V,RBL2:NM_001323611:exon11:c.A1307T:p.E436V,RBL2:NM_005611:exon11:c.A1529T:p.E510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.955	0.698021744033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.109126	1	0.81001	D	3.355	0.91145	M	-3.08	0.92560	D	-6.71	0.93060	D	0.987	0.99548	1.020	0.97538	D	0.899	0.96635	D	10	0.98157704	0.98190	D	0.698022	0.97524	D	0.955	0.99221	0.858	0.95662	0.976352431779	0.97609	0.8730617578841169	0.87272	0.906180166241	0.70856	0.533630371094	0.43546	T	0.805702	0.95091	D	0.519561	0.94895	D	0.508537	0.94819	D	0.997274192706533	0.91171	D	0.933207	0.74971	D	0.9087223	0.92176	0.8905836	0.94308	0.9087223	0.92177	0.8905836	0.94308	-15.623	0.97140	D	.	.	0.976	0.90888	P	.;.	.;.	5.149213	0.86240	28.8	0.9880068874977519	0.46445	0.98737	0.86207	D	AEFDBI	0.887082	0.81904	D	0.943380040545503	0.93717	12.22811	0.890194858102133	0.95132	13.33905	0.999999596435209	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	8.054000	0.89239	11.102000	0.86142	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.146	0.81381	440	0.80101	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	830.43	34	chr16	53462624	.	A	T	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.972;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.003;SOR=0.606	GT:AD:DP:GQ:PL	0/1:39,37:76:99:842,0,943	9	0	1	0
chr16	58680098	58680098	T	C	exonic	SLC38A7	.	nonsynonymous SNV	SLC38A7:NM_001308384:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369609:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369611:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369608:exon3:c.A29G:p.Y10C,SLC38A7:NM_001369610:exon3:c.A29G:p.Y10C,SLC38A7:NM_018231:exon3:c.A29G:p.Y10C	.	430	1087	5	0	0	5	0.00229463	.	.	.	726722	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0002	0.00638978	0.0050	9.98e-05	0.0107	0.0115	0.0288	0.0020	0.0091	0.0007	0.003978	615	154602	rs151075190	0.0019	0.0020	0.0019	0.0019	0.0106	0.0019	0.0018	0.0097	0.0094	0	0.0106	0	0.0091	0.0287	0	0.0003	0.0020	0.0007	0.0033	0.0033	0.0023	0.0044	0.0133	0.0031	0.0030	0.0108	0.0099	2.405e-05	0	0.0050	0	0.0133	0.0268	0	0.0010	0.0019	0.0015	0.083	0.56456	T	0.169	0.34959	T	0.187	0.29285	B	0.042	0.24114	B	0.775231	0.06621	N	1.099490	1	0.08975	N	1.935	0.51832	L	2.94	0.35405	T	0.04	0.31375	N	0.236	0.36254	-0.9644	0.38330	T	0.012	0.04558	T	9	0.0024581552	0.00037	T	.	.	.	0.041	0.10877	.	.	0.280181792013	0.27631	0.4050142347051937	0.40417	0.455770394439	0.45246	0.339849948883	0.16416	T	0.007995	0.07364	T	-0.48182	0.00722	T	-0.455482	0.27092	T	0.0178480891042658	0.00513	T	0.816718	0.47377	T	0.058463123	0.11763	0.038082734	0.03600	0.058463123	0.11763	0.038082734	0.03600	-3.508	0.16543	T	.	.	0.072	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	1.752248	0.22289	15.56	0.98803772818468916	0.46493	0.66587	0.33130	D	AEFDGBI	.	.	.	-0.572137166162692	0.19794	1.038792	-0.580259844611699	0.20008	1.076068	0.674971956206263	0.22416	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	2.28	0.27583	1.341000	0.33512	1.920000	0.29703	0.660000	0.55035	0.906000	0.31575	0.960000	0.29291	0.474000	0.28430	0.1381:0.0:0.1314:0.7305	7.751	0.28062	509	0.75304	.;.;.;.;.;.	.	.	.	.	rs151075190	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	793.43	37	chr16	58680098	.	T	C	793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.821;SOR=0.693	GT:AD:DP:GQ:PL	0/1:33,33:66:99:805,0,880	9	0	1	0
chr16	66734304	66734304	G	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon5:c.C476T:p.A159V,DYNC1LI2:NM_001323955:exon5:c.C590T:p.A197V,DYNC1LI2:NM_006141:exon6:c.C707T:p.A236V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.014322145159	0.0004	0.00119808	0.0003	0.0024	0.0003	0	0	7.644e-05	0	6.285e-05	0.0002587	40	154602	rs138998809	5.815e-05	5.883e-05	6.943e-05	4.676e-05	0.0012	4.81e-05	4.432e-05	0.0009	0.0008	0.0012	0.0002	0	0	1.873e-05	0	1.529e-05	0.0003	2.32e-05	0.0006	0.0006	0.0005	0.0007	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0004	0	0	0	0	1.47e-05	0	0	0.493	0.08891	T	0.497	0.11299	T	0.995	0.67487	D	0.914	0.64984	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	1.61	0.28391	T	-1.58	0.38151	N	0.84	0.83678	-0.9527	0.40503	T	0.172	0.51421	T	10	0.05246198	0.05283	T	0.014322	0.34357	T	0.226	0.52472	.	.	0.68767428264	0.68500	0.5791528764675137	0.57844	0.879070115435	0.69703	0.749772906303	0.74413	T	0.050349	0.28569	T	-0.210536	0.19303	T	-0.0824604	0.64724	T	0.0671864763053135	0.08250	T	0.905309	0.67067	D	0.41397437	0.61688	0.17208134	0.39436	0.41397437	0.61689	0.17208134	0.39435	-7.958	0.60783	D	.	.	0.164	0.47393	B	.;.;.	.;.;.	5.247094	0.88089	29.5	0.99872766849610162	0.94989	0.98170	0.80208	D	AEFDBCI	0.902913	0.85137	D	0.677414358852762	0.78153	6.814403	0.666154589189166	0.79821	7.16356	0.999999999997675	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.99	4.99	0.65942	10.003000	0.99689	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:1.0:0.0	18.88	0.92323	154	0.93967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	799.43	42	chr16	66734304	.	G	A	799.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=407;ExcessHet=0;FS=1.753;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.93;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,36:91:99:811,0,1326	9	0	1	0
chr16	66755044	66755044	G	A	exonic	TERB1	.	nonsynonymous SNV	TERB1:NM_001136505:exon19:c.C2116T:p.R706W	.	431	1070	21	0	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0990114348706	.	0.00139776	0.0020	0	0.0024	0	0	0.0016	0	0.0030	0.0003687	57	154602	rs200191895	0.0009	0.0008	0.0008	0.0010	0.0035	0.0008	0.0008	0.0031	0.0030	0.0001	0.0011	0.0025	0	0.0001	0.0033	0.0007	0.0013	0.0035	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0016	0.0013	0.0002	0	0.0015	0.0017	0.0004	0.0002	0	0.0009	0.0028	0.0027	.	.	.	0.0	0.92824	D	0.804	0.45171	P	0.244	0.38795	B	.	.	.	.	0.945505	0.81001	D	2.65	0.77586	M	-0.01	0.62762	T	.	.	.	0.915	0.91736	-0.7112	0.59893	T	0.196	0.55100	T	9	0.063039124	0.08152	T	0.099011	0.77036	D	0.340	0.66202	.	.	0.632468194898	0.62945	0.8632737748027692	0.86291	.	.	0.436707556248	0.30127	T	0.046743	0.27515	T	-0.144685	0.29145	T	0.0169721	0.71435	D	0.0380087372379942	0.03334	T	0.906209	0.66975	D	0.12773815	0.29883	0.19236793	0.42747	0.12773815	0.29883	0.19236793	0.42746	-13.416	0.91004	D	.	.	0.558	0.67132	A	.;.	.;.	3.666294	0.52110	23.2	0.9401128398898142	0.24113	0.41925	0.26765	N	AEFDBHCI	0.372404	0.45806	N	0.109644642783173	0.46912	2.924414	0.10288310517962	0.44696	2.746361	0.999644148923686	0.41316	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.76	0.895	0.18380	0.258000	0.18156	2.010000	0.30161	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.929000	0.46594	0.084:0.0:0.2612:0.6547	8.173	0.30425	67	0.97183	SANT/Myb domain|SANT/Myb domain;SANT/Myb domain|SANT/Myb domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.000000	0.05	274.43	33	chr16	66755044	.	G	A	274.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.191;DP=317;ExcessHet=0;FS=1.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-1.551;SOR=0.645	GT:AD:DP:GQ:PL	0/1:25,15:40:99:286,0,618	9	0	1	0
chr16	67280224	67280224	G	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon1:c.G180T:p.E60D,PLEKHG4:NM_001129728:exon2:c.G180T:p.E60D,PLEKHG4:NM_001129729:exon2:c.G180T:p.E60D,PLEKHG4:NM_001129727:exon3:c.G180T:p.E60D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00392399736175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.24183	T	0.829	0.07691	T	0.007	0.14184	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.0	0.09356	T	0.37	0.15379	N	0.099	0.10340	-0.9395	0.42695	T	0.016	0.06664	T	9	0.049572855	0.04567	T	0.003924	0.09242	T	0.025	0.05312	0.071	0.00418	0.237489013734	0.23353	0.07627829696260831	0.07563	0.240294816583	0.26575	0.354922652245	0.18644	T	0.01263	0.19900	T	-0.294814	0.09159	T	-0.661257	0.08182	T	0.0605525633088685	0.07255	T	0.639136	0.25296	T	0.045333166	0.07402	0.045889445	0.06274	0.045333166	0.07401	0.045889445	0.06274	-3.471	0.16713	T	.	.	0.071	0.10400	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.798412	0.11688	8.271	0.95249891704369249	0.26504	0.09029	0.14865	N	AEFDGBI	0.077126	0.15532	N	-0.976543398578974	0.09106	0.4296346	-0.996784135009338	0.09857	0.4928906	0.999990191912078	0.74766	0.676563	0.55306	0	0.55458	0.17659	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.73	1.54	0.22290	1.196000	0.31807	1.920000	0.29703	0.602000	0.45918	0.009000	0.18154	0.955000	0.29136	0.038000	0.14061	0.0:0.2052:0.5837:0.2112	6.242	0.20008	23	0.98420	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	834.43	40	chr16	67280224	.	G	T	834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.418;DP=421;ExcessHet=0;FS=1.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.4;SOR=0.67	GT:AD:DP:GQ:PL	0/1:44,34:78:99:846,0,1157	9	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	66.61	151	chr16	68828281	.	G	C	66.61	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.294;DP=1213;ExcessHet=0.7463;FS=192.644;InbreedingCoeff=-0.3149;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=0.39;SOR=9.419	GT:AD:DP:GQ:PL	0/1:92,29:121:52:52,0,1484	3	0	3	4
chr16	81117382	81117382	G	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.389e-05	0	0	0	0	1.532e-05	0	0.0002	2.59e-05	4	154602	rs921590986	3.015e-05	3.078e-05	1.772e-05	4.271e-05	0.0007	2.285e-05	2.035e-05	0.0002	0.0001	0	6.76e-05	0	0	0	0.0007	1.26e-05	6.639e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	409.43	35	chr16	81117382	.	G	T	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.451;DP=367;ExcessHet=0;FS=2.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=1.16;SOR=1.127	GT:AD:DP:GQ:PL	0/1:38,18:56:99:421,0,999	9	0	1	0
chr16	86552196	86552196	G	A	exonic	MTHFSD	.	nonsynonymous SNV	MTHFSD:NM_001159378:exon3:c.C220T:p.R74C,MTHFSD:NM_001159379:exon3:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0712965614752	.	.	2.528e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767847970	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0002	1.238e-05	1.052e-05	0.0001	0.0001	0	0	0	2.519e-05	0	0	5.396e-06	0	0.0002	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.88	0.46028	T	-7.13	0.95366	D	0.704	0.71143	-0.3889	0.72377	T	0.224	0.58856	T	9	0.79639137	0.79108	D	0.071297	0.71233	D	0.391	0.70684	.	.	0.698870113343	0.69627	.	.	.	.	0.513438403606	0.40704	T	0.426218	0.82212	T	-0.187465	0.22630	T	-0.247378	0.50076	T	0.515599846839905	0.33203	D	0.867613	0.60854	D	.	.	.	.	.	.	.	.	-11.923	0.84473	D	.	.	0.605	0.73980	P	.;.;.;.	.;.;.;.	2.873055	0.37996	20.6	0.99918182604276173	0.98586	0.98534	0.83810	D	AEFBI	0.905489	0.85707	D	0.669226680842934	0.77617	6.709469	0.622878872725212	0.76605	6.521911	0.999996477284352	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.408882	0.06424	0	0.635551	0.53088	0	.	.	5.93	4.88	0.63131	7.144000	0.76943	4.395000	0.43227	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0787:0.0:0.9213:0.0	13.788	0.62612	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	.	.	.	.	.	.	.	.	0.05	1754.43	35	chr16	86552196	.	G	A	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.42;DP=490;ExcessHet=0;FS=1.287;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.493;SOR=0.808	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1766,0,1967	9	0	1	0
chr16	88432422	88432422	A	G	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.A4952G:p.Q1651R	Brittle cornea syndrome 1, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	192280	Cardiovascular_phenotype|not_provided|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.004	0.159296427236	.	.	0.0004	0	0	0	0	0.0007	0.0063	0.0003	5.82e-05	9	154602	rs773925755	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0059	0.0053	0.0002	0.0007	0.0031	0	0	0.0077	0.0003	0.0011	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0012	0	0	0.0068	0.0003	0.0005	0.0006	0.486	0.08091	T	0.211	0.26631	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.28	0.11547	N	0.029	0.02272	-0.9424	0.42234	T	0.007	0.02558	T	9	0.018613935	0.00407	T	0.159296	0.83953	D	0.004	0.00165	.	.	0.15556083564	0.15200	0.23828793486895608	0.23742	.	.	0.261016577482	0.05013	T	0.01143	0.10197	T	-0.664458	0.00059	T	-0.825782	0.01339	T	0.00135794444940984	0.00013	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	-1.103645	0.00636	0.017	0.43578238770904026	0.03290	0.03014	0.07887	N	AEFDBI	0.087573	0.17757	N	-1.52929385133207	0.01660	0.07259991	-1.65009968223497	0.01375	0.0621263	0.999741137325267	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.19	-8.38	0.00851	-0.724000	0.05050	-2.177000	0.04100	-0.351000	0.05566	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3759:0.2506:0.0942:0.2793	1.084	0.01545	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014607	0.026667	0.032110	0.009091	0.000000	0.000000	0.000000	0.000000	0.05	2333.43	85	chr16	88432422	.	A	G	2333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.214;DP=798;ExcessHet=0;FS=2.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.679;SOR=0.597	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2345,0,2399	9	0	1	0
chr16	89770246	89770246	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon25:c.G2236T:p.A746S,FANCA:NM_001286167:exon25:c.G2236T:p.A746S	Fanconi anemia, complementation group A, Autosomal recessive	2	1513	7	0	0	7	0.00230795	.	.	YES	342977	Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.374	0.101411964741	.	0.000399361	0.0013	0	0.0009	0	0	0.0002	0	0.0044	0.0003816	59	154602	rs575108446	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	2.584e-05	0	0	0	0.0018	5.663e-05	0.0003	0.0032	0.0002	0.0002	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.407e-05	0.0088	0	0	0	0	0	8.822e-05	0	0.0046	0.094	0.34800	T	0.368	0.17640	T	0.991	0.64070	D	0.734	0.55432	P	0.006820	0.31785	N	0.258804	0.931221	0.27052	N	2.595	0.75868	M	-2.03	0.85613	D	-1.58	0.38151	N	0.507	0.57604	0.226	0.86353	D	0.641	0.87442	D	10	0.017692685	0.00379	T	0.101412	0.77427	D	0.374	0.69273	.	.	0.848377370426	0.84692	0.18838922495874405	0.18756	.	.	0.439378619194	0.30491	T	0.360636	0.72685	T	-0.276577	0.11034	T	-0.172482	0.57216	T	0.0988314533091084	0.12228	T	0.858114	0.57479	D	0.1316803	0.30686	0.091280915	0.21453	0.10534849	0.24908	0.09300635	0.21946	-5.255	0.43255	T	0.8429165523238975	0.91100	0.240	0.47912	B	.;.	.;.	4.078100	0.60640	24.2	0.99523908714592113	0.69407	0.90058	0.50943	D	AEFDBI	0.154209	0.27920	N	0.415953226182305	0.62299	4.443546	0.354177331739331	0.58759	4.04856	0.854307646848187	0.25103	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.79	3.75	0.42236	1.251000	0.32465	6.028000	0.52885	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.442000	0.27716	0.0:0.7322:0.2678:0.0	10.004	0.41118	671	0.60868	.;.	.	.	.	.	.	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	0.004128	0.000000	0.002740	0.006098	0.000000	0.008621	0.003205	0.007634	0.05	942.43	34	chr16	89770246	.	C	A	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.456;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.116;SOR=0.697	GT:AD:DP:GQ:PL	0/1:41,41:82:99:954,0,977	9	0	1	0
chr16	89779944	89779944	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon18:c.C1640T:p.A547V,FANCA:NM_001286167:exon18:c.C1640T:p.A547V	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1335130	Fanconi_anemia|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.312192026379	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs550821697	6.909e-05	6.909e-05	2.995e-05	0.0001	0.0012	5.78e-05	5.391e-05	0.0010	0.0009	0	0	0	0	0	0	0	1.656e-05	0.0012	5.255e-05	5.253e-05	1.284e-05	9.412e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	0.999881	0.50402	D	2.865	0.83145	M	-2.28	0.87591	D	-3.02	0.62630	D	0.769	0.79696	0.739	0.93653	D	0.793	0.92990	D	10	0.5747272	0.65515	D	0.312192	0.91219	D	0.589	0.83582	0.171	0.07655	0.961536280717	0.96112	0.5549498151830777	0.55421	.	.	0.472491562366	0.35023	T	0.588592	0.86637	D	0.103113	0.64627	D	0.318991	0.89048	D	0.582085132598877	0.35699	D	0.908809	0.73262	D	0.3115217	0.53917	0.32437226	0.58362	0.3115217	0.53918	0.32437226	0.58361	-10.966	0.80365	D	0.5848694286794677	0.65167	0.310	0.53755	B	.;.	.;.	4.316021	0.66020	24.9	0.99869804375651328	0.94726	0.98189	0.80377	D	AEFBI	0.722484	0.67240	D	0.6016340963063	0.73278	5.940077	0.478811205389212	0.66588	4.971669	0.999999714183396	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.488000	0.80254	11.600000	0.93469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:0.0:1.0:0.0	17.731	0.88285	620	0.66037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1029.43	33	chr16	89779944	.	G	A	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=388;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=2.21;SOR=0.972	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1041,0,903	9	0	1	0
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R,DEF8:NM_001242819:exon12:c.A1265G:p.Q422R,DEF8:NM_001242816:exon13:c.A1286G:p.Q429R,DEF8:NM_001242818:exon13:c.A1316G:p.Q439R,DEF8:NM_207514:exon13:c.A1499G:p.Q500R,DEF8:NM_001242820:exon14:c.A1316G:p.Q439R	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	633	0.64743	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003049	0.007576	0.05	751.43	33	chr16	89965923	.	A	G	751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.228;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=1.16;SOR=0.654	GT:AD:DP:GQ:PL	0/1:46,36:82:99:763,0,1206	9	0	1	0
chr17	3695911	3695911	A	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204519:exon1:c.T95A:p.L32Q,P2RX5:NM_001204520:exon1:c.T95A:p.L32Q,P2RX5:NM_002561:exon1:c.T95A:p.L32Q,P2RX5:NM_175080:exon1:c.T95A:p.L32Q	.	396	1117	9	0	0	9	0.00401248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.236888456295	0.0045	0.00159744	0.0041	0.0017	0.0042	0	0.0006	0.0062	0.0067	0.0007	0.0040426	625	154602	rs142863822	0.0055	0.0055	0.0056	0.0053	0.0161	0.0054	0.0053	0.0135	0.0125	0.0014	0.0040	0.0218	2.519e-05	0.0003	0.0161	0.0060	0.0074	0.0005	0.0038	0.0038	0.0042	0.0033	0.0053	0.0035	0.0034	0.0049	0.0047	0.0016	0	0.0031	0.0210	0.0002	0.0005	0.0102	0.0053	0.0061	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999993	0.58761	D	3.17	0.88688	M	3.35	0.05989	T	-4.15	0.77308	D	0.898	0.89800	-1.1045	0.03588	T	0.048	0.20315	T	9	0.0128594935	0.00275	T	0.236888	0.88519	D	0.468	0.76289	.	.	0.492200611407	0.48855	0.6062517246499286	0.60556	0.619650878989	0.56302	0.537075996399	0.44032	T	0.216573	0.57878	T	-0.0943812	0.37351	T	0.093156	0.76456	D	0.0342277089542724	0.02675	T	0.906109	0.77539	D	0.75578994	0.81206	0.72901064	0.83989	0.75578994	0.81207	0.72901064	0.83990	-11.306	0.82848	D	.	.	0.533	0.76268	A	.;.;.;.;.	.;.;.;.;.	4.856198	0.79421	27.1	0.99521544950057794	0.69284	0.53590	0.29409	D	ALL	0.938104	0.93683	D	0.608941124306516	0.73738	6.015681	0.470581582995615	0.66050	4.901765	0.999999999999993	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.33	3.33	0.37245	8.546000	0.90465	10.738000	0.83653	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	1.0:0.0:0.0:0.0	11.333	0.48723	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020161	0.015152	0.021739	0.035088	0.000000	0.034483	0.006135	0.007576	0.05	1645.43	36	chr17	3695911	.	A	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.186;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.708;SOR=0.725	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1657,0,1072	9	0	1	0
chr17	4552616	4552616	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon6:c.C572T:p.A191V,MYBBP1A:NM_014520:exon6:c.C572T:p.A191V	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0118972905183	0.0005	0.000998403	0.0012	0.0003	0.0010	0	0	0.0011	0.0011	0.0034	0.0010931	169	154602	rs138754898	0.0008	0.0008	0.0006	0.0009	0.0157	0.0007	0.0007	0.0131	0.0121	0.0001	0.0007	0.0091	2.52e-05	0	0.0157	0.0003	0.0015	0.0030	0.0008	0.0008	0.0008	0.0009	0.0035	0.0007	0.0007	0.0022	0.0018	2.406e-05	0	0.0018	0.0104	0.0002	0	0.0034	0.0006	0.0014	0.0035	0.084	0.32929	T	0.045	0.49390	D	0.012	0.17086	B	0.009	0.17295	B	0.109271	0.19492	N	0.575167	1	0.08975	N	1.83	0.48079	L	0.97	0.42502	T	-1.49	0.36385	N	0.239	0.26957	-1.0272	0.21363	T	0.090	0.34573	T	10	0.0059212744	0.00133	T	0.011897	0.29978	T	0.067	0.19503	.	.	0.568572517066	0.56521	0.1526008540299817	0.15182	.	.	0.278889238834	0.07337	T	0.031852	0.22228	T	-0.458036	0.01011	T	-0.433134	0.29580	T	0.0108225124619509	0.00154	T	0.685131	0.29365	T	0.047382046	0.08088	0.048845947	0.07339	0.047382046	0.08088	0.048845947	0.07339	-5.277	0.39714	T	.	.	0.098	0.16054	B	.;.	.;.	1.638907	0.20919	14.97	0.98605821018212869	0.43572	0.75451	0.36943	D	AEFBCI	0.162185	0.28833	N	-0.441738241851715	0.24021	1.294126	-0.399210175550988	0.25021	1.373542	0.999548813669669	0.40300	0.719381	0.83141	0	0.723133	0.82719	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	3.76	0.42368	3.251000	0.51154	5.076000	0.47223	0.654000	0.53741	0.911000	0.31706	0.977000	0.30130	0.008000	0.08271	0.0776:0.0:0.7712:0.1512	8.593	0.32858	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.008152	0.029240	0.000000	0.000000	0.003049	0.003788	0.05	598.43	37	chr17	4552616	.	G	A	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.346;DP=371;ExcessHet=0;FS=1.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.808;SOR=0.489	GT:AD:DP:GQ:PL	0/1:21,24:45:99:610,0,600	9	0	1	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X,MYBBP1A:NM_014520:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	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	5651.32	133	chr17	4555303	.	G	A	5651.32	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.369;DP=751;ExcessHet=2.8389;FS=1.107;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.554;SOR=0.771	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1109,0,1333	9	0	1	0
chr17	4559354	4559354	G	T	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_001122890:exon3:c.C428A:p.A143D,GGT6:NM_001288702:exon3:c.C446A:p.A149D,GGT6:NM_001288703:exon3:c.C428A:p.A143D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0131299137896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924122939	5.719e-06	6.156e-06	2.821e-06	8.696e-06	0.0007	2.46e-06	1.78e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.854e-06	3.448e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.038	0.51421	D	0.846	0.46778	P	0.363	0.43280	B	0.411905	0.12985	N	0.730506	0.982553	0.45755	D	3.075	0.87202	M	3.2	0.07236	T	.	.	.	0.791	0.78737	-1.0394	0.17495	T	0.026	0.11353	T	10	0.8338195	0.82540	D	0.01313	0.32289	T	0.240	0.54500	0.856	0.95547	0.488337271218	0.48467	0.737328465584794	0.73677	0.402927746685	0.41237	0.519193768501	0.41513	T	0.005599	0.05051	T	-0.0842154	0.39028	T	-0.358746	0.38198	T	0.750708699226379	0.43324	D	0.90121	0.65680	D	0.14641279	0.33518	0.1431635	0.34033	0.14641279	0.33518	0.1431635	0.34032	-7.108	0.54818	T	.	.	0.370	0.61083	A	.;.;.	.;.;.	3.679886	0.52371	23.2	0.99575684748421844	0.72682	0.21169	0.21306	N	AEFDBI	0.124507	0.24059	N	0.154993074601818	0.49049	3.109689	0.118056553088479	0.45473	2.809804	0.998992258721176	0.38161	0.486886	0.10167	0	0.547309	0.14657	0	0.578056	0.29568	0	0.478617	0.07155	0	.	.	5.07	1.84	0.24348	1.605000	0.36426	6.577000	0.55985	0.676000	0.76740	0.916000	0.31843	1.000000	0.68203	0.910000	0.44547	0.2044:0.0:0.5998:0.1958	3.672	0.07814	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002903	0.005102	0.002513	0.000000	0.000000	0.013889	0.004032	0.000000	0.05	1307.43	34	chr17	4559354	.	G	T	1307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.523;DP=447;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.509;SOR=0.809	GT:AD:DP:GQ:PL	0/1:79,54:133:99:1319,0,2077	9	0	1	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,92:167:99:0|1:4933907_ACCACCCCAGAGCCCAC_A:3009,0,2824:4933907	1	5	3	1
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	522.45	140	chr17	6707135	.	T	C	522.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.368;DP=1058;ExcessHet=0.7463;FS=128.46;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.637;SOR=9.657	GT:AD:DP:GQ:PL	0/1:126,37:163:81:81,0,3403	7	0	3	0
chr17	7389019	7389019	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon13:c.C1936A:p.R646S,TNK1:NM_003985:exon13:c.C1921A:p.R641S	.	427	1094	1	0	0	1	0.00045683	.	.	.	2273792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.0430231825688	8.2e-05	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs375240414	4.278e-05	4.72e-05	3.238e-05	5.346e-05	0.0003	3.382e-05	3.043e-05	0.0002	0.0002	3.149e-05	0	0	0	0	0	3.054e-05	5.158e-05	0.0003	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.939e-05	0	0.0002	.	.	.	0.013	0.63109	D	0.141	0.27581	B	0.046	0.24676	B	0.340447	0.13971	N	0.635768	0.993519	0.23698	N	1.81	0.47622	L	-1.06	0.76819	T	.	.	.	0.194	0.21319	-0.7130	0.59805	T	0.329	0.69707	T	10	0.069713116	0.10041	T	0.043023	0.60770	D	.	.	.	.	0.775072296251	0.77300	0.2979536132619248	0.29708	0.210131293866	0.23496	0.260749727488	0.04981	T	0.145516	0.48268	T	-0.0326326	0.47034	T	-0.284651	0.46326	T	0.0529024936258793	0.06003	T	.	.	.	0.10378972	0.24534	0.10158465	0.24324	0.10378972	0.24533	0.10158465	0.24324	-7.335	0.56869	T	.	.	0.315	0.54108	B	.;.	.;.	3.307825	0.45438	22.1	0.98688000953371757	0.44723	0.28300	0.23516	N	AEFBI	0.131844	0.25093	N	-0.501827620405223	0.22021	1.172918	-0.429260648443221	0.24142	1.320434	0.953931397997563	0.28102	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	3.71	0.41733	1.250000	0.32453	3.300000	0.37375	-0.223000	0.07921	0.062000	0.21832	1.000000	0.68203	0.958000	0.51230	0.1438:0.7788:0.0:0.0774	9.290	0.36943	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	972.43	44	chr17	7389019	.	C	A	972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.674;DP=446;ExcessHet=0;FS=1.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.845;SOR=1.053	GT:AD:DP:GQ:PL	0/1:39,39:78:99:984,0,907	9	0	1	0
chr17	10395357	10395357	C	T	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon34:c.G4738A:p.A1580T	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	327079	Hecht_syndrome	MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0161953350481	.	0.000199681	5.766e-05	0	8.637e-05	0	0	8.991e-05	0	0	6.47e-05	10	154602	rs181695343	7.867e-05	7.867e-05	6.262e-05	9.488e-05	0.0003	6.666e-05	6.201e-05	7.281e-05	5.824e-05	0	0.0002	7.652e-05	0.0002	0	0.0003	7.644e-05	8.279e-05	9.275e-05	0.0001	0.0001	8.996e-05	0.0001	0.0008	7.089e-05	5.746e-05	0.0005	0.0004	2.406e-05	0	0.0008	0	0.0004	0	0	2.941e-05	0	0	0.072	0.34982	T	0.209	0.26798	T	0.072	0.23997	B	0.036	0.22909	B	0.000885	0.41231	U	0.000000	0.999132	0.46149	D	2.26	0.64354	M	-1.26	0.79176	T	-2.06	0.47175	N	0.172	0.18376	-0.6016	0.64751	T	0.333	0.70035	T	10	0.14703086	0.27866	T	0.016195	0.37339	T	0.235	0.53788	.	.	0.703776758705	0.70120	0.121072828033133	0.12034	0.571743605247	0.53290	0.493223845959	0.37885	T	0.519828	0.83187	D	-0.301449	0.08523	T	-0.401488	0.33211	T	0.0581474690342337	0.06873	T	0.822818	0.48291	T	0.07645856	0.17292	0.12842607	0.30897	0.07645856	0.17291	0.12842607	0.30896	-8.142	0.62033	D	0.3687841192697082	0.46452	0.092	0.13409	B	.	.	2.920251	0.38767	20.8	0.99824338669766621	0.90677	0.91968	0.54654	D	AEFBI	0.414740	0.48388	N	-0.180944369769539	0.33929	1.930577	-0.0934997833114411	0.35658	2.065624	0.00708187691954142	0.11381	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	2.82	0.32061	3.181000	0.50603	1.771000	0.28634	0.599000	0.40250	0.994000	0.38300	0.925000	0.28409	0.930000	0.46718	0.142:0.7837:0.0:0.0743	9.539	0.38405	62	0.97349	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1843.43	33	chr17	10395357	.	C	T	1843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=487;ExcessHet=0;FS=1.223;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.515;SOR=0.575	GT:AD:DP:GQ:PL	0/1:96,75:171:99:1855,0,2327	9	0	1	0
chr17	16727660	16727660	T	A	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon9:c.T2025A:p.N675K,CCDC144A:NM_014695:exon9:c.T2025A:p.N675K	.	.	.	.	.	.	.	.	.	.	.	3302976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00146830154849	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762948246	6.457e-06	6.166e-06	7.155e-06	5.754e-06	0.0003	3.04e-06	2.2e-06	2.04e-06	1.34e-06	0	0	0	0	0	0.0003	5.663e-06	3.466e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	.	.	.	2.39	0.15724	T	2.55	0.00222	N	0.114	0.13626	-0.9523	0.40573	T	0.012	0.04653	T	8	0.033891052	0.01578	T	0.001468	0.02241	T	0.006	0.00375	0.326	0.30873	0.0138822411134	0.00435	0.010282390760649423	0.00989	.	.	0.74387460947	0.73542	T	0.001123	0.00635	T	-0.398144	0.02381	T	-0.809683	0.01672	T	0.0557897101063128	0.06489	T	0.0322968	0.00278	T	0.027251089	0.01890	0.042220026	0.04980	0.027251089	0.01890	0.042220026	0.04979	1.673	0.00070	T	.	.	0.177	0.38640	B	.;.;.	.;.;.	-0.506886	0.01845	0.148	0.13544600045209676	0.00270	0.00638	0.02794	N	AEFI	0.026523	0.02006	N	-1.61445979069732	0.01194	0.05190342	-1.65304280462181	0.01360	0.06142503	5.22740426462124E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.08	-3.36	0.04606	-0.084000	0.11233	-1.313000	0.05742	-2.843000	0.00175	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5652:0.0:0.2319:0.2028	3.443	0.07041	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	535.43	38	chr17	16727660	.	T	A	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=333;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.19;MQRankSum=-1.414;QD=11.9;ReadPosRankSum=0.08;SOR=0.686	GT:AD:DP:GQ:PL	0/1:24,21:45:99:547,0,624	9	0	1	0
chr17	16940392	16940394	TCT	-	exonic	TNFRSF13B	.	nonframeshift deletion	TNFRSF13B:NM_012452:exon4:c.563_565del:p.K188del	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	1	1520	1	0	0	1	0.000328839	.	.	.	530603	TNFRSF13B-related_disorder|Immunodeficiency,_common_variable,_2	.|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0020	0	0	0.0001	0	4.51e-05	0	0.0145	0.0006916	18	26028	rs376630110	0.0008	0.0008	0.0005	0.0012	0.0132	0.0008	0.0008	0.0126	0.0123	0	2.236e-05	0	2.519e-05	0	0.0033	4.496e-06	0.0009	0.0132	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	2.405e-05	0	0	0	0	0	0	0	0.0014	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	978.39	33	chr17	16940391	.	CTCT	C	978.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.267;DP=367;ExcessHet=0;FS=3.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=-0.481;SOR=1.182	GT:AD:DP:GQ:PL	0/1:27,26:53:99:990,0,1046	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	0/1:35,25:60:99:616,0,919	8	0	2	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.1	7116.14	33	chr17	27647035	.	G	T	7116.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.86;DP=932;ExcessHet=0.2348;FS=1.107;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.623;SOR=0.791	GT:AD:DP:GQ:PL	0/1:182,137:319:99:3399,0,4507	8	0	2	0
chr17	28613589	28613589	G	A	exonic	RSKR	.	nonsynonymous SNV	RSKR:NM_001174103:exon2:c.C175T:p.R59W	.	439	1063	20	0	0	20	0.00931966	.	.	.	3316818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0231398134118	0.0007	0.000798722	0.0012	0	0.0007	0	0	0.0013	0.0033	0.0025	0.0010543	163	154602	rs145445550	0.0008	0.0008	0.0007	0.0009	0.0137	0.0008	0.0007	0.0113	0.0104	5.974e-05	0.0007	0.0085	0	1.872e-05	0.0137	0.0004	0.0018	0.0031	0.0007	0.0007	0.0007	0.0007	0.0041	0.0006	0.0006	0.0027	0.0023	9.629e-05	0	0.0005	0.0078	0	9.43e-05	0.0068	0.0007	0.0009	0.0041	0.057	0.43085	T	0.065	0.47581	T	.	.	.	.	.	.	0.851461	0.08959	N	0.923487	1	0.08975	N	.	.	.	-0.46	0.70014	T	-1.79	0.42191	N	0.286	0.33796	-0.9620	0.38800	T	0.156	0.48841	T	10	0.004371971	0.00089	T	0.02314	0.46083	T	0.038	0.09825	.	.	0.451599300725	0.44785	0.46210463325628254	0.46128	0.0916761220119	0.10349	.	.	.	.	.	.	-0.369602	0.03614	T	-0.307988	0.43875	T	0.0149468605264926	0.00319	T	0.711229	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26138	B	.;.;.;.;.	.;.;.;.;.	2.424130	0.31176	18.66	0.94354184642090078	0.24707	0.14794	0.18588	N	AEFDGBHCI	0.235967	0.35848	N	-0.804347519278457	0.13198	0.648553	-0.801302666700953	0.14464	0.7558717	0.985928176138972	0.30973	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.0	1.78	0.23918	1.841000	0.38881	1.466000	0.26718	0.676000	0.76740	0.064000	0.21895	0.002000	0.18203	0.564000	0.30507	0.1698:0.0:0.674:0.1562	5.661	0.16945	224	0.91330	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	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	0.010870	0.014620	0.000000	0.008621	0.006098	0.007576	0.05	1664.43	35	chr17	28613589	.	G	A	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=453;ExcessHet=0;FS=1.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.386;SOR=0.83	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1676,0,1625	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	0/1:27,49:76:99:860,0,235	0	0	10	0
chr17	38730405	38730405	G	C	exonic	CISD3	.	nonsynonymous SNV	CISD3:NM_001136498:exon1:c.G47C:p.R16P	.	487	1033	2	0	0	2	0.000967118	0.0010	0.008	.	2376341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00713989975982	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs535247574	0.0001	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0038	0.0036	0	0	0	0	0	0.0014	1.538e-05	0.0007	0.0046	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	2.955e-05	0	0.0054	.	.	.	0.154	0.32040	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.139	0.13769	-1.0286	0.20908	T	0.053	0.22423	T	8	0.010851592	0.00240	T	0.00714	0.18924	T	.	.	0.29	0.25081	0.0986583533028	0.09354	0.3821550060478252	0.38130	.	.	0.478506267071	0.35851	T	8.14E-4	0.00397	T	-0.193561	0.21737	T	-0.515814	0.20720	T	0.0583147226554417	0.06900	T	.	.	.	0.5977935	0.72572	0.5850668	0.75939	0.5977935	0.72574	0.5850668	0.75940	-3.743	0.19955	T	.	.	0.103	0.18331	B	.	.	1.452964	0.18743	13.90	0.74136522411661965	0.10583	0.18169	0.20148	N	AEFGBHCIJ	0.560662	0.56897	D	-0.978848937648243	0.09056	0.4270533	-0.976253448642809	0.10320	0.51902	0.999999999597128	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	3.16	1.03	0.19161	0.868000	0.27635	0.935000	0.22809	0.505000	0.23025	0.522000	0.27127	0.001000	0.17328	0.004000	0.06068	0.0:0.0:0.5554:0.4446	7.888	0.28824	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	239.43	9	chr17	38730405	.	G	C	239.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.443;DP=133;ExcessHet=0;FS=0;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.87;SOR=0.76	GT:AD:DP:GQ:PL	0/1:13,11:24:99:251,0,311	9	0	1	0
chr17	38815020	38815020	C	T	exonic	CWC25	.	nonsynonymous SNV	CWC25:NM_017748:exon3:c.G269A:p.R90H	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.0334707954884	0.0002	0.00119808	0.0008	0	0	0	0	0.0002	0.0045	0.0047	0.0006662	103	154602	rs367958160	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.987e-05	0	0.0036	0	0	0.0014	3.148e-05	0.0008	0.0040	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0	0.0029	0	0	0	5.88e-05	0	0.0058	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	.	.	.	.	.	.	0.756	0.75466	0.212	0.86106	D	0.547	0.83355	D	9	0.023109585	0.00595	T	0.033471	0.55002	D	.	.	.	.	0.303123707472	0.29912	0.44555854255413524	0.44473	.	.	0.787967562675	0.80133	T	0.43944	0.78472	T	0.0859512	0.62729	D	0.350679	0.90344	D	0.203501668811681	0.20608	T	.	.	.	0.37894207	0.59240	0.21164481	0.45602	0.37894207	0.59240	0.21164481	0.45601	-9.604	0.71504	D	.	.	0.564	0.67373	A	.	.	5.447341	0.91008	32	0.99944881881089009	0.99886	0.98235	0.80793	D	AEFBI	0.844415	0.76137	D	0.871510836441692	0.90297	10.34	0.822440564828272	0.91307	10.822	0.99999999747369	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.141000	0.76920	7.405000	0.58601	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.577	0.87850	354	0.85282	.	.	.	.	.	.	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	936.43	41	chr17	38815020	.	C	T	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.613;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.847;SOR=0.794	GT:AD:DP:GQ:PL	0/1:40,40:80:99:948,0,890	9	0	1	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V,IKZF3:NM_001257411:exon3:c.C71T:p.A24V,IKZF3:NM_001257412:exon3:c.C71T:p.A24V,IKZF3:NM_001257413:exon3:c.C71T:p.A24V,IKZF3:NM_001257414:exon3:c.C71T:p.A24V,IKZF3:NM_012481:exon3:c.C71T:p.A24V,IKZF3:NM_183228:exon3:c.C71T:p.A24V,IKZF3:NM_183229:exon3:c.C71T:p.A24V,IKZF3:NM_183230:exon3:c.C71T:p.A24V,IKZF3:NM_183231:exon3:c.C71T:p.A24V,IKZF3:NM_183232:exon3:c.C71T:p.A24V	.	426	1085	10	1	0	12	0.00549954	.	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.15	2782.45	34	chr17	39829479	.	G	A	2782.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.06;DP=483;ExcessHet=0.7463;FS=0.48;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.646;SOR=0.736	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1108,0,951	7	0	3	0
chr17	40488765	40488765	A	G	exonic	TNS4	.	nonsynonymous SNV	TNS4:NM_032865:exon3:c.T644C:p.L215P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00336882342393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	2.733e-06	1.379e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.326e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.436706	0.04736	N	1.430440	1	0.08975	N	-0.35	0.03145	N	2.17	0.19020	T	1.35	0.00889	N	0.085	0.06190	-1.0042	0.28696	T	0.020	0.08220	T	10	0.034911454	0.01718	T	0.003369	0.07542	T	0.011	0.01250	0.287	0.24601	0.461671691612	0.45793	0.2362660991311221	0.23541	0.242659857926	0.26772	0.261921882629	0.05122	T	0.004079	0.03492	T	-0.375206	0.03339	T	-0.776734	0.02554	T	0.128420203924179	0.15235	T	0.294771	0.05441	T	0.06858626	0.14955	0.07107496	0.15175	0.06858626	0.14955	0.07107496	0.15175	-3.514	0.16628	T	.	.	0.051	0.00165	B	.	.	0.893459	0.12673	9.194	0.31723587526982056	0.01802	0.00900	0.03527	N	AEFDGBCI	0.022167	0.01074	N	-1.42034775592595	0.02460	0.1086681	-1.3989464464439	0.03263	0.1518801	0.99999976078282	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.97	-1.35	0.08638	0.061000	0.14242	0.489000	0.18882	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3225:0.0:0.5433:0.1342	4.773	0.12537	267	0.89517	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	849.43	35	chr17	40488765	.	A	G	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.557;DP=428;ExcessHet=0;FS=3.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.41;SOR=1.143	GT:AD:DP:GQ:PL	0/1:43,37:80:99:861,0,1089	9	0	1	0
chr17	41026912	41026912	G	A	exonic	KRTAP1-5	.	stopgain	KRTAP1-5:NM_031957:exon1:c.C244T:p.Q82X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.075	0.04913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497318	0.94214	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.943239	0.94137	33	0.99326971630600591	0.59622	0.25020	0.22572	N	AEFDBCIJ	0.071181	0.14161	N	0.443940189308683	0.63861	4.628086	0.176331101384099	0.48553	3.069706	0.999198222824983	0.38711	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.31	2.12	0.26372	0.371000	0.20182	0.021000	0.13590	0.592000	0.32167	0.004000	0.16614	0.000000	0.08366	0.807000	0.38039	0.0:0.3527:0.4791:0.1682	7.727	0.27930	432	0.80690	.	.	.	.	.	.	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	1509.43	34	chr17	41026912	.	G	A	1509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=481;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.232;SOR=0.768	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1521,0,1729	9	0	1	0
chr17	41105541	41105541	G	0	exonic	KRTAP4-9	.	.	.	.	418	1058	39	5	2	51	0.0226328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3643.58	101	chr17	41105541	.	G	*	3643.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.322;DP=1635;ExcessHet=0.2348;FS=1.124;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=2.21;QD=6.03;ReadPosRankSum=-1.921;SOR=0.8	GT:AD:DP:GQ:PL	0/1:206,90:296:99:1478,0,8049	9	0	1	0
chr17	41586669	41586669	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C166T:p.R56C	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	2	1500	18	2	0	22	0.00727995	.	.	.	715437	not_provided|Epidermolysis_bullosa_simplex_1A,_generalized_severe|Dermatopathia_pigmentosa_reticularis|Epidermolysis_bullosa_simplex,_Koebner_type|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive|Epidermolysis_bullosa_simplex_1C,_localized|Naegeli-Franceschetti-Jadassohn_syndrome	MedGen:C3661900|MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396|MONDO:MONDO:0007445,MedGen:C0406778,OMIM:125595,Orphanet:86920|MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400|MONDO:MONDO:0008059,MedGen:C0343111,OMIM:161000,Orphanet:69087	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.380	.	0.0050	0.0061901	0.0090	0.0013	0.0030	0	0.0095	0.0090	0.0124	0.0160	0.0055885	864	154602	rs117484558	0.0082	0.0082	0.0081	0.0083	0.0141	0.0081	0.0080	0.0134	0.0132	0.0014	0.0020	0.0048	0.0001	0.0065	0.0027	0.0087	0.0072	0.0141	0.0054	0.0054	0.0056	0.0053	0.0112	0.0051	0.0050	0.0088	0.0079	0.0014	0.0022	0.0034	0.0023	0	0.0075	0.0034	0.0082	0.0052	0.0112	0.116	0.28395	T	0.1	0.38742	T	0.0	0.02946	B	0.0	0.01387	B	0.000053	0.53742	D	0.000000	0.999962	0.52935	D	3.005	0.85968	M	-1.8	0.83893	D	-2.58	0.55662	D	0.621	0.63628	-0.6123	0.64308	T	0.237	0.60427	T	10	0.008538753	0.00194	T	.	.	.	0.380	0.69780	.	.	0.74133060669	0.73900	0.7890975023116747	0.78861	0.649699804287	0.58275	0.616685152054	0.55260	T	0.448357	0.79027	T	-0.285055	0.10139	T	-0.170562	0.57392	T	0.0364909913231952	0.03067	T	0.571043	0.20346	T	0.12033522	0.28318	0.105356894	0.25324	0.12033522	0.28318	0.105356894	0.25323	-8.583	0.64977	D	0.2293726037019945	0.31028	0.337	0.55713	B	.	.	4.656435	0.74273	26.1	0.97189278484177932	0.32758	0.64521	0.32434	D	AEFDBCI	0.191915	0.31909	N	-0.523301636129456	0.21328	1.13107	-0.435261523772592	0.23970	1.310039	0.999935064420117	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.37	3.4	0.38031	1.353000	0.33649	7.253000	0.57936	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.412000	0.27050	0.1706:0.0:0.8294:0.0	9.076	0.35683	276	0.89131	.	.	.	.	.	.	Likely benign	0	0	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	0.001604	0.000000	0.000000	0.000000	0.050000	0.000000	0.009259	0.003817	0.05	1018.43	35	chr17	41586669	.	G	A	1018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.02;DP=509;ExcessHet=0;FS=1.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.65;MQRankSum=-1.93;QD=11.84;ReadPosRankSum=-1.357;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,38:86:99:0|1:41586642_G_A:1030,0,1154:41586642	9	0	1	0
chr17	41828920	41828920	T	C	exonic	NT5C3B	.	nonsynonymous SNV	NT5C3B:NM_052935:exon7:c.A437G:p.Y146C	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.152914097345	.	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs782636218	2.463e-05	2.463e-05	2.314e-05	2.613e-05	2.159e-05	1.803e-05	1.6e-05	1.46e-05	1.227e-05	0	0	0	0	3.744e-05	0	2.159e-05	0.0002	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.078	0.55530	T	0.114	0.36765	T	.	.	.	.	.	.	0.000950	0.40932	D	0.249304	0.993719	0.42029	D	1.87	0.49600	L	-1.78	0.83737	D	-2.73	0.63438	D	0.505	0.53708	-0.1193	0.79650	T	0.523	0.82197	D	10	0.35141474	0.51992	T	0.152914	0.83425	D	0.527	0.80007	.	.	0.736057821024	0.73370	0.5964584121782436	0.59575	0.50239789988	0.48599	0.352752506733	0.18326	T	0.61673	0.88796	D	-0.0903847	0.38012	T	-0.141906	0.59953	T	0.259205342978235	0.23280	T	0.588241	0.23235	T	0.25564036	0.48599	0.33857486	0.59634	0.25564036	0.48599	0.33857486	0.59633	-7.686	0.58910	D	.	.	0.077	0.12323	B	.;.;.;.	.;.;.;.	3.365414	0.46485	22.3	0.99119656896272446	0.52958	0.61426	0.31481	D	AEFBI	0.581194	0.58130	D	-0.122337387710274	0.36420	2.10498	-0.2482292110411	0.29833	1.674627	0.0186537409483866	0.13083	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	3.19	0.35720	2.850000	0.47993	1.408000	0.26256	0.665000	0.62972	0.114000	0.23067	0.955000	0.29136	0.888000	0.42677	0.1264:0.0:0.1436:0.73	8.451	0.32035	539	0.73055	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2056.43	33	chr17	41828920	.	T	C	2056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=471;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.447;SOR=0.828	GT:AD:DP:GQ:PL	0/1:76,77:153:99:2068,0,1905	9	0	1	0
chr17	42184507	42184507	G	C	exonic	HCRT	.	nonsynonymous SNV	HCRT:NM_001524:exon2:c.C43G:p.L15V	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0523102601945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132e-06	2.052e-06	1.408e-06	2.87e-06	9.16e-07	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.16e-07	3.408e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.771	0.04461	T	0.999	0.77913	D	0.976	0.73562	D	0.380244	0.13399	U	0.586924	0.927198	0.36857	D	2.125	0.59049	M	-1.7	0.83072	D	0.38	0.03579	N	0.34	0.38129	0.266	0.87005	D	0.659	0.88144	D	10	0.54763544	0.64074	D	0.05231	0.65021	D	0.323	0.64522	0.638	0.77470	0.840425016916	0.83889	0.5766951461758126	0.57598	1.96447962958	0.93503	0.560749650002	0.47374	T	0.614701	0.87839	D	0.026862	0.55304	T	-0.199191	0.54724	T	0.965694427490234	0.67347	D	0.537746	0.18100	T	0.16168788	0.36195	0.20396304	0.44497	0.16168788	0.36195	0.20396304	0.44496	-4.787	0.34440	T	0.08987277991734725	0.05537	0.081	0.08176	B	.	.	2.498318	0.32247	18.98	0.99771205983049771	0.85918	0.97530	0.75350	D	ALL	0.290851	0.40212	N	0.445060890009647	0.63923	4.635744	0.40719817288903	0.62014	4.409838	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	4.38	0.52019	0.969000	0.28967	3.741000	0.39650	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.478	0.87558	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	387.43	33	chr17	42184507	.	G	C	387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.881;DP=294;ExcessHet=0;FS=1.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.072;SOR=0.628	GT:AD:DP:GQ:PL	0/1:16,17:33:99:399,0,389	9	0	1	0
chr17	42989528	42989528	A	G	exonic	RUNDC1	.	nonsynonymous SNV	RUNDC1:NM_173079:exon3:c.A845G:p.N282S,RUNDC1:NM_001321381:exon4:c.A851G:p.N284S	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00292174078804	.	.	0.0002	0	0	0	0	1.501e-05	0.0011	0.0012	0.0001488	23	154602	rs376014187	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	2.236e-05	0	2.519e-05	0	0.0003	2.968e-05	0.0001	0.0017	3.939e-05	3.937e-05	1.285e-05	6.711e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.481	0.08212	T	0.326	0.18789	T	0.0	0.02946	B	0.001	0.04355	B	0.001902	0.37691	N	0.250265	0.962448	0.38291	D	0.405	0.12330	N	2.29	0.17113	T	-0.78	0.21644	N	0.154	0.15888	-1.0234	0.22606	T	0.023	0.09832	T	10	0.022537053	0.00565	T	0.002922	0.06192	T	0.060	0.17295	0.302	0.27003	0.242825505644	0.23883	0.10565790387283629	0.10495	0.32879486703	0.34991	0.322991669178	0.13875	T	0.02569	0.19158	T	-0.692193	0.00041	T	-0.797143	0.01975	T	0.0107169794697029	0.00151	T	0.721228	0.33447	T	0.020297097	0.00583	0.028562257	0.01103	0.020297097	0.00583	0.028562257	0.01103	-0.517	0.00594	T	.	.	0.045	0.00052	B	.	.	0.668837	0.10374	7.099	0.94994080317047302	0.25948	0.85511	0.44651	D	AEFDGBI	0.128931	0.24690	N	-0.507047499775556	0.21852	1.162686	-0.368218132075832	0.25950	1.430322	0.999943836966115	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	0.035	0.13504	1.050000	0.30014	-0.992000	0.06676	-0.536000	0.04945	1.000000	0.71638	0.000000	0.08366	0.986000	0.61781	0.6194:0.0:0.3806:0.0	8.963	0.35019	255	0.89985	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	722.43	36	chr17	42989528	.	A	G	722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.841;DP=375;ExcessHet=0;FS=3.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.881;SOR=0.34	GT:AD:DP:GQ:PL	0/1:28,31:59:99:734,0,724	9	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H,IFI35:NM_005533:exon6:c.G578A:p.R193H	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 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	0.020141	0.005051	0.012228	0.020468	0.050000	0.051724	0.024390	0.018939	0.05	1121.43	49	chr17	43013785	.	G	A	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=694;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.45;SOR=0.919	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1133,0,1257	9	0	1	0
chr17	43021953	43021953	C	T	exonic	VAT1	.	nonsynonymous SNV	VAT1:NM_006373:exon1:c.G370A:p.G124R	.	372	1142	8	0	0	8	0.0034904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	.	0.00259585	0.0019	0.0001	0	0	0	1.698e-05	0.0039	0.0128	0.0014553	225	154602	rs377221508	0.0008	0.0008	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	0	0	0	0.0001	0	0.0009	8.995e-06	0.0010	0.0119	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	0	0	0.0001	0	0	0	0	0	0.0014	0.0130	0.026	0.46910	D	0.355	0.29540	T	0.454	0.36182	P	0.515	0.48040	P	0.000072	0.52346	D	0.168530	0.999559	0.81001	D	2.635	0.77114	M	0.84	0.47477	T	-3.06	0.63090	D	0.374	0.41557	-0.7591	0.57455	T	0.173	0.51595	T	10	0.010383159	0.00231	T	.	.	.	0.228	0.52768	0.808	0.92512	0.810640954071	0.80886	0.7867270252943331	0.78624	1.39135005619	0.85010	0.649019122124	0.59847	T	0.127768	0.45501	T	-0.399491	0.02333	T	-0.337222	0.40658	T	0.155232468014804	0.17512	T	0.973903	0.97165	D	0.5365815	0.69204	0.30586016	0.56612	0.5365815	0.69205	0.30586016	0.56611	-10.056	0.74246	D	.	.	0.492	0.66936	A	.;.	.;.	5.350841	0.89758	31	0.99793479443052047	0.87928	0.90065	0.50955	D	AEFDGBHCI	0.904877	0.85571	D	0.255777186668135	0.53924	3.559522	0.296689116216302	0.55345	3.697736	1.0	0.98316	0.733237	0.96898	0	0.748881	0.99253	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.84	3.84	0.43422	6.754000	0.74705	5.719000	0.49462	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	15.528	0.75659	348	0.85549	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, 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	.	.	.	.	.	.	.	.	0.05	919.43	34	chr17	43021953	.	C	T	919.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=399;ExcessHet=0;FS=6.183;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.281;SOR=1.454	GT:AD:DP:GQ:PL	0/1:41,35:76:99:931,0,958	9	0	1	0
chr17	43904456	43904456	G	A	exonic	MPP2	.	nonsynonymous SNV	MPP2:NM_001278370:exon2:c.C140T:p.P47L,MPP2:NM_001278372:exon2:c.C5T:p.P2L,MPP2:NM_005374:exon2:c.C5T:p.P2L,MPP2:NM_001278381:exon3:c.C5T:p.P2L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0364556557318	.	.	8.242e-05	0	0.0002	0	0	7.495e-05	0	0.0002	6.47e-05	10	154602	rs146765164	3.284e-05	3.283e-05	2.178e-05	4.401e-05	0.0002	2.543e-05	2.249e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.709e-05	6.624e-05	0.0002	3.286e-05	3.283e-05	3.854e-05	2.691e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.004	0.68238	D	0.01	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999942	0.81001	D	.	.	.	3.09	0.51952	T	-1.66	0.98311	N	0.748	0.76573	-1.0142	0.25593	T	0.081	0.32119	T	9	0.26201212	0.43665	T	0.036456	0.57003	D	0.173	0.43840	0.375	0.38830	0.706878895572	0.70432	0.14979602481463292	0.14901	0.637688771769	0.57507	0.812275230885	0.83840	D	0.027058	0.23185	T	-0.12219	0.32768	T	-0.117102	0.62039	T	0.0536729954183102	0.06134	T	0.869813	0.58094	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.74270	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.520951	0.70884	25.6	0.99492256118151001	0.67516	0.96884	0.71464	D	AEFBI	0.665610	0.63436	D	0.0200849375284677	0.42770	2.583232	0.187403856240246	0.49154	3.122231	0.999978903740579	0.50053	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.9	4.9	0.63643	4.830000	0.62434	11.591000	0.93406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	13.438	0.60545	596	0.68392	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1442.43	34	chr17	43904456	.	G	A	1442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=421;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.049;SOR=0.454	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1454,0,1394	9	0	1	0
chr17	44399973	44399973	C	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.G1870T:p.A624S,GPATCH8:NM_001304939:exon7:c.G2029T:p.A677S,GPATCH8:NM_001304942:exon7:c.G1870T:p.A624S,GPATCH8:NM_001002909:exon8:c.G2104T:p.A702S,GPATCH8:NM_001304941:exon9:c.G1870T:p.A624S,GPATCH8:NM_001304940:exon10:c.G1870T:p.A624S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0115334771582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.04302	T	0.044	0.21686	B	0.014	0.16862	B	0.149291	0.18022	N	0.621093	1	0.08975	N	0.345	0.11182	N	2.75	0.11622	T	.	.	.	0.106	0.09066	-0.9088	0.47001	T	0.006	0.01907	T	10	0.040855944	0.02690	T	0.011533	0.29247	T	.	.	0.246	0.18139	0.082315109003	0.07666	0.06779905791251553	0.06717	0.179806875035	0.20224	0.317229568958	0.13001	T	0.014093	0.12064	T	-0.296674	0.08977	T	-0.663928	0.08003	T	0.0210196919922205	0.00803	T	0.719828	0.33277	T	0.037167974	0.04714	0.053382456	0.08982	0.037167974	0.04713	0.053382456	0.08982	-2.425	0.05288	T	.	.	0.081	0.08368	B	.	.	1.518715	0.19502	14.29	0.68171566178604404	0.08577	0.33947	0.24951	N	AEFBCI	0.167206	0.29385	N	-0.905066518599619	0.10722	0.5137984	-0.836451028035589	0.13614	0.7071725	0.110125046787869	0.16624	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	1.89	0.24700	0.168000	0.16438	0.833000	0.21967	0.599000	0.40250	0.002000	0.15269	0.980000	0.30356	0.033000	0.13494	0.0:0.6906:0.0:0.3094	10.951	0.46542	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2829.43	40	chr17	44399973	.	C	A	2829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.47;DP=612;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.147;SOR=0.693	GT:AD:DP:GQ:PL	0/1:142,119:261:99:2841,0,3539	9	0	1	0
chr17	45846168	45846168	C	G	exonic	SPPL2C	.	nonsynonymous SNV	SPPL2C:NM_175882:exon1:c.C1262G:p.P421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.0270219490642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.001242	0.39669	N	0.000000	1	0.81001	D	3.76	0.95097	H	0.12	0.61089	T	-8.65	0.97547	D	0.905	0.90590	0.224	0.86312	D	0.506	0.81377	D	10	0.98465145	0.98672	D	0.027022	0.49875	D	0.544	0.81018	0.864	0.95995	0.705773429643	0.70321	0.7190580348023236	0.71848	0.570105786278	0.53176	0.529340922832	0.42941	T	0.214801	0.57648	T	0.32338	0.84711	D	0.226736	0.84510	D	0.997812867164612	0.92489	D	0.975769	0.91515	D	0.80553246	0.84261	0.8487671	0.91422	0.80553246	0.84263	0.8487671	0.91423	-12.186	0.85745	D	.	.	0.867	0.80682	P	.	.	4.536909	0.71281	25.6	0.99760727062023091	0.85011	0.95091	0.63404	D	AEFBI	0.498601	0.53263	N	0.708799881749221	0.80211	7.244	0.574350545561274	0.73106	5.916613	0.999993968468925	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	5.344000	0.65751	5.917000	0.51107	-0.224000	0.07868	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	16.204	0.81926	618	0.66225	.	.	.	.	.	.	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	3855.43	33	chr17	45846168	.	C	G	3855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.088;DP=1220;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=2.28;SOR=0.682	GT:AD:DP:GQ:PL	0/1:135,152:287:99:3867,0,3531	9	0	1	0
chr17	46067549	46067549	G	A	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon5:c.C1652T:p.T551I,KANSL1:NM_015443:exon5:c.C1652T:p.T551I,KANSL1:NM_001193465:exon6:c.C1652T:p.T551I,KANSL1:NM_001379198:exon6:c.C1652T:p.T551I	Koolen-De Vries syndrome, Autosomal dominant	3	1518	1	0	0	1	0.000329272	0.0082	0.082	YES	376119	not_provided|not_specified|Koolen-de_Vries_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0115738278123	.	.	0.0003	0	0.0030	0	0	4.496e-05	0.0011	0	0.0002587	40	154602	rs778178483	7.954e-05	7.74e-05	9.176e-05	6.733e-05	0.0015	6.728e-05	6.289e-05	0.0012	0.0011	0	0.0015	0	0	0	0	3.423e-05	0.0001	0	3.944e-05	3.941e-05	5.141e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0	0.074	0.34621	T	0.143	0.38160	T	.	.	.	.	.	.	0.015302	0.28282	N	0.414164	1	0.81001	D	.	.	.	0.89	0.45636	T	-1.67	0.39887	N	0.518	0.55106	-1.1044	0.03598	T	0.052	0.22114	T	9	0.013761759	0.00291	T	0.011574	0.29327	T	0.032	0.07718	0.274	0.22528	0.117191471859	0.11215	0.48463193866998194	0.48383	0.516667203	0.49549	0.46329960227	0.33763	T	.	.	.	-0.448382	0.01155	T	-0.45738	0.26884	T	0.0248115787521781	0.01248	T	0.878412	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.51341	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.346942	0.46141	22.3	0.99333349918954461	0.59856	0.94770	0.62270	D	AEFBI	0.272466	0.38809	N	-0.152775370061714	0.35115	2.013016	-0.0532126920741563	0.37352	2.185828	0.447617493224262	0.20510	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.23	3.13	0.35090	2.157000	0.41946	4.028000	0.41312	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.1691:0.6677:0.1632	8.954	0.34965	405	0.82444	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	535.43	38	chr17	46067549	.	G	A	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=387;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.789;SOR=0.534	GT:AD:DP:GQ:PL	0/1:41,24:65:99:547,0,971	9	0	1	0
chr17	49049420	49049425	CCAGGC	-	exonic	IGF2BP1	.	nonframeshift deletion	IGF2BP1:NM_001160423:exon13:c.1293_1298del:p.Q434_A435del,IGF2BP1:NM_006546:exon15:c.1710_1715del:p.Q573_A574del	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.766e-05	8.718e-05	0	0.0002	0.0003	0	0.0011	3.84e-05	1	26028	rs761658543	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0	8.944e-05	0.0011	0	5.617e-05	0.0009	0.0003	0.0005	0.0011	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.216e-05	0	0.0003	0.0017	0	0	0	0.0005	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1743.39	33	chr17	49049419	.	ACCAGGC	A	1743.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.475;DP=389;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=-0.569;SOR=0.459	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1755,0,1143	9	0	1	0
chr17	59155004	59155004	G	A	exonic	SKA2	.	nonsynonymous SNV	SKA2:NM_001100595:exon1:c.C80T:p.P27L	.	434	1076	11	1	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0198948607709	0.0026	0.00119808	0.0026	0.0006	0.0016	0	0	0.0036	0.0033	0.0030	0.0026132	404	154602	rs77282282	0.0034	0.0034	0.0034	0.0035	0.0043	0.0033	0.0033	0.0034	0.0034	0.0005	0.0016	0.0172	2.519e-05	0.0005	0.0043	0.0035	0.0034	0.0032	0.0026	0.0026	0.0026	0.0027	0.0037	0.0024	0.0023	0.0032	0.0031	0.0006	0.0175	0.0023	0.0161	0	0.0002	0	0.0036	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702818	0.81001	D	.	.	.	.	.	.	-10.0	0.98823	D	0.618	0.64393	-0.9863	0.33518	T	0.125	0.42945	T	7	0.01042515	0.00232	T	0.019895	0.42377	T	0.237	0.54074	.	.	0.349429436713	0.34558	.	.	.	.	0.348934918642	0.17766	T	.	.	.	-0.489614	0.00653	T	-0.473738	0.25114	T	0.0396309734099284	0.03624	T	0.647135	0.25820	T	.	.	.	.	.	.	.	.	-3.683	0.19067	T	.	.	0.135	0.29283	B	.;.	.;.	1.961696	0.24919	16.57	0.95534931734476136	0.27173	0.53036	0.29274	D	ALL	0.130745	0.24941	N	-0.249863423605621	0.31109	1.741104	-0.143701896069541	0.33650	1.927196	0.999999999947507	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.06	0.53	0.16296	1.728000	0.37727	2.559000	0.33304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.322:0.0:0.5273:0.1507	4.197	0.09908	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	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	2283.43	33	chr17	59155004	.	G	A	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.467;DP=481;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.84;SOR=0.508	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2295,0,1785	9	0	1	0
chr17	63699057	63699057	C	T	exonic	LIMD2	.	nonsynonymous SNV	LIMD2:NM_030576:exon3:c.G55A:p.G19S	.	404	1109	9	0	0	9	0.00404131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.018259786244	0.0010	0.000199681	0.0013	0.0006	0.0012	0	0.0002	0.0019	0.0016	0.0006	0.0010867	168	154602	rs199625729	0.0020	0.0020	0.0020	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0	0	9.85e-05	0.0017	0.0025	0.0014	0.0007	0.0012	0.0012	0.0014	0.0011	0.0023	0.0011	0.0010	0.0020	0.0019	0.0003	0	0.0006	0.0003	0	9.459e-05	0.0070	0.0023	0.0005	0.0004	1.0	0.00964	T	1.0	0.10245	T	0.001	0.07471	B	0.0	0.01387	B	0.171426	0.17363	N	0.543405	0.999837	0.49637	D	-0.28	0.03718	N	-0.93	0.75215	T	1.68	0.00591	N	0.117	0.19995	-0.9453	0.41764	T	0.101	0.37392	T	10	0.0048351884	0.00103	T	0.01826	0.40264	T	0.136	0.36778	.	.	0.402471007487	0.39861	0.2260512552945152	0.22520	0.498502261291	0.48324	0.520569205284	0.41707	T	0.006384	0.05814	T	-0.519586	0.00442	T	-0.525602	0.19728	T	0.00236466595125569	0.00024	T	0.519848	0.16911	T	0.024026211	0.01196	0.039776552	0.04147	0.024026211	0.01195	0.039776552	0.04147	-3.156	0.11951	T	.	.	0.071	0.10352	B	.;.;.;.;.	.;.;.;.;.	0.095564	0.04982	1.543	0.87350829412901176	0.17165	0.00882	0.03481	N	AEFDGBHCI	0.122202	0.23724	N	-1.68890620482619	0.00882	0.03816228	-1.67237802133155	0.01265	0.05700937	0.999999984683324	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.33	-4.88	0.02884	-0.422000	0.07110	-0.206000	0.10898	-0.278000	0.06506	0.000000	0.06391	0.028000	0.21151	0.800000	0.37734	0.0:0.2608:0.0:0.7392	11.562	0.50033	890	0.26919	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.05	649.43	25	chr17	63699057	.	C	T	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.395;DP=238;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=1.35;SOR=0.527	GT:AD:DP:GQ:PL	0/1:7,22:29:99:661,0,155	9	0	1	0
chr17	63880586	63880586	C	T	exonic	GH2	.	stopgain	GH2:NM_022557:exon4:c.G642A:p.W214X	.	1	1497	23	1	0	25	0.00828089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000798722	0.0026	0.0004	0.0021	0	0.0024	0.0033	0.0033	0.0030	0.0023803	368	154602	rs150668018	0.0025	0.0025	0.0024	0.0026	0.0102	0.0024	0.0024	0.0081	0.0074	0.0004	0.0028	0.0014	2.519e-05	0.0030	0.0102	0.0025	0.0027	0.0032	0.0021	0.0021	0.0022	0.0021	0.0031	0.0019	0.0019	0.0028	0.0027	0.0004	0	0.0030	0.0012	0	0.0017	0.0170	0.0031	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	1929.950000	0.999975	0.53665	D	.	.	.	.	.	.	.	.	.	0.102	0.08506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.187871	0.22573	T	-0.0447461	0.67381	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	0.124428	0.05214	1.722	0.44111833942599404	0.03368	0.02410	0.06819	N	AEFDBI	0.021955	0.01039	N	-0.4385393961644	0.24131	1.300767	-0.830537710644818	0.13755	0.7153523	9.36666290586609E-5	0.04910	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.34	0.194	0.14424	-0.085000	0.11215	-1.672000	0.04943	-0.662000	0.04349	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8261:0.0:0.1739	7.117	0.24602	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010326	0.000000	0.014986	0.020661	0.000000	0.000000	0.009740	0.011719	0.05	1502.43	40	chr17	63880586	.	C	T	1502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=429;ExcessHet=0;FS=5.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-0.98;QD=15.02;ReadPosRankSum=0.659;SOR=1.277	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1514,0,1405	9	0	1	0
chr17	64055764	64055764	G	A	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon13:c.C1583T:p.T528M	.	381	1133	8	0	0	8	0.00351803	.	.	.	2222942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0158499193337	.	0.000199681	0.0002	0.0001	0.0001	0	0	2.205e-05	0	0.0013	0.0001358	21	154602	rs546366953	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.991e-05	2.265e-05	0	2.527e-05	1.915e-05	0.0021	0.0002	0.0001	0.0011	0.0001	0.0001	0.0002	8.055e-05	0.0010	7.572e-05	6.277e-05	0.0004	0.0003	9.625e-05	0	0	0	0	0	0	0.0001	0	0.0010	0.136	0.26085	T	0.142	0.33330	T	0.017	0.17573	B	0.001	0.04355	B	0.007468	0.31378	N	0.309004	0.996324	0.23049	N	0.205	0.09354	N	0.2	0.60111	T	-0.33	0.12472	N	0.161	0.16864	-1.0574	0.12414	T	0.061	0.25310	T	10	0.0123716295	0.00266	T	0.01585	0.36807	T	0.114	0.32008	.	.	0.401767401478	0.39795	0.2162798800807302	0.21543	0.439492444205	0.43977	0.285005092621	0.08199	T	0.176892	0.52700	T	-0.522025	0.00428	T	-0.568181	0.15617	T	0.0196864910711745	0.00671	T	0.857714	0.54741	D	0.022903724	0.00988	0.044467606	0.05767	0.022903724	0.00988	0.044467606	0.05767	-5.009	0.36938	T	.	.	0.077	0.06479	B	.	.	2.304195	0.29484	18.14	0.96727146315015444	0.30873	0.40896	0.26538	N	AEFDBI	0.142514	0.26498	N	-0.578639723423026	0.19595	1.026739	-0.397556632567177	0.25069	1.376499	0.990441978563673	0.32155	0.562547	0.31514	0	0.577304	0.33150	0	0.55559	0.18752	1	0.635551	0.53088	0	.	.	4.97	2.44	0.28875	2.590000	0.45819	1.503000	0.26970	0.654000	0.53741	0.506000	0.27002	0.988000	0.31051	0.572000	0.30699	0.4888:0.0:0.5112:0.0	4.387	0.10753	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1197.43	36	chr17	64055764	.	G	A	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=430;ExcessHet=0;FS=0.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=2.24;SOR=0.602	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1209,0,1277	9	0	1	0
chr17	65053567	65053567	T	C	exonic	GNA13	.	nonsynonymous SNV	GNA13:NM_001282425:exon2:c.A160G:p.I54V,GNA13:NM_006572:exon2:c.A445G:p.I149V	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0632272270042	0.0002	0.000399361	0.0002	0	0.0003	0.0002	0	0.0002	0	0.0005	0.0002199	34	154602	rs201626569	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	8.963e-05	0.0002	0	0.0003	1.872e-05	0.0014	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.535e-05	0	0	0	0	0.0005	0	0.0002	0.088	0.35349	T	0.125	0.37037	T	0.874	0.48047	P	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-2.66	0.90272	D	-0.59	0.17624	N	0.359	0.40063	0.708	0.93271	D	0.786	0.92733	D	10	0.15986237	0.30025	T	0.063227	0.68900	D	0.577	0.82912	.	.	0.738346921943	0.73600	0.5162074885067635	0.51543	0.710361414038	0.61678	0.593113064766	0.51934	T	0.388412	0.74909	T	-0.117855	0.33475	T	-0.0708075	0.65568	T	0.0831566354084816	0.10385	T	0.783222	0.42574	T	0.21397711	0.43790	0.114751406	0.27700	0.21397711	0.43790	0.114751406	0.27699	-4.556	0.36644	T	.	.	0.107	0.19879	B	.;.	.;.	2.922234	0.38794	20.8	0.99662929608073791	0.78074	0.96961	0.71893	D	AEFDBHI	0.573232	0.57650	D	0.544900695550755	0.69771	5.40467	0.558676749192964	0.72004	5.741852	0.999999999999393	0.74766	0.744818	0.98587	0	0.672317	0.65289	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	3.968000	0.56516	2.407000	0.32622	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.496	0.75386	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1118.43	34	chr17	65053567	.	T	C	1118.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=2.01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1130,0,1435	9	0	1	0
chr17	67992921	67992921	A	G	exonic	C17orf58	.	stoploss	C17orf58:NM_181656:exon2:c.T226C:p.X76R	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00319489	0.0077	0.0011	0.0056	0	0.0026	0.0118	0.0089	0.0024	0.0075808	1172	154602	rs190313223	0.0086	0.0086	0.0087	0.0086	0.0182	0.0085	0.0085	0.0154	0.0143	0.0011	0.0046	0.0116	2.519e-05	0.0026	0.0182	0.0101	0.0082	0.0021	0.0063	0.0063	0.0066	0.0059	0.0106	0.0059	0.0058	0.0099	0.0097	0.0018	0	0.0042	0.0144	0	0.0020	0.0102	0.0106	0.0057	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.741056	0.00020	T	-0.824928	0.01355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207906	0.05916	2.358	0.59305894313049745	0.06193	0.02565	0.07104	N	AEFDGBHCI	.	.	.	-0.929955126842265	0.10146	0.4834939	-1.13365104741547	0.07065	0.3422861	0.999998403543863	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.143876	0.04018	0	0.116346	0.24258	2.72	-1.23	0.08977	-0.321000	0.08060	-0.793000	0.07406	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4314:0.2196:0.1354:0.2136	0.473	0.00499	909	0.22467	.	.	.	C17orf58	Heart_Atrial_Appendage	.	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	0.013609	0.000000	0.016304	0.017544	0.050000	0.017241	0.015337	0.018939	0.05	1350.43	35	chr17	67992921	.	A	G	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.85;DP=443;ExcessHet=0;FS=2.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.092;SOR=0.499	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1362,0,1765	9	0	1	0
chr17	72124022	72124022	C	A	exonic	SOX9	.	nonsynonymous SNV	SOX9:NM_000346:exon3:c.C1165A:p.P389T	Acampomelic campomelic dysplasia, Autosomal dominant;Campomelic dysplasia, Autosomal dominant;Campomelic dysplasia with autosomal sex reversal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1328877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0870135506429	.	.	3.46e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs753584114	1.786e-05	2.052e-05	1.093e-05	2.488e-05	0.0003	1.243e-05	1.056e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.17069	T	0.318	0.19246	T	0.361	0.33905	B	0.034	0.22546	B	0.015566	0.28211	U	0.334519	0.999785	0.49076	D	2.015	0.55033	M	-1.07	0.76948	T	-1.76	0.41618	N	0.035	0.01004	-0.7585	0.57487	T	0.217	0.57928	T	10	0.12680069	0.24110	T	0.087014	0.74851	D	0.138	0.37187	0.176	0.08257	0.588800658163	0.58555	0.2300194752723587	0.22916	1.02818934709	0.75339	0.824259519577	0.85681	D	0.514728	0.82914	D	-0.332174	0.05949	T	-0.390978	0.34438	T	0.109951011836529	0.13418	T	0.782722	0.41876	T	0.25632077	0.48670	0.1608238	0.37440	0.25632077	0.48670	0.1608238	0.37439	-4.689	0.33270	T	0.21170665445218886	0.28391	0.073	0.04764	B	.;.	.;.	2.457989	0.31662	18.81	0.98938200706727808	0.48883	0.67125	0.33320	D	AEFDGBHCI	0.387455	0.46743	N	-0.389616575337592	0.25838	1.40561	-0.269054394373061	0.29123	1.629192	0.999999999999998	0.74766	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.18	4.18	0.48473	1.565000	0.35993	3.856000	0.40113	0.524000	0.24156	0.639000	0.28076	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.108	0.81046	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	988.43	36	chr17	72124022	.	C	A	988.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=395;ExcessHet=0;FS=3.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.935;SOR=1.136	GT:AD:DP:GQ:PL	0/1:40,35:75:99:1000,0,1005	9	0	1	0
chr17	73201862	73201862	G	A	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon7:c.G2035A:p.V679M	Congenital disorder of glycosylation, type IIg	.	.	.	.	.	.	.	.	.	.	1446402	COG1_congenital_disorder_of_glycosylation	MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00487490657069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229728305	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.496e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.221	0.18889	T	0.232	0.33780	T	0.336	0.33356	B	0.013	0.16460	B	0.000198	0.48115	D	0.148036	0.872728	0.35594	D	1.495	0.37439	L	1.91	0.23283	T	-0.1	0.08495	N	0.039	0.01274	-1.0419	0.16741	T	0.044	0.19111	T	10	0.10020012	0.18233	T	0.004875	0.12224	T	0.017	0.02790	0.242	0.17524	0.301789629655	0.29801	.	.	0.108429119813	0.12225	0.362176299095	0.19703	T	0.007546	0.11823	T	-0.24086	0.15239	T	-0.486901	0.23716	T	0.207738071680069	0.20834	T	0.889711	0.62218	D	0.055862147	0.10912	0.07928001	0.17834	0.055862147	0.10912	0.07928001	0.17834	-3.52	0.16713	T	0.07055172326588655	0.02735	0.080	0.13783	B	.;.	.;.	2.045765	0.26006	16.97	0.90705341072837375	0.19956	0.51207	0.28842	D	AEFDBCIJ	0.133686	0.25343	N	-0.192578300364029	0.33443	1.897368	-0.112845440726949	0.34872	2.010841	0.992240826757666	0.32771	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	3.36	0.37579	2.392000	0.44087	1.544000	0.27247	0.618000	0.50648	0.992000	0.37556	0.905000	0.28034	0.896000	0.43308	0.0:0.4735:0.4079:0.1186	9.422	0.37722	466	0.78352	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	950.43	39	chr17	73201862	.	G	A	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.521;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.056;SOR=0.636	GT:AD:DP:GQ:PL	0/1:48,42:90:99:962,0,1183	9	0	1	0
chr17	80346013	80346013	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C7678T:p.P2560S	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0318653279283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999918	0.51042	D	.	.	.	1.72	0.26588	T	-7.66	0.95511	D	0.614	0.63120	-0.7031	0.60290	T	0.196	0.55013	T	10	0.7384324	0.74786	D	0.031865	0.53843	D	0.265	0.57870	.	.	0.575045364607	0.57173	.	.	1.08423785368	0.77231	0.767387509346	0.77033	T	0.284914	0.65770	T	-0.00925805	0.50369	T	-0.251075	0.49712	T	0.999060332775116	0.96056	D	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.68276	P	.;.	.;.	3.643750	0.51676	23.1	0.96507638980641508	0.30065	0.98849	0.87668	D	AEFDGBI	0.847648	0.76450	D	0.818593130469345	0.87252	9.154863	0.753970942322189	0.86454	8.894099	0.999999999449475	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	7.603000	0.82048	7.564000	0.60548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	18.759	0.91809	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2994.43	78	chr17	80346013	.	C	T	2994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=617;ExcessHet=0;FS=2.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=0.196;SOR=0.88	GT:AD:DP:GQ:PL	0/1:92,103:195:99:3006,0,2358	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	0/1:74,54:128:99:1335,0,1758	8	0	2	0
chr17	81536183	81536183	C	T	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon3:c.C1021T:p.R341W,FSCN2:NM_012418:exon3:c.C1021T:p.R341W	Retinitis pigmentosa 30	0	1520	2	0	0	2	0.000657462	.	.	.	846511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.236948481749	.	.	5.612e-05	0	0	0	0	5.102e-05	0	0.0002	2.59e-05	4	154602	rs774101992	2.967e-05	3.01e-05	3.154e-05	2.779e-05	0.0002	2.236e-05	1.987e-05	8.155e-05	6.361e-05	6.003e-05	4.629e-05	0	2.543e-05	0	0.0002	1.628e-05	0.0001	0.0001	3.288e-05	3.284e-05	1.285e-05	5.385e-05	7.244e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000272	0.46590	D	0.150678	0.99893	0.45716	D	2.565	0.75005	M	1.45	0.32958	T	-3.79	0.71639	D	0.607	0.63798	-0.7148	0.59717	T	0.178	0.52396	T	10	0.6162586	0.67722	D	0.236948	0.88522	D	0.242	0.54781	0.599	0.72984	0.69193853668	0.68929	0.5778549564693469	0.57714	0.42870744388	0.43186	0.517102599144	0.41219	T	0.547279	0.84607	D	-0.187919	0.22565	T	-0.292374	0.45526	T	0.779930770397186	0.45045	D	0.957804	0.84101	D	0.2542238	0.48449	0.29539672	0.55571	0.2542238	0.48449	0.29539672	0.55570	-10.412	0.77414	D	0.5014380624579805	0.57659	0.110	0.25850	B	.;.	.;.	4.872576	0.79831	27.2	0.99908320555794961	0.97875	0.64562	0.32447	D	AEFDBCI	0.612807	0.60074	D	0.180611373950839	0.50270	3.218527	0.0136126093584109	0.40346	2.406366	0.999208789649505	0.38742	0.764865	0.99124	0	0.550933	0.16991	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.69	2.42	0.28720	0.283000	0.18605	2.553000	0.33274	0.549000	0.26987	0.014000	0.18986	0.999000	0.35428	0.984000	0.60418	0.2663:0.7337:0.0:0.0	12.803	0.56975	.	.	Fascin domain|Fascin 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	0.001009	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.000000	0.05	833.43	41	chr17	81536183	.	C	T	833.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=428;ExcessHet=0;FS=0.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=0.954;SOR=0.582	GT:AD:DP:GQ:PL	0/1:70,36:106:99:845,0,1682	9	0	1	0
chr17	81941276	81941280	CCTGG	-	exonic	MYADML2	.	frameshift deletion	MYADML2:NM_001145113:exon3:c.462_466del:p.Q155Efs*29	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274229325	4.293e-06	4.104e-06	1.412e-06	7.253e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	0	0	0	0	0.0002	2.781e-06	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1725.39	72	chr17	81941275	.	ACCTGG	A	1725.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=528;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=0.448;SOR=0.708	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1737,0,1597	9	0	1	0
chr18	9254360	9254362	GAT	-	exonic	ANKRD12	.	nonframeshift deletion	ANKRD12:NM_001083625:exon8:c.1024_1026del:p.D345del,ANKRD12:NM_001204056:exon8:c.1024_1026del:p.D345del,ANKRD12:NM_015208:exon9:c.1093_1095del:p.D368del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.251e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs767111396	4.796e-06	4.31e-05	6.816e-06	2.755e-06	2.528e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.528e-05	0	0	4.5e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095477	0.310606	0.027027	0.022581	0.214286	0.061224	0.149635	0.072072	0.05	2341.39	33	chr18	9254359	.	AGAT	A	2341.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.493;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.076;SOR=0.671	GT:AD:DP:GQ:PL	0/1:69,62:131:99:2353,0,2682	9	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A,ANKRD12:NM_001204056:exon8:c.A2137G:p.T713A,ANKRD12:NM_015208:exon9:c.A2206G:p.T736A	.	440	1057	25	0	0	25	0.0116877	.	.	.	3547058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010574	0.000000	0.013587	0.017544	0.050000	0.000000	0.006098	0.015152	0.05	550.43	33	chr18	9255473	.	A	G	550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=352;ExcessHet=0;FS=2.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.06;SOR=0.561	GT:AD:DP:GQ:PL	0/1:26,21:47:99:562,0,652	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	1/0:4,154:406:99:.:.:13048,7176,9143:.	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	0/1:34,22:56:99:120,0,566	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	0/1:144,20:164:99:183,0,3894	2	0	8	0
chr18	14808717	14808717	T	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon26:c.T2359G:p.L787V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.193e-06	2.056e-06	0	4.446e-06	9.435e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.435e-07	3.533e-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	385.43	35	chr18	14808717	.	T	G	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.325;DP=254;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.01;MQRankSum=1.13;QD=14.28;ReadPosRankSum=-0.978;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,18:27:99:397,0,261	9	0	1	0
chr18	14851518	14851518	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon42:c.A3574G:p.T1192A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00291464088749	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231796608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.83	0.20963	L	2.34	0.16351	T	-1.11	0.28703	N	0.03	0.00717	-1.0115	0.26447	T	0.035	0.15074	T	9	0.065399736	0.08819	T	0.002915	0.06162	T	0.045	0.12272	.	.	0.0482279557977	0.04254	0.006452707389506797	0.00613	0.0318142403543	0.03299	0.849252104759	0.89502	D	0.003922	0.03333	T	-0.387684	0.02784	T	-0.794657	0.02039	T	0.102265505721601	0.12604	T	0.229577	0.03081	T	0.036108065	0.04378	0.040937223	0.04540	0.036108065	0.04378	0.040937223	0.04539	-4.339	0.28720	T	.	.	0.179	0.39012	B	.	.	0.356051	0.07288	3.897	0.29208554072945636	0.01538	0.08831	0.14701	N	AEFDGBI	0.045963	0.07577	N	-1.34053043592119	0.03223	0.1436517	-1.44559681357169	0.02810	0.129943	0.0927884093635131	0.16167	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.212	0.14516	1.721000	0.37654	.	.	-2.121000	0.00385	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.7483:0.2517:0.0:0.0	6.188	0.19722	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1159.43	34	chr18	14851518	.	A	G	1159.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.089;DP=392;ExcessHet=0;FS=4.68;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.4;MQRankSum=-1.345;QD=13.48;ReadPosRankSum=-1.189;SOR=0.32	GT:AD:DP:GQ:PL	0/1:34,52:86:99:1171,0,836	9	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	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	0/1:27,29:56:99:246,0,377	1	0	7	2
chr18	33746048	33746048	T	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T6200G:p.L2067R	Bainbridge-Ropers syndrome	9	1502	10	1	0	12	0.00397878	.	.	.	215555	Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome|ASXL3-related_disorder|not_provided|not_specified	MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.139	0.00838704930115	0.0070	0.00239617	0.0063	0.0013	0.0030	0	0.0011	0.0096	0.0034	0.0040	0.0062483	966	154602	rs144534810	0.0096	0.0096	0.0098	0.0094	0.0113	0.0094	0.0094	0.0111	0.0111	0.0012	0.0050	0.0076	0	0.0008	0.0057	0.0113	0.0088	0.0041	0.0067	0.0067	0.0067	0.0066	0.0105	0.0063	0.0062	0.0099	0.0096	0.0018	0.0011	0.0095	0.0078	0	0.0011	0.0342	0.0105	0.0096	0.0019	0.001	0.78490	D	0.046	0.49120	D	0.994	0.66517	D	0.844	0.60373	P	.	.	.	.	0.994832	0.42435	D	1.04	0.26193	L	2.38	0.15843	T	-0.62	0.18248	N	0.391	0.43223	-1.1234	0.02127	T	0.042	0.18118	T	9	0.007854581	0.00178	T	0.008387	0.22206	T	0.139	0.37390	.	.	0.0934897674506	0.08844	0.6560833145381665	0.65544	0.168159749984	0.18958	0.671352028847	0.63031	T	0.053984	0.29597	T	-0.348477	0.04824	T	-0.263945	0.48430	T	0.0181071546874178	0.00533	T	0.59824	0.22282	T	0.4112579	0.61504	0.51290697	0.71854	0.4112579	0.61504	0.51290697	0.71854	-4.585	0.31982	T	0.6633343462471121	0.73718	0.440	0.61715	A	.	.	4.042049	0.59845	24.1	0.99750389958594343	0.84228	0.94429	0.61137	D	AEFDGBI	0.711550	0.66495	D	0.421137562254106	0.62584	4.476888	0.459852399805416	0.65351	4.812963	0.999998901175806	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.196000	0.58203	6.107000	0.53619	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	15.078	0.71762	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	1990.43	35	chr18	33746048	.	T	G	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.632;DP=515;ExcessHet=0;FS=1.195;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.181;SOR=0.798	GT:AD:DP:GQ:PL	0/1:79,90:169:99:2002,0,1823	9	0	1	0
chr18	36718000	36718000	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon15:c.C2126T:p.A709V,FHOD3:NM_025135:exon16:c.C2177T:p.A726V,FHOD3:NM_001281740:exon19:c.C2702T:p.A901V	.	.	.	.	.	.	.	.	.	.	.	4011070	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00579109969768	7.7e-05	.	3.377e-05	0	0.0002	0	0	3.034e-05	0	0	3.88e-05	6	154602	rs146524905	3.77e-05	3.967e-05	3.818e-05	3.721e-05	0.0002	2.965e-05	2.661e-05	8.911e-05	6.463e-05	2.989e-05	0.0002	0	0	0	0.0002	3.512e-05	8.302e-05	1.168e-05	2.629e-05	2.627e-05	2.569e-05	2.692e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.29	0.21011	T	0.001	0.64738	B	0.002	0.40614	B	0.146252	0.18119	N	0.488061	1	0.08975	N	2.25	0.63811	M	1.54	0.30401	T	-1.34	0.33401	N	0.061	0.03726	-1.0585	0.12134	T	0.107	0.39051	T	10	0.078346014	0.12477	T	0.005791	0.15042	T	0.048	0.13305	.	.	0.246926113748	0.24311	0.21432052352625625	0.21348	0.161166695707	0.18189	0.324776887894	0.14144	T	0.01042	0.09410	T	-0.463008	0.00941	T	-0.605296	0.12371	T	0.0854900479316711	0.10674	T	0.893711	0.63970	D	0.062850885	0.13171	0.09788601	0.23316	0.062850885	0.13171	0.09788601	0.23315	-4.85	0.36004	T	.	.	0.089	0.13032	B	.;.;.	.;.;.	2.671843	0.34836	19.74	0.97709223630835595	0.35483	0.57682	0.30441	D	AEFDBI	0.310499	0.41649	N	-0.185083112960452	0.33754	1.918681	-0.211770350341817	0.31111	1.757751	0.866642591993319	0.25331	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	4.13	0.47661	2.930000	0.48618	3.949000	0.40660	0.599000	0.40250	0.420000	0.26330	0.994000	0.32194	0.102000	0.18378	0.1666:0.746:0.0:0.0874	7.327	0.25737	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	.	.	.	.	.	.	.	.	0.05	1317.43	46	chr18	36718000	.	C	T	1317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.667;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.51;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1329,0,1237	9	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	558.45	33	chr18	37067196	.	T	C	558.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.944;DP=1078;ExcessHet=0.7463;FS=174.631;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,47:242:99:0|1:37067196_T_C:207,0,6428:37067196	7	0	3	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	592.8	251	chr18	37067197	.	G	A	592.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-7.587;DP=1619;ExcessHet=1.5895;FS=165.612;InbreedingCoeff=-0.2259;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.5;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,47:242:99:0|1:37067196_T_C:207,0,6428:37067196	6	0	4	0
chr18	45663865	45663865	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon11:c.G1432A:p.V478I,SLC14A2:NM_001242692:exon12:c.G1432A:p.V478I,SLC14A2:NM_001371319:exon15:c.G1432A:p.V478I	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0076056943464	0.0018	.	0.0014	0.0001	0.0013	0	0.0005	0.0020	0	0.0011	0.0014553	225	154602	rs150313115	0.0024	0.0024	0.0025	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0008	0.0016	0	0.0003	0.0007	0.0028	0.0023	0.0012	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0024	0.0023	0.0003	0	0.0004	0.0012	0	0	0	0.0028	0.0009	0.0008	0.06	0.37326	T	0.354	0.17268	T	0.005	0.12996	B	0.005	0.11217	B	0.271488	0.15119	N	0.629214	0.887842	0.27935	N	2.295	0.65404	M	1.29	0.35775	T	-0.02	0.07299	N	0.214	0.23884	-1.0359	0.18575	T	0.090	0.34683	T	10	0.014525443	0.00305	T	0.007606	0.20192	T	0.069	0.20116	.	.	0.0551355673512	0.04727	0.4659877895542462	0.46517	0.167689513179	0.18908	0.34398496151	0.17033	T	0.144645	0.48138	T	-0.527335	0.00398	T	-0.533935	0.18895	T	0.0195424297055923	0.00658	T	.	.	.	0.0354843	0.04184	0.054159045	0.09262	0.0354843	0.04184	0.054159045	0.09261	-3.507	0.16529	T	.	.	0.081	0.08081	B	.;.	.;.	2.761019	0.36214	20.2	0.99739897002858979	0.83409	0.73877	0.36135	D	AEFBI	0.158108	0.28372	N	-0.061269694468375	0.39100	2.300471	0.0537772868847524	0.42254	2.552615	0.999835688219983	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	4.46	0.53567	2.894000	0.48339	8.432000	0.77174	-0.108000	0.15293	0.995000	0.38783	1.000000	0.68203	0.098000	0.18187	0.1054:0.0:0.8946:0.0	10.126	0.41823	971	0.05719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	715.43	35	chr18	45663865	.	G	A	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.473;DP=370;ExcessHet=0;FS=2.175;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.48;SOR=0.906	GT:AD:DP:GQ:PL	0/1:27,32:59:99:727,0,670	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|1:48,32:80:99:0|1:65824683_C_G:256,0,946:65824683	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|1:16,14:30:99:0|1:79373902_C_T:379,0,563:79373902	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|1:16,14:30:99:0|1:79373902_C_T:379,0,563:79373902	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|1:16,14:30:99:0|1:79373902_C_T:379,0,563:79373902	0	0	4	6
chr19	691995	691995	G	A	exonic	PRSS57	.	nonsynonymous SNV	PRSS57:NM_001308209:exon3:c.C241T:p.R81C,PRSS57:NM_214710:exon3:c.C244T:p.R82C	.	429	1076	15	2	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0005	0.0181709	0.0131	0.0001	0.0033	0.1229	0.0003	0.0007	0.0063	0.0241	0.0082082	1269	154602	rs76977862	0.0037	0.0038	0.0037	0.0038	0.1050	0.0036	0.0036	0.1019	0.1007	0.0002	0.0012	0.0004	0.1050	0.0013	0.0031	0.0002	0.0044	0.0214	0.0042	0.0043	0.0031	0.0055	0.0927	0.0040	0.0039	0.0858	0.0831	0.0001	0	0.0004	0.0003	0.0927	0.0018	0	0.0003	0.0033	0.0224	.	.	.	0.049	0.49120	D	0.998	0.73220	D	0.892	0.63276	P	0.057210	0.02095	N	2.309790	1	0.08975	N	1.65	0.42232	L	.	.	.	.	.	.	0.337	0.38129	-0.4828	0.69267	T	0.075	0.30210	T	10	0.0027598143	0.00043	T	.	.	.	0.364	0.68407	.	.	0.24896430686	0.24499	0.3307757033672906	0.32990	0.0849568686431	0.09603	0.43369615078	0.29715	T	0.310892	0.68282	T	-0.500311	0.00569	T	-0.414874	0.31663	T	0.0506395642369326	0.05612	T	0.775222	0.40690	T	0.36636472	0.58315	0.2687452	0.52747	0.36636472	0.58316	0.2687452	0.52746	-7.427	0.57095	T	.	.	0.276	0.52630	B	.;.	.;.	2.755273	0.36121	20.2	0.99553447963465358	0.71273	0.02967	0.07808	N	AEFI	0.108193	0.21531	N	-0.452267172667099	0.23662	1.272	-0.744613108377847	0.15854	0.8359072	7.77420006893371E-6	0.01202	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.28	-3.68	0.04175	-0.065000	0.11575	0.144000	0.15210	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0896:0.4038:0.3696:0.1371	4.661	0.12030	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004555	0.005102	0.000000	0.002924	0.000000	0.000000	0.003106	0.018939	0.05	1198.43	37	chr19	691995	.	G	A	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.85;DP=474;ExcessHet=0;FS=5.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.45;SOR=1.277	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1210,0,1110	9	0	1	0
chr19	1787158	1787158	A	T	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon25:c.T2987A:p.L996H,ATP8B3:NM_138813:exon25:c.T3098A:p.L1033H	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.791	.	0.0007	0.00259585	0.0030	0	0.0010	0	0	0.0016	0.0108	0.0136	0.0020181	312	154602	rs200106210	0.0015	0.0015	0.0012	0.0018	0.0113	0.0014	0.0014	0.0100	0.0098	8.972e-05	0.0007	0.0128	2.523e-05	1.886e-05	0.0113	0.0006	0.0027	0.0106	0.0011	0.0011	0.0010	0.0011	0.0100	0.0009	0.0009	0.0077	0.0069	2.406e-05	0	0.0003	0.0124	0	0	0.0102	0.0009	0.0009	0.0100	0.001	0.78490	D	0.021	0.58089	D	0.998	0.73220	D	0.816	0.58888	P	0.000065	0.52346	D	0.078047	0.980305	0.39652	D	3.67	0.94359	H	-2.62	0.90017	D	-5.45	0.85468	D	0.814	0.80964	0.959	0.96523	D	0.858	0.95258	D	10	0.019571215	0.00439	T	.	.	.	0.791	0.93108	.	.	0.894014465091	0.89296	0.53269945904347	0.53194	0.478852830938	0.46947	0.497497439384	0.38479	T	0.414104	0.76776	T	-0.0160005	0.49420	T	0.213635	0.83852	D	0.127613595384541	0.15159	T	0.715628	0.32820	T	0.72139674	0.79239	0.6979147	0.82208	0.77133715	0.82130	0.7310875	0.84111	-13.241	0.90331	D	.	.	0.541	0.66394	A	.;.	.;.	4.184609	0.63024	24.5	0.98070360785366339	0.38023	0.97819	0.77366	D	AEFGBHCI	0.911787	0.87154	D	0.537951208265048	0.69350	5.34464	0.353545343044294	0.58720	4.044432	0.99999724342468	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	8.782000	0.91448	10.816000	0.83832	0.750000	0.87069	1.000000	0.71638	0.996000	0.32793	0.074000	0.16894	1.0:0.0:0.0:0.0	12.823	0.57087	988	0.01987	P-type ATPase, 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	0.004028	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.007576	0.05	724.43	33	chr19	1787158	.	A	T	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.122;DP=359;ExcessHet=0;FS=3.515;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.008;SOR=0.626	GT:AD:DP:GQ:PL	0/1:28,30:58:99:736,0,663	9	0	1	0
chr19	1805931	1805931	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon9:c.G619C:p.E207Q,ATP8B3:NM_138813:exon9:c.G778C:p.E260Q	.	429	1090	2	0	1	3	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.0504869883364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.72454	0.33653	D	3.605	0.93784	H	-1.29	0.79475	T	-2.56	0.60188	D	0.561	0.71143	0.765	0.93982	D	0.686	0.89165	D	10	0.66654754	0.70461	D	0.050487	0.64262	D	0.468	0.76289	0.387	0.40788	0.891256671117	0.89018	0.6913434148138818	0.69074	0.440762058902	0.44078	0.511945188046	0.40494	T	0.686729	0.90854	D	0.0571413	0.59253	T	-0.155697	0.58736	T	0.994954526424408	0.86582	D	0.957004	0.87589	D	0.8680031	0.88704	0.67476267	0.80905	0.8680031	0.88706	0.67476267	0.80906	-10.476	0.76709	D	.	.	0.416	0.62869	A	.;.;.	.;.;.	4.847063	0.79187	27.1	0.99807380318874994	0.89174	0.97687	0.76416	D	AEFBI	0.509873	0.53916	D	0.609865490429506	0.73797	6.025351	0.503700896441069	0.68238	5.19267	0.0252085331082764	0.13633	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.75	3.75	0.42236	3.950000	0.56384	7.432000	0.58801	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.679	0.68613	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1560.43	33	chr19	1805931	.	C	G	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=447;ExcessHet=0;FS=2.406;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.586;SOR=0.926	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1572,0,1629	9	0	1	0
chr19	6534749	6534749	C	T	exonic	TNFSF9	.	nonsynonymous SNV	TNFSF9:NM_003811:exon3:c.C448T:p.R150W	.	414	1081	27	0	0	27	0.0123344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.156715041905	0.0002	0.000599042	0.0016	0.0002	0.0013	0.0009	0	0.0007	0.0077	0.0048	0.000608	94	154602	rs77313944	0.0005	0.0005	0.0003	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.029e-05	7.121e-05	0.0029	0.0006	0	0.0040	0.0001	0.0011	0.0043	0.0004	0.0004	0.0003	0.0004	0.0052	0.0003	0.0003	0.0036	0.0031	0.0001	0	6.541e-05	0.0026	0.0012	0	0	0.0002	0	0.0052	0.012	0.54683	D	0.006	0.70582	D	0.967	0.56408	D	0.257	0.39298	B	0.407458	0.04571	U	1.486760	1	0.08975	N	0.345	0.11182	N	-3.73	0.95458	D	-3.58	0.69118	D	0.133	0.12913	-0.0060	0.82132	T	0.638	0.87344	D	10	0.014418662	0.00303	T	0.156715	0.83744	D	0.256	0.56694	.	.	0.814758757958	0.81302	0.4046565733981127	0.40381	0.104834384068	0.11861	0.353660434484	0.18459	T	0.65478	0.89567	D	-0.31116	0.07648	T	-0.22121	0.52620	T	0.0678301304311287	0.08344	T	0.359864	0.08266	T	0.42899168	0.62686	0.21123959	0.45544	0.42899168	0.62687	0.21123959	0.45543	-7.576	0.58143	D	.	.	0.182	0.39477	B	.	.	1.624958	0.20752	14.89	0.99018241354323389	0.50527	0.06716	0.12738	N	AEFDBHCI	0.055189	0.10098	N	-0.640434869499832	0.17739	0.915376	-0.74969168509557	0.15730	0.8287335	0.999977776660373	0.50053	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.655142	0.61905	0	.	.	4.13	1.5	0.22029	-0.875000	0.04314	0.184000	0.15665	0.526000	0.24426	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.5435:0.4565:0.0:0.0	8.476	0.32173	964	0.07719	Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor 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	0.004061	0.000000	0.002740	0.002941	0.000000	0.000000	0.000000	0.018939	0.05	1198.43	39	chr19	6534749	.	C	T	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=415;ExcessHet=0;FS=1.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.55;SOR=0.49	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1210,0,1004	9	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	233.11	92	chr19	7871678	.	G	C	233.11	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.979;DP=756;ExcessHet=0.2348;FS=265.489;InbreedingCoeff=-0.2145;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.776;SOR=8.838	GT:AD:DP:GQ:PL	0/1:57,17:80:99:157,0,1200	6	0	2	2
chr19	8885665	8885665	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon61:c.A41231G:p.N13744S	.	427	1087	7	0	1	8	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00778774216405	.	0.000599042	0.0006	0	0.0021	0	0.0002	0.0007	0.0011	0.0002	0.0006274	97	154602	rs200034208	0.0004	0.0004	0.0004	0.0004	0.0080	0.0004	0.0004	0.0062	0.0055	0.0002	0.0019	0.0030	0	1.873e-05	0.0080	0.0003	0.0009	0.0002	0.0005	0.0005	0.0005	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	0	0	0.0020	0.0029	0	0	0.0034	0.0004	0.0014	0.0004	0.143	0.25355	T	0.109	0.37449	T	.	.	.	.	.	.	0.677227	0.06071	U	1.270180	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.69	0.19720	N	0.133	0.12913	-0.9356	0.43303	T	0.121	0.42058	T	9	0.0050973296	0.00110	T	0.007788	0.20668	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.2538184944056412	0.25295	.	.	0.202915936708	0.00546	T	.	.	.	-0.687575	0.00043	T	-0.79051	0.02151	T	0.0212829370191823	0.00830	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	-1.803	0.02518	T	.	.	0.080	0.07841	B	.	.	-0.943135	0.00856	0.030	0.51618427193325223	0.04596	0.00659	0.02856	N	AEFBI	0.033601	0.04018	N	-1.75824916017505	0.00655	0.02827615	-2.00815151153331	0.00295	0.0129998	0.243931175949956	0.18603	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.4	-6.81	0.01543	-2.590000	0.00974	.	.	-1.283000	0.01266	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4517:0.2274:0.3209	7.535	0.26875	952	0.10565	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.013587	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	2955.43	38	chr19	8885665	.	T	C	2955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=562;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-2.086;SOR=0.825	GT:AD:DP:GQ:PL	0/1:91,108:199:99:2967,0,2391	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|1:293,74:413:99:0|1:8888826_T_*:2225,0,12080:8888826	2	0	8	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	515.45	40	chr19	8899972	.	T	C	515.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.927;DP=1142;ExcessHet=0.7463;FS=2.187;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.1;MQRankSum=-13.95;QD=0.81;ReadPosRankSum=-0.363;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,22:210:99:0|1:8899972_T_C:323,0,7808:8899972	7	0	3	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	473.45	40	chr19	8899974	.	G	A	473.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.234;DP=1156;ExcessHet=0.7463;FS=2.163;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.12;MQRankSum=-14.13;QD=0.73;ReadPosRankSum=-0.18;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,22:214:99:0|1:8899972_T_C:311,0,7976:8899972	7	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	421.44	40	chr19	8899979	.	G	T	421.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.2;DP=1185;ExcessHet=0.7463;FS=2.271;InbreedingCoeff=-0.176;MLEAC=3;MLEAF=0.15;MQ=59.14;MQRankSum=-14.64;QD=0.62;ReadPosRankSum=0.317;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,20:217:99:0|1:8899972_T_C:247,0,8212:8899972	7	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	867.56	40	chr19	8900001	.	C	T	867.56	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.397;DP=1750;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2495;MLEAC=4;MLEAF=0.2;MQ=59.02;MQRankSum=-14.38;QD=0.95;ReadPosRankSum=1.8;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,21:220:99:0|1:8900000_C_T:283,0,8272:8900000	6	0	4	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,21:235:99:0|1:8900000_C_T:238,0,8876:8900000	3	0	7	0
chr19	8913794	8913794	-	TGGTATG	exonic	MUC16	.	frameshift insertion	MUC16:NM_024690:exon17:c.37062_37063insCATACCA:p.T12355Hfs*96	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1408023747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	109.39	133	chr19	8913794	.	T	TTGGTATG	109.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.68;DP=951;ExcessHet=0;FS=1.083;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.14;MQRankSum=-10.77;QD=0.71;ReadPosRankSum=0.629;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,13:154:99:0|1:8913794_T_TTGGTATG:121,0,5851:8913794	9	0	1	0
chr19	8913797	8913803	ACACAGA	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon17:c.37054_37060del:p.S12352Pfs*89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1327054083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	85.39	133	chr19	8913796	.	GACACAGA	G	85.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.033;DP=959;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.23;MQRankSum=-11.07;QD=0.53;ReadPosRankSum=1.11;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,13:162:97:0|1:8913794_T_TTGGTATG:97,0,6187:8913794	9	0	1	0
chr19	8913808	8913808	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon17:c.A37049G:p.Q12350R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00242608576165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759620819	4.789e-06	5.472e-06	4.084e-06	5.502e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.132	0.26519	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.33	0.03889	N	0.086	0.06322	-0.9020	0.47782	T	0.004	0.01226	T	8	0.039474815	0.02440	T	0.002426	0.04757	T	0.029	0.06676	0.199	0.11247	0.0138822411134	0.00435	0.12891028179309774	0.12816	.	.	0.163704261184	0.00015	T	.	.	.	-0.461877	0.00957	T	-0.818366	0.01486	T	0.101391582637809	0.12509	T	0.0669933	0.00488	T	.	.	.	.	.	.	.	.	-0.541	0.00609	T	.	.	0.059	0.00793	B	.	.	-0.294309	0.02643	0.335	0.15538801178461156	0.00384	0.00338	0.01756	N	AEFBI	0.021699	0.00995	N	-2.14677206213676	0.00101	0.004315622	-2.20892277407453	0.00107	0.004697573	0.00161392486598595	0.08707	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-5.35	0.02488	-1.054000	0.03607	.	.	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.489:0.0:0.511	9.540	0.38411	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	133.43	146	chr19	8913808	.	T	C	133.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.503;DP=1055;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.21;MQRankSum=-11.1;QD=0.83;ReadPosRankSum=0.334;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,14:161:99:0|1:8913794_T_TTGGTATG:145,0,6090:8913794	9	0	1	0
chr19	8913809	8913809	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon17:c.C37048T:p.Q12350X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343794696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.647	0.65844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	9.825524	0.99351	43	0.91393941691125624	0.20660	0.01948	0.05923	N	AEFBI	0.019628	0.00699	N	-0.0950171539886091	0.37610	2.190638	-0.572942064464123	0.20199	1.087212	7.90230937884117E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-4.17	0.03595	0.024000	0.13447	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1432:0.1948:0.2692:0.3929	0.906	0.01203	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	130.43	146	chr19	8913809	.	G	A	130.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.497;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.22;MQRankSum=-11.14;QD=0.81;ReadPosRankSum=0.376;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,14:162:99:0|1:8913794_T_TTGGTATG:142,0,6127:8913794	9	0	1	0
chr19	8952999	8952999	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23771T:p.T7924M	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00131915574947	0.0002	.	0.0004	0	0.0009	0	0.0002	0.0004	0	0.0002	0.000304	47	154602	rs201509856	0.0003	0.0003	0.0003	0.0003	0.0059	0.0003	0.0002	0.0043	0.0038	0.0002	0.0010	0	0	1.873e-05	0.0059	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0005	0	0.0002	0	0.0034	0.0004	0.0005	0.0004	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	-1.11	0.28703	N	0.083	0.05929	-0.9042	0.47538	T	0.079	0.31466	T	8	0.028915823	0.01021	T	0.001319	0.01860	T	0.059	0.16972	.	.	0.290590437066	0.28656	0.0859577918344541	0.08529	.	.	0.188898384571	0.00206	T	.	.	.	-0.587777	0.00173	T	-0.662629	0.08089	T	0.0287179128233308	0.01795	T	0.319468	0.06419	T	.	.	.	.	.	.	.	.	-5.587	0.42674	T	.	.	0.084	0.09772	B	.	.	0.878587	0.12517	9.047	0.38050217989944235	0.02543	0.01884	0.05793	N	AEFBI	0.015952	0.00330	N	-0.350549341603676	0.27251	1.493698	-0.569674404847815	0.20285	1.092233	9.75075109686685E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.34	2.34	0.28071	0.580000	0.23505	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	8.242	0.30827	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.009511	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	2427.43	134	chr19	8952999	.	G	A	2427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=1211;ExcessHet=0;FS=3.239;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.074;SOR=0.501	GT:AD:DP:GQ:PL	0/1:107,94:201:99:2439,0,2578	9	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	272.26	125	chr19	9854801	.	G	C	272.26	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.834;DP=873;ExcessHet=0.2348;FS=206.967;InbreedingCoeff=-0.1687;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.16;SOR=10.125	GT:AD:DP:GQ:PL	0/1:68,28:99:99:152,0,1326	7	0	2	1
chr19	10631646	10631646	G	A	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon8:c.G517A:p.A173T,SLC44A2:NM_001363611:exon8:c.G523A:p.A175T,SLC44A2:NM_020428:exon8:c.G523A:p.A175T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00500901989889	.	.	8.271e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs760046078	6.843e-06	1.026e-05	5.447e-06	8.254e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0	5.797e-05	1.314e-05	1.313e-05	2.569e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0	0.751	0.03576	T	0.177	0.56192	T	0.002	0.09854	B	0.002	0.06944	B	0.000031	0.55875	D	0.118870	0.839216	0.35039	D	2.135	0.59519	M	2.21	0.18414	T	-0.34	0.12661	N	0.549	0.57946	-1.0525	0.13709	T	0.028	0.12103	T	10	0.14656931	0.27786	T	0.005009	0.12660	T	0.142	0.37995	0.422	0.46529	0.351180957027	0.34734	0.8066983716275047	0.80624	0.31972383323	0.34172	0.469737440348	0.34644	T	0.00571	0.14410	T	-0.166154	0.25818	T	-0.476445	0.24826	T	0.407502174377441	0.29224	T	0.919208	0.70896	D	0.08889599	0.20753	0.12194454	0.29418	0.08889599	0.20753	0.12194454	0.29417	-7.708	0.60694	D	.	.	0.299	0.52921	B	.;.;.;.;.	.;.;.;.;.	4.372976	0.67337	25.1	0.84242597941807129	0.15178	0.98308	0.81482	D	AEFGBI	0.741705	0.68556	D	-0.163665312308865	0.34656	1.980691	-0.0202575475888222	0.38800	2.291238	0.999996955087461	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.73	4.73	0.59485	6.716000	0.74519	11.733000	0.95036	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	16.687	0.85169	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2151.43	147	chr19	10631646	.	G	A	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=1665;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.073;SOR=0.795	GT:AD:DP:GQ:PL	0/1:120,86:206:99:2163,0,3030	9	0	1	0
chr19	11383211	11383211	C	T	exonic	EPOR	.	nonsynonymous SNV	EPOR:NM_000121:exon2:c.G137A:p.G46E	.	418	1072	31	1	0	33	0.0151585	.	.	.	342728	not_provided|Primary_familial_polycythemia_due_to_EPO_receptor_mutation	MedGen:C3661900|MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.138	.	0.0048	0.00419329	0.0056	0.0029	0.0029	0	0.0009	0.0065	0.0046	0.0107	0.0053233	823	154602	rs45516306	0.0071	0.0071	0.0070	0.0073	0.0114	0.0070	0.0070	0.0108	0.0106	0.0018	0.0037	0.0068	0	0.0009	0.0054	0.0077	0.0065	0.0114	0.0046	0.0046	0.0047	0.0045	0.0122	0.0043	0.0042	0.0097	0.0088	0.0016	0	0.0049	0.0052	0.0002	0.0008	0	0.0068	0.0043	0.0122	1.0	0.00964	T	0.548	0.10678	T	0.004	0.12183	B	0.009	0.14300	B	0.217787	0.16210	N	0.588615	1	0.08975	N	0.685	0.16464	N	-1.53	0.81559	D	-0.91	0.24460	N	0.084	0.06059	-0.9572	0.39699	T	0.125	0.42966	T	10	0.0049070716	0.00105	T	.	.	.	0.138	0.37187	.	.	0.564541561611	0.56117	0.6439902255400745	0.64334	1.05196235552	0.76184	0.47251406312	0.35026	T	0.216065	0.57812	T	-0.52474	0.00413	T	-0.518568	0.20440	T	0.00488103608185247	0.00052	T	0.614539	0.23442	T	0.12722376	0.29776	0.09064179	0.21267	0.12652256	0.29632	0.08392942	0.19272	-2.562	0.06220	T	.	.	0.084	0.10691	B	.;.	.;.	0.683896	0.10526	7.236	0.71319046514445861	0.09589	0.08374	0.14311	N	ALL	0.087113	0.17664	N	-1.27220848452605	0.04014	0.1803893	-1.27620343391686	0.04754	0.2249996	0.999934561351446	0.46732	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.93	-2.21	0.06581	-0.065000	0.11575	.	.	0.469000	0.21855	0.157000	0.23755	0.000000	0.08366	0.529000	0.29684	0.3403:0.2465:0.1679:0.2454	0.198	0.00132	856	0.34373	Growth hormone/erythropoietin receptor, ligand binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.022727	0.05	624.43	32	chr19	11383211	.	C	T	624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.972;DP=334;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.837;SOR=0.382	GT:AD:DP:GQ:PL	0/1:16,24:40:99:636,0,363	9	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	167.94	69	chr19	11405406	.	G	C	167.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.82;DP=544;ExcessHet=0.2348;FS=40.504;InbreedingCoeff=-0.2501;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=1;SOR=5.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:34:0|1:11405406_G_C:34,0,1517:11405406	4	0	2	4
chr19	13207859	13207873	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6961_6975del:p.Q2321_Q2325del	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	.	.	.	.	.	.	.	.	.	.	1687327	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1260368899	0.0046	0.0044	0.0047	0.0046	0.0047	0.0045	0.0045	0.0046	0.0046	0.0034	0.0009	0.0060	0.0008	0.0123	0.0032	0.0047	0.0039	0.0027	0.0053	0.0053	0.0052	0.0054	0.0060	0.0050	0.0049	0.0055	0.0053	0.0037	0.0033	0.0037	0.0073	0.0004	0.0119	0.0072	0.0060	0.0020	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6884.28	34	chr19	13207858	.	CCTGCTGCTGCTGCTG	C	6884.28	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.56;DP=264;ExcessHet=0.0405;FS=5.034;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.38;ReadPosRankSum=0.327;SOR=1.111	GT:AD:DP:GQ:PL	0/1:12,13:25:99:510,0,441	9	0	1	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.000000	0.024194	0.004425	0.000000	0.045455	0.011628	0.012500	0.1	5067.14	36	chr19	16736665	.	T	C	5067.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.831;DP=733;ExcessHet=0.2348;FS=1.114;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.1;SOR=0.599	GT:AD:DP:GQ:PL	0/1:124,111:235:99:2388,0,3026	8	0	2	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	0/1:35,22:57:99:500,0,828	8	0	2	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	0/1:0,18:26:99:1640,241,131	2	1	7	0
chr19	31279167	31279167	G	A	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.C626T:p.T209M	.	.	.	.	.	.	.	.	.	.	.	3487002	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.452	0.0498371643909	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1210168815	1.917e-05	1.984e-05	2.315e-05	1.514e-05	3.479e-05	1.329e-05	1.144e-05	1.461e-05	1.228e-05	2.989e-05	0	0	0	0	0	2.16e-05	0	3.479e-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	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.055638	1	0.81001	D	2.175	0.60977	M	2.04	0.20808	T	-3.2	0.64710	D	0.861	0.85766	-0.7918	0.55624	T	0.170	0.51133	T	10	0.82841927	0.82012	D	0.049837	0.63984	D	0.452	0.75211	.	.	0.501308276186	0.49768	0.6108650900503092	0.61018	1.0736861455	0.76906	0.876175522804	0.93438	D	0.714105	0.91868	D	0.080176	0.62061	D	-0.0589633	0.66405	T	0.970334053039551	0.68911	D	0.997	0.98879	D	0.44393432	0.63655	0.45563993	0.68354	0.44393432	0.63656	0.45563993	0.68355	-11.826	0.83993	D	.	.	0.814	0.77921	P	.	.	4.849901	0.79257	27.1	0.99881475483367532	0.95733	0.98847	0.87641	D	AEFDBI	0.910360	0.86818	D	0.930927006735151	0.93192	11.87881	0.893710830782997	0.95292	13.48612	0.999999999527102	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.42	5.42	0.78666	9.597000	0.97445	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.215	0.93760	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2914.43	35	chr19	31279167	.	G	A	2914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=578;ExcessHet=0;FS=5.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.748;SOR=1.071	GT:AD:DP:GQ:PL	0/1:110,112:222:99:2926,0,2581	9	0	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 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	0.010585	0.050505	0.000000	0.011765	0.000000	0.000000	0.018405	0.000000	0.05	57.43	84	chr19	32999594	.	C	T	57.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=1023;ExcessHet=0;FS=8.599;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=53.25;MQRankSum=-4.052;QD=0.65;ReadPosRankSum=-2.496;SOR=1.515	GT:AD:DP:GQ:PL	0/1:79,10:89:69:69,0,2333	9	0	1	0
chr19	33215893	33215893	C	T	exonic	SLC7A10	.	nonsynonymous SNV	SLC7A10:NM_019849:exon2:c.G232A:p.V78I	.	419	1101	2	0	0	2	0.000907441	.	.	.	2333088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0202656663744	7.7e-05	0.000199681	7.299e-05	0.0001	0	0.0003	0	6.595e-05	0	0	5.17e-05	8	154602	rs370643237	4.045e-05	4.036e-05	3.545e-05	4.55e-05	0.0002	3.185e-05	2.917e-05	3.462e-05	3.124e-05	0	4.499e-05	0	2.522e-05	1.893e-05	0.0002	4.501e-05	4.976e-05	1.17e-05	8.534e-05	8.53e-05	0.0001	6.713e-05	0.0004	4.953e-05	3.959e-05	6.842e-05	2.863e-05	4.811e-05	0	0.0002	0	0.0004	0	0	8.82e-05	0	0	0.363	0.11807	T	0.515	0.10643	T	0.008	0.14655	B	0.03	0.21741	B	0.067094	0.21765	N	0.493565	0.568163	0.32271	D	0.795	0.19620	N	-2.68	0.90391	D	-0.63	0.18459	N	0.223	0.25006	-0.6636	0.62117	T	0.440	0.77827	T	10	0.12036559	0.22796	T	0.020266	0.42829	T	0.171	0.43483	.	.	0.621853638575	0.61878	0.332912045256687	0.33204	0.332056083419	0.35265	0.390078693628	0.23680	T	0.285982	0.65877	T	-0.197338	0.21190	T	-0.336596	0.40729	T	0.0237407413877736	0.01113	T	0.852415	0.53747	D	0.059362926	0.12056	0.06493065	0.13085	0.059362926	0.12055	0.06493065	0.13084	-6.099	0.47100	T	.	.	0.071	0.03925	B	.	.	2.721479	0.35600	19.94	0.97893996669518679	0.36690	0.70374	0.34564	D	AEFDGBI	0.251389	0.37126	N	-0.564818403238559	0.20021	1.052387	-0.407857279743887	0.24766	1.358077	0.195680510041145	0.18055	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.79	1.5	0.22029	0.603000	0.23848	1.833000	0.29130	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.5084:0.0:0.4916	5.939	0.18419	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	601.43	35	chr19	33215893	.	C	T	601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.232;DP=397;ExcessHet=0;FS=0.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=1.28;SOR=0.66	GT:AD:DP:GQ:PL	0/1:51,29:80:99:613,0,1193	9	0	1	0
chr19	34958015	34958015	C	T	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1840A:p.A614T	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0002	0.0197684	0.0113	0.0002	0.0010	0.0100	0	0.0003	0.0085	0.0785	0.0095212	1472	154602	rs200278064	0.0047	0.0047	0.0029	0.0065	0.0703	0.0046	0.0046	0.0688	0.0682	0.0003	0.0005	0.0013	0.0070	0.0003	0.0035	0.0001	0.0060	0.0703	0.0028	0.0028	0.0015	0.0041	0.0728	0.0026	0.0025	0.0665	0.0640	0.0002	0	0.0001	0.0026	0.0071	0	0	0.0001	0.0019	0.0728	0.084	0.32929	T	0.372	0.19362	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.2	0.10136	N	0.14	0.13911	-0.9359	0.43257	T	0.008	0.02926	T	9	0.0024052262	0.00036	T	.	.	.	0.033	0.08068	.	.	.	.	0.13585855362880117	0.13509	0.247095792662	0.27244	0.224681705236	0.01598	T	0.002028	0.10204	T	-0.646089	0.00076	T	-0.648189	0.09081	T	0.0184147399786136	0.00558	T	0.390461	0.09684	T	0.036278095	0.04431	0.05228279	0.08582	0.036278095	0.04430	0.05228279	0.08581	-2.71	0.07387	T	.	.	0.069	0.03093	B	.;.	.;.	1.257329	0.16549	12.61	0.99372635559404843	0.61498	0.00058	0.00432	N	AEFDBHCI	0.031105	0.03259	N	-1.10928015456417	0.06477	0.2982812	-1.15851108829091	0.06616	0.3190628	0.317559909742204	0.19351	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.64	0.355	0.15305	0.283000	0.18605	-2.383000	0.03823	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2321:0.3876:0.2278:0.1524	1.006	0.01394	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.026515	0.05	1295.43	34	chr19	34958015	.	C	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.676;DP=647;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.789;SOR=0.601	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1307,0,1201	9	0	1	0
chr19	34958041	34958041	C	G	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1814C:p.S605T	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	7.7e-05	0.0197684	0.0112	0.0002	0.0009	0.0099	0	4.833e-05	0.0085	0.0772	0.0093919	1452	154602	rs201800628	0.0046	0.0046	0.0028	0.0064	0.0702	0.0045	0.0045	0.0687	0.0681	0.0003	0.0005	0	0.0070	0	0.0028	3.239e-05	0.0057	0.0702	0.0027	0.0027	0.0014	0.0040	0.0732	0.0025	0.0024	0.0669	0.0644	0.0002	0	0.0001	0	0.0071	0	0	5.879e-05	0.0019	0.0732	0.855	0.02705	T	0.479	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.37	0.05847	T	-0.01	0.07155	N	0.142	0.14196	-0.9333	0.43650	T	0.006	0.02055	T	9	0.0021786094	0.00031	T	.	.	.	0.012	0.01476	.	.	.	.	0.0653250227160099	0.06471	0.16430499449	0.18538	0.245909079909	0.03349	T	4.45E-4	0.05823	T	-0.734228	0.00022	T	-0.774795	0.02614	T	0.000397459311521812	0.00003	T	0.160684	0.01448	T	0.023038864	0.01011	0.03799009	0.03572	0.023038864	0.01010	0.03799009	0.03571	-3.949	0.23038	T	.	.	0.068	0.03625	B	.;.	.;.	0.131981	0.05276	1.772	0.60119208613842268	0.06386	0.00090	0.00598	N	AEFDBHCI	0.038494	0.05455	N	-1.80736661476347	0.00527	0.02270495	-1.85435263990769	0.00600	0.02666944	0.654660405635976	0.22203	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.27	-3.6	0.04277	-0.933000	0.04067	-5.939000	0.01546	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.231000	0.22761	0.1689:0.4061:0.1664:0.2586	1.076	0.01530	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.026515	0.05	1342.43	34	chr19	34958041	.	C	G	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.259;DP=641;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-2.625;SOR=0.558	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1354,0,1107	9	0	1	0
chr19	35033703	35033703	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.G412A:p.V138I,SCN1B:NM_001321605:exon3:c.G313A:p.V105I,SCN1B:NM_199037:exon3:c.G412A:p.V138I	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	178737	Long_QT_syndrome|Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|SCN1B-related_disorder|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|.|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.262	.	0.0002	0.0209665	0.0117	0.0011	0.0008	0.0057	0	0.0001	0.0155	0.0804	0.0103621	1602	154602	rs72558029	0.0052	0.0052	0.0031	0.0072	0.0784	0.0051	0.0050	0.0768	0.0762	0.0007	0.0003	0	0.0030	1.872e-05	0.0035	8.453e-05	0.0086	0.0784	0.0034	0.0035	0.0020	0.0049	0.0882	0.0032	0.0031	0.0813	0.0785	0.0009	0	0.0002	0	0.0085	0	0	5.88e-05	0.0052	0.0882	0.398	0.26085	T	0.643	0.24477	T	0.279	0.52105	B	0.013	0.45631	B	0.058319	0.22412	N	0.436536	0.989249	0.40915	D	0.445	0.12748	N	-4.53	0.97713	D	-0.53	0.16393	N	0.041	0.01421	0.604	0.91953	D	0.795	0.93057	D	10	0.0017569363	0.00023	T	.	.	.	0.262	0.57482	.	.	.	.	0.6908096357470496	0.69020	0.712814376389	0.61783	0.553019821644	0.46284	T	0.075724	0.35245	T	-0.332975	0.05890	T	-0.191892	0.55411	T	0.00667188954088941	0.00075	T	0.755224	0.39577	T	0.068868704	0.15040	0.051318746	0.08236	0.089256935	0.20848	0.051318746	0.08236	-3.791	0.29312	T	0.11411305614658733	0.10062	0.075	0.26638	B	.;.;.;.;.	.;.;.;.;.	2.971009	0.39600	21.0	0.99838461454441818	0.91886	0.75004	0.36706	D	AEFBI	0.187454	0.31475	N	-0.0515020911810638	0.39536	2.333031	0.0647403313162013	0.42791	2.594436	0.958561964384985	0.28371	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	2.945000	0.48735	5.616000	0.49070	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.276	0.54054	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.045455	0.05	3318.43	40	chr19	35033703	.	G	A	3318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=619;ExcessHet=0;FS=0.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.113;SOR=0.741	GT:AD:DP:GQ:PL	0/1:163,134:297:99:3330,0,3900	9	0	1	0
chr19	35615272	35615272	G	A	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon6:c.G371A:p.R124H	.	.	.	.	.	.	.	.	.	.	.	3682192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00551338936702	.	.	5.214e-05	0	0	0.0002	0	6.27e-05	0	0	3.88e-05	6	154602	rs766423063	2.258e-05	2.257e-05	2.859e-05	1.65e-05	7.557e-05	1.61e-05	1.417e-05	2.004e-05	1.15e-05	2.987e-05	0	0	7.557e-05	3.753e-05	0	2.068e-05	4.968e-05	1.16e-05	3.285e-05	3.283e-05	3.854e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0.0002	0.617	0.05357	T	0.121	0.35840	T	0.013	0.16609	B	0.004	0.10090	B	0.136159	0.18456	N	0.593826	1	0.08975	N	1.6	0.40776	L	1.47	0.31987	T	0.48	0.03041	N	0.262	0.29659	-1.0327	0.19586	T	0.055	0.23072	T	10	0.03557688	0.01812	T	0.005513	0.14197	T	0.025	0.05312	0.341	0.33302	0.221734844693	0.21761	0.4733317307521494	0.47252	0.264401177313	0.28988	0.27648037672	0.07007	T	0.00468	0.04092	T	-0.416049	0.01813	T	-0.6097	0.12010	T	0.0655163031390108	0.08007	T	0.761624	0.38671	T	0.019150298	0.00441	0.024246376	0.00441	0.019150298	0.00441	0.024246376	0.00441	-4.219	0.27026	T	.	.	0.075	0.05711	B	.	.	2.176805	0.27743	17.57	0.96535929960015787	0.30168	0.30683	0.24145	N	AEFBI	0.090739	0.18385	N	-0.545435280842682	0.20627	1.088763	-0.478862891432013	0.22737	1.236436	0.00309560428675037	0.09922	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.84	1.31	0.20837	1.178000	0.31590	0.188000	0.15711	0.671000	0.69459	0.783000	0.29509	0.000000	0.08366	0.953000	0.50222	0.2705:0.0:0.7295:0.0	8.811	0.34124	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1347.43	41	chr19	35615272	.	G	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=495;ExcessHet=0;FS=4.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.022;SOR=1.054	GT:AD:DP:GQ:PL	0/1:77,57:134:99:1359,0,1843	9	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	1219.23	94	chr19	37887093	.	A	G	1219.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-4.045;DP=912;ExcessHet=2.8389;FS=220.707;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.746;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,30:111:99:0|1:37887093_A_G:467,0,2935:37887093	4	0	5	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,31:113:99:0|1:37887093_A_G:488,0,2939:37887093	0	0	6	4
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1987.18	91	chr19	37887096	.	A	G	1987.18	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.166;DP=879;ExcessHet=2.8389;FS=279.749;InbreedingCoeff=-0.5261;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=0.833;SOR=9.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,31:111:99:0|1:37887093_A_G:494,0,2871:37887093	2	0	5	3
chr19	38320264	38320264	C	T	exonic	KCNK6	.	nonsynonymous SNV	KCNK6:NM_004823:exon1:c.C314T:p.T105I	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	.	.	0.00379393	0.0031	0.0001	0.0003	0	0	0.0003	0.0036	0.0202	0.0024967	386	154602	rs201520164	0.0014	0.0014	0.0008	0.0019	0.0197	0.0013	0.0013	0.0189	0.0186	6.024e-05	0.0007	0.0003	2.532e-05	0	0.0035	0.0001	0.0018	0.0197	0.0008	0.0008	0.0005	0.0010	0.0163	0.0006	0.0006	0.0134	0.0124	0	0	0.0015	0.0006	0	0	0.0102	0.0001	0.0005	0.0163	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.978	0.74104	D	0.000001	0.84330	D	0.054079	0.999999	0.58761	D	2.645	0.77386	M	1.23	0.36872	T	-4.47	0.77881	D	0.82	0.81559	-0.4025	0.71948	T	0.263	0.63405	T	10	0.011172533	0.00245	T	.	.	.	0.338	0.66010	.	.	0.67526397899	0.67251	0.9613861708462629	0.96124	0.45283389639	0.44990	0.762634932995	0.76322	T	0.801009	0.94926	D	-0.281556	0.10503	T	-0.162275	0.58147	T	0.310088872909546	0.25418	T	0.874313	0.58483	D	0.88425577	0.90020	0.7882379	0.87537	0.88425577	0.90021	0.7882379	0.87537	-12.015	0.84925	D	.	.	0.969	0.89197	P	.	.	5.528987	0.91856	32	0.99838099389374102	0.91886	0.88725	0.48791	D	ALL	0.467504	0.51470	N	0.756002455077173	0.83297	7.980286	0.657682372197412	0.79184	7.02907	0.999999928797158	0.74766	0.789315	0.99827	0	0.748881	0.99253	0	0.768056	0.98339	0	0.618803	0.45993	0	.	.	4.57	3.48	0.38946	4.937000	0.63213	5.966000	0.51911	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8162:0.1838:0.0	12.440	0.54956	607	0.67291	Potassium channel 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	0.003528	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	780.43	33	chr19	38320264	.	C	T	780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.518;DP=363;ExcessHet=0;FS=10.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.34;SOR=0.145	GT:AD:DP:GQ:PL	0/1:20,37:57:99:792,0,499	9	0	1	0
chr19	38362267	38362267	G	C	exonic	CATSPERG	.	nonsynonymous SNV	CATSPERG:NM_001330496:exon17:c.G2032C:p.D678H,CATSPERG:NM_021185:exon18:c.G2152C:p.D718H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.022606607569	.	.	2.812e-05	0	0	0	0	5.151e-05	0	0	1.94e-05	3	154602	rs778867060	1.506e-05	1.505e-05	1.362e-05	1.651e-05	0.0002	9.86e-06	8.42e-06	9.32e-06	7.62e-06	0	2.238e-05	0	0	0	0.0002	1.529e-05	4.977e-05	0	6.574e-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	0.16	0.24090	T	0.181	0.29346	T	0.971	0.57185	D	0.875	0.62107	P	0.219940	0.16162	N	0.550566	1	0.22348	N	1.87	0.49600	L	1.13	0.38556	T	-1.5	0.36586	N	0.615	0.63120	-1.0204	0.23584	T	0.127	0.43421	T	10	0.23514801	0.40570	T	0.022607	0.45515	T	0.062	0.17934	0.341	0.33302	0.213573922156	0.20996	0.5404564624201001	0.53970	2.02551538596	0.94040	0.420376002789	0.27888	T	0.02877	0.20767	T	-0.261193	0.12760	T	-0.453485	0.27313	T	0.0607620105147362	0.07288	T	0.70043	0.31009	T	0.055918846	0.10932	0.04745525	0.06840	0.055918846	0.10931	0.04745525	0.06840	-3.694	0.19230	T	.	.	0.374	0.58066	A	.;.	.;.	2.002627	0.25446	16.76	0.98059599497142336	0.37936	0.06500	0.12510	N	ALL	0.092834	0.18790	N	-0.605178544570238	0.18788	0.9782331	-0.764732146120991	0.15361	0.8074878	0.999997904221317	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.618803	0.45993	0	.	.	4.61	-0.999	0.09686	-0.289000	0.08401	0.694000	0.20791	0.590000	0.31872	0.000000	0.06391	0.151000	0.23179	0.003000	0.05239	0.0968:0.1552:0.4306:0.3174	2.625	0.04628	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	772.43	35	chr19	38362267	.	G	C	772.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.386;DP=371;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.74;SOR=0.471	GT:AD:DP:GQ:PL	0/1:31,31:62:99:784,0,749	9	0	1	0
chr19	41414125	41414125	C	T	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon4:c.C452T:p.T151M,BCKDHA:NM_001164783:exon4:c.C452T:p.T151M	Maple syrup urine disease, type Ia, Autosomal recessive	1	1439	78	4	0	86	0.0290148	.	.	YES	99268	Maple_syrup_urine_disease|not_specified|Maple_syrup_urine_disease_type_1A|not_provided	MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:CN169374|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	.	0.0075	0.00419329	0.0108	0.0018	0.0035	0.0001	0.0296	0.0145	0.0113	0.0050	0.0100775	1558	154602	rs34442879	0.0090	0.0090	0.0090	0.0089	0.0468	0.0088	0.0088	0.0422	0.0404	0.0019	0.0044	0.0054	2.519e-05	0.0251	0.0468	0.0090	0.0093	0.0054	0.0079	0.0079	0.0071	0.0087	0.0103	0.0075	0.0073	0.0097	0.0094	0.0015	0	0.0051	0.0040	0.0004	0.0261	0.0612	0.0103	0.0123	0.0041	0.02	0.56456	D	0.044	0.49663	D	0.963	0.55692	D	0.622	0.51475	P	0.000089	0.51296	D	0.167160	0.927282	0.39958	D	1.845	0.48678	L	-3.88	0.95953	D	-1.21	0.31375	N	0.185	0.34012	0.800	0.94407	D	0.837	0.94546	D	10	0.017781347	0.00382	T	.	.	.	0.434	0.73951	.	.	.	.	0.7002436206164835	0.69965	1.23621605308	0.85030	0.532821595669	0.43432	T	0.534257	0.83937	D	-0.208204	0.19633	T	-0.0608155	0.66276	T	0.0228603141182863	0.01008	T	0.928207	0.73493	D	0.15023611	0.34212	0.08159312	0.18555	0.15023611	0.34212	0.08159312	0.18554	-5.983	0.49852	T	0.289193797445513	0.38554	0.089	0.31532	B	.;.;.;.	.;.;.;.	3.389103	0.46917	22.4	0.99873433679432777	0.95076	0.68246	0.33730	D	AEFBI	0.639883	0.61778	D	0.332885079307658	0.57843	3.953436	0.299358951351295	0.55501	3.713204	0.987086427242392	0.31181	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	1.309000	0.33145	3.999000	0.41057	0.599000	0.40250	0.226000	0.24601	0.994000	0.32194	0.989000	0.64315	0.0:1.0:0.0:0.0	16.831	0.85808	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19	Adipose_Subcutaneous|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|LTBP4|LTBP4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	.	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	0.035282	0.020202	0.040761	0.093567	0.050000	0.017241	0.015244	0.007576	0.05	941.43	39	chr19	41414125	.	C	T	941.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.031;DP=390;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.73;SOR=0.969	GT:AD:DP:GQ:PL	0/1:18,39:57:99:953,0,342	9	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	424.85	82	chr19	42095399	.	C	G	424.85	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.357;DP=824;ExcessHet=0.7463;FS=238.433;InbreedingCoeff=-0.2273;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=-0.96;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,16:93:96:.:.:96,0,1542:.	6	0	3	1
chr19	44892888	44892888	G	A	exonic	TOMM40	.	nonsynonymous SNV	TOMM40:NM_001128917:exon3:c.G394A:p.G132R,TOMM40:NM_001128916:exon4:c.G394A:p.G132R,TOMM40:NM_006114:exon4:c.G394A:p.G132R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.142130106639	.	.	8.315e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs750526666	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.64786	D	0.999	0.77913	D	0.951	0.71173	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.275	0.90144	M	0.84	0.47477	T	-5.16	0.83422	D	0.846	0.84194	-0.2161	0.77255	T	0.341	0.70648	T	10	0.922724	0.91624	D	0.14213	0.82452	D	0.615	0.84986	0.792	0.91365	0.583166538999	0.57988	.	.	0.208935064865	0.23359	0.765007138252	0.76677	T	0.338988	0.70818	T	0.121078	0.66480	D	0.105272	0.77258	D	0.980931347966373	0.73629	D	0.90231	0.67171	D	0.93511105	0.94751	0.8334214	0.90408	0.93511105	0.94751	0.8334214	0.90409	-14.593	0.94824	D	.	.	0.991	0.95886	P	.;.;.;.;.	.;.;.;.;.	5.820117	0.93695	33	0.99921330901934668	0.98787	0.95035	0.63201	D	AEFBHC	0.928417	0.91259	D	0.740202579240378	0.82265	7.720245	0.654042618046364	0.78912	6.972725	0.999999993550998	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.12	4.06	0.46572	6.157000	0.71647	.	.	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1612:0.8388:0.0	13.258	0.59519	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	.	.	.	.	.	.	.	.	0.05	1410.43	98	chr19	44892888	.	G	A	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=670;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.339;SOR=0.446	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1422,0,1509	9	0	1	0
chr19	47802409	47802409	A	C	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.T602G:p.V201G	.	.	.	.	.	.	.	.	.	.	.	2735427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00423765404556	.	.	5.469e-05	0	0	0	0	0.0001	0	0	7.68e-05	2	26028	rs200748871	4.503e-05	8.003e-05	4.636e-05	4.367e-05	0.0002	3.464e-05	3.126e-05	0.0001	7.873e-05	4.244e-05	3.507e-05	5.33e-05	0.0002	9.673e-05	0	2.575e-05	8.983e-05	0.0002	0.0004	0.0009	0.0003	0.0004	0.0016	0.0003	0.0002	0.0005	0.0003	0.0006	0	0.0003	0	0.0016	0	0	0.0002	0	0.0005	0.571	0.09430	T	0.388	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.0	0.41392	T	0.96	0.04091	N	0.034	0.07949	-1.0325	0.19650	T	0.038	0.16246	T	8	0.017377675	0.00371	T	0.004238	0.10247	T	0.016	0.02506	.	.	0.0401082797425	0.02173	0.11663670961732966	0.11591	0.0772875809066	0.08693	0.31706649065	0.12976	T	0.009287	0.08464	T	-0.55859	0.00259	T	-0.732736	0.04205	T	0.00423360126837781	0.00045	T	0.0366963	0.00254	T	0.048329886	0.08406	0.12003961	0.28972	0.048329886	0.08406	0.12003961	0.28971	2.341	0.00038	T	.	.	0.055	0.00390	B	.;.;.	.;.;.	-0.794307	0.01118	0.051	0.20255595652771158	0.00720	0.00032	0.00291	N	AEFDBI	0.017397	0.00453	N	-2.10881371858474	0.00122	0.005240635	-2.18713165531064	0.00120	0.005257149	0.0455254057432558	0.14655	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.401	-0.802	0.10340	-2.510000	0.01035	-4.269000	0.02247	-3.175000	0.00114	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019576	0.018750	0.027473	0.019084	0.000000	0.020000	0.017699	0.013699	0.05	900.43	47	chr19	47802409	.	A	C	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=407;ExcessHet=0;FS=2.499;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=0.462;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,25:47:99:0|1:47802394_G_A:912,0,783:47802394	9	0	1	0
chr19	48121298	48121298	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon22:c.G2053A:p.V685M,LIG1:NM_001289063:exon23:c.G2164A:p.V722M,LIG1:NM_001320971:exon23:c.G2167A:p.V723M,LIG1:NM_000234:exon24:c.G2257A:p.V753M,LIG1:NM_001320970:exon24:c.G2254A:p.V752M	DNA ligase I deficiency (3)	402	1073	44	3	0	50	0.0227687	.	.	.	705135	not_provided|LIG1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.267	.	0.0045	0.00519169	0.0072	0.0013	0.0075	0.0004	0.0027	0.0099	0.0081	0.0049	0.0067658	1046	154602	rs146309259	0.0075	0.0075	0.0076	0.0074	0.0282	0.0074	0.0074	0.0247	0.0233	0.0010	0.0069	0.0111	0.0003	0.0031	0.0282	0.0082	0.0086	0.0043	0.0063	0.0063	0.0065	0.0060	0.0091	0.0059	0.0058	0.0085	0.0082	0.0018	0.0724	0.0059	0.0112	0.0006	0.0018	0.0374	0.0091	0.0066	0.0044	0.052	0.39097	T	0.044	0.76473	D	0.254	0.77913	B	0.034	0.64984	B	0.000049	0.53742	D	0.121396	0.999997	0.81001	D	0.21	0.09513	N	0.48	0.57729	T	-2.72	0.57920	D	0.544	0.57092	-0.8443	0.52359	T	0.162	0.49748	T	10	0.009888917	0.00222	T	.	.	.	0.267	0.58126	.	.	0.486707162081	0.48303	0.6877962717568229	0.68719	0.52801659779	0.50392	0.702495098114	0.67505	T	0.564074	0.85457	D	-0.329051	0.06184	T	-0.232462	0.51533	T	0.0459140205099629	0.04768	T	0.989301	0.96474	D	0.16692582	0.37058	0.09929493	0.23703	0.16692582	0.37057	0.09929493	0.23703	-10.761	0.85868	D	.	.	0.132	0.34754	B	.;.;.;.	.;.;.;.	3.443177	0.47909	22.5	0.99730661908994123	0.82761	0.93628	0.58739	D	AEFDBI	0.624604	0.60811	D	-0.16406644344385	0.34637	1.979539	-0.107215287758839	0.35099	2.026604	0.99999999158571	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.29	4.25	0.49658	5.365000	0.65866	1.025000	0.23435	-0.218000	0.08083	1.000000	0.71638	0.467000	0.25033	0.218000	0.22407	0.1579:0.8421:0.0:0.0	13.463	0.60692	846	0.36215	DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central;.;.	.	.	.	.	rs146309259	Likely benign	0	0	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	0.021148	0.010101	0.028533	0.026316	0.050000	0.025862	0.021341	0.015152	0.05	621.43	34	chr19	48121298	.	C	T	621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.7;DP=288;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.049;SOR=0.38	GT:AD:DP:GQ:PL	0/1:12,25:37:99:633,0,255	9	0	1	0
chr19	49651512	49651512	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G1123A:p.G375S	.	417	1104	1	0	0	1	0.000452694	.	.	.	3316975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.229150613755	.	0.000199681	0.0004	0	0	0	0	0.0004	0	0.0008	0.0001552	24	154602	rs572089161	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0006	0.0006	0	0.0002	0.0010	0	0	0.0013	0.0001	0.0003	0.0008	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.732e-05	0.0002	0.0001	4.828e-05	0	6.548e-05	0.0009	0	0	0	0.0002	0	0.0006	0.005	0.63226	D	0.433	0.13595	T	0.011	0.15914	B	0.015	0.17295	B	0.232996	0.15878	N	0.526148	1	0.08975	N	0.805	0.20218	L	1.12	0.38718	T	-0.65	0.18877	N	0.231	0.25989	-1.0496	0.14509	T	0.060	0.24981	T	9	0.02151668	0.00516	T	0.229151	0.88171	D	0.008	0.00669	.	.	0.0675242888579	0.06100	0.28996675754906764	0.28909	0.628977153861	0.56955	0.876125812531	0.93432	D	0.025432	0.19020	T	-0.450458	0.01122	T	-0.497816	0.22574	T	0.0425427037674954	0.04154	T	0.511749	0.16382	T	0.051017817	0.09307	0.05866094	0.10878	0.051017817	0.09307	0.05866094	0.10877	-3.92	0.22602	T	.	.	0.082	0.08851	B	.	.	2.271346	0.29029	17.99	0.87114068048166138	0.16998	0.39815	0.26297	N	AEFDBI	0.101416	0.20370	N	-0.69676448409675	0.16114	0.8181229	-0.670036593030106	0.17712	0.9429877	0.550870969481843	0.21333	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.47	1.95	0.25130	2.452000	0.44619	2.721000	0.34312	0.590000	0.31872	0.991000	0.37257	0.998000	0.33993	0.235000	0.22869	0.12:0.0:0.6916:0.1884	5.473	0.15975	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001542	0.000000	0.004110	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	466.43	33	chr19	49651512	.	G	A	466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.907;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.918;SOR=0.704	GT:AD:DP:GQ:PL	0/1:15,20:35:99:478,0,383	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	0/1:117,39:156:46:46,0,2685	8	0	2	0
chr19	52034081	52034081	C	T	exonic	ZNF432	.	nonsynonymous SNV	ZNF432:NM_001322284:exon5:c.G1598A:p.R533Q,ZNF432:NM_001322285:exon5:c.G1598A:p.R533Q,ZNF432:NM_014650:exon5:c.G1598A:p.R533Q	.	402	1114	6	0	0	6	0.00268577	.	.	.	705216	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0089	0.00579073	0.0074	0.0026	0.0054	0.0001	0.0178	0.0100	0.0154	0.0007	0.0077101	1192	154602	rs117633649	0.0090	0.0090	0.0090	0.0089	0.0113	0.0088	0.0088	0.0096	0.0096	0.0016	0.0083	0.0013	5.038e-05	0.0201	0.0113	0.0098	0.0090	0.0008	0.0079	0.0079	0.0073	0.0086	0.0160	0.0075	0.0074	0.0144	0.0137	0.0019	0.0110	0.0160	0.0006	0.0002	0.0201	0.0068	0.0092	0.0099	0.0010	0.013	0.53900	D	0.027	0.55341	D	0.988	0.62325	D	0.569	0.49832	P	.	.	.	.	0.999734	0.20548	N	1.165	0.29723	L	1.84	0.24656	T	-2.89	0.60665	D	0.185	0.26837	-1.0703	0.09348	T	0.049	0.20750	T	9	0.0055719614	0.00123	T	.	.	.	0.118	0.32913	.	.	0.298056030225	0.29408	0.06553176725640754	0.06492	0.313201615579	0.33613	0.413404345512	0.26928	T	0.102706	0.41069	T	-0.566776	0.00231	T	-0.576523	0.14858	T	0.0355470686176569	0.02901	T	0.275372	0.04709	T	0.2838641	0.51416	0.24361204	0.49809	0.2838641	0.51416	0.24361204	0.49808	-6.198	0.47907	T	.	.	0.403	0.59854	A	.;.	.;.	3.605418	0.50945	23.0	0.99951997338411658	0.99951	0.00131	0.00809	N	AEFDGBHCI	0.143086	0.26570	N	0.0608843360165002	0.44645	2.734748	-0.0710903196948234	0.36591	2.131401	0.30805057368628	0.19258	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.81	2.81	0.31971	-1.130000	0.03353	.	.	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.7867:0.2133:0.0	9.779	0.39806	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.020468	0.000000	0.000000	0.000000	0.003788	0.05	1139.43	35	chr19	52034081	.	C	T	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.647;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.527;SOR=0.737	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1151,0,1217	9	0	1	0
chr19	52322814	52322814	C	T	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.C1435T:p.R479C,ZNF480:NM_001297625:exon4:c.C1333T:p.R445C,ZNF480:NM_144684:exon5:c.C1564T:p.R522C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00373538716359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997457483	3.299e-05	3.283e-05	3.279e-05	3.319e-05	7.576e-05	2.555e-05	2.259e-05	2.839e-05	2.517e-05	2.997e-05	4.507e-05	0	7.576e-05	0	0	3.792e-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	0.106	0.29688	T	0.072	0.48594	T	0.999	0.77913	D	0.789	0.57669	P	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.14	0.19450	T	-2.3	0.51157	N	0.064	0.07949	-1.0614	0.11410	T	0.068	0.27879	T	9	0.15304208	0.28897	T	0.003735	0.08651	T	0.055	0.15663	0.62	0.75461	0.203808441222	0.19973	0.1312030350919284	0.13045	0.375685216108	0.39028	0.229436218739	0.01927	T	0.03811	0.24721	T	-0.28755	0.09883	T	-0.650822	0.08897	T	0.214945079449722	0.21208	T	0.288571	0.05217	T	0.08718202	0.20291	0.05358357	0.09054	0.08718202	0.20290	0.05358357	0.09054	-5.534	0.42856	T	.	.	0.538	0.66286	A	.;.;.	.;.;.	1.904491	0.24190	16.30	0.99211356394692396	0.55594	0.00019	0.00214	N	AEFGBCI	0.029688	0.02848	N	-0.93873745593251	0.09947	0.4730843	-1.14324779735726	0.06889	0.3332095	0.00133316644986829	0.08454	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	2.25	1.18	0.20058	-2.225000	0.01295	.	.	-0.506000	0.05009	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.0:0.7119:0.0:0.2881	6.046	0.18986	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1719.43	44	chr19	52322814	.	C	T	1719.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=518;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.444;SOR=0.589	GT:AD:DP:GQ:PL	0/1:69,67:136:99:1731,0,1567	9	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	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	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.1	1041.14	44	chr19	53267316	.	G	C	1041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.954;DP=817;ExcessHet=0.2348;FS=2.179;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=50.6;MQRankSum=-9.454;QD=2.36;ReadPosRankSum=3.25;SOR=0.573	GT:AD:DP:GQ:PL	0/1:168,65:233:99:894,0,4678	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	0/1:243,44:287:99:469,0,6751	3	0	6	1
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	13352.9	36	chr19	54752378	.	A	T	13352.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.661;DP=2061;ExcessHet=0.0952;FS=1.132;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=54.42;MQRankSum=-18.14;QD=9.48;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	0/1:355,58:413:99:387,0,10053	5	2	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	15224.9	36	chr19	54752434	.	G	C	15224.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.173;DP=2440;ExcessHet=0.0952;FS=14.799;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.51;MQRankSum=-21.06;QD=8.6;ReadPosRankSum=0.272;SOR=1.201	GT:AD:DP:GQ:PL	0/1:492,62:554:99:1066,0,13583	5	2	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	20676.9	36	chr19	54752445	.	C	T	20676.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.537;DP=2468;ExcessHet=0.0952;FS=18.645;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.72;MQRankSum=-21.3;QD=11.38;ReadPosRankSum=-0.49;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:512,57:569:99:.:.:832,0,21133:.	5	2	3	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6634.15	40	chr19	54760643	.	A	G	6634.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.84;DP=2035;ExcessHet=2.8389;FS=3.768;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=52.78;MQRankSum=-8.43;QD=3.78;ReadPosRankSum=-0.638;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,38:304:99:0|1:54760643_A_G:755,0,10872:54760643	5	0	5	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	7734.15	40	chr19	54760651	.	G	C	7734.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.862;DP=2076;ExcessHet=2.8389;FS=1.571;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.18;MQRankSum=-8.828;QD=4.28;ReadPosRankSum=0.57;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:274,40:314:99:0|1:54760643_A_G:814,0,11085:54760643	5	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9106.15	40	chr19	54760665	.	T	C	9106.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.066;DP=2055;ExcessHet=2.8389;FS=1.509;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.84;MQRankSum=-9.565;QD=5.11;ReadPosRankSum=1.84;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,40:295:99:0|1:54760665_T_C:912,0,10376:54760665	5	0	5	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9167.15	40	chr19	54760676	.	T	A	9167.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.168;DP=2031;ExcessHet=2.8389;FS=1.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.64;MQRankSum=-10.59;QD=5.2;ReadPosRankSum=3.64;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,40:303:99:0|1:54760665_T_C:888,0,10923:54760665	5	0	5	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9455.15	40	chr19	54760692	.	A	G	9455.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.915;DP=1868;ExcessHet=2.8389;FS=2.358;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.24;MQRankSum=-11.98;QD=5.68;ReadPosRankSum=4.04;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,40:285:99:0|1:54760665_T_C:942,0,10106:54760665	5	0	5	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9560.15	40	chr19	54760695	.	T	C	9560.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.898;DP=1846;ExcessHet=2.8389;FS=3.299;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.33;MQRankSum=-12.2;QD=5.86;ReadPosRankSum=3.72;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,40:281:99:0|1:54760665_T_C:954,0,9918:54760665	5	0	5	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	4973.14	37	chr19	54773464	.	G	C	4973.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.28;DP=3684;ExcessHet=0.2348;FS=9.291;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.36;MQRankSum=-16.31;QD=3.58;ReadPosRankSum=-0.647;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:571,71:642:99:0|1:54773456_T_C:1263,0,23232:54773456	8	0	2	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	8236.14	37	chr19	54773510	.	C	G	8236.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.459;DP=4037;ExcessHet=0.2348;FS=6.633;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.16;MQRankSum=-21.98;QD=5.07;ReadPosRankSum=2.62;SOR=1.172	GT:AD:DP:GQ:PL	0/1:613,112:725:99:2479,0,16969	8	0	2	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	8952.15	34	chr19	54805033	.	C	T	8952.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.399;DP=1643;ExcessHet=2.8389;FS=9.437;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.68;MQRankSum=-11.65;QD=6.18;ReadPosRankSum=0.528;SOR=1.101	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,21:285:87:0|1:54805033_C_T:87,0,10926:54805033	5	0	5	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7881.15	34	chr19	54805068	.	A	G	7881.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.173;DP=1562;ExcessHet=2.8389;FS=6.858;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.36;MQRankSum=-9.918;QD=5.83;ReadPosRankSum=0.563;SOR=0.761	GT:AD:DP:GQ:PL	0/1:233,29:262:99:479,0,6538	5	0	5	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	9915.15	99	chr19	54805957	.	A	T	9915.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.97;DP=1771;ExcessHet=2.8389;FS=3.192;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-16.36;QD=6.82;ReadPosRankSum=0.635;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,19:269:45:0|1:54805957_A_T:45,0,10440:54805957	5	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	10422.2	99	chr19	54805960	.	A	G	10422.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.89;DP=1798;ExcessHet=2.8389;FS=2.226;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.88;MQRankSum=-16.33;QD=7.05;ReadPosRankSum=0.668;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,19:268:48:0|1:54805957_A_T:48,0,10398:54805957	5	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14776.2	99	chr19	54805974	.	A	T	14776.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.69;DP=2009;ExcessHet=2.8389;FS=0.612;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-15.55;QD=8.75;ReadPosRankSum=0.322;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,22:278:99:0|1:54805957_A_T:153,0,10672:54805957	5	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.25	17370.2	99	chr19	54805981	.	G	A	17370.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.4;DP=2150;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.11;MQRankSum=-15.01;QD=9.52;ReadPosRankSum=-0.322;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,28:299:99:0|1:54805957_A_T:337,0,11196:54805957	5	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	22716.2	99	chr19	54806034	.	C	A	22716.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.229;DP=2912;ExcessHet=2.8389;FS=3.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.45;MQRankSum=-17.44;QD=9.52;ReadPosRankSum=4.68;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,45:383:99:0|1:54806034_C_A:860,0,14038:54806034	5	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22899.2	99	chr19	54806035	.	A	G	22899.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.07;DP=2921;ExcessHet=2.8389;FS=4.623;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.42;MQRankSum=-17.54;QD=9.54;ReadPosRankSum=5.03;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,45:385:99:0|1:54806034_C_A:854,0,14122:54806034	5	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22299.2	99	chr19	54806051	.	C	G	22299.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.563;DP=2945;ExcessHet=2.8389;FS=4.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=-18.03;QD=9.15;ReadPosRankSum=5.19;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,42:384:99:0|1:54806034_C_A:734,0,14234:54806034	5	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20457.1	38	chr19	54806072	.	GGA	G	20457.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.688;DP=2835;ExcessHet=2.8389;FS=5.882;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.84;MQRankSum=-17.65;QD=8.45;ReadPosRankSum=2.6;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,41:389:99:0|1:54806034_C_A:674,0,14489:54806034	5	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20353.1	38	chr19	54806075	.	A	AGG	20353.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.636;DP=2810;ExcessHet=2.8389;FS=5.92;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.83;MQRankSum=-17.42;QD=8.49;ReadPosRankSum=2.06;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,42:390:99:0|1:54806034_C_A:716,0,14486:54806034	5	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	19703.2	38	chr19	54806086	.	T	C	19703.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.793;DP=2800;ExcessHet=2.8389;FS=7.273;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.94;MQRankSum=-17.24;QD=8.27;ReadPosRankSum=-0.791;SOR=1.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,39:391:99:0|1:54806034_C_A:578,0,14663:54806034	5	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	17023.2	38	chr19	54806109	.	A	G	17023.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.044;DP=2734;ExcessHet=2.8389;FS=10.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.35;MQRankSum=-16.97;QD=7.33;ReadPosRankSum=-4.427;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,36:370:99:0|1:54806034_C_A:506,0,13916:54806034	5	0	5	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13059.2	37	chr19	54808838	.	C	T	13059.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.81;DP=2070;ExcessHet=2.8389;FS=3.037;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.16;MQRankSum=-17.43;QD=7.13;ReadPosRankSum=0.745;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,39:338:99:0|1:54808838_C_T:738,0,12417:54808838	5	0	5	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15064.1	37	chr19	54808850	.	TGG	T	15064.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.12;DP=2228;ExcessHet=2.8389;FS=2.1;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.39;MQRankSum=-16.24;QD=7.59;ReadPosRankSum=-0.095;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,47:375:99:0|1:54808838_C_T:986,0,13540:54808838	5	0	5	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15589.1	37	chr19	54808853	.	C	CAT	15589.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.82;DP=2244;ExcessHet=2.8389;FS=1.315;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.46;MQRankSum=-16.1;QD=7.83;ReadPosRankSum=-0.41;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,48:372:99:0|1:54808838_C_T:1040,0,13369:54808838	5	0	5	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.25	17966.2	37	chr19	54808875	.	T	C	17966.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=2329;ExcessHet=2.8389;FS=1.259;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.6;MQRankSum=-15.46;QD=8.7;ReadPosRankSum=-2.176;SOR=0.677	GT:AD:DP:GQ:PL	0/1:317,56:373:99:1401,0,8719	5	0	5	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10350.0	35	chr19	54847203	.	T	*	10350.0	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=3363;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=59.44;MQRankSum=-4.651;QD=3.7;ReadPosRankSum=-0.14;SOR=0.77	GT:AD:DP:GQ:PL	0/1:211,79:373:99:2437,0,9979	9	0	1	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13924.2	34	chr19	54855625	.	A	T	13924.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.782;DP=1986;ExcessHet=2.8389;FS=8.748;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.55;MQRankSum=-15.08;QD=7.77;ReadPosRankSum=1.52;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,41:335:99:0|1:54855608_TCTC_T:837,0,12211:54855608	5	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13459.2	34	chr19	54855628	.	A	G	13459.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.78;DP=1991;ExcessHet=2.8389;FS=8.887;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.62;MQRankSum=-15.1;QD=7.49;ReadPosRankSum=1.58;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,39:339:99:0|1:54855608_TCTC_T:735,0,12401:54855608	5	0	5	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15828.2	34	chr19	54865810	.	T	C	15828.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.521;DP=1456;ExcessHet=2.8389;FS=1.162;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-9.966;QD=12.94;ReadPosRankSum=1.02;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,42:200:99:0|1:54865770_G_A:1288,0,6508:54865770	5	0	5	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15804.2	34	chr19	54865825	.	G	A	15804.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.712;DP=1509;ExcessHet=2.8389;FS=0.548;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.56;MQRankSum=-10.27;QD=12.39;ReadPosRankSum=1.42;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,44:209:99:0|1:54865770_G_A:1351,0,6796:54865770	5	0	5	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15765.2	34	chr19	54865847	.	T	C	15765.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.92;DP=1527;ExcessHet=2.8389;FS=1.17;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-10.24;QD=12.22;ReadPosRankSum=-0.054;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,42:208:99:0|1:54865770_G_A:1264,0,6844:54865770	5	0	5	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15501.2	34	chr19	54865852	.	T	A	15501.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.003;DP=1520;ExcessHet=2.8389;FS=1.853;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.54;MQRankSum=-10.09;QD=12.04;ReadPosRankSum=-0.456;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,42:209:99:0|1:54865770_G_A:1261,0,6886:54865770	5	0	5	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14715.2	34	chr19	54865864	.	C	A	14715.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.33;DP=1488;ExcessHet=2.8389;FS=1.176;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.7;MQRankSum=-9.413;QD=11.76;ReadPosRankSum=-0.902;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,40:201:99:0|1:54865770_G_A:1195,0,6640:54865770	5	0	5	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14632.2	34	chr19	54865870	.	C	T	14632.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.51;DP=1465;ExcessHet=2.8389;FS=0.553;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.69;MQRankSum=-9.557;QD=11.88;ReadPosRankSum=-1.277;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,42:201:99:0|1:54865770_G_A:1285,0,6550:54865770	5	0	5	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13373.2	34	chr19	54865885	.	T	C	13373.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.07;DP=1392;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.61;MQRankSum=-9.308;QD=11.56;ReadPosRankSum=-1.506;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,38:193:99:0|1:54865770_G_A:1129,0,6394:54865770	5	0	5	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13039.2	34	chr19	54865888	.	C	T	13039.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.85;DP=1373;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.58;MQRankSum=-9.099;QD=11.43;ReadPosRankSum=-1.48;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,36:187:99:0|1:54865770_G_A:1037,0,6232:54865770	5	0	5	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	12453.2	34	chr19	54865893	.	G	C	12453.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.03;DP=1329;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.55;MQRankSum=-8.765;QD=11.42;ReadPosRankSum=-1.821;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,35:176:99:0|1:54865770_G_A:1025,0,5815:54865770	5	0	5	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|0:0,38:75:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3103,1530,1415:55358511	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|0:0,38:78:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3202,1636,1543:55358511	1	8	1	0
chr19	56191902	56191902	G	A	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.C536T:p.A179V,ZSCAN5B:NM_001385638:exon3:c.C536T:p.A179V	.	427	1081	13	1	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.000443102438536	0.0012	0.000399361	0.0010	0	0.0003	0	0	0.0012	0.0011	0.0018	0.0008732	135	154602	rs199497935	0.0011	0.0011	0.0009	0.0012	0.0090	0.0010	0.0010	0.0071	0.0064	2.987e-05	0.0005	0.0010	0	0.0001	0.0090	0.0010	0.0014	0.0023	0.0008	0.0008	0.0009	0.0006	0.0019	0.0007	0.0006	0.0010	0.0008	0.0003	0	0.0008	0.0017	0	0.0002	0	0.0010	0.0024	0.0019	0.196	0.20683	T	0.269	0.22426	T	0.997	0.70673	D	0.985	0.76457	D	.	.	.	.	1	0.08975	N	1.68	0.43186	L	3.4	0.05642	T	-0.74	0.20791	N	0.03	0.00717	-1.0366	0.18357	T	0.031	0.13461	T	9	0.006159246	0.00139	T	4.43E-4	0.00099	T	0.032	0.07718	.	.	0.143124449307	0.13826	0.07072266230011033	0.07009	0.0983498862426	0.11110	0.299490571022	0.10324	T	0.004394	0.03798	T	-0.727601	0.00025	T	-0.816971	0.01514	T	0.041492736840577	0.03961	T	0.720728	0.33361	T	0.029086264	0.02347	0.04209941	0.04935	0.029086264	0.02346	0.04209941	0.04935	-3.655	0.18656	T	.	.	0.181	0.39442	B	.;.	.;.	-0.032296	0.04066	0.945	0.61490145670609297	0.06722	0.00126	0.00785	N	AEFBI	0.023150	0.01251	N	-0.592595103882097	0.19168	1.001098	-0.92303017783393	0.11551	0.5891608	4.4305189627458E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-2.78	0.05512	-0.944000	0.04022	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4016:0.2459:0.3525:0.0	2.803	0.05087	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.010101	0.002717	0.005848	0.000000	0.025862	0.018293	0.007576	0.05	1661.43	33	chr19	56191902	.	G	A	1661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.536;DP=490;ExcessHet=0;FS=2.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.685;SOR=0.861	GT:AD:DP:GQ:PL	0/1:89,69:158:99:1673,0,2431	9	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V	.	428	1064	29	1	0	31	0.0143585	.	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034778	0.020202	0.046196	0.064706	0.050000	0.025862	0.015244	0.003788	0.05	1308.43	37	chr19	57474334	.	C	A	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.267;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.582;SOR=0.66	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1320,0,1402	9	0	1	0
chr19	57808794	57808794	G	A	exonic	ZNF552	.	nonsynonymous SNV	ZNF552:NM_024762:exon3:c.C470T:p.A157V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00090596807728	.	0.000399361	8.236e-05	0.0002	8.637e-05	0	0	8.99e-05	0	6.056e-05	0.0001537	4	26028	rs576029108	8.421e-05	0.0002	7.084e-05	9.771e-05	0.0019	7.209e-05	6.755e-05	0.0011	0.0008	0.0004	4.473e-05	0	0.0001	3.75e-05	0.0019	5.58e-05	0.0002	0.0001	0.0003	0.0020	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0003	0	0	9.61e-05	0.0034	0.0002	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.17	0.04298	N	3.71	0.04046	T	2.84	0.00165	N	0.044	0.01658	-0.9175	0.45891	T	0.005	0.01688	T	9	0.017190516	0.00366	T	9.06E-4	0.00844	T	0.018	0.03083	.	.	0.248417906384	0.24464	0.031522407414787665	0.03101	0.557334318704	0.52354	0.230389162898	0.01997	T	0.008331	0.07654	T	-0.405658	0.02125	T	-0.820476	0.01443	T	0.00920337763139408	0.00116	T	0.186781	0.01946	T	0.019427126	0.00472	0.031151643	0.01664	0.019427126	0.00472	0.031151643	0.01664	0.26	0.00269	T	.	.	0.110	0.21239	B	.	.	-0.155911	0.03322	0.580	0.18782001308032792	0.00605	0.00096	0.00628	N	AEFBI	0.009771	0.00061	N	-1.78118286330107	0.00593	0.02554289	-1.7870117084999	0.00802	0.03578075	0.0912039099692399	0.16128	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.96	-0.803	0.10336	0.125000	0.15577	.	.	-0.227000	0.07798	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.6156:0.0:0.163:0.2214	2.784	0.05039	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	4362.43	34	chr19	57808794	.	G	A	4362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.81;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.29;MQRankSum=-4.701;QD=9.91;ReadPosRankSum=-1.376;SOR=0.657	GT:AD:DP:GQ:PL	0/1:251,189:440:99:4374,0,6126	9	0	1	0
chr19	58212452	58212452	A	G	exonic	ZNF274	.	nonsynonymous SNV	ZNF274:NM_016324:exon5:c.A956G:p.N319S,ZNF274:NM_016325:exon7:c.A1175G:p.N392S,ZNF274:NM_001278734:exon8:c.A1145G:p.N382S,ZNF274:NM_133502:exon8:c.A1271G:p.N424S	.	426	1078	16	0	2	18	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00918949002761	0.0010	0.000998403	0.0010	0.0002	0.0008	0	0	0.0012	0.0011	0.0016	0.0009444	146	154602	rs190213013	0.0014	0.0014	0.0013	0.0014	0.0068	0.0013	0.0013	0.0051	0.0045	0.0003	0.0009	0	0	1.876e-05	0.0068	0.0015	0.0018	0.0016	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0220	0.0009	0	0	0	0	0.0015	0.0009	0.0015	.	.	.	1.0	0.01155	T	0.473	0.36591	P	0.088	0.29688	B	0.274199	0.03791	N	1.646620	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.011	0.00445	-1.0017	0.29430	T	0.008	0.02760	T	8	0.004541546	0.00094	T	0.009189	0.24154	T	0.024	0.04979	.	.	0.207176502487	0.20327	0.042041687510274914	0.04149	0.235332845833	0.26065	0.206556916237	0.00673	T	0.026574	0.19638	T	-0.675816	0.00051	T	-0.75677	0.03230	T	0.0034575339530296	0.00036	T	0.463454	0.13490	T	0.033697676	0.03639	0.04140205	0.04698	0.033697676	0.03638	0.04140205	0.04697	-5.31	0.43228	T	.	.	0.103	0.35288	B	.;.;.;.;.	.;.;.;.;.	-0.826013	0.01057	0.046	0.22980009723723005	0.00950	0.00068	0.00484	N	AEFDBHCI	0.031618	0.03417	N	-1.72447613793533	0.00758	0.03275647	-1.87319309313305	0.00552	0.02450146	0.176455474352768	0.17811	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	-0.47	0.11525	-0.130000	0.10477	-0.833000	0.07248	-0.462000	0.05112	0.000000	0.06391	0.009000	0.19889	0.031000	0.13245	.	.	.	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	0.003021	0.005051	0.004076	0.000000	0.000000	0.017241	0.003049	0.000000	0.1	3422.14	39	chr19	58212452	.	A	G	3422.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.44;DP=633;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.899;SOR=0.678	GT:AD:DP:GQ:PL	0/1:102,84:186:99:2042,0,2755	8	0	2	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001445	0.000000	0.000000	0.014286	0.100000	0.000000	0.000000	0.000000	0.05	338.43	45	chr20	2102135	.	G	C	338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.408;DP=376;ExcessHet=0;FS=3.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.31;SOR=1.473	GT:AD:DP:GQ:PL	0/1:22,15:37:99:350,0,630	9	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:57,30:96:99:122,0,1048	1	0	7	2
chr20	6084039	6084039	C	T	splicing	FERMT1	NM_017671:exon13:c.1718+1G>A	.	.	Kindler syndrome, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.954	YES	3860516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.697050	0.93091	33	0.99548748988546631	0.71023	0.99001	0.89785	D	AEFDBI	.	.	.	1.09719036326994	0.98081	17.38615	0.922481559643636	0.96479	14.74772	0.99999999987483	0.74766	0.106106	0.02776	0	0.059962	0.00310	0	0.125526	0.03468	0	0.057018	0.00518	0	0.978593	0.82806	4.8	4.8	0.61157	7.905000	0.86479	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	18.243	0.89912	808	0.43318	.;.	.	.	.	.	.	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	2629.43	37	chr20	6084039	.	C	T	2629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=995;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.72;SOR=0.707	GT:AD:DP:GQ:PL	0/1:140,118:258:99:2641,0,3208	9	0	1	0
chr20	9516096	9516096	G	A	exonic	LAMP5	.	nonsynonymous SNV	LAMP5:NM_012261:exon3:c.G334A:p.D112N	.	421	1078	22	1	0	24	0.0110092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.010784639031	.	0.00119808	0.0009	0	0.0002	0	0	0.0001	0.0026	0.0092	0.0008279	128	154602	rs200509210	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	0	0.0002	0.0003	5.085e-05	0	0.0037	0.0001	0.0008	0.0065	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	6.531e-05	0.0003	0	0	0.0034	0.0001	0.0005	0.0052	0.202	0.20230	T	0.429	0.13752	T	0.001	0.07471	B	0.007	0.12992	B	0.000036	0.55875	N	0.189333	0.99512	0.81001	D	1.175	0.29870	L	1.48	0.31731	T	-0.84	0.22944	N	0.144	0.14480	-1.0935	0.04974	T	0.043	0.18451	T	9	0.0056346953	0.00125	T	0.010785	0.27705	T	0.072	0.21020	.	.	0.0986583533028	0.09354	0.38427635128069104	0.38342	0.0586717605693	0.06507	0.443458497524	0.31050	T	0.002241	0.01642	T	-0.640608	0.00083	T	-0.68896	0.06449	T	0.0260834277092017	0.01417	T	0.70423	0.31438	T	0.1910646	0.40718	0.15757488	0.36839	0.1910646	0.40718	0.15757488	0.36838	-4.421	0.29840	T	.	.	0.088	0.11558	B	.	.	2.559794	0.33151	19.25	0.99532716215292638	0.69963	0.88439	0.48367	D	AEFBCI	0.427236	0.49126	N	-0.235245939257997	0.31697	1.779919	-0.0266056507923178	0.38518	2.270409	0.999998762075356	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	6.01	4.08	0.46880	3.572000	0.53593	5.883000	0.50667	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1339:0.0:0.8661:0.0	12.568	0.55670	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.007576	0.05	713.43	33	chr20	9516096	.	G	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.25;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-3.004;SOR=0.789	GT:AD:DP:GQ:PL	0/1:47,30:77:99:725,0,1131	9	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V,ANKEF1:NM_001303472:exon7:c.C569T:p.A190V,ANKEF1:NM_022096:exon7:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	317.55	81	chr20	10049705	.	C	T	317.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.332;DP=805;ExcessHet=1.5895;FS=229.965;InbreedingCoeff=-0.2493;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.222;SOR=9.688	GT:AD:DP:GQ:PL	0/1:50,31:81:99:136,0,1051	6	0	4	0
chr20	32456182	32456182	G	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon3:c.C323T:p.S108L,NOL4L:NM_080616:exon3:c.C323T:p.S108L,NOL4L:NM_001256798:exon6:c.C1055T:p.S352L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0068475974796	.	0.000798722	0.0005	0	8.708e-05	0	0	4.641e-05	0	0.0041	0.0004463	69	154602	rs541553258	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0032	0	0	0	5.218e-05	1.893e-05	0.0002	7.242e-06	0.0002	0.0036	0.0001	0.0001	7.705e-05	0.0001	0.0027	7.083e-05	5.74e-05	0.0016	0.0013	2.404e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0027	0.491	0.07969	T	0.346	0.17696	T	0.296	0.32457	B	0.024	0.20255	B	0.368460	0.13564	N	0.696787	1	0.08975	N	.	.	.	.	.	.	-0.38	0.13418	N	0.536	0.56403	-1.0615	0.11385	T	0.083	0.32470	T	9	0.0069964826	0.00159	T	0.006848	0.18121	T	0.062	0.17934	.	.	0.043077524339	0.03247	0.1188255053769968	0.11809	0.238803893762	0.26431	.	.	.	0.025161	0.18867	T	-0.527439	0.00398	T	-0.533457	0.18942	T	0.0635478815302345	0.07715	T	0.90041	0.65400	D	0.039680246	0.05524	0.04895584	0.07378	0.039680246	0.05524	0.04895584	0.07378	-3.546	0.17082	T	.	.	0.075	0.16886	B	.;.;.	.;.;.	2.964535	0.39493	21.0	0.97180648979261375	0.32718	0.97248	0.73568	D	AEFDGBI	0.529619	0.55066	D	-0.284787191324329	0.29735	1.651634	-0.156897260039894	0.33144	1.892876	0.999999998185333	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.04	4.09	0.47038	6.548000	0.73797	11.772000	0.95887	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.122000	0.19250	0.0839:0.0:0.9161:0.0	11.949	0.52232	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2050.43	35	chr20	32456182	.	G	A	2050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=472;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.95;SOR=0.67	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2062,0,1615	9	0	1	0
chr20	32839770	32839770	G	A	exonic	MAPRE1	.	nonsynonymous SNV	MAPRE1:NM_012325:exon5:c.G511A:p.A171T	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00299521	0.0019	0.0003	0.0007	0	0	0.0002	0.0055	0.0121	0.0016494	255	154602	rs374092179	0.0008	0.0008	0.0005	0.0012	0.0121	0.0008	0.0008	0.0115	0.0112	2.987e-05	6.708e-05	0	0	0	0.0050	7.194e-05	0.0011	0.0121	0.0005	0.0005	0.0002	0.0007	0.0108	0.0004	0.0003	0.0084	0.0076	9.623e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0.0108	0.244	0.17468	T	0.34	0.18018	T	0.004	0.12183	B	0.006	0.12133	B	0.022673	0.26589	N	0.399541	0.996799	0.43422	D	0.965	0.23975	L	0.75	0.50192	T	0.48	0.03041	N	0.216	0.24135	-1.0915	0.05286	T	0.076	0.30429	T	10	0.0037770271	0.00070	T	.	.	.	0.031	0.07369	.	.	0.417183330711	0.41332	0.4672995081289453	0.46648	0.367858101756	0.38347	0.461358457804	0.33497	T	0.046655	0.27488	T	-0.489096	0.00657	T	-0.463652	0.26202	T	0.0044250417205482	0.00047	T	0.69903	0.30897	T	0.099409126	0.23461	0.11817439	0.28527	0.099409126	0.23461	0.11817439	0.28526	-4.527	0.31240	T	.	.	0.066	0.02200	B	.	.	1.979463	0.25148	16.66	0.97027241803136388	0.32051	0.84481	0.43563	D	AEFDBCI	0.340668	0.43741	N	-0.718343764915602	0.15507	0.7820598	-0.573407941403257	0.20187	1.086516	0.638446806586041	0.22031	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	3.08	0.34576	1.529000	0.35602	5.632000	0.49119	-0.199000	0.08999	0.993000	0.37899	1.000000	0.68203	0.120000	0.19168	0.0:0.0:0.6913:0.3087	13.315	0.59840	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.026515	0.05	1432.43	35	chr20	32839770	.	G	A	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.681;DP=447;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.397;SOR=0.582	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1444,0,1171	9	0	1	0
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P,BPIFA3:NM_178466:exon1:c.G94C:p.A32P	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1658.43	34	chr20	33217630	.	G	C	1658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.362;DP=430;ExcessHet=0;FS=3.299;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.452;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1670,0,1178	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	0/1:97,50:159:99:174,0,1407	2	0	8	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S	.	416	1055	48	3	0	54	0.0249538	.	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.014946	0.011696	0.000000	0.060345	0.018293	0.007576	0.05	1988.43	34	chr20	35000390	.	G	A	1988.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=480;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.745;SOR=0.51	GT:AD:DP:GQ:PL	0/1:77,77:154:99:2000,0,1698	9	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	181.73	133	chr20	37007453	.	C	G	181.73	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.577;DP=634;ExcessHet=0.2348;FS=158.382;InbreedingCoeff=-0.1043;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=2.37;SOR=7.743	GT:AD:DP:GQ:PL	0/1:90,18:108:9:9,0,2018	8	0	2	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	219.23	35	chr20	38497424	.	A	G	219.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.636;DP=796;ExcessHet=0.2348;FS=147.349;InbreedingCoeff=-0.1154;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.324;SOR=10.087	GT:AD:DP:GQ:PL	0/1:60,28:88:99:110,0,1038	8	0	2	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	290.81	57	chr20	41100210	.	T	C	290.81	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.473;DP=484;ExcessHet=2.8389;FS=197.43;InbreedingCoeff=-0.3399;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.027;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,7:28:27:.:.:27,0,357:.	5	0	5	0
chr20	44719949	44719949	G	A	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon2:c.G113A:p.R38Q,CCN5:NM_003881:exon2:c.G113A:p.R38Q,CCN5:NM_001323370:exon3:c.G113A:p.R38Q	.	427	1094	1	0	0	1	0.00045683	.	.	.	3292564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0171681928142	0.0003	.	0.0001	0.0003	0	0	0	0.0001	0	6.3e-05	8.41e-05	13	154602	rs142450134	5.063e-05	5.062e-05	3.812e-05	6.327e-05	0.0003	4.126e-05	3.779e-05	0.0001	8.677e-05	0.0002	0	0	0	0	0.0003	5.037e-05	8.281e-05	3.479e-05	0.0001	0.0001	0.0002	0.0001	0.0003	8.665e-05	7.257e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0001	0.0010	0	0.623	0.31682	T	0.198	0.27767	T	0.259	0.31472	B	0.027	0.21085	B	0.448622	0.12535	N	0.748495	0.98363	0.24868	N	0.915	0.23335	L	0.38	0.57575	T	-0.9	0.47008	N	0.177	0.28146	-1.0592	0.11956	T	0.075	0.30179	T	10	0.1224184	0.23222	T	0.017168	0.38759	T	0.149	0.39377	.	.	0.0884992946249	0.08302	0.28276754992337383	0.28189	0.263708629876	0.28926	0.256210744381	0.04449	T	0.059	0.30914	T	-0.306447	0.08065	T	-0.398532	0.33555	T	0.0194376364018392	0.00647	T	0.751225	0.43132	T	0.032245107	0.03213	0.032663926	0.02036	0.032245107	0.03212	0.032663926	0.02035	-4.994	0.46431	T	.	.	0.075	0.27939	B	.;.;.	.;.;.	2.027580	0.25767	16.88	0.92168037614814891	0.21531	0.58271	0.30597	D	AEFDGBI	0.303216	0.41125	N	-0.83490701020308	0.12424	0.605542	-0.780328621990213	0.14977	0.7854124	0.999991508832863	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.41	1.25	0.20475	1.357000	0.33694	-0.065000	0.12373	-0.799000	0.03183	0.082000	0.22389	0.000000	0.08366	0.010000	0.09038	0.2117:0.1252:0.6631:0.0	6.985	0.23905	448	0.79501	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;.;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1208.43	34	chr20	44719949	.	G	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=412;ExcessHet=0;FS=3.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.157;SOR=0.712	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1220,0,1334	9	0	1	0
chr20	45221915	45221915	A	C	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.A283C:p.K95Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00101449227979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.035	0.52389	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.28	0.64929	M	2.64	0.12780	T	-1.8	0.42384	N	0.14	0.13911	-1.0587	0.12083	T	0.068	0.27743	T	9	0.35977793	0.52637	T	0.001014	0.01096	T	0.093	0.26882	0.726	0.86024	0.227934060464	0.22382	0.04954772755484569	0.04897	0.102706332859	0.11620	0.326726287603	0.14439	T	0.00309	0.02494	T	-0.306412	0.08069	T	-0.677916	0.07112	T	0.189342826604843	0.19806	T	0.774523	0.40643	T	0.13739602	0.31815	0.056270942	0.10024	0.13739602	0.31815	0.056270942	0.10024	-3.436	0.15545	T	.	.	0.242	0.47622	B	.	.	1.343472	0.17504	13.20	0.95801988683030492	0.27860	0.01541	0.05062	N	AEFGBI	0.025653	0.01794	N	-0.427626988199434	0.24505	1.323605	-0.778560441311908	0.15021	0.7878849	5.64529560833593E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.07	-0.876	0.10086	-0.346000	0.07809	-0.036000	0.12731	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4735:0.0:0.5265:0.0	3.569	0.07462	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1917.43	34	chr20	45221915	.	A	C	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=766;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.451;SOR=0.616	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1929,0,1894	9	0	1	0
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S,CHRNA4:NM_001256573:exon5:c.G832A:p.G278S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1408.43	114	chr20	63350051	.	C	T	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.352;SOR=0.647	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1420,0,1215	9	0	1	0
chr20	63547160	63547160	C	T	exonic	SRMS	.	nonsynonymous SNV	SRMS:NM_080823:exon1:c.G304A:p.V102M	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.08619345236	0.0008	.	0.0012	0.0004	0.0017	0.0001	0.0003	0.0009	0.0036	0.0035	0.0010155	157	154602	rs138464879	0.0009	0.0009	0.0008	0.0010	0.0042	0.0009	0.0008	0.0031	0.0030	0.0003	0.0010	0	2.526e-05	0.0004	0.0042	0.0008	0.0009	0.0034	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0011	0.0009	0.0003	0	0.0005	0	0	0.0005	0.0034	0.0008	0.0005	0.0021	0.001	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.857	0.61067	P	0.000176	0.48594	D	0.000000	0.878905	0.28083	N	4	0.96753	H	0.62	0.53302	T	-2.18	0.49187	N	0.469	0.50508	-0.2543	0.76243	T	0.375	0.73302	T	10	0.051735282	0.05101	T	0.086193	0.74686	D	0.247	0.55478	.	.	0.556733452047	0.55333	0.5273764860082296	0.52661	0.634652527307	0.57311	0.46648401022	0.34199	T	0.269718	0.64193	T	-0.355904	0.04367	T	-0.287373	0.46044	T	0.117160839907432	0.14149	T	0.69903	0.30897	T	0.6387308	0.74763	0.50371265	0.71312	0.6387308	0.74764	0.50371265	0.71313	-9.791	0.72650	D	.	.	0.506	0.64835	A	.	.	3.441952	0.47889	22.5	0.99798441916423419	0.88372	0.60453	0.31200	D	AEFDBI	0.077111	0.15530	N	0.347333977292598	0.58599	4.033104	0.124060493655545	0.45782	2.835346	0.0169534973870808	0.12894	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	1.023000	0.29668	1.456000	0.26643	0.549000	0.26987	0.604000	0.27780	0.839000	0.27283	0.021000	0.11733	0.0:0.8337:0.1663:0.0	12.701	0.56403	.	.	SH3 domain|SH3 domain|SH3 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	0.005040	0.000000	0.006793	0.000000	0.000000	0.000000	0.012270	0.000000	0.05	1434.43	34	chr20	63547160	.	C	T	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=456;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.484;SOR=0.613	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1446,0,1932	9	0	1	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L,RTEL1:NM_001283009:exon30:c.C2975T:p.P992L,RTEL1:NM_016434:exon30:c.C2975T:p.P992L,RTEL1:NM_032957:exon30:c.C3047T:p.P1016L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	435	1059	27	1	0	29	0.0135072	.	.	.	430403	not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	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	0.010070	0.015152	0.016304	0.008772	0.050000	0.000000	0.003049	0.007634	0.05	1264.43	38	chr20	63693266	.	C	T	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=439;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.954;SOR=0.882	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1276,0,1056	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	0/1:149,121:270:99:3128,0,3669	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	0/1:147,81:228:99:1813,0,4058	1	4	5	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	0/1:78,60:138:99:1349,0,1869	1	5	4	0
chr21	30746967	30746967	T	G	exonic	KRTAP21-2	.	nonsynonymous SNV	KRTAP21-2:NM_181617:exon1:c.A236C:p.Y79S	.	427	1088	7	0	0	7	0.0032066	.	.	.	2337610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0125015625829	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0013	0.000194	30	154602	rs199587941	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0001	0.0023	0.0019	5.975e-05	4.472e-05	0	0	0	0.0035	9.445e-05	0.0002	0.0013	7.883e-05	7.875e-05	3.856e-05	0.0001	0.0012	4.496e-05	3.511e-05	0.0005	0.0004	0	0	0	0	0	0	0	8.82e-05	0	0.0012	0.0	0.91255	D	0.199	0.27679	T	0.232	0.30664	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-7.29	0.94457	D	0.238	0.26837	-1.0061	0.28126	T	0.065	0.27017	T	7	0.017139673	0.00364	T	0.012502	0.31128	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.13285876787855533	0.13209	0.351425158729	0.36983	.	.	.	0.028245	0.20504	T	-0.40337	0.02200	T	-0.392723	0.34233	T	0.0935192221244569	0.11630	T	0.330567	0.06924	T	0.5106307	0.67716	0.55563015	0.74298	0.5106307	0.67717	0.55563015	0.74299	-6.012	0.46381	T	.	.	0.163	0.36073	B	.	.	1.619543	0.20688	14.86	0.80495402631002511	0.13230	0.03952	0.09354	N	AEFI	0.048546	0.08294	N	-0.743499015063855	0.14810	0.740958	-0.830323738216004	0.13761	0.7156483	1.73413948463077E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.5	-0.635	0.10934	-0.397000	0.07329	-3.238000	0.02945	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.336:0.2041:0.4599	3.764	0.08136	528	0.73785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.006098	0.000000	0.05	1184.43	34	chr21	30746967	.	T	G	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.795;DP=435;ExcessHet=0;FS=3.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.409;SOR=0.61	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1196,0,1982	9	0	1	0
chr21	34449517	34449604	CGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	-	exonic	KCNE1	.	frameshift deletion	KCNE1:NM_001127670:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001270404:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001127668:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001127669:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270402:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270403:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270405:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_000219:exon4:c.31_118del:p.P11Afs*24	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	200	1278	43	1	0	45	0.017301	.	.	.	1192622	Long_QT_syndrome_5|not_provided	MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.0059	0.0042	0.0048	0.0232	0.0044	0.0043	0.0215	0.0208	0.0079	0.0037	0.0084	0.0232	0.0086	0.0043	0.0035	0.0070	0.0035	0.0025	0.0089	0.0026	0.0023	0.0035	0.0022	0.0021	0.0028	0.0026	0.0035	0	0.0008	0.0023	0.0031	0.0013	0	0.0026	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32.33	34	chr21	34449516	.	CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	C	32.33	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.376;DP=411;ExcessHet=0.7463;FS=9.758;InbreedingCoeff=-0.2229;MLEAC=3;MLEAF=0.15;MQ=37.95;MQRankSum=3.73;QD=0.21;ReadPosRankSum=-3.041;SOR=0.246	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,46:60:15:0|1:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:15,0,507:34449516	7	0	3	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|0:0,33:35:16:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:681,86,16:34449516	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|1:99,22:121:99:0|1:41918930_C_G:179,0,3707:41918930	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|1:99,22:121:99:0|1:41918930_C_G:179,0,3707:41918930	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|1:99,22:121:99:0|1:41918930_C_G:180,0,3692:41918930	5	0	5	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K,C2CD2:NM_015500:exon4:c.G518A:p.R173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	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	.	.	.	.	.	.	.	.	0.05	367.16	39	chr21	41918935	.	C	T	367.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.384;DP=632;ExcessHet=0.2348;FS=138.574;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.04;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,22:121:99:0|1:41918930_C_G:180,0,3692:41918930	9	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	4153.92	51	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	4153.92	.	AC=5;AF=0.278;AN=18;BaseQRankSum=0.58;DP=769;ExcessHet=3.7549;FS=6.965;InbreedingCoeff=-0.3033;MLEAC=5;MLEAF=0.278;MQ=59.9;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.479;SOR=0.351	GT:AD:DP:GQ:PL	0/1:0,21:44:99:1655,884,1444	5	1	3	1
chr21	42565848	42565848	A	T	exonic	SLC37A1	.	nonsynonymous SNV	SLC37A1:NM_001320537:exon15:c.A1243T:p.S415C,SLC37A1:NM_018964:exon16:c.A1243T:p.S415C	.	415	1060	45	2	0	49	0.0225911	.	.	.	728926	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.412	.	0.0051	0.00738818	0.0063	0.0009	0.0054	0	0.0012	0.0074	0.0088	0.0112	0.0062095	960	154602	rs117821416	0.0063	0.0063	0.0062	0.0065	0.0482	0.0062	0.0062	0.0435	0.0417	0.0012	0.0053	0.0073	2.519e-05	0.0008	0.0482	0.0064	0.0079	0.0105	0.0048	0.0048	0.0048	0.0048	0.0097	0.0045	0.0044	0.0075	0.0067	0.0013	0.0439	0.0057	0.0075	0.0004	0.0005	0.0442	0.0064	0.0095	0.0097	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.089981	0.999998	0.58761	D	.	.	.	0.23	0.59717	T	-3.44	0.67477	D	0.777	0.77883	-0.4043	0.71892	T	0.264	0.63490	T	10	0.021000087	0.00494	T	.	.	.	0.412	0.72328	.	.	0.596622473119	0.59341	0.7066432131260653	0.70606	1.18097306513	0.80018	0.637778460979	0.58248	T	0.507714	0.82533	D	-0.152753	0.27883	T	0.0171998	0.71450	D	0.0186816729709919	0.00581	T	0.854615	0.54143	D	0.53632385	0.69190	0.38193932	0.63191	0.53632385	0.69191	0.38193932	0.63191	-9.883	0.73208	D	.	.	0.185	0.40065	B	.;.	.;.	4.452089	0.69213	25.3	0.99030630587834523	0.50786	0.97994	0.78718	D	AEFGBI	0.809050	0.73266	D	0.597923731511423	0.73044	5.902358	0.530957509711058	0.70082	5.453411	0.999999846841137	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	4.12	4.12	0.47504	7.375000	0.78897	8.930000	0.78409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	12.426	0.54881	988	0.01987	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033233	0.005051	0.038043	0.052632	0.050000	0.077586	0.030488	0.015152	0.05	2178.43	37	chr21	42565848	.	A	T	2178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.885;DP=537;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.12;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,92:169:99:1|0:42565845_G_A:2190,0,2957:42565845	9	0	1	0
chr21	43797658	43797658	A	G	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon7:c.A580G:p.I194V	.	436	1050	34	2	0	38	0.0177736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0067	0.00439297	0.0076	0.0086	0.0029	0	0.0035	0.0083	0.0089	0.0128	0.0070568	1091	154602	rs34224504	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0070	0.0039	0.0103	0	0.0037	0.0144	0.0065	0.0074	0.0115	0.0067	0.0068	0.0062	0.0073	0.0120	0.0064	0.0063	0.0095	0.0086	0.0081	0.0011	0.0063	0.0101	0	0.0029	0.0034	0.0066	0.0109	0.0120	.	.	.	0.052	0.47581	T	0.198	0.29589	B	0.068	0.27651	B	0.000014	0.62929	N	0.147144	0.998836	0.45528	D	1.65	0.42232	L	0.93	0.44065	T	-0.7	0.19933	N	0.108	0.09349	-1.0479	0.14988	T	0.082	0.32178	T	10	0.0061847866	0.00139	T	.	.	.	0.124	0.34239	.	.	0.228597637076	0.22478	0.1129430152115122	0.11222	0.396317032902	0.40747	0.324425399303	0.14091	T	0.007208	0.06625	T	-0.620224	0.00110	T	-0.653298	0.08724	T	0.00837291945576133	0.00101	T	0.738226	0.35599	T	0.40382156	0.60996	0.3074112	0.56763	0.40382156	0.60997	0.3074112	0.56762	-8.069	0.61540	D	.	.	0.075	0.05360	B	.	.	0.819982	0.11909	8.475	0.79996522551697846	0.12997	0.81082	0.40563	D	AEFDGBCI	0.103219	0.20685	N	-0.573273131429975	0.19761	1.036678	-0.63292922354271	0.18649	0.9971872	0.999574027058866	0.40495	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	1.02	0.19102	1.350000	0.33615	1.737000	0.28371	-0.065000	0.16512	0.992000	0.37556	0.461000	0.25002	0.088000	0.17685	0.6597:0.0:0.3403:0.0	6.405	0.20863	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.015152	0.019022	0.005848	0.000000	0.008621	0.018293	0.015152	0.05	750.43	35	chr21	43797658	.	A	G	750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.042;DP=863;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.91;ReadPosRankSum=-1.46;SOR=0.607	GT:AD:DP:GQ:PL	0/1:86,41:127:99:762,0,2307	9	0	1	0
chr21	44291142	44291142	C	G	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon8:c.C927G:p.I309M	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	958977	not_provided|Polyglandular_autoimmune_syndrome,_type_1	MedGen:C3661900|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.734	0.051600594119	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs74162062	0.0001	0.0001	0.0001	0.0001	0.0003	9.349e-05	8.831e-05	0.0002	0.0001	5.975e-05	0	0	0	0	0.0002	0.0001	9.94e-05	0.0003	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	7.899e-05	2.407e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.968	0.56581	D	0.726	0.55126	P	0.009445	0.30355	N	0.149595	0.999666	0.48141	D	1.555	0.39373	L	-2.21	0.86963	D	-2.09	0.47683	N	0.653	0.66358	0.472	0.90148	D	0.696	0.89521	D	10	0.6621865	0.70218	D	0.051601	0.64730	D	0.734	0.90721	.	.	0.935899856031	0.93523	0.6584371286038074	0.65780	0.527928288861	0.50385	0.696090936661	0.66580	T	0.49769	0.81945	T	-0.0635664	0.42348	T	-0.0245376	0.68730	D	0.378336071968079	0.28119	T	0.939106	0.77081	D	0.82902205	0.85834	0.672839	0.80798	0.82902205	0.85836	0.672839	0.80799	-10.954	0.79405	D	0.6659994009639238	0.74024	0.596	0.68731	P	.	.	3.948354	0.57820	23.9	0.99488915186248639	0.67347	0.83499	0.42612	D	AEFDBI	0.358850	0.44938	N	0.378446090113252	0.60256	4.212547	0.3332935450562	0.57506	3.916637	0.999994053241565	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	3.86	0.43689	0.478000	0.21922	1.637000	0.27771	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	11.703	0.50845	929	0.16858	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1747.43	42	chr21	44291142	.	C	G	1747.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.132;DP=470;ExcessHet=0;FS=3.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.807;SOR=0.455	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1759,0,1541	9	0	1	0
chr21	44330725	44330725	A	C	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271441:exon6:c.T737G:p.V246G	.	423	1095	2	0	2	4	0.000912409	.	.	.	1300581	not_provided|CFAP410-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.002457505785	.	.	0.0003	0	0	0	0	0.0002	0	0.0004	3.84e-05	1	26028	rs750020087	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	9.511e-05	0	0	2.799e-05	2.08e-05	0.0002	0.0005	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	0	0	0.0004	0.0010	0.0002	0.141	0.25560	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	0.41	0.03407	N	0.165	0.17416	-1.0169	0.24722	T	0.047	0.20275	T	6	0.041692138	0.02849	T	0.002458	0.04868	T	0.035	0.08770	.	.	0.0762999501168	0.06990	0.22794923434838618	0.22709	0.0853582528376	0.09647	.	.	.	.	.	.	-0.578476	0.00197	T	-0.734567	0.04123	T	0.00746472569067086	0.00086	T	0.0982902	0.00729	T	.	.	.	.	.	.	.	.	-6.145	0.47477	T	.	.	0.058	0.00681	B	.	.	0.246472	0.06261	2.716	0.82854710379441743	0.14410	0.01425	0.04802	N	AEFDBCI	0.022418	0.01119	N	-1.17894961244584	0.05319	0.2421863	-1.33059016686595	0.04040	0.1897337	0.999827307661184	0.43622	0.634777	0.41761	0	0.643519	0.57511	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	.	.	.	-1.177000	0.03206	0.068000	0.14222	-0.618000	0.04565	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1941.43	35	chr21	44330725	.	A	C	1941.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.456;DP=527;ExcessHet=0;FS=1.19;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.419;SOR=0.588	GT:AD:DP:GQ:PL	0/1:87,84:171:99:1953,0,1974	9	0	1	0
chr22	17159184	17159184	G	C	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_033070:exon1:c.C68G:p.A23G	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0119	0	.	0	0	0	.	0.5	2.59e-05	4	154602	rs762935429	1.976e-05	1.851e-05	1.785e-05	2.188e-05	0.0005	1.269e-05	1.077e-05	0.0003	0.0002	0	0	0.0004	0	0	0	2.203e-06	9.459e-05	0.0005	3.315e-05	3.286e-05	2.59e-05	4.077e-05	0.0004	1.27e-05	8.04e-06	7.312e-05	3.037e-05	0	0	0	0.0006	0	0	0	1.48e-05	0	0.0004	0.279	0.15561	T	0.545	0.30339	T	0.252	0.37518	B	0.046	0.33554	B	0.092628	0.02469	N	2.156600	1	0.08975	N	.	.	.	1.9	0.25344	T	-0.13	0.31375	N	0.162	0.30574	-1.0637	0.10855	T	0.029	0.12322	T	10	0.0019942522	0.00028	T	.	.	.	0.011	0.01250	0.439	0.49321	0.0297737177859	0.01360	0.2856602383385985	0.28479	0.183019468109	0.20584	0.743837893009	0.73537	T	0.002232	0.01633	T	-0.303529	0.08331	T	-0.673775	0.07368	T	0.375364273786545	0.28004	T	0.329067	0.15423	T	0.040015228	0.05634	0.055125155	0.09611	0.040015228	0.05634	0.055125155	0.09610	-3.592	0.17742	T	.	.	0.064	0.08176	B	.;.	.;.	0.522668	0.08917	5.695	0.89773634207811637	0.19088	0.04800	0.10519	N	ALL	0.042748	0.06672	N	-1.26777256562825	0.04070	0.1830002	-1.36495707322495	0.03632	0.1698515	0.999999999964074	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.15	-1.27	0.08863	-0.473000	0.06694	0.291000	0.16873	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5715:0.0:0.4285:0.0	4.993	0.13569	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006345	0.000000	0.011290	0.015464	0.000000	0.000000	0.000000	0.004545	0.05	609.43	35	chr22	17159184	.	G	C	609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.224;DP=324;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.98;SOR=0.438	GT:AD:DP:GQ:PL	0/1:20,27:47:99:621,0,470	9	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F,CLTCL1:NM_007098:exon2:c.G130T:p.V44F	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027750	0.005102	0.013587	0.038462	0.000000	0.008621	0.051829	0.049242	0.15	3604.45	38	chr22	19275743	.	C	A	3604.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=569;ExcessHet=0.7463;FS=3.685;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.04;SOR=0.675	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1327,0,1104	7	0	3	0
chr22	20996785	20996785	T	C	exonic	LZTR1	.	nonsynonymous SNV	LZTR1:NM_006767:exon19:c.T2309C:p.V770A	Noonan syndrome 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	798071	LZTR1-related_schwannomatosis|not_specified|not_provided|Hereditary_cancer-predisposing_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.335	0.0938021153193	.	.	4.975e-05	0	0	0	0	3.022e-05	0	0.0002	4.53e-05	7	154602	rs752880731	2.942e-05	2.941e-05	2.043e-05	3.851e-05	0.0005	2.217e-05	1.97e-05	0.0002	0.0002	0	0	0	0	0	0.0005	1.259e-05	4.968e-05	0.0003	1.971e-05	1.969e-05	2.571e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0002	0.197	0.20607	T	0.462	0.12526	T	0.979	0.59044	D	0.581	0.50218	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	-0.46	0.70014	T	-1.43	0.35194	N	0.827	0.82257	-0.4214	0.71347	T	0.392	0.74546	T	10	0.36777124	0.53237	T	0.093802	0.76138	D	0.335	0.65718	0.437	0.48993	0.662442163852	0.65961	0.5158371027638383	0.51506	0.0763063782578	0.08565	0.787131428719	0.80006	T	0.066024	0.32839	T	-0.0741497	0.40660	T	-0.0439635	0.67433	D	0.218964889645576	0.21412	T	0.810219	0.46129	T	0.2103275	0.43326	0.15434203	0.36228	0.2103275	0.43326	0.15434203	0.36227	-9.124	0.68491	D	0.12599599016221305	0.12637	0.433	0.61357	A	.;.	.;.	4.797793	0.77929	26.8	0.99486029985715463	0.67180	0.98758	0.86475	D	AEFGBHCI	0.817808	0.73921	D	0.505935215048662	0.67441	5.081948	0.537756541897708	0.70548	5.521707	0.999999999998515	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	6.042000	0.70632	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.352	0.60051	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	.	.	.	.	.	.	.	.	0.05	1737.43	34	chr22	20996785	.	T	C	1737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.767;DP=497;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.412;SOR=0.674	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1749,0,2107	9	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:13,3:16:44:44,0,303	2	0	8	0
chr22	21644159	21644159	G	A	exonic	SDF2L1	.	nonsynonymous SNV	SDF2L1:NM_022044:exon3:c.G650A:p.G217D	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0447191739502	0.0038	0.00159744	0.0027	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0004	0.0027684	428	154602	rs115168940	0.0038	0.0038	0.0039	0.0038	0.0073	0.0037	0.0037	0.0055	0.0049	0.0013	0.0014	0.0059	0	0.0005	0.0073	0.0045	0.0044	0.0005	0.0024	0.0024	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0008	0	0.0020	0.0049	0	0.0004	0.0034	0.0041	0.0024	0.0002	0.57	0.06184	T	0.681	0.06090	T	0.514	0.37393	P	0.054	0.25828	B	0.016671	0.27917	N	0.371241	0.781482	0.34272	D	1.59	0.40313	L	-1.22	0.78752	T	0.1	0.05810	N	0.266	0.30118	-0.7785	0.56387	T	0.116	0.40986	T	10	0.0073853135	0.00168	T	0.044719	0.61626	D	0.313	0.63482	.	.	0.765095103448	0.76294	0.6927252417250336	0.69212	0.726935891434	0.62541	0.406749486923	0.26007	T	0.009684	0.08804	T	-0.301714	0.08499	T	-0.204249	0.54243	T	0.0133324912370801	0.00240	T	0.620638	0.23835	T	0.1369972	0.31739	0.14080918	0.33553	0.1369972	0.31739	0.14080918	0.33552	-3.821	0.21119	T	.	.	0.099	0.16886	B	.	.	1.904878	0.24190	16.30	0.96348574672304754	0.29506	0.65494	0.32756	D	AEFDGBHCI	0.442773	0.50036	N	-0.60194394863958	0.18886	0.9841236	-0.526318390417999	0.21439	1.159821	0.999999999962908	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.630245	0.45026	0	0.735409	0.98432	0	.	.	4.62	3.58	0.40133	1.681000	0.37234	.	.	0.613000	0.49114	0.008000	0.17931	1.000000	0.68203	0.959000	0.51448	0.0:0.1674:0.8326:0.0	12.649	0.56113	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.013587	0.011696	0.000000	0.000000	0.006098	0.003788	0.1	3231.14	33	chr22	21644159	.	G	A	3231.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.14;DP=493;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-0.576;SOR=0.704	GT:AD:DP:GQ:PL	0/1:44,67:111:99:1914,0,1069	8	0	2	0
chr22	22488805	22488805	A	C	exonic	ZNF280B	.	nonsynonymous SNV	ZNF280B:NM_080764:exon4:c.T594G:p.N198K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00252688950903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.061	0.04307	-0.9942	0.31512	T	0.029	0.12409	T	9	0.05628407	0.06286	T	0.002527	0.05065	T	.	.	0.475	0.55182	0.0954503805726	0.09146	0.06166468175566257	0.06106	.	.	0.266985476017	0.05751	T	.	.	.	-0.336859	0.05609	T	-0.721651	0.04716	T	0.0755121106860529	0.09403	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14660	B	.;.	.;.	0.250540	0.06301	2.756	0.4548289947603445	0.03573	0.10114	0.15709	N	AEFBCI	0.091929	0.18615	N	-1.08875478264031	0.06849	0.3164875	-1.11981966354707	0.07322	0.3557024	0.99962066985609	0.41093	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.32	-0.817	0.10289	0.215000	0.17352	.	.	0.756000	0.94297	0.021000	0.19753	0.009000	0.19889	0.156000	0.20513	0.4114:0.3318:0.096:0.1608	1.752	0.02796	976	0.04745	Domain of unknown function DUF4195;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	.	.	.	.	.	.	.	.	0.05	1761.43	43	chr22	22488805	.	A	C	1761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.373;DP=503;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.194;SOR=0.616	GT:AD:DP:GQ:PL	0/1:94,67:161:99:1773,0,2650	9	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:63,21:84:99:692,0,2582	3	0	7	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	586.45	59	chr22	23311830	.	G	A	586.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=598;ExcessHet=0.7463;FS=41.55;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=57.49;MQRankSum=-8.96;QD=2;ReadPosRankSum=-2.878;SOR=3.036	GT:AD:DP:GQ:PL	0/1:71,11:82:99:181,0,1845	7	0	3	0
chr22	24184196	24184196	A	G	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon4:c.A500G:p.Q167R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0159881866537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	0.98526	0.40259	D	3.1	0.87590	M	2.99	0.09262	T	-2.03	0.46673	N	0.827	0.82257	-1.1100	0.03070	T	0.073	0.29483	T	10	0.76971775	0.76984	D	0.015988	0.37021	T	0.248	0.55615	0.531	0.63855	0.318252033908	0.31440	0.9404017170496947	0.94021	0.757803639477	0.64090	0.532331466675	0.43363	T	0.04606	0.27311	T	0.0259974	0.55189	T	-0.200433	0.54606	T	0.964543879032135	0.66990	D	0.855414	0.54290	D	0.26278225	0.49341	0.26346824	0.52152	0.26278225	0.49341	0.26346824	0.52151	-4.037	0.24355	T	.	.	0.677	0.72014	P	.	.	4.053398	0.60094	24.2	0.99698774388286016	0.80453	0.96689	0.70415	D	AEFBI	0.768213	0.70384	D	0.414389128409707	0.62212	4.433595	0.290003101562571	0.54953	3.659138	0.999998116928616	0.74766	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.66	3.66	0.41111	4.390000	0.59409	11.053000	0.85327	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	1.0:0.0:0.0:0.0	10.627	0.44707	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2580.43	37	chr22	24184196	.	A	G	2580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.426;DP=539;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.586;SOR=0.798	GT:AD:DP:GQ:PL	0/1:96,105:201:99:2592,0,2447	9	0	1	0
chr22	27798945	27798945	-	TGCTGC	exonic	MN1	.	nonframeshift insertion	MN1:NM_002430:exon1:c.1598_1599insGCAGCA:p.Q550_R551insQQ	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352190	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0021	0.0071	0.0015	0	0.0056	0	0.0004	0.0002689	7	26028	rs572936881	0.0048	0.0049	0.0050	0.0047	0.0056	0.0047	0.0047	0.0054	0.0054	0.0019	0.0037	0.0045	0.0008	0.0027	0.0016	0.0056	0.0045	0.0005	0.0039	0.0039	0.0042	0.0036	0.0058	0.0036	0.0035	0.0053	0.0051	0.0018	0.0110	0.0033	0.0047	0.0014	0.0018	0.0034	0.0058	0.0059	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4129.77	42	chr22	27798945	.	T	TTGCTGC	4129.77	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.514;DP=463;ExcessHet=1.5895;FS=0.556;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=0.752;SOR=0.645	GT:AD:DP:GQ:PL	0/1:18,26:44:99:1011,0,678	9	0	1	0
chr22	27799019	27799019	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G1525A:p.G509R	Meningioma, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.450389650239	.	.	1.08e-05	0	0	0	0	1.944e-05	0	0	6.5e-06	1	154602	rs750223477	1.371e-06	1.368e-06	1.363e-06	1.378e-06	1.163e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	0	1.163e-05	6.579e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.7	0.43825	L	0.82	0.48142	T	-5.24	0.83967	D	0.597	0.61596	-0.7123	0.59839	T	0.202	0.55822	T	10	0.7261462	0.73986	D	0.45039	0.94331	D	0.350	0.67142	0.163	0.06730	0.830204933196	0.82859	0.5631363646666874	0.56240	.	.	0.878211259842	0.93718	D	0.510078	0.82662	D	0.162359	0.70420	D	-0.0045596	0.70039	D	0.991491615772247	0.81797	D	0.777822	0.41150	T	0.8752438	0.89280	0.79458374	0.87931	0.8752438	0.89281	0.79458374	0.87931	-3.146	0.11832	T	.	.	0.911	0.83490	P	.	.	4.501093	0.70397	25.5	0.99884114199925322	0.95970	0.95884	0.66568	D	AEFDBCI	0.744043	0.68715	D	0.487671595248547	0.66368	4.941222	0.496996680669056	0.67789	5.131485	0.999999999999863	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	4.78	4.78	0.60666	4.346000	0.59146	7.465000	0.59093	0.442000	0.21104	0.933000	0.32380	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.417	0.83582	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	650.43	42	chr22	27799019	.	C	T	650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=408;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.787;SOR=0.682	GT:AD:DP:GQ:PL	0/1:38,25:63:99:662,0,1028	9	0	1	0
chr22	30264407	30264407	C	T	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.G172A:p.G58R,OSM:NM_020530:exon3:c.G235A:p.G79R	.	425	1095	2	0	0	2	0.000912409	.	.	.	2379467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.124	0.0170308012819	7.8e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs201309766	6.979e-05	7.046e-05	6.399e-05	7.564e-05	0.0002	5.847e-05	5.458e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0027	0	1.875e-05	0.0002	1.259e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	9.414e-05	0.0003	6.512e-05	5.323e-05	8.875e-05	5.285e-05	2.413e-05	0	0.0003	0.0023	0	0	0	1.47e-05	0.0010	0	0.849	0.02760	T	0.107	0.37730	T	0.974	0.57829	D	0.432	0.45448	B	0.200627	0.16609	N	0.447704	1	0.08975	N	0.975	0.24501	L	0.88	0.46028	T	-3.05	0.62976	D	0.115	0.28849	-1.0583	0.12184	T	0.069	0.28346	T	10	0.012436718	0.00267	T	0.017031	0.38558	T	0.124	0.34239	0.608	0.74063	0.51098835382	0.50741	0.3514713097159909	0.35061	0.616651085367	0.56118	0.346108019352	0.17347	T	0.792151	0.94611	D	-0.264782	0.12344	T	-0.43659	0.29190	T	0.135352280672931	0.15868	T	0.684832	0.29327	T	0.1265225	0.29632	0.10349002	0.24831	0.1265225	0.29632	0.10349002	0.24830	-3.892	0.22182	T	.	.	0.271	0.50527	B	.;.	.;.	1.102738	0.14872	11.40	0.77363440788990545	0.11845	0.06112	0.12089	N	AEFBCI	0.074140	0.14852	N	-0.578131697500554	0.19610	1.027672	-0.739898980609514	0.15971	0.8426153	0.99972530039703	0.42220	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.73	1.56	0.22423	-0.144000	0.10263	0.268000	0.16624	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.7583:0.0:0.2417	6.134	0.19440	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	.	.	.	.	.	.	.	.	0.05	376.43	38	chr22	30264407	.	C	T	376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.82;DP=344;ExcessHet=0;FS=2.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-0.418;SOR=1.162	GT:AD:DP:GQ:PL	0/1:32,14:46:99:388,0,778	9	0	1	0
chr22	30374007	30374007	-	GGGAGCTGG	exonic	CCDC157	.	nonframeshift insertion	CCDC157:NM_001017437:exon9:c.1588_1589insGGGAGCTGG:p.L532_E533insGEL,CCDC157:NM_001318334:exon9:c.1588_1589insGGGAGCTGG:p.L532_E533insGEL	.	412	1108	1	0	1	2	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	815.39	34	chr22	30374007	.	C	CGGGAGCTGG	815.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.867;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.75;SOR=0.651	GT:AD:DP:GQ:PL	0/1:30,22:52:99:827,0,1178	9	0	1	0
chr22	39513545	39513545	T	C	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.T614C:p.I205T,MIEF1:NM_019008:exon6:c.T614C:p.I205T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0111785295086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.017	0.60972	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.078099	0.999927	0.51308	D	1.59	0.40313	L	3.12	0.08106	T	-1.97	0.45587	N	0.668	0.67650	-1.0462	0.15476	T	0.027	0.11663	T	10	0.28728196	0.46311	T	0.011179	0.28538	T	0.197	0.47942	0.479	0.55823	0.434606191737	0.43079	0.6967121627676782	0.69612	0.646926983572	0.58097	0.768396914005	0.77185	T	0.023916	0.18170	T	-0.00951075	0.50334	T	-0.251438	0.49675	T	0.673523485660553	0.39495	D	0.941806	0.78262	D	0.6869494	0.77346	0.41197166	0.65413	0.6869494	0.77347	0.41197166	0.65413	-6.327	0.48936	T	.	.	0.511	0.65078	A	.;.;.	.;.;.	3.964871	0.58176	23.9	0.99494184934074625	0.67630	0.98101	0.79606	D	AEFDBI	0.785088	0.71558	D	0.268882310333112	0.54578	3.623107	0.385690595718469	0.60681	4.258515	0.999999999999953	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	6.263000	0.72483	7.926000	0.74773	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.629	0.84866	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	.	.	.	.	.	.	.	.	0.05	1593.43	34	chr22	39513545	.	T	C	1593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.286;DP=465;ExcessHet=0;FS=3.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.004;SOR=0.465	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1605,0,2178	9	0	1	0
chr22	39663823	39663823	G	C	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon18:c.G3474C:p.Q1158H,CACNA1I:NM_021096:exon19:c.G3579C:p.Q1193H	.	256	1257	9	0	0	9	0.00356718	.	.	.	2819537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.495	0.18197023949	0.0037	0.000798722	0.0035	0.0009	0.0009	0	0.0017	0.0057	0.0022	0.0005	0.0034346	531	154602	rs58500586	0.0040	0.0040	0.0040	0.0040	0.0040	0.0039	0.0039	0.0039	0.0038	0.0008	0.0013	0.0334	0	0.0014	0.0033	0.0040	0.0049	0.0005	0.0032	0.0032	0.0031	0.0032	0.0039	0.0029	0.0028	0.0035	0.0034	0.0008	0	0.0036	0.0325	0	0.0008	0	0.0039	0.0033	0.0002	0.062	0.39097	T	0.099	0.39340	T	0.995	0.77913	D	0.834	0.86255	P	0.000001	0.62929	D	0.057229	0.999703	0.48408	D	1.53	0.38800	L	-4.32	0.97218	D	-1.85	0.43524	N	0.424	0.49965	0.866	0.95222	D	0.886	0.96202	D	10	0.0099307	0.00223	T	0.18197	0.85590	D	0.495	0.78036	0.322	0.30226	0.575872055055	0.57256	0.7720933594612088	0.77159	0.919939869185	0.71406	0.56018435955	0.47294	T	0.313575	0.68531	T	-0.164328	0.26097	T	-0.0078684	0.69824	D	0.0288592784236747	0.01817	T	0.870713	0.57574	D	0.18445477	0.39761	0.17871086	0.40557	0.18445477	0.39760	0.17871086	0.40557	-10.51	0.80738	D	.	.	0.226	0.46539	B	.;.;.;.	.;.;.;.	3.645095	0.51706	23.1	0.99636912810891531	0.76387	0.81778	0.41114	D	AEFDGBHCI	0.639350	0.61743	D	0.407672679434896	0.61845	4.39106	0.404821502751809	0.61864	4.392677	0.999999999998786	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	2.568000	0.45628	1.950000	0.29880	-0.724000	0.03774	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:1.0:0.0	19.174	0.93579	843	0.36859	.;.;.;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	4345.43	34	chr22	39663823	.	G	C	4345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.254;DP=614;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.675;SOR=0.672	GT:AD:DP:GQ:PL	0/1:124,172:296:99:4357,0,2903	9	0	1	0
chr22	41586172	41586172	C	T	exonic	PMM1	.	nonsynonymous SNV	PMM1:NM_002676:exon2:c.G109A:p.A37T	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0745809131451	.	0.000199681	0.0001	9.796e-05	0.0002	0	0	4.538e-05	0	0.0005	9.7e-05	15	154602	rs542899408	7.883e-05	8.209e-05	6.412e-05	9.369e-05	0.0007	6.68e-05	6.214e-05	0.0005	0.0005	5.985e-05	0.0001	3.829e-05	0	0	0.0005	3.418e-05	0.0001	0.0007	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	9.003e-05	7.218e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.263	0.16412	T	0.311	0.19660	T	0.0	0.02946	B	0.0	0.01387	B	0.172779	0.17327	N	0.579827	0.961079	0.26122	N	0.79	0.19579	N	-4.82	0.98198	D	-0.37	0.13226	N	0.29	0.32812	0.203	0.85960	D	0.799	0.93198	D	10	0.07840848	0.12493	T	0.074581	0.72077	D	0.258	0.56959	0.331	0.31681	0.923209768708	0.92242	0.33109612779718284	0.33022	0.343857825352	0.36312	0.406272530556	0.25940	T	0.690261	0.90987	D	-0.260927	0.12793	T	-0.260861	0.48738	T	0.0173662253853184	0.00475	T	0.489851	0.15048	T	0.034704678	0.03946	0.053919658	0.09175	0.034704678	0.03946	0.053919658	0.09175	-5.305	0.39993	T	.	.	0.081	0.08368	B	.	.	1.777443	0.22601	15.69	0.96056974389854899	0.28582	0.73038	0.35733	D	AEFBI	0.222293	0.34681	N	-0.88754881873684	0.11138	0.5358867	-0.780586264683251	0.14971	0.7850493	0.950279873373783	0.27887	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.18	1.96	0.25203	1.226000	0.32167	1.786000	0.28758	-0.860000	0.02636	0.548000	0.27330	0.928000	0.28476	0.485000	0.28678	0.0:0.6429:0.1339:0.2233	6.133	0.19432	107	0.95615	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1071.43	38	chr22	41586172	.	C	T	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.686;DP=419;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.758;SOR=0.796	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1083,0,1107	9	0	1	0
chr22	42876170	42876170	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1192C:p.G398R,PACSIN2:NM_001349974:exon9:c.G1075C:p.G359R,PACSIN2:NM_001184970:exon10:c.G1315C:p.G439R,PACSIN2:NM_001349968:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349971:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349972:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349973:exon10:c.G1198C:p.G400R,PACSIN2:NM_007229:exon10:c.G1315C:p.G439R,PACSIN2:NM_001349969:exon11:c.G1321C:p.G441R,PACSIN2:NM_001349970:exon11:c.G1321C:p.G441R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.0530753557218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.83351	D	0.984	0.60733	D	0.949	0.68658	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.37	0.34214	L	0.71	0.51228	T	-6.91	0.93329	D	0.967	0.97750	-0.5260	0.67692	T	0.279	0.65079	T	10	0.8409664	0.83253	D	0.053075	0.65324	D	0.432	0.73807	0.698	0.83499	0.717345707198	0.71486	0.9082068975641326	0.90793	1.20414093018	0.80632	0.800867199898	0.82094	T	0.251894	0.65675	T	0.292036	0.82323	D	0.181713	0.82095	D	0.998328506946564	0.93833	D	0.964504	0.87464	D	0.8715425	0.88984	0.8007015	0.88313	0.8715425	0.88985	0.8007015	0.88314	-10.858	0.78873	D	.	.	0.980	0.91062	P	.;.;.;.;.;.	.;.;.;.;.;.	4.850563	0.79284	27.1	0.99923753845000329	0.98917	0.99027	0.90159	D	AEFDBHI	0.910423	0.86832	D	0.735828190663937	0.81979	7.650927	0.703653582705833	0.82657	7.821377	0.999999999995945	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	7.505000	0.80519	5.792000	0.49877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	18.415	0.90512	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	122.01	57	chr22	42876170	.	C	G	122.01	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.997;DP=540;ExcessHet=0.2348;FS=63.084;InbreedingCoeff=-0.1896;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=2.44;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:14:0|1:42876169_C_T:14,0,1386:42876169	6	0	2	2
chr22	42876171	42876171	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1191C:p.E397D,PACSIN2:NM_001349974:exon9:c.G1074C:p.E358D,PACSIN2:NM_001184970:exon10:c.G1314C:p.E438D,PACSIN2:NM_001349968:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349971:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349972:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349973:exon10:c.G1197C:p.E399D,PACSIN2:NM_007229:exon10:c.G1314C:p.E438D,PACSIN2:NM_001349969:exon11:c.G1320C:p.E440D,PACSIN2:NM_001349970:exon11:c.G1320C:p.E440D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00861372167055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.09866	T	0.57	0.10930	T	0.002	0.09854	B	0.008	0.13708	B	0.000008	0.62929	N	0.142987	0.999992	0.58761	D	0.745	0.18958	N	0.8	0.48769	T	-0.66	0.20145	N	0.353	0.41557	-1.0846	0.06480	T	0.054	0.22770	T	10	0.09133887	0.15991	T	0.008614	0.22755	T	0.104	0.29647	0.383	0.40134	0.270001397563	0.26616	0.5478621391655023	0.54712	0.331067288021	0.35186	0.692147135735	0.66015	T	0.050046	0.28483	T	-0.197532	0.21160	T	-0.521518	0.20141	T	0.284930050373077	0.24378	T	0.681032	0.40135	T	0.07302861	0.16289	0.05882683	0.10938	0.07302861	0.16289	0.05882683	0.10938	-4.183	0.28163	T	.	.	0.114	0.29806	B	.;.;.;.;.;.	.;.;.;.;.;.	0.300918	0.06766	3.282	0.97610557482568283	0.34904	0.19696	0.20760	N	AEFDBHI	0.146058	0.26942	N	-1.07765627730981	0.07057	0.3266908	-0.966091899784433	0.10552	0.5321817	0.964408446714129	0.28757	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	-0.306	0.12147	-1.821000	0.01807	-0.631000	0.08125	-0.187000	0.09635	0.001000	0.13787	0.028000	0.21151	0.900000	0.43643	0.0:0.6498:0.0:0.3502	12.342	0.54424	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 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	119.17	40	chr22	42876171	.	C	G	119.17	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.904;DP=487;ExcessHet=0.2348;FS=63.084;InbreedingCoeff=-0.1088;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=2.47;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:14:0|1:42876169_C_T:14,0,1386:42876169	8	0	2	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016014	0.000000	0.000000	0.023810	0.000000	0.000000	0.016393	0.050000	0.05	41.48	13	chr22	46262935	.	C	T	41.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=108;ExcessHet=0;FS=0;InbreedingCoeff=-0.0571;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=0.339;SOR=0.765	GT:AD:DP:GQ:PL	0/1:10,3:13:53:53,0,244	9	0	1	0
chr22	46297422	46297422	G	T	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.G22T:p.D8Y	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00359022138172	0.0022	0.000798722	0.0019	0.0004	0.0011	0	0.0006	0.0029	0.0055	0.0006	0.0019211	297	154602	rs201868940	0.0029	0.0030	0.0031	0.0028	0.0033	0.0029	0.0028	0.0032	0.0032	0.0003	0.0017	0.0103	0	0.0004	0.0005	0.0033	0.0029	0.0004	0.0018	0.0018	0.0019	0.0018	0.0030	0.0016	0.0016	0.0027	0.0026	0.0006	0	0.0007	0.0089	0	9.409e-05	0	0.0030	0.0019	0.0002	0.003	0.68238	D	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.0	0.09167	T	-1.66	0.39692	N	0.237	0.26717	-0.9892	0.32803	T	0.018	0.07282	T	6	0.004812926	0.00102	T	0.00359	0.08216	T	0.034	0.08419	.	.	0.322230723748	0.31824	0.1897403424630426	0.18892	0.561206550401	0.52626	0.459089487791	0.33185	T	.	.	.	-0.581865	0.00188	T	-0.608456	0.12110	T	0.0594588973204298	0.07083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.894186	0.24061	16.25	0.98556596083164094	0.42922	0.02206	0.06433	N	ALL	0.044940	0.07291	N	-0.613890695189538	0.18526	0.9625419	-0.804448488505187	0.14388	0.7515169	0.999999966901385	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.35	0.068	0.13679	0.112000	0.15312	0.729000	0.21072	-0.169000	0.11342	0.001000	0.13787	0.001000	0.17328	0.006000	0.07323	0.1664:0.2724:0.5612:0.0	3.415	0.06946	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	.	.	.	.	.	.	.	.	0.05	1759.43	36	chr22	46297422	.	G	T	1759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.294;DP=477;ExcessHet=0;FS=1.22;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.689;SOR=0.566	GT:AD:DP:GQ:PL	0/1:92,78:170:99:1771,0,2058	9	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	12080.7	73	chr22	49922304	.	C	*	12080.7	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.08;DP=764;ExcessHet=0.0952;FS=0.682;InbreedingCoeff=0.3407;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=1.16;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,49:102:99:0|1:49922276_G_T:3863,2087,2078:49922276	6	2	2	0
chr22	50518185	50518185	G	A	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon7:c.G553A:p.V185I,NCAPH2:NM_014551:exon7:c.G553A:p.V185I,NCAPH2:NM_152299:exon7:c.G553A:p.V185I	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	7.7e-05	0.00239617	0.0015	9.667e-05	0.0003	0.0007	0	0.0002	0.0011	0.0095	0.0013066	202	154602	rs141520277	0.0007	0.0007	0.0004	0.0010	0.0097	0.0007	0.0007	0.0091	0.0089	2.987e-05	0.0002	0	0.0004	0.0001	0.0007	9.892e-05	0.0009	0.0097	0.0004	0.0004	0.0002	0.0007	0.0089	0.0004	0.0003	0.0068	0.0061	0.0001	0	0.0005	0	0.0002	9.413e-05	0	0.0002	0	0.0089	0.441	0.10482	T	0.662	0.10317	T	0.002	0.09854	B	0.002	0.06944	B	0.302923	0.14566	N	0.680496	0.999956	0.19072	N	-0.55	0.02420	N	.	.	.	-0.25	0.12661	N	0.115	0.12484	-0.9903	0.32525	T	0.026	0.11309	T	9	0.0058460534	0.00131	T	.	.	.	0.102	0.29158	.	.	0.043077524339	0.03247	0.15264807490715637	0.15186	0.0876526127641	0.09892	0.26955395937	0.06083	T	0.062638	0.31969	T	-0.530691	0.00380	T	-0.527401	0.19548	T	0.0134559734271834	0.00245	T	0.526647	0.21331	T	0.016304871	0.00189	0.020559615	0.00142	0.016304871	0.00189	0.020559615	0.00142	-4.001	0.30229	T	.	.	0.067	0.06205	B	.;.;.;.;.	.;.;.;.;.	2.317690	0.29672	18.20	0.90085364007390722	0.19369	0.22735	0.21846	N	AEFBCI	0.034646	0.04329	N	-0.986672695720712	0.08887	0.4184748	-0.77080244989161	0.15211	0.7989128	0.995998143665359	0.34457	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.23	2.83	0.32150	2.972000	0.48948	3.962000	0.40756	-0.105000	0.15698	0.989000	0.36753	0.994000	0.32194	0.138000	0.19872	0.765:0.1521:0.0829:0.0	6.741	0.22623	641	0.64016	Condensin II complex subunit H2, middle domain;.;Condensin II complex subunit H2, middle domain;Condensin II complex subunit H2, middle domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.011364	0.05	1230.43	33	chr22	50518185	.	G	A	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.718;DP=429;ExcessHet=0;FS=2.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.634;SOR=0.464	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1242,0,1402	9	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1111	927.46	606	chrX	6533750	.	C	T	927.46	.	AC=2;AF=0.111;AN=18;BaseQRankSum=3.31;DP=1715;ExcessHet=0.2348;FS=11.274;InbreedingCoeff=-0.1467;MLEAC=2;MLEAF=0.111;MQ=50.12;MQRankSum=-1.865;QD=2.01;ReadPosRankSum=2.76;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:220,58:278:99:.:.:909,0,8865:.	7	0	2	1
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5958.23	606	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	5958.23	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=1766;ExcessHet=0;FS=39.705;InbreedingCoeff=0.5912;MLEAC=1;MLEAF=0.05;MQ=48.87;MQRankSum=-1.097;QD=14.5;ReadPosRankSum=4.49;SOR=0.757	GT:AD:DP:GQ:PL	0/1:209,76:285:99:1610,0,4557	9	0	1	0
chrX	6533823	6533823	C	0	exonic	VCX3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2480.08	536	chrX	6533823	.	C	*	2480.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.647;DP=1689;ExcessHet=3.1439;FS=0;InbreedingCoeff=-0.2795;MLEAC=3;MLEAF=0.375;MQ=43.28;MQRankSum=2.7;QD=6.09;ReadPosRankSum=-1.527;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,45:222:99:.:.:1868,0,4955:.	2	0	2	6
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2213.76	525	chrX	6533828	.	C	*	2213.76	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.77;DP=1645;ExcessHet=1.1394;FS=0.808;InbreedingCoeff=-0.1733;MLEAC=3;MLEAF=0.375;MQ=44.04;MQRankSum=2.51;QD=6.05;ReadPosRankSum=-2.447;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,45:222:99:.:.:1868,0,4955:.	2	0	2	6
chrX	6533883	6533883	T	0	exonic	VCX3A	.	.	.	.	601	892	23	0	6	29	0.0127283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	129.62	299	chrX	6533883	.	T	*	129.62	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.041;DP=1121;ExcessHet=0.2348;FS=3.546;InbreedingCoeff=-0.2137;MLEAC=1;MLEAF=0.071;MQ=36.89;MQRankSum=0.109;QD=0.46;ReadPosRankSum=-2.69;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,45:222:99:.:.:1868,0,4955:.	6	0	1	3
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2855.6	268	chrX	7843933	.	A	*	2855.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.48;DP=2088;ExcessHet=0.8432;FS=4.354;InbreedingCoeff=-0.1556;MLEAC=1;MLEAF=0.071;MQ=48.67;MQRankSum=-1.363;QD=3.44;ReadPosRankSum=-4.535;SOR=1.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,14:193:54:.:.:54,0,7281:.	6	0	1	3
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1387.9	268	chrX	7843963	.	G	*	1387.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.865;DP=2148;ExcessHet=0.2633;FS=0;InbreedingCoeff=0.0188;MLEAC=1;MLEAF=0.063;MQ=54.76;MQRankSum=-12.94;QD=3.13;ReadPosRankSum=0.484;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,14:193:54:.:.:54,0,7281:.	7	0	1	2
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	49411.6	293	chrX	7843976	.	C	*	49411.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=2757;ExcessHet=1.5895;FS=0.561;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=50.26;MQRankSum=-10.23;QD=18.45;ReadPosRankSum=1.56;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,120:250:99:.:.:8636,4127,5241:.	8	0	2	0
chrX	8465953	8465953	T	C	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.T311C:p.L104P	.	583	926	13	0	0	13	0.00697051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.0148344	0.0091	0.02	0	0.0101	0.0024	0.0054	0.0183	0.0597	0.0004075	63	154602	rs757924718	0.0021	0.0041	0.0029	0.0005	0.0163	0.0021	0.0020	0.0150	0.0144	0.0100	0.0012	0.0005	0.0163	0.0012	0.0039	0.0011	0.0027	0.0097	0.0064	0.0084	0.0078	7.195e-05	0.0326	0.0059	0.0057	0.0259	0.0234	0.0128	0	0.0021	0.0010	0.0326	0.0014	0.0184	0.0030	0.0010	0.0193	0.077	0.34095	T	0.028	0.92824	D	0.995	0.67487	D	0.914	0.64984	D	.	.	.	.	0.999672	0.27400	N	2.215	0.62545	M	1.34	0.34841	T	-3.12	0.67705	D	0.077	0.31478	-0.9992	0.30143	T	0.117	0.41253	T	8	0.0037917495	0.00071	T	.	.	.	0.033	0.08068	.	.	0.0716867268079	0.06686	0.01163524341529036	0.01123	1.41972277544	0.85595	0.461865663528	0.33567	T	0.020686	0.16245	T	-0.669382	0.00055	T	-0.72391	0.04609	T	0.0342637401029684	0.02682	T	0.387861	0.15733	T	0.5320773	0.68949	0.47997195	0.69881	0.5320773	0.68950	0.47997195	0.69881	-4.74	0.33884	T	.	.	0.152	0.44227	B	.;.;.	.;.;.	1.555792	0.19936	14.51	0.48072168084454964	0.03982	0.01121	0.04088	N	AEFI	.	.	.	.	.	.	.	.	.	1.37016822449587E-4	0.05486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.654	0.17006	0.189000	0.16845	-1.360000	0.05625	0.304000	0.19002	0.017000	0.19353	0.000000	0.08366	0.009000	0.08673	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007641	0.000000	0.006276	0.007092	0.000000	0.013699	0.000000	0.020548	0.0625	412.73	24	chrX	8465953	.	T	C	412.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-4.629;DP=214;ExcessHet=0;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=34.9;MQRankSum=1.67;QD=10.32;ReadPosRankSum=2.03;SOR=0.754	GT:AD:DP:GQ:PL	0/1:25,15:40:99:423,0,798	7	0	1	2
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	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	0/1:123,36:162:99:.:.:612,0,4267:.	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|1:127,43:170:99:0|1:10469690_T_C:633,0,4349:10469690	2	0	8	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	855.13	159	chrX	10469693	.	T	C	855.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.741;DP=818;ExcessHet=2.8389;FS=132.372;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=0.056;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,43:167:99:0|1:10469690_T_C:641,0,4302:10469690	5	0	5	0
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	387.08	116	chrX	24364309	.	GCTC	*	387.08	.	AC=2;AF=0.1;AN=20;DP=706;ExcessHet=0.0405;FS=3.191;InbreedingCoeff=0.5699;MLEAC=2;MLEAF=0.1;MQ=60;QD=4.96;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,13:45:99:0|1:24364308_TG_T:331,0,1245:24364308	8	0	2	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	891.6	89	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	891.6	.	AC=5;AF=0.313;AN=16;BaseQRankSum=0.018;DP=696;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.3406;MLEAC=6;MLEAF=0.375;MQ=59.94;MQRankSum=0;QD=5.24;ReadPosRankSum=3.95;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15:49:99:1|0:24364308_TG_T:1293,0,1304:24364308	5	2	1	2
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	516.19	42	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*	516.19	.	AC=4;AF=0.2;AN=20;DP=658;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.5238;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=3.91;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15:49:99:1|0:24364308_TG_T:1293,0,1304:24364308	7	1	2	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	210.33	44	chrX	49039321	.	G	A	210.33	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.35;DP=461;ExcessHet=0.7463;FS=280.432;InbreedingCoeff=-0.3003;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=-0.037;SOR=8.409	GT:AD:DP:GQ:PL	0/1:70,35:105:99:133,0,957	4	0	3	3
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V,GAGE2A:NM_001127212:exon3:c.A122T:p.E41V,GAGE2C:NM_001472:exon3:c.A122T:p.E41V	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	GAGE|GAGE	.	.	.	.	.	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	0.006565	0.000000	0.002475	0.000000	0.000000	0.016667	0.008000	0.024194	0.05556	912.32	67	chrX	49591237	.	A	T	912.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.58;DP=766;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=37.26;MQRankSum=-3.888;QD=2.1;ReadPosRankSum=0.157;SOR=0.716	GT:AD:DP:GQ:PL	0/1:354,80:434:99:923,0,8726	8	0	1	1
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	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	0/1:105,530:635:99:16437,0,1221	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	0/1:578,75:653:99:370,0,18532	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	0/1:540,84:624:99:1274,0,18736	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	0/1:484,67:551:99:990,0,17529	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	0/1:125,377:502:99:12416,0,2199	0	1	9	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	0/1:393,69:462:99:832,0,13233	4	0	6	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	6121.17	451	chrX	55146242	.	C	T	6121.17	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.896;DP=4085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=0.288;SOR=0.605	GT:AD:DP:GQ:PL	0/1:326,74:400:99:1151,0,11545	5	0	5	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|1:349,38:387:99:0|1:55146247_G_C:425,0,14418:55146247	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|1:343,36:379:99:0|1:55146247_G_C:425,0,14226:55146247	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	0/1:148,215:363:99:6360,0,4095	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|1:335,36:371:99:0|1:55146247_G_C:449,0,13912:55146247	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	0/1:100,179:279:99:5862,0,2254	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	0/1:198,47:245:99:798,0,6972	3	0	7	0
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.022149	0.021277	0.020952	0.005988	0.000000	0.000000	0.043243	0.029940	0.15	1842.43	42	chrX	57594011	.	T	A	1842.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=293;ExcessHet=0;FS=0.928;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=29.64;MQRankSum=0.435;QD=20.7;ReadPosRankSum=1.45;SOR=0.559	GT:AD:DP:GQ:PL	0/1:25,30:55:99:818,0,679	8	1	1	0
chrX	70259192	70259192	G	A	exonic	P2RY4	.	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.C433T:p.R145C	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0671892039497	.	.	4.615e-05	0	0.0003	0	0	2.104e-05	0	0	3.88e-05	6	154602	rs779083147	1.457e-05	1.457e-05	1.633e-05	1.101e-05	0.0002	8.63e-06	6.98e-06	9.327e-05	6.58e-05	0	0.0002	0	0	2.474e-05	0	8.313e-06	2.169e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.075	0.42794	T	0.883	0.48537	P	0.534	0.48679	P	0.006502	0.31983	U	0.225320	0.999972	0.18612	N	1.95	0.52479	M	1.06	0.39781	T	-2.72	0.57920	D	0.08	0.05542	-0.7369	0.58611	T	0.200	0.55598	T	10	0.22726518	0.39602	T	0.067189	0.70095	D	0.137	0.36984	0.627	0.76254	0.71204735072	0.70952	0.38582829178056804	0.38497	0.125945359065	0.14199	0.44898211956	0.31804	T	0.193902	0.54951	T	-0.449655	0.01134	T	-0.587482	0.13884	T	0.260845759680666	0.23351	T	0.929107	0.73907	D	0.21791165	0.44286	0.21885228	0.46603	0.21791165	0.44286	0.21885228	0.46602	-7.821	0.59844	D	.	.	0.192	0.41156	B	.	.	2.600456	0.33751	19.43	0.99877407120082262	0.95410	0.09284	0.15071	N	AEFBI	.	.	.	.	.	.	.	.	.	0.682183300018903	0.22493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2	4.2	0.48814	1.618000	0.36565	.	.	0.665000	0.62972	0.006000	0.17386	0.004000	0.18990	0.940000	0.48062	0.0:0.0:0.7973:0.2027	10.840	0.45916	49	0.97662	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2637.43	40	chrX	70259192	.	G	A	2637.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=708;ExcessHet=0;FS=1.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.037;SOR=0.85	GT:AD:DP:GQ:PL	0/1:110,101:211:99:2649,0,2679	9	0	1	0
chrX	72129941	72129941	G	A	exonic	RTL5	.	nonsynonymous SNV	RTL5:NM_001024455:exon1:c.C1600T:p.R534C	.	433	1078	9	2	0	13	0.00599355	.	.	.	1196403	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.00205762552757	0.0003	0.000264901	0.0004	0	0	0	0	0.0007	0.0016	0.0001	0.0004075	63	154602	rs201122770	0.0004	0.0004	0.0004	0.0004	0.0085	0.0004	0.0004	0.0063	0.0055	0.0002	0.0001	0	0	2.468e-05	0.0085	0.0004	0.0009	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	3.259e-05	0	0.0002	0	0	0	0	0.0005	0.0033	0	.	.	.	0.039	0.51112	D	0.999	0.77913	D	0.681	0.53500	P	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	0.146	0.14763	-1.0553	0.12961	T	0.034	0.14813	T	8	0.04572305	0.03677	T	0.002058	0.03775	T	.	.	.	.	0.104622674875	0.10061	0.10675133778025742	0.10605	.	.	0.481512129307	0.36265	T	0.008167	0.07514	T	-0.343047	0.05179	T	-0.360625	0.37981	T	0.0234708476110938	0.01080	T	0.712229	0.32360	T	0.11841067	0.27899	0.1761174	0.40124	0.11841067	0.27899	0.1761174	0.40123	-7.391	0.56841	T	.	.	0.137	0.29887	B	.	.	2.047866	0.26035	16.97	0.97678823172180584	0.35300	0.13250	0.17750	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999909703249938	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.87	2.99	0.33673	0.751000	0.26013	5.958000	0.51771	0.676000	0.76740	0.770000	0.29357	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.7525:0.2475	7.799	0.28328	264	0.89640	.	.	.	.	.	.	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	1	0	0.009649	0.000000	0.007421	0.011858	0.000000	0.023529	0.008850	0.015789	0.05	2920.43	38	chrX	72129941	.	G	A	2920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=620;ExcessHet=0;FS=1.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.932;SOR=0.785	GT:AD:DP:GQ:PL	0/1:107,120:227:99:2932,0,2365	9	0	1	0
chrX	75785041	75785041	A	G	exonic	MAGEE2	.	nonsynonymous SNV	MAGEE2:NM_138703:exon1:c.T11C:p.V4A	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00709480685192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.878e-07	9.105e-07	1.445e-06	0	3.391e-05	0	0	.	.	0	0	0	3.391e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.026	0.55759	D	0.984	0.60733	D	0.935	0.67021	D	.	.	.	.	0.973689	0.25533	N	1.1	0.28011	L	3.36	0.05918	T	-0.17	0.09627	N	0.315	0.35514	-1.0022	0.29284	T	0.024	0.10194	T	9	0.28062907	0.45639	T	0.007095	0.18786	T	0.070	0.20419	0.401	0.43081	0.566629817802	0.56326	0.426789600324093	0.42595	0.076962351002	0.08643	0.736687958241	0.72486	T	0.004696	0.04103	T	-0.267627	0.12022	T	-0.622204	0.11013	T	0.694611157277904	0.40463	D	0.432757	0.11777	T	0.108274765	0.25600	0.21569638	0.46169	0.108274765	0.25600	0.21569638	0.46168	-2.961	0.09767	T	.	.	0.154	0.33981	B	.	.	3.421312	0.47502	22.5	0.99622183160786404	0.75473	0.55012	0.29758	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.778642236857883	0.23799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.86	2.86	0.32427	2.471000	0.44786	8.154000	0.76719	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	6.717	0.22496	222	0.91398	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	892.43	35	chrX	75785041	.	A	G	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=388;ExcessHet=0;FS=2.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.67;SOR=1.002	GT:AD:DP:GQ:PL	0/1:45,36:81:99:904,0,1270	9	0	1	0
chrX	76429971	76429971	A	G	exonic	MAGEE1	.	nonsynonymous SNV	MAGEE1:NM_020932:exon1:c.A2041G:p.M681V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0117351664862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.147	0.32783	T	0.872	0.47902	P	0.637	0.51992	P	.	.	.	.	1	0.08975	N	0.6	0.15550	N	4.13	0.02865	T	-1.54	0.37375	N	0.199	0.21969	-0.9200	0.45554	T	0.009	0.03096	T	9	0.19013369	0.34644	T	0.011735	0.29644	T	0.077	0.22490	0.308	0.27967	0.123314135267	0.11883	0.3757554135382434	0.37489	0.380110707672	0.39380	0.608645558357	0.54124	T	0.012534	0.11001	T	-0.395587	0.02475	T	-0.80601	0.01757	T	0.160753927982676	0.17927	T	0.473853	0.14122	T	0.16362625	0.36516	0.22304338	0.47170	0.16362625	0.36516	0.22304338	0.47169	-3.59	0.17713	T	.	.	0.167	0.36850	B	.	.	1.813487	0.23047	15.86	0.65384492911815251	0.07757	0.07585	0.13596	N	AEFBI	.	.	.	.	.	.	.	.	.	0.818258183788373	0.24477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.35	1.11	0.19640	0.156000	0.16200	0.421000	0.18220	0.660000	0.55035	0.938000	0.32564	0.000000	0.08366	0.997000	0.79791	0.6769:0.0:0.0:0.3231	3.998	0.09057	203	0.92088	MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1623.43	35	chrX	76429971	.	A	G	1623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.402;DP=428;ExcessHet=0;FS=1.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.442;SOR=0.547	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1635,0,1140	9	0	1	0
chrX	86148643	86148643	T	C	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.T23C:p.V8A,DACH2:NM_053281:exon1:c.T23C:p.V8A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.270126585564	9.5e-05	.	6.901e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs372249697	1.876e-05	1.912e-05	1.11e-05	3.471e-05	0.0003	1.225e-05	9.96e-06	0.0002	0.0001	0	0	0	0	0	0.0003	3.632e-06	2.231e-05	0.0003	2.703e-05	2.612e-05	3.858e-05	0	5.672e-05	7.18e-06	2.99e-06	1.505e-05	8.17e-06	0	0	0	0	0	0	0	5.672e-05	0	0	0.038	0.52492	D	0.385	0.16037	T	0.75	0.43260	P	0.554	0.49340	P	0.055873	0.22606	N	0.307980	0.869175	0.35530	D	0.695	0.17993	N	-1.99	0.85320	D	0.33	0.04613	N	0.113	0.12627	-0.2283	0.76932	T	0.460	0.79015	T	10	0.18623462	0.34080	T	0.270127	0.89846	D	0.280	0.59740	.	.	0.679697690268	0.67697	0.284635990108321	0.28376	0.39003678143	0.40224	0.768338322639	0.77177	T	0.082294	0.36795	T	-0.206867	0.19824	T	-0.242778	0.50528	T	0.13765742135028	0.16072	T	0.665133	0.27420	T	0.12608854	0.29542	0.17572379	0.40058	0.12608854	0.29541	0.17572379	0.40057	-3.62	0.18861	T	.	.	0.095	0.30130	B	.;.	.;.	2.106240	0.26800	17.24	0.98726427815802931	0.45289	0.78474	0.38721	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.983682901759247	0.30598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.64	4.64	0.57399	2.280000	0.43103	3.220000	0.36848	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.311	0.59815	949	0.11373	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	401.43	39	chrX	86148643	.	T	C	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.199;DP=281;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.46;SOR=0.567	GT:AD:DP:GQ:PL	0/1:23,18:41:99:413,0,582	9	0	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	238.93	40	chrX	91436668	.	G	A	238.93	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.083;DP=730;ExcessHet=0.7463;FS=172.257;InbreedingCoeff=-0.1901;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.879;SOR=9.419	GT:AD:DP:GQ:PL	0/1:101,38:139:99:187,0,1725	7	0	3	0
chrX	101490261	101490261	G	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G1672C:p.A558P	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.017737179562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6e-07	9.105e-07	0	2.934e-06	1.22e-06	0	0	.	.	0	0	0	0	0	0	1.22e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	.	.	.	0.151	0.15469	-1.0178	0.24431	T	0.052	0.22076	T	4	0.082437515	0.13607	T	0.017737	0.39556	T	0.020	0.03691	.	.	0.18995819373	0.18626	0.19057574849772474	0.18975	.	.	0.26898920536	0.06010	T	.	.	.	-0.440627	0.01283	T	-0.870706	0.00736	T	0.197886496782303	0.20299	T	0.364964	0.08484	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.38941	B	.	.	1.800962	0.22893	15.80	0.84224674782475417	0.15168	0.09727	0.15418	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.782451526878275	0.23868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	0.059	0.13644	-0.484000	0.06608	0.596000	0.19873	0.596000	0.33519	0.000000	0.06391	0.005000	0.19230	0.860000	0.40782	0.0994:0.1512:0.438:0.3114	2.746	0.04942	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1881.43	94	chrX	101490261	.	G	C	1881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.74;DP=627;ExcessHet=0;FS=3.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.321;SOR=0.905	GT:AD:DP:GQ:PL	0/1:68,77:145:99:1893,0,1847	9	0	1	0
chrX	102937494	102937494	A	G	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.A176G:p.D59G	.	0	1489	25	8	0	41	0.0135807	.	.	.	45690	not_provided|Deafness-intellectual_disability,_Martin-Probst_type_syndrome	MedGen:C3661900|MONDO:MONDO:0010353,MeSH:C564495,MedGen:C1845285,OMIM:300519,Orphanet:85321	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.545	0.00914952256515	0.0002	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0074	0.0079	0.0037	0.0041073	635	154602	rs145606134	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0055	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0053	0.0038	0.0037	0.0048	0.0046	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0053	0.0072	0.0027	0.0	0.91255	D	0.159	0.31527	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.999725	0.48557	D	1.17	0.29769	L	-1.43	0.80730	T	-5.98	0.89334	D	0.114	0.10198	-0.1217	0.79595	T	0.523	0.82202	D	10	0.013548255	0.00287	T	0.00915	0.24059	T	0.545	0.81077	.	.	0.946209569742	0.94564	0.8151536628486657	0.81471	1.42694036343	0.85735	0.395712047815	0.24472	T	0.393944	0.75322	T	-0.3125	0.07530	T	-0.219049	0.52828	T	0.0529671403931466	0.06013	T	0.970603	0.89432	D	0.86647743	0.88585	0.78075004	0.87075	0.8872234	0.90271	0.78075004	0.87076	-9.044	0.67981	D	.	.	0.170	0.37407	B	.	.	3.214743	0.43774	21.8	0.9970586797448715	0.80936	0.68189	0.33708	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0206921607590511	0.13282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	0.779	0.17694	3.121000	0.50131	.	.	0.587000	0.30956	1.000000	0.71638	0.997000	0.33255	0.978000	0.57271	0.9999:0.0:1.0E-4:0.0	5.606	0.16661	144	0.94257	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018031	0.000000	0.027933	0.011858	0.000000	0.011765	0.017778	0.015789	0.05	7132.43	34	chrX	102937494	.	A	G	7132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.185;DP=687;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.05;MQRankSum=-0.848;QD=20.03;ReadPosRankSum=-0.478;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,185:356:99:0|1:102937494_A_G:7144,0,6574:102937494	9	0	1	0
chrX	102937495	102937495	C	A	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.C177A:p.D59E	.	0	1489	25	8	0	41	0.0135807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.00674651568241	9.5e-05	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0073	0.0079	0.0037	0.0041009	634	154602	rs138133927	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0056	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0052	0.0038	0.0036	0.0047	0.0045	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0052	0.0072	0.0027	0.186	0.21467	T	0.223	0.25670	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.995827	0.42875	D	0.8	0.19659	N	-1.46	0.80983	T	-2.59	0.55821	D	0.079	0.05414	-0.4167	0.71497	T	0.431	0.77303	T	10	0.012709081	0.00272	T	0.006747	0.17840	T	0.407	0.71946	0.579	0.70476	0.837426278938	0.83587	0.644573263597182	0.64392	0.618518087764	0.56239	0.414517879486	0.27081	T	0.374216	0.73806	T	-0.550421	0.00290	T	-0.560806	0.16301	T	0.0864815356212415	0.10795	T	0.89531	0.63576	D	0.29524654	0.52475	0.22132494	0.46939	0.34425616	0.56615	0.22132494	0.46938	-7.072	0.54558	T	.	.	0.280	0.51271	B	.	.	2.272102	0.29044	18.00	0.99452021776926569	0.65325	0.51442	0.28896	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0141870613087505	0.12564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	-0.373	0.11893	-0.262000	0.08706	.	.	-0.315000	0.05944	0.974000	0.34632	0.150000	0.23170	0.977000	0.56843	0.0:0.7394:0.0:0.2606	5.090	0.14040	144	0.94257	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018031	0.000000	0.027933	0.011858	0.000000	0.011765	0.017778	0.015789	0.05	7132.43	34	chrX	102937495	.	C	A	7132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.81;DP=686;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.94;MQRankSum=-0.848;QD=20.03;ReadPosRankSum=-0.434;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,185:356:99:0|1:102937494_A_G:7144,0,6574:102937494	9	0	1	0
chrX	105953052	105953052	G	A	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon28:c.G4532A:p.R1511Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.100376736559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310620401	9.333e-06	1.366e-05	9.605e-06	8.754e-06	7.712e-05	4.72e-06	3.44e-06	1.276e-05	4.77e-06	7.712e-05	0	0	0	0	0	4.85e-06	8.927e-05	0	8.936e-06	8.715e-06	1.286e-05	0	1.879e-05	0	0	.	.	0	0	0	0	0	0	0	1.879e-05	0	0	0.607	0.05517	T	1.0	0.24054	T	0.978	0.58756	D	0.665	0.52961	P	0.003268	0.35183	N	0.000000	0.963676	0.30849	N	0.22	0.09567	N	3.59	0.04544	T	1.29	0.01197	N	0.192	0.24510	-0.9712	0.36946	T	0.008	0.02801	T	10	0.17936581	0.33067	T	0.100377	0.77262	D	0.141	0.37795	0.671	0.80903	0.544616563029	0.54116	0.160381047828648	0.15959	.	.	0.340765118599	0.16553	T	0.069542	0.33736	T	-0.349545	0.04756	T	-0.739874	0.03896	T	0.19898120481026	0.20360	T	0.874313	0.58483	D	0.08465641	0.19604	0.06595036	0.13441	0.08465641	0.19604	0.06595036	0.13441	-3.059	0.10831	T	.	.	0.175	0.38227	B	.;.	.;.	3.529247	0.49512	22.8	0.36473162965347944	0.02348	0.80943	0.40455	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0390535489101785	0.14376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.88	4.92	0.64147	4.684000	0.61374	6.479000	0.55733	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3465:0.0:0.6535:0.0	3.678	0.07834	38	0.97995	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1179.43	34	chrX	105953052	.	G	A	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-2.14;SOR=0.673	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1191,0,1095	9	0	1	0
chrX	106821996	106821996	G	A	exonic	TBC1D8B	.	nonsynonymous SNV	TBC1D8B:NM_017752:exon4:c.G380A:p.G127E,TBC1D8B:NM_198881:exon4:c.G380A:p.G127E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.172439048508	.	.	1.173e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747341691	9.121e-07	9.106e-07	0	2.76e-06	1.854e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.854e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988	0.07048	T	1.0	0.01155	T	0.019	0.19712	B	0.025	0.20508	B	0.000046	0.53742	D	0.125363	0.999984	0.54805	D	0.69	0.16971	N	3.25	0.20255	T	-0.93	0.30762	N	0.176	0.25867	-1.0703	0.09348	T	0.026	0.11176	T	10	0.13226977	0.25175	T	0.172439	0.84942	D	0.093	0.26882	0.441	0.49648	0.220303561663	0.21668	0.5093646614819456	0.50858	0.104447900269	0.11818	0.754188656807	0.75065	T	0.030408	0.21564	T	-0.317853	0.07074	T	-0.537984	0.18495	T	0.183996594666775	0.19484	T	0.838216	0.51127	T	0.23744212	0.46608	0.30672336	0.56696	0.23744212	0.46608	0.30672336	0.56695	-5.17	0.39396	T	.	.	0.242	0.47676	B	.;.;.;.	.;.;.;.	3.631534	0.51449	23.1	0.82348952576753343	0.14146	0.94991	0.63042	D	AEFGI	.	.	.	.	.	.	.	.	.	0.998166884696514	0.36515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.61	5.61	0.85347	4.135000	0.57758	6.414000	0.55601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0897:0.0:0.9103:0.0	10.724	0.45253	341	0.85936	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	834.43	33	chrX	106821996	.	G	A	834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=307;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.505;SOR=0.948	GT:AD:DP:GQ:PL	0/1:20,30:50:99:846,0,468	9	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:52,26:89:41:41,0,691	2	0	8	0
chrX	136875533	136875533	C	T	exonic	RBMX	.	nonsynonymous SNV	RBMX:NM_001164803:exon4:c.G269A:p.R90H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0276807064717	0.0017	0.0013245	0.0006	0.0037	0.0003	0	0	0.0003	0.0016	9.894e-05	0.000414	64	154602	rs146041009	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0027	0.0025	0.0033	0.0004	0.0027	0	0	0.0022	9.975e-05	0.0007	1.848e-05	0.0011	0.0011	0.0011	0.0010	0.0028	0.0010	0.0009	0.0023	0.0021	0.0028	0	0.0023	0.0030	0	0	0.0046	7.521e-05	0.0013	0	0.001	0.78490	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.06	0.08634	T	-2.02	0.46503	N	0.153	0.15749	-0.7781	0.56409	T	0.006	0.02168	T	7	0.003775984	0.00070	T	0.027681	0.50460	D	0.135	0.36572	.	.	0.284112513307	0.28011	.	.	.	.	.	.	.	.	.	.	-0.273503	0.11369	T	-0.630644	0.10366	T	0.00834481131533364	0.00101	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	-2.444	0.05410	T	.	.	0.064	0.01762	B	.	.	0.365468	0.07381	4.003	0.9684539224068176	0.31320	0.39335	0.26190	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999594460471771	0.40745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	0.479	0.16007	-0.351000	0.07760	-0.241000	0.10591	-1.953000	0.00482	0.137000	0.23458	0.000000	0.08366	0.363000	0.25954	0.0763:0.3698:0.1895:0.3644	4.178	0.09821	681	0.59854	.	.	.	.	.	.	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	0.005513	0.006803	0.011152	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	712.43	38	chrX	136875533	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=335;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.783;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,28:55:99:724,0,658	9	0	1	0
chrX	141002698	141002698	G	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.G5A:p.G2D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.174944969968	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489607447	3.644e-06	4.644e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.501e-05	8.693e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.867e-05	0	0	1.0	0.00964	T	0.83	0.03717	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.42	0.05507	T	3.49	0.00088	N	0.129	0.12341	-0.9803	0.34932	T	0.004	0.01365	T	7	0.101397336	0.18524	T	0.956671	0.99710	D	0.048	0.13305	0.368	0.37687	0.0762999501168	0.06990	0.0013652190435889872	0.00126	.	.	.	.	.	0.001901	0.01317	T	-0.516307	0.00462	T	-0.979416	0.00183	T	0.017921037392752	0.00518	T	0.210779	0.02549	T	0.29532337	0.52483	0.49253887	0.70646	0.29532337	0.52482	0.49253887	0.70647	-3.082	0.11090	T	.	.	0.065	0.01859	B	.	.	-0.813678	0.01081	0.048	0.10498859933170923	0.00134	0.00130	0.00805	N	AEFGI	.	.	.	.	.	.	.	.	.	1.57588558597822E-4	0.05650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.839000	0.01779	-1.303000	0.05769	-1.688000	0.00776	0.423000	0.26353	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	108	chrX	141002698	.	G	A	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.946;DP=792;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.855;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,40:369:99:0|1:141002698_G_A:679,0,13532:141002698	9	0	1	0
chrX	141002700	141002700	C	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.C7A:p.Q3K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.197173342896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259136219	3.644e-06	4.462e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.502e-05	8.694e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.868e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.04	0.06488	N	0.108	0.09349	-0.9550	0.40096	T	0.005	0.01651	T	7	0.12508819	0.23766	T	0.952237	0.99675	D	0.045	0.12272	0.331	0.31681	0.165133752707	0.16062	0.002219422540313533	0.00205	.	.	.	.	.	0.002738	0.02136	T	-0.519706	0.00442	T	-0.984298	0.00171	T	0.0147115752779718	0.00306	T	0.207979	0.02486	T	0.37449184	0.58914	0.31594577	0.57578	0.37449184	0.58915	0.31594577	0.57577	-2.352	0.04847	T	.	.	0.080	0.07697	B	.	.	-0.828410	0.01052	0.045	0.23927780063318618	0.01034	0.00199	0.01145	N	AEFGI	.	.	.	.	.	.	.	.	.	3.31293657876148E-4	0.06583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.300000	0.01219	-9.105000	0.00867	-1.852000	0.00570	0.323000	0.25529	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	108	chrX	141002700	.	C	A	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.766;DP=788;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,40:369:99:0|1:141002698_G_A:679,0,13532:141002698	9	0	1	0
chrX	141002778	141002778	A	G	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.A85G:p.K29E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.490410965177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413270893	3.015e-05	4.766e-05	2.356e-05	4.414e-05	0.0005	2.181e-05	1.867e-05	0.0003	0.0003	0	2.859e-05	5.27e-05	0	0	0.0005	2.472e-06	2.232e-05	0.0005	9.264e-06	3.623e-05	1.327e-05	0	3.205e-05	0	0	.	.	3.205e-05	0	0	0	0	0	0	0	0	0	0.255	0.16848	T	0.0	0.92824	D	0.046	0.21875	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	0.71	0.02130	N	0.156	0.16168	-0.9264	0.44659	T	0.009	0.03140	T	7	0.153458	0.28965	T	0.810796	0.98525	D	0.010	0.01040	0.376	0.38994	0.17258766438	0.16869	5.155462172028699E-4	0.00047	.	.	.	.	.	6.67E-4	0.00291	T	-0.479234	0.00747	T	-0.926163	0.00349	T	0.0435153923911886	0.04332	T	0.193081	0.02071	T	0.25475404	0.48506	0.36679494	0.62002	0.25475404	0.48506	0.36679494	0.62001	-0.492	0.00579	T	.	.	0.065	0.01986	B	.	.	0.714838	0.10837	7.517	0.50371471360100617	0.04372	0.01882	0.05788	N	AEFGI	.	.	.	.	.	.	.	.	.	4.65814759757675E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.935000	0.32453	0.000000	0.08366	0.092000	0.17891	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	109.43	108	chrX	141002778	.	A	G	109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.393;DP=812;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=0.526;QD=0.36;ReadPosRankSum=0.645;SOR=0.555	GT:AD:DP:GQ:PL	0/1:268,36:304:99:121,0,7466	9	0	1	0
chrX	141241591	141241591	C	T	exonic	SPANXC	.	nonsynonymous SNV	SPANXC:NM_022661:exon2:c.G220A:p.E74K	.	485	1035	2	0	0	2	0.000965251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0028	0.00370861	0.0012	0.0114	0.0004	0.0002	0.0002	0	0	0.0005	0.0006147	16	26028	rs144140529	0.0005	0.0010	0.0006	0.0001	0.0046	0.0004	0.0004	0.0040	0.0037	0.0038	0.0017	0.0004	0.0046	0	0	0.0002	0.0010	0.0004	0.0021	0.0034	0.0025	8.653e-05	0.0126	0.0018	0.0017	0.0081	0.0067	0.0045	0	0.0022	0.0013	0.0126	0	0	0.0002	0.0013	0.0009	0.079	0.33753	T	0.174	0.30045	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.87	0.10386	T	-2.96	0.61722	D	0.03	0.00717	-1.0044	0.28636	T	0.017	0.06998	T	7	0.0074335635	0.00169	T	.	.	.	0.054	0.15330	.	.	0.162503812791	0.15892	0.02255201064952654	0.02207	1.80444484246	0.91712	0.552129626274	0.46158	T	0.02339	0.17862	T	-0.803484	0.00007	T	-0.922079	0.00368	T	0.00340634439614215	0.00036	T	0.49935	0.15589	T	0.42769095	0.62601	0.55343646	0.74175	0.42769095	0.62601	0.55343646	0.74176	-2.947	0.09621	T	.	.	0.249	0.48417	B	.	.	1.629340	0.20803	14.92	0.85525766617131993	0.15947	0.00193	0.01117	N	AEFI	.	.	.	.	.	.	.	.	.	1.15699708666578E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.602000	0.05776	.	.	0.203000	0.17936	0.009000	0.18154	0.000000	0.08366	0.005000	0.06747	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000743	0.007246	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1309.43	33	chrX	141241591	.	C	T	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.654;DP=502;ExcessHet=0;FS=3.598;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.96;MQRankSum=3.61;QD=7.66;ReadPosRankSum=-3.467;SOR=0.897	GT:AD:DP:GQ:PL	0/1:101,70:171:99:1321,0,2401	9	0	1	0
chrX	141697582	141697582	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T177G:p.F59L	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.1278	0.1912	0.1492	0.0663	0.1286	0.1287	0.1	0.0933	0.122392	18922	154602	rs1059179	0.0003	0.0005	0.0003	0.0005	0.0069	0.0003	0.0003	0.0061	0.0058	0.0013	0.0003	0.0004	0.0069	0	0	4.767e-05	0.0007	0.0006	0.0007	0.0022	0.0010	3.12e-05	0.0058	0.0006	0.0005	0.0038	0.0032	0.0017	0	9.699e-05	0.0004	0.0058	0	0	5.726e-05	0	0.0008	0.099	0.30656	T	0.262	0.22895	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	0.1	0.05810	N	0.032	0.00825	-0.9312	0.43963	T	0.011	0.04134	T	6	0.002481401	0.00037	T	.	.	.	0.007	0.00512	0.222	0.14518	.	.	0.002543207102614836	0.00236	6.5508806655E-4	0.00063	.	.	.	0.002088	0.01490	T	-0.864755	0.00002	T	-0.93746	0.00304	T	0.000143023294762927	0.00001	T	0.338066	0.07246	T	0.109959066	0.25994	0.18032092	0.40823	0.109959066	0.25994	0.18032092	0.40823	-2.404	0.05157	T	.	.	0.543	0.66497	A	.	.	0.058166	0.04700	1.338	0.76663715438598801	0.11559	0.00267	0.01455	N	AEI	.	.	.	.	.	.	.	.	.	1.17943017809801E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.488000	0.06578	.	.	-1.340000	0.01205	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.182722	0.163265	0.161710	0.147619	0.214286	0.258824	0.165919	0.184211	0.05	295.43	34	chrX	141697582	.	A	C	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.98;DP=502;ExcessHet=0;FS=37.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.72;MQRankSum=-6.472;QD=1.5;ReadPosRankSum=-1.594;SOR=4.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20:197:99:0|1:141697582_A_C:307,0,7268:141697582	9	0	1	0
chrX	141697584	141697584	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T175G:p.F59V	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.1280	0.1911	0.1489	0.0664	0.1287	0.1291	0.0998	0.0935	0.122508	18940	154602	rs1059178	0.0003	0.0005	0.0003	0.0004	0.0069	0.0003	0.0003	0.0062	0.0059	0.0012	0.0002	0.0004	0.0069	0	0	4.767e-05	0.0006	0.0006	0.0007	0.0022	0.0009	3.116e-05	0.0061	0.0005	0.0005	0.0041	0.0034	0.0015	0	9.673e-05	0.0004	0.0061	0	0	5.721e-05	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.46	0.05249	T	1.39	0.00846	N	0.04	0.01347	-0.9290	0.44284	T	0.007	0.02518	T	6	0.0030126572	0.00049	T	.	.	.	0.014	0.01968	.	.	.	.	0.0037548928829723997	0.00351	6.18377004847E-4	0.00059	.	.	.	0.001182	0.00684	T	-0.925117	0.00000	T	-1.01479	0.00113	T	0.000251681771553671	0.00002	T	0.279972	0.04873	T	0.06468569	0.13749	0.18236877	0.41160	0.06468569	0.13749	0.18236877	0.41159	-2.648	0.06877	T	.	.	0.049	0.00117	B	.	.	-0.299377	0.02620	0.328	0.12841224857465558	0.00235	0.00017	0.00201	N	AEFI	.	.	.	.	.	.	.	.	.	6.6803492725993E-5	0.04366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.105000	0.01427	.	.	-1.874000	0.00549	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.182582	0.156463	0.159851	0.147619	0.214286	0.258824	0.174888	0.184211	0.05	295.43	34	chrX	141697584	.	A	C	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.452;DP=504;ExcessHet=0;FS=37.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.53;MQRankSum=-6.472;QD=1.5;ReadPosRankSum=-1.864;SOR=4.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20:197:99:0|1:141697582_A_C:307,0,7268:141697582	9	0	1	0
chrX	151743683	151743683	C	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon7:c.C1180T:p.H394Y	.	.	.	.	.	.	.	.	.	.	.	3429539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.667	0.187654065958	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0002	0.0001811	28	154602	rs200521778	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0	5.681e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	6.27e-05	6.092e-05	5.14e-05	8.868e-05	0.0004	2.901e-05	2.071e-05	4.841e-05	3.351e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.004	0.65419	D	0.004	0.74150	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.996441	0.43208	D	1.445	0.36358	L	-4.07	0.96562	D	-2.45	0.53577	N	0.235	0.26475	1.041	0.97925	D	0.913	0.97130	D	10	0.48001093	0.60374	T	0.187654	0.85952	D	0.667	0.87625	.	.	0.799962852074	0.79809	0.8676456651138357	0.86729	0.426352930789	0.43014	0.836189746857	0.87513	D	0.438415	0.78408	T	0.0796878	0.62005	D	0.208754	0.83599	D	0.144749343395233	0.16678	T	0.960254	0.85028	D	0.6571252	0.75745	0.63970804	0.78954	0.6571252	0.75746	0.63970804	0.78955	-8.458	0.64151	D	.	.	0.184	0.39832	B	.	.	4.346217	0.66720	25.0	0.99696143090792833	0.80316	0.96157	0.67794	D	AEFBI	.	.	.	.	.	.	.	.	.	0.995152058102218	0.33979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.96	4.96	0.65153	7.568000	0.81546	7.725000	0.67498	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	14.865	0.70043	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2369.43	33	chrX	151743683	.	C	T	2369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.147;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.08;SOR=0.667	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2381,0,2231	9	0	1	0
chrX	153445355	153445355	C	T	exonic	TREX2	.	nonsynonymous SNV	TREX2:NM_080701:exon2:c.G76A:p.E26K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0112890624705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02489	T	1.0	0.01155	T	0.985	0.61118	D	0.475	0.46927	P	0.036979	0.24457	U	0.268985	1	0.08975	N	0.17	0.09006	N	0.96	0.42888	T	0.65	0.02332	N	0.275	0.31478	-1.0214	0.23259	T	0.051	0.21728	T	10	0.06624699	0.09056	T	0.011289	0.28764	T	0.101	0.28911	0.585	0.71245	0.0551355673512	0.04727	0.4331797872171364	0.43234	0.0642824886983	0.07162	0.510533928871	0.40298	T	0.058354	0.30818	T	-0.360928	0.04077	T	-0.756224	0.03249	T	0.248056441545486	0.22786	T	0.762924	0.38892	T	0.17246482	0.37939	0.10459686	0.25124	0.17246482	0.37938	0.10459686	0.25123	.	.	.	.	.	0.190	0.47859	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.882999	0.12561	9.091	0.958450697743082	0.27976	0.08259	0.14211	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.71165621105691	0.22827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	3.13	0.35090	-0.023000	0.12403	.	.	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.026000	0.12556	0.0:0.6079:0.1837:0.2084	4.365	0.10653	209	0.91859	.;.;Exonuclease, RNase T/DNA polymerase III;.;.;Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1433.43	39	chrX	153445355	.	C	T	1433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=453;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.502;SOR=0.777	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1445,0,1850	9	0	1	0
chrX	154362534	154362534	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon17:c.C2449T:p.P817S,FLNA:NM_001456:exon17:c.C2449T:p.P817S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	1	1519	2	0	0	2	0.000657895	.	.	.	191890	not_specified|Heterotopia,_periventricular,_X-linked_dominant|Oto-palato-digital_syndrome,_type_II|Melnick-Needles_syndrome|Frontometaphyseal_dysplasia|Connective_tissue_disorder|Disorder_of_sexual_differentiation|FLNA-related_disorder|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771|.|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.320	0.170743209791	0.0002	.	0.0005	0	0.0001	0	0.0002	0.0008	0	0.0007	0.0005045	78	154602	rs200053635	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0006	3.788e-05	2.84e-05	0.0002	0	0.0001	0.0010	0.0005	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0007	0.0005	0	0	9.326e-05	0	0	0	0	0.0005	0	0.0018	0.009	0.57480	D	0.024	0.56640	D	0.996	0.68779	D	0.983	0.75793	D	0.000023	0.55875	N	0.069507	0.999266	0.46490	D	2.42	0.70002	M	-0.56	0.71187	T	-4.3	0.76496	D	0.109	0.39760	-0.0163	0.81916	T	0.519	0.82028	D	10	0.0738256	0.11204	T	0.170743	0.84821	D	0.320	0.64215	.	.	0.862928642666	0.86159	0.5124451592651809	0.51166	0.679247475551	0.59926	0.561857461929	0.47530	T	0.777463	0.94095	D	-0.356586	0.04327	T	-0.370492	0.36831	T	0.0884660829645406	0.11033	T	0.957004	0.83719	D	0.2130943	0.43679	0.33343104	0.59180	0.2130943	0.43679	0.33343104	0.59179	-9.267	0.69400	D	0.27806414843201943	0.37291	0.172	0.43186	B	.;.;.;.;.	.;.;.;.;.	3.274559	0.44839	22.0	0.99204873185051512	0.55412	0.71265	0.34939	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999952404109	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.13	4.26	0.49832	3.460000	0.52793	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0783:0.1303:0.6544:0.137	6.054	0.19026	84	0.96491	.;.;.;.;.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	1829.43	40	chrX	154362534	.	G	A	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=512;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.221;SOR=0.516	GT:AD:DP:GQ:PL	0/1:87,80:167:99:1841,0,2090	9	0	1	0